Biomedical subjects
Publications and source records attributed to R Alberca.
A patient presented with myasthenic syndrome apparently not related to any neoplasia. A peculiar myopathy characterized by absolute predominance (99.50%) and atrophy of type 2A muscle fibers was found in both quadriceps muscles. It is difficult to determine the relation between the myasthenic syndrome and the localized quadriceps myopathy for which a congenital nature is suggested.
A female patient had permanent axial muscular rigidity similar to the "stiff-man syndrome", together with axial myoclonus triggered by stretch reflexes and by supramaximal stimulation of the supraorbital nerve. The disorder responded to treatment with diazepam and baclofen. This disorder bore a marked similarity to the so-called "jerking stiff-man syndrome".
A Spanish family transmits, as an autosomal dominant trait, a form of amyotrophic lateral sclerosis characterized by an unusually prolonged evolution of the disease in all affected members. Precocity and persistence of muscle cramps, presence of unilateral proximal segmental myoclonus and early abolition of ankle jerks are other clinical features conspicuous in this family. This type of hereditary ALS of non-chamorro origin and prolonged evolution is rare.
A complete autopsy verification of progressive bulbar palsy associated with neural deafness was performed. Hearing loss and speech difficulties developed in a five-year-old girl. When she was 24 years old, clinical examination demonstrated deafness and bulbopontine paralysis together with retinitis pigmentosa, peripheral amyotrophies, pyramidal signs, and ataxia. The patients died at 27 years and the autopsy disclosed degenerative changes characterized by simple atrophy and loss of neurons accompanied by gliosis and loss of myelinated fibers. The structures principally affected were the anterior horns and the motor nuclei of the brain stem together with the eighth cranial nerve nuclei. Loss of myelinated fibers was found in the spinocerebellar and pyramidal tracts and in the fasciculus gracilis. Our study suggests that progressive bulbar paralysis with neural deafness should be considered as a nosological entity.
The patient reported here presented electrically silent rolling movements of the muscle under hand compressions, myoedema and myotonia-like muscle responses to mechanical stimulation. These muscle contractions suggest a disturbance of the function of the myofibrillar apparatus. Th neuromuscular syndrome of our case is similar to the muscular disorder described by Torbergsen (1975), but in addition histochemical and electron microscopic studies of the muscle showed morphological abnormalities not related to any specific muscle disease. Furthermore, a cerebellar syndrome attributed to a cerebellar atrophy was the patient's main complaint. Both the neuromuscular syndrome and the cerebellar disorder were semeiologically independent of each other.
The study of a family affected with hereditary distal myopathy with onset in early infancy is presented. Complete neurological examination was necessary in several members of the two last generations to discover the existence of the abnormalities of which they were unaware. The propositus was the most affected member of the family iwth distal paresis of the upper and lower extremities and selective paresis of the deltoid muscles. In addition he had kyphoscoliosis, talipes valgus and limitation of mobility of several joints. The onset of the disease was estimated as before the age of 2 when the child started walking. There was no progression of the disease. Clinical examination suggested a myopathic origin of the condition. A sural nerve biopsy was normal. Light-microscopy histochemical studies disclosed a predominance of type I fibres which were at the same time hypotrophic. Subsarcolemmal deposits of mitochondria were present although they were scanty and of normal ultrastructural appearance. In view of the morphological presentation it is postulated that this disease should be classified within the groups of myopathies accompanied by disproportion of fibres and selective atrophy of type I fibres.
Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.
Glossopharyngeal and vagal neuralgia secondary to neurovascular compression of the 9th and 10th cranial nerves is reported. Microsurgical decompression of the nerves provided relief from the symptoms.
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A nine-year-old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6-10 micrometers. A grouping of both type 1 and type 2 muscle fibers was also seen. We suggest that this disease entity is not caused by a hereditary sensory neuropathy, but rather that it derives from a developmental defect.
