Biomedical subjects

C L Arberas

Publications and source records attributed to C L Arberas.

3 recordsLinked to original sources

PubMedDate not supplied

[Hereditary ataxias].

INTRODUCTION AND OBJECTIVE: The hereditary ataxias form a large, complex group of entities whose recognition is essential for correct genetic assessment, satisfactory clinical control and in some cases a suitable therapeutic approach. The clinico-semiological variety and advances in molecular biology have made the hereditary ataxias one of the most interesting subjects in neurology. In this paper our objective is to classify the clinical approach of the hereditary ataxias and define the different conditions known so as to orientate complementary investigations and thus obtain the correct diagnosis. DEVELOPMENT AND CONCLUSION: We analyze and classify them, according to their mode of presentation, as congenital (in general nonprogressive) and progressive. Both groups are then divided according to how they are inherited and we also include the specific molecular findings.

Diagnosis, Differential↗

PubMedDate not supplied

[Neuromuscular hereditary channelopathies: non-dystrophic myotonias, paramyotonias and periodic paralysis].

INTRODUCTION: The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels. DEVELOPMENT: In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement non dystrophic myotonia, paramyotonias and periodic paralysis, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies. CONCLUSIONS: Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment.

DNA Mutational Analysis↗

PubMedDate not supplied

[Behavioural phenotypes. Biologically determined neuropsychological patterns].

INTRODUCTION AND AIMS: A behavioural phenotype (BP) is a characteristic pattern of motor, cognitive, linguistic and social abnormalities that are associated in a way that is compatible with a biological disorder, while environmental factors are also known to be important in their development. Taking these concepts into account, we have analyzed several entities with acknowledged BP, which were selected according to the frequency of presentation, the compatibility of the association between BP and the underlying disease, and the importance of recognizing the entity, so as to enable suitable therapeutic guidance and proper genetic counselling. DEVELOPMENT: They were organized by dividing them into three groups according to the biological characteristics recognized to date: a) BP associated to genetic diseases with an identified biological basis (syndromes such as Lesch Nyhan, Rett, fragile X, tuberous sclerosis complex, Noonan, Sotos, Aicardi, Angelman, Prader Willi, Williams, Down, Smith Magenis, Di George, Pallister Killian and Turner, among others; b) BP associated to a genetic disease with an unidentified biological basis (Cornelia de Lange syndrome); and, c) BP with an as yet unidentified biological basis associated to diverse causations (autism). In all the entities phenotypic, clinical, cognitive, behavioural and biological aspects were analyzed from the way they are inherited to the molecular bases.

Abnormalities, Multiple↗