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Biomedical subjects

F Coria

Publications and source records attributed to F Coria.

At least 37 records · Page 2Linked to original sources
PubMed1995

[Genetic neuroepidemiology].

Many human diseases result from the combined effect of several genetic and non genetic factors. Thanks to the development of powerful tools for molecular analysis, researchers in recent years have begun to uncover the genes behind such multifactorial neurologic and systemic disorders as Alzheimer's and Parkinson's diseases and diabetes. Likewise investigators have been able to confirm that the course of these diseases and their clinical manifestations depend on the concurrence in the same individual of specific genetic variations. Because each gene confers a certain degree of predisposition to a specific disease, they are therefore called susceptibility genes. The search for and analysis of susceptibility genes in defined populations is termed genetic epidemiology. This multidisciplinary science is providing valuable data that further our understanding and ability to diagnose of disorders of the nervous system. It also enables us to predict the clinical course of disease in a given patient with a high degree of reliability, even when no clinical signs are yet evident.

Alleles↗
PubMed1994

Value of Hodkinson's test for detecting dementia and mild cognitive impairment in epidemiological surveys.

In order to test the value of Hodkinson's test (HT) for the detection of dementia and other milder forms of cognitive impairment in community surveys, we have studied two separate groups of 50 individuals; one of the groups included individuals with dementia or mild cognitive impairment (MCI), and the other individuals with no cognitive disturbances. Both groups were drawn from the same rural population and subjected to HT and a neuropsychological exam for positive and differential diagnosis of cognitive impairment. The gold standard criteria for the diagnosis of dementia and MCI were the DSM-IIIR criteria and a simplified and adapted version of the criteria established for age-associated memory impairment. We found that the best cutoff of HT providing maximum sensitivity and specificity for the diagnosis of both dementia and MCI was 7. For this cutoff, sensitivity and specificity for the diagnosis of MCI were 94 and 90%, respectively; for the diagnosis of dementia sensitivity and specificity were 100 and 53%, respectively. This together with its brevity, low cost and independence of sensory impairment and cultural background makes the HT useful for large population-based screening of dementia and MCI.

Adult↗
PubMed1993

Axonal form of Guillain-Barré syndrome: evidence for macrophage-associated demyelination.

We report on the clinical, electrophysiological, and pathological findings in a patient with pure motor and axonal Guillain-Barré syndrome, who died 29 days after onset. There was marked reduction of compound motor action potential amplitudes and denervation potentials in the tibialis anterior muscle. Motor and sensory conduction velocities of median nerve were normal. Peroneal nerve was inexcitable at the ankle but its latency from knee to tibialis anterior was normal. F waves were absent or delayed. The major burden of pathological changes fell on ventral spinal roots. Fundamental lesions included segmental demyelination, axonal degeneration, widespread endoneurial lipid-laden macrophage infiltrates, remyelination, and clusters of small regenerating fibers. These findings suggest that axonal damage in the axonal form of Guillain-Barré syndrome is secondary to demyelination.

Axons↗
PubMed1993

Oxidative polymorphism of debrisoquine is not related to the risk of Alzheimer's disease.

Oxidative polymorphism of debrisoquine has been studied in patients suffering from many spontaneous disorders which show genetic and/or environmental factors in their pathogenesis. To elucidate whether any relationship exists between this genetic polymorphism and the risk of developing Alzheimer disease (AD) we determined the oxidative phenotype and metabolic ratio (MR) of debrisoquine (DBQ) in 47 patients with AD or senile dementia of Alzheimer type (SDAT) and 837 healthy controls. The patients were free of drugs during at least the previous 30 days; all the controls were free of drugs. Three patients (6.38%) and 42 controls (5.02%) were classified as poor metabolizers (PM) of DBQ (non-significant difference). The distribution of MR values in the AD/SDAT patients showed non-significant differences when compared with controls. There was no relation between oxidative polymorphism of DBQ and age at onset of the disease. These results suggest that DBQ oxidative genetic polymorphism cannot be considered as a risk factor for developing AD-SDAT.

Aged↗
PubMed1993

The cellular pathology associated with Alzheimer beta-amyloid deposits in non-demented aged individuals.

