Biomedical subjects

Paulo H F Bertolucci

Publications and source records attributed to Paulo H F Bertolucci.

4 recordsLinked to original sources

PubMed2004

Werner helicase polymorphism is not associated with Alzheimer's disease.

Alzheimer disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. We observed that the genotype distributions of WRN 1367 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects (P>0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.

Aged↗

PubMed2004

Permanent global amnesia: case report.

PURPOSE: To present a case of permanent global amnesia related to hippocampal damage. Permanent global amnesia is a very rare condition of unknown etiology; lesions restricted to the hippocampus are uncommon, which hinders investigations of this pattern of memory loss. This case is unusually well documented, as the patient underwent extensive neuropsychological evaluations. CLINICAL FEATURES: A cheerful right-handed, 83-year-old retired electrician was first evaluated in 1990 for progressive difficulty in learning new information and in recalling events over the preceding 3-4 years. Tests over the next 5 years showed that the impairment was confined to episodic declarative memory. New verbal information could be stored only in episodic memory in a restricted manner, limited by short-term memory capacity. A relatively mild retrograde amnesia was detected. Semantic and implicit memory was spared, as were other functions evaluated. The patient's language and executive function were strikingly efficient. Magnetic resonance imaging of the brain showed bilateral atrophy of the hippocampi and amygdalae, ruling out conditions such as tumour growth. A diagnosis of permanent global amnesia was made. In the ensuing years, the retrograde amnesia worsened, but no new deficits were identified. CONCLUSION: This case, the first with a detailed cognitive examination, is evidence of a relatively pure hippocampal pattern for memory loss in permanent global amnesia.

Aged↗

PubMed2003

[Suggestions for utilization of the mini-mental state examination in Brazil].

UNLABELLED: Mini-metal state examination (MMSE) is a screening test to detect cognitive impairment. The objectives of the present study are to describe some adaptations for use of MMSE in Brazil and to propose rules for its uniform application. METHOD: We evaluated 433 healthy subjects using the MMSE and verified the possible influence of demographic variables on total scores. RESULTS: Educational level was the main factor that influenced performance, demonstrated by ANOVA: F(4,425) = 100.45, p<0.0001. The median values for educational groups were: 20 for illiterates; 25 for 1 to 4 yrs; 26.5 for 5 to 8 yrs; 28 for 9 to 11 yrs and 29 for higher levels. CONCLUSION: The MMSE is an excellent screening instrument and definitive rules are necessary for comparison purposes.

Adolescent↗

PubMed2003

[A Brazilian Portuguese version for the ADCS-CGIC scale].

Given increasing research into new therapies for dementia, especially for Alzheimer disease, it has become clear that traditional methods of evaluation, centered on cognition, have proved insufficient. Thus, scales for behavioral disturbances and activities of daily living have been added. Nevertheless, some observations of clinical significant changes, as reported by caregivers, could be overlooked. Clinician's impression of global change scales (CIGIC) are based on broader information and may detect more subtle changes. Typically they take into consideration caregiver information, that which is seen by the health professional during the interview, and may also include brief cognitive tests. We present a Brazilian Portuguese version of a widely used scale of this type, specifically designed for Alzheimer disease (ADCS-CGIC), being the result of the recommended method of translation, back-translation and version by panel consensus.

Alzheimer Disease↗