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Biomedical subjects

J J Poza

Publications and source records attributed to J J Poza.

45 records · Page 3Linked to original sources
PubMed1993

Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain).

Prevalence figures for inherited neuromuscular disorders are important both for health care planning purposes and for evaluating the need for DNA diagnostic services for eugenic approaches. We screened for the prevalence of myotonic dystrophy (MyD) through extensive inquiry of neurologic and primary health services of Guipúzcoa (Basque Country, northern Spain) between 1989 and 1991. Typical adult-onset and neonatal cases and relatives at risk; suffering from a partial syndrome, were included. In the latter, molecular typing was performed with DNA probes close to the MyD gene to demonstrate the MyD gene carrier status. The high prevalence detected (26.5 cases per 100,000 population) could be explained by methodological factors, but intrinsic factors, such as a possible founder genetic effect or the quick growth of the Guipúzcoa population since the last century may contribute to one of the highest MyD prevalence in the world. In the future, the methodological basis for epidemiologic surveys of MyD must combine molecular technology with more-extensive family inquiries.

Humans↗
PubMed1992

A new type of epidemiological study: questionnaire administered by medical personnel.

Doctors, nurses, and medical and nursing students administered a questionnaire on memory disturbances, tremor and clumsiness in their first-degree relatives who live or lived near them. We obtained data on 1,479 relatives, of whom 805 were alive and 674 had died. Of those alive and older than 65, 8.69% had severe memory disturbances, 1.11% a parkinsonian syndrome and 5.59% essential tremor. Of those who had died, 10.68% had suffered from severe memory disturbances before they died. The results of both groups are similar and in accordance with the data in the literature. In our opinion this new type of epidemiological study can be very useful in diseases which are easily detected by nonspecialists and in areas with hospitals and medical schools.

Adult↗
PubMed1992

[Pancreatic changes associated with acute gastroenteritis].

A retrospective study is discussed, in which the disorder of pancreatic enzymes in hospitalized patients because of an acute infectious gastroenteritis is analyzed. Of 30 cases, 15 showed a raise in lipase levels, being over 1,000 IU in five of them. There was no associated raise in amylase levels. Patients with high lipase levels did not show more fever, leucocytosis nor disorders on the hepatic enzymes, in comparison with those patients with normal lipase levels. Mean age was slightly lower in patients with high lipase levels than in those with normal lipase. Chronic diseases are not a predisposing factor to suffer pancreatic complications in patients with gastroenteritis. There was no case with intense abdominal pain which would suggest a pancreatitis, and a raise in lipase did not modify the evolution of the gastroenteritis.

Acute Disease↗
PubMedDate not supplied

[Alterations in functional proteins. Calpaine-3 deficiency].

INTRODUCTION: Muscular dystrophies due to calpain deficiency are the first example of a muscular dystrophy due to the mutation of a gene codifying for a non-structural enzymatic protein of unknown function and substrate. DEVELOPMENT: More than 70 mutations have been described in the gene structure, localized to chromosome 15. Although the time course and topography is fairly homogeneous, correlation between the different mutations and the phenotype has still to be analyzed. The age of onset of symptoms is usually between 8 and 14, with no difference between the sexes. There is a slow but uniformly progressive course starting in the pelvis and extending to the shoulder and the distal musculature. Almost all patients are confined to a wheelchair twenty years after onset of the disease. There is no facial, oculomotor or bulbar involvement and gemellar pseudohypertrophy is rare. However, a winged scapula and marked lumbar hyperlordosis is universal. No cardiac or cognitive changes have been observed. Muscle CT shows a pattern of atrophy, mainly of the posterior and medial muscle compartments and of the posterosuperficial group of the legs, which varies depending on the time the disorder has been present. This condition is the commonest etiological group of the dystrophy syndromes, especially of those of late infancy or juvenile onset, in the open populations studied to date. Muscle biopsy, stained by all methods available, is essential to rule out other types of progressive dystrophies secondary to deficiencies of structural proteins.

Adult↗
PubMedDate not supplied

[Epilepsy and genetics].

In the same way than in other areas of neurology, the development of genetics is revolutionizing our knowledge of epilepsies. In the last years, new epilepsy syndromes of genetic basis have been defined, and in some of them, the mechanism implicated in the origin of seizures has been determined. In the next years, we hope to determinate de innermost mechanisms by which epileptogenesis occurs, and to design new more rational strategies of prevention and treatment. The epilepsy syndromes in which a genetic basis has been established are presented.

Adolescent↗
PubMedDate not supplied

Drugs inducing or aggravating parkinsonism: a review.

Drug-induced parkinsonism (DIP) is frequent. The list of drugs able to induce parkinsonism is long and probably incomplete, because new drugs, with previously unknown antidopaminergic activity, are constantly being added. Not all the drugs have the same potency for inducing parkinsonism. We classify these drugs in three groups: (1) drugs with obvious antidopaminergic activity which regularly induce parkinsonism; (2) drugs able to induce parkinsonism in particular individuals and (3) drugs which may aggravate Parkinson's disease treated with levodopa. The reports of isolated cases of parkinsonism induced by widely-used drugs (drugs in group 2) may be the result of either an idiosyncratic side effect or a misdiagnosis of parkinsonism. The antidopaminergic activity of the drugs of this group is weak and not sufficiently demonstrated. Maybe, in these cases, the blockage of other neurotransmitters different from dopamine plays a role in the induction of parkinsonism. Probably, the number of patients with DIP is higher than reported or detected, because many patients suffer from weak symptoms that quickly disappear after drug withdrawal. One of the main points of interest is knowing the list, because all these drugs, specially those of group 1, should be avoided or used with caution in the treatment of some common symptomatic problems in patients with Parkinson's disease, such as depression, arterial hypertension, diabetes mellitus and cardiac disorders. The precautions should extent to other populations especially susceptible to suffer from DIP, such as the elderly or patients with other neurodegenerative disorders, such as Alzheimer's disease.

Aged↗