In this study, we have compared the cellular pathology associated with beta-amyloid (beta A) deposits which characterize Alzheimer's disease (AD) in demented patients with pathologically confirmed AD, with that in non-demented aged individuals. Brain sections from two severely demented AD cases, six non-demented individuals with beta A deposits, and six age-matched controls devoid of beta A deposits were double-immunostained with antibodies against beta A, and antibody markers for neurofibrillary tangles (NFT), astrocytes and microglial cells. We found that the severely demented patients displayed numerous plaques of variable morphology, most of which were associated with NFT, hypertrophied astrocytes and reactive microglial cells. In contrast, non-demented patients showed fewer plaques, few or not NFT and less astroglial and microglial reaction. The number of plaques with associated abnormal cellular elements were much lower in non-demented than in demented cases. Furthermore, classical plaques were more likely to be associated with abnormal cellular elements than diffuse plaques, which were most often devoid of any associated cellular change. These findings suggest that: (i) beta A plaques in non-demented individuals may represent an early stage of AD; (ii) beta A deposition is the first recognizable pathological abnormality of AD; and (iii) NFT, and astro- and microglial proliferation are later features, possibly secondary to the known dystrophic effects of the beta A peptide and other fragments of its precursor protein.

Aged↗
PubMed1993

Diagnosis of X-adrenoleucodystrophy phenotypic variants.

We report the radiological and biochemical data of a familial X-adrenoleucodystrophy with an extreme phenotypic variability, in which the diagnosis of several affected members was delayed for several years. The propositus developed a progressive dementia, while two of his brothers were diagnosed of primary Addison's disease several years previously. MRI in two cases with different phenotypes revealed hyperintense diffuse white matter lesions, and the diagnosis was confirmed by increased serum levels of very long chain fatty acids. We conclude that X-adrenoleucodystrophy should be included in the differential diagnosis of adult Addison's disease even though no neurological involvement or family history is recorded, and that MRI is a useful tool for diagnosis and follow-up of neurological involvement in this disease.

Addison Disease↗
PubMed1993

Prevalence of age-associated memory impairment and dementia in a rural community.

To obtain accurate estimates of the prevalence of age-associated memory impairment, dementia, and Alzheimer's disease, a population study was carried out in Turégano, a rural community of 1011 inhabitants in the Segovia province of Spain. The study was divided into two phases: a door to door survey of the entire population aged 40 years and over (503 persons), followed by a clinical examination of suspected cases for positive and differential diagnosis of dementia and cognitive impairment. The prevalence of age-associated memory impairment was 3.6% in individuals of 40 years and over and 7.1% in individuals of 65 years and over, whereas dementia was found in 2.6% and 5.2%, respectively. The prevalence rates of both clinical conditions increased with age. The most prevalent clinical category of dementia was dementia of Alzheimer type, which represented 1.8% and 3.8% of these two age groups. The corresponding figures for vascular dementia were 0.4% and 0.9% and for secondary dementia 0.4% and 0.5%. Age-associated memory impairment is an age-dependent disorder with a high prevalence among the elderly; some of these patients may represent an early stage of Alzheimer's disease, suggesting that the prevalence of this disorder may be higher than previously estimated.

Adult↗
PubMed1993

Valproate-induced coma: case report and literature review.

OBJECTIVE: To report a case of hyperammonemia without hepatic dysfunction as a possible cause of lethargy, stupor, and coma in a woman after valproic acid (VPA) administration, and discuss the possible different mechanisms of ammonia elevation and coma. CASE SUMMARY: A woman diagnosed with complex partial seizures that secondarily generalize was treated with phenytoin (PHT) 250 mg/d for 18 years. Three months before admission, this dosage was increased to 300 mg/d and phenobarbital (PB) 100 mg/d was added because the seizures were incompletely controlled. The patient developed a progressive inability to walk. She was diagnosed as having PHT intoxication. VPA therapy was begun while PHT was being tapered and progressive impairment of consciousness occurred. This evolved into a coma without focal neurologic signs, and was accompanied by isolated hyperammonemia without hepatic failure. DISCUSSION: Adverse effects attributable to VPA were reviewed in the literature. Occasionally, VPA may lead to severe secondary effects such as hepatic failure and coma. In these cases increased blood concentrations of transaminases, bilirubin, and ammonia have been found. Several reports have stressed the existence of hyperammonemic coma without biochemical evidence of hepatic failure, which is what occurred in our patient. This suggests that isolated hyperammonemia and hepatic failure after VPA treatment may have a different biochemical basis. CONCLUSIONS: VPA-induced coma with hyperammonemia and without evidence of hepatic failure should be considered in patients being treated with PHT or PB when VPA is administered concomitantly. This case report shows the importance of clinical monitoring and immediate drug discontinuation when drowsiness, gastrointestinal symptoms, or lethargy occur.

Ammonia↗
PubMed1993

Q fever mimicking herpetic encephalitis.

We describe a patient with temporal lobe encephalitis associated with primary Coxiella burnetii infection who presented with CT and MRI findings suggestive of herpes simplex encephalitis and an initial improvement during treatment with acyclovir. Q fever should be considered in the differential diagnosis of patients whose manifestations suggest herpes encephalitis.

Coxiella burnetii↗