UNLABELLED: BASIC: The loss of verbal fluency in Alzheimer's disease (AD) has been related to the cognitive and functional impairment caused by the disorder. GOALS: To determine the value of the different types of verbal fluency examination for the detection of AD. MATERIAL AND METHODS: We have compared the results obtained in the study of verbal fluency in 74 patients with probable AD (NINCDS-ARDRA criteria) to a control group of 64 persons of similar age, gender and educational level. Patients were divided in three categories according to the intensity of dementia: very mild (MMSE > 23), mild (MMSE 18-23) and moderate (MMSE 10-17). Semantic and literal verbal fluencies were studied by means of the "set-test", including in the analysis the results in every of four categories and total, the time consumed per category and the sum of all, the number of animal's names and words given in a minute. We also determined the number of animals in every fifteen seconds up to one minute in 66 controls y 97 patients. Results in the different groups were compared using the ANOVA variance and the contrast of means for alpha < or = 0.05. CONCLUSIONS: The time consumed in saying the names has a great value in detecting AD, with the same or even better significance than the number of words. It is feasible to shorten the examination and use only one category of names. Our results suggest that counting the names of animals given in the first fifteen seconds does not lower the value of the exam and can also suppress a "roof effect" of the test. A short version of semantic verbal fluency examination could be of potential use in general practice where time consuming exams are difficult to implement.
INTRODUCTION: Posterior cortical atrophy (PCA) is a dementing syndrome characterized by an early alteration of higher visual functions. Patients usually develop a perceptive visual agnosia related to Balint syndrome. DEVELOPMENT: Verification showed Alzheimer s disease (AD) in most PCA observations (13/14 cases), and it can be concluded that there is a posterior variant of AD with prominent visual symptomatology. However, most PCA cases have not been verified and the nature of the disorder remains unknown in these observations. An early and severe unilateral occipital horn dilatation was found in one out of every six cases with non verified PCA. To the best of our knowledge, this image has not been described in AD and these observations could be of different nature. On the other hand, some non verified PCA cases have occasionally manifested as an associative visual agnosia. The nature of this type of associative disorder is unknown, but it could be similar to the nature of semantic dementia, a non Alzheimer s syndrome related to unspecific lesions of temporal lobes.
INTRODUCTION AND DEVELOPMENT: This work reviews the relation between Alzheimer s disease (AD) and women, a very interesting issue both for its socio economic, and etiopathogenic and therapeutic aspects. Much of the prevalent research conducted in this field shows that a higher proportion of suffers from this disease are women, and in the work on incidence there is at least a tendency toward the same conclusion, especially at a very advanced age. In fact, the risk of suffering from AD is greater among women and most of the patients we attend are females, which is to a large extent associated with the fact that women live longer. However, it is possible that there are other biological factors involved and for this reason the action of estrogens on the brain and the consequences of women s being deprived of them during menopause is of special interest. CONCLUSIONS: Different studies have shown that the administration of hormone replacement therapy (HRT) lowers the risk of suffering from this disease, although design defects make it necessary to wait for the conclusions from other research work currently being conducted. There are also data that supports the idea that HRT can be beneficial in AD if it is administered in suitable doses. Obviously gender can influence or modulate other risk factors (RF). Genetic factors are not easily modified and for this reason research is currently aimed at factors in which a strong environmental component is involved. Another very controversial possible RF is lack of schooling, but some data support the notion that its influence can be especially harmful among females. This is a very important hypothesis because women make up the greater part of the illiterate population in Spain. Finally, women are also prevalent among caregivers and, therefore, suffer AD from both angles: they must care and be cared for. The reaction to this situation seems to be gender specific, which means that women in particular suffer the consequences of the lack of reciprocity brought about by AD something that does not happen in other equally devastating chronic processes, but which affect the physical sphere.
In 20 patients with benign intracranial hypertension (BIH) a study of the P100 latency of visual evoked potentials (VEP) was carried out. At admission only 5 patients showed abnormal latencies. The mean of the P100 latencies in patients was significantly increased as compared with controls. Latencies persisted relatively prolonged once the funduscopy had become normal. In the last investigation, one year after BIH had disappeared, the latencies in patients were already similar to those in the control group. On the other hand, no patient with normal latencies had visual sequelae. Sequelae also did not develop in patients in whom initially prolonged latencies progressively returned to normal during the evolution. Sequelae developed in one patient in whom latencies became progressively prolonged. In that case the increased latencies preceded the fall in visual acuity. These data may be useful to evaluate visual function in patients with BIH.