Biomedical subjects
Publications and source records attributed to P de Castro.
A case of Lafora's disease diagnosed by skin biopsy is reported. Lafora's bodies, the hallmark of myoclonal epilepsy, were present in the epithelial cells of the apocrine glands. Therefore, the skin biopsy of the axilla proved to be very useful in the diagnosis of this entity. A striking feature of the case was that Lafora's bodies were only found in apocrine glands, whereas the eccrine glands were free of them.
In an attempt to establish the efficacy of the most recent diagnostic tests--magnetic resonance (MR) imaging and multimodal evoked potentials (EP), 28 patients with clinically definite multiple sclerosis (MS) (1.a Poser's categories) were studied. The MR was positive in 26 (92%) patients; the EP were altered in 23 (82%)--the visual EP in 18 (64.2%), the auditory EP in 5 (17.8%), and the somatosensory EP in 15 (53.5%). Three patients with abnormal brain stem MR had normal EP. Two patients had normal MR and altered EP. There was not any patient with normal MR and EP. The MR was the most sensitive technique for the diagnosis of MS, but only during the 3 first years of evolution. After this study we consider the convenience to have both MR and EP positive to give a patient the diagnostic of clinically definite with paraclinic support (category 1.b of Poser).
In the present study 84 patients with the diagnosis of multiple sclerosis were identified as living in Navarra on the date of prevalence (December 31, 1986). The raw yearly incidence rate was 0.49/100000, which is similar to that in Mediterranean countries. A significant increase of this rate was found between 1951 and 1986, which was interpreted as a consequence of higher economic status and/or progressive industrialization. The raw prevalence rate was 16.4/100000 and age-specific prevalence was 26.5. Therefore, Navarra is a medium risk area for MS. Mean age at onset was 29.3 years, with a significant female predominance. In addition, MS presented earlier in females. The relationship between MS and latitude of the residence area was confirmed. The most common presenting symptoms were motor (paresia) and sensory (paresthesia). Cerebrospinal fluid was abnormal in 86.5% of patients, evoked potentials (mostly visual) in 85.9%, and magnetic resonance in 100%. Demyelinizing signs were detected with CT in 29.4% of patients. The diagnostic criteria of the Boston University Workshop were highly reliable. The most common evolutive pattern was the pure remitting one. The mean degree of disability was 3.6 in Kurtzke's scale. The evolutive form and the duration of the disease were identified as predictive of disability. 43.5% of benign forms and 13.1% of late onset forms were identified.
X-linked familial hypophosphatemic rickets (X.L.F.H.R.) is one of the D resistant rickets. The inheritance pattern is related to the X chromosome. Most constant feature is hypophosphatemia. Pathogenesis is still a subject of controversy. There are three main theories: a) An abnormal vitamin D metabolism. b) Secondary hyperparathyroidism developping as a result of the diminished calcium absorption by gut. c) A primary deffect of phosphate transport al various levels. Authors study and comment six cases of X.L.F.H.R., three of which belong to the same family. Clinical, radiological and higtological findings correspond to those of severe rickets. It is a chronic disease which affects children during growth period, giving rise to deforming bones invalidism. Treatment consists on continuous administration of oral phosphate and vitamin D.
Although the presence of intellectual impairment in multiple sclerosis (MS) is known since the first studies of the disease frequently the impairment goes equally undetected for the patients, their family and the physician because the physical dysfunction is much more outstanding. In this study a population of 50 persons suffering clinically definite MS (Poser's criteria) and 50 healthy controls matched with the patients in sex, age and cultural level were submitted to a neuropsychological test battery (NPTB). The existence of a correlation between the punctuation obtained in the NPTB and factors such as the level of disability, the time of evolution, the type of MS and the work status was searched. The results show a greater difficulty in doing tasks requiring attention-concentration skills thus giving the MS patients significantly lower scores in the memory test when compared with the controls. The execution of all tests was worse in those forms of MS with the longest time of evolution, higher EDSS scores and the chronic-progressive types. In our study the loss of the working status was never due to the intellectual impairment, it was because of the physical disability.
The presence of intellectual impairment in MS has been known since the first studies of Charcot and Vulpain who described the memory's weakening appearing in these patients. However, the interest for the MS' cognitive deficits has specially increased in the decade of the 80's. In this article, a bibliographical revision of the last published studies about the cognitive impairment in MS has been made paying attention to those superior functions known as more affected. The aim of this article is to known the correlation among the cognitive impairment and the MR images, level of disability, fatigue, duration and course of the disease and demographic factors.
We report the results of intracarotid (IC) cisplatinum and intravenous carmustine (BCNU) in 26 patients with supratentorial malignant glioma and recurrent low grade glioma. A response rate of 53.84% (95% confidence interval 33.3%-73.4%) was found. The median survival for the whole group was 11 months (range 3-70), with 35% of patients surviving for 2 years. At the present time, 5 patients are still alive, with a median follow up of 68 months (range 56-70). Neurological toxicity has been low and transient, being attributable to the technical degree of care in catheter positioning, cisplatin dosage and the technique of drug administration into the carotid artery.