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Biomedical subjects

A Achene

Publications and source records attributed to A Achene.

5 recordsLinked to original sources

Longitudinal study of cognitive dysfunction in multiple sclerosis: neuropsychological, neuroradiological, and neurophysiological findings.

OBJECTIVE: (1) To assess cognitive function and cerebral magnetic resonance imaging (MRI) involvement in relapsing-remitting multiple sclerosis; (2) to monitor disease evolution, cognitive dysfunction, and cerebral lesion burden over time (mean 8.5 year follow up period); (3) to study the relation between clinical, neuropsychological, and MRI data. On follow up assessment, visual and auditory oddball event related potentials (ERPs) were recorded as psychophysiological evaluation of cognitive status. Correlations between neuropsychological, MRI, and ERP data were also analysed. METHODS: Neuropsychological study assessed verbal and non-verbal IQ, deterioration index (DI) from WAIS subtests, conceptual reasoning, attention, verbal and visuospatial short-term and long term memory. MRI assessment detected presence of demyelinating lesions by using a semiquantitative method as well as cortical and subcortical atrophy over time. RESULTS: Attention, short-term and long term visuospatial memory were mildly impaired at baseline and remained unaltered longitudinally. At retesting a significant worsening of verbal long term memory (p=0.023), DI presence (p=0.041) and the increase of supratentorial and subtentorial MRI lesions load (p=0.001) emerged. Expanded disability status scale score correlated significantly with total lesion burden at both evaluations (p=0.043 and p=0.024 respectively). Temporal, occipital, and frontal horn lesions as well as cortical atrophy correlated significantly with attention and memory tests at baseline. Follow up assessment revealed significant correlation between cortical atrophy and attention as well as visuospatial short-term memory; spatial long term memory correlated significantly with lesions in body of lateral ventricle and frontal lobe. ERP study showed P300 latency abnormalities in 75% of patients, involving specifically more visual P300 (58.4 % of cases) than auditory wave (41.6 %). Visual P300 latency and amplitude correlated significantly with DI and auditory P300 latency with frontal horn and brain stem lesions. CONCLUSIONS: These findings revealed mild cognitive impairment in MS patients particularly consistent with slowing information processing over time. Increased MRI lesions do not correlate with the clinical course of the disease and cognitive deficit evolution. Thus, cognitive dysfunction could be related to disease peculiarity and not to the time course. Correlations between P300, neuropsychological, and MRI findings provide further information about ERP application to examine cognitive impairment in MS and probably to investigate their neural origin.

Adult↗

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of a DCX mutation likely due to apparent nonpenetrance.

Adolescent↗

Cauda equina syndrome secondary to idiopathic spinal epidural lipomatosis.

STUDY DESIGN: Three cases of idiopathic epidural lipomatosis are reported. OBJECTIVES: Description of the relationship between spinal pathologic overgrowth of fat tissue and neurologic symptoms. SUMMARY OF BACKGROUND DATA: Idiopathic epidural lipomatosis is a very rare condition; it is usually secondary to chronic steroid therapy or endocrinopathic diseases. METHODS: Three men with a mean age of 58.5 years, who experienced intermittent claudication, bilateral radicular pain in both legs, and urinary dysfunction with hypoesthesia in the perineal region, were evaluated by plain radiography and magnetic resonance imaging, the results of which demonstrated a pathologic overgrowth of fat tissue in the spinal canal with a marked impingement of the dural sac. Obesity, endocrinopathic diseases, and chronic steroid therapy were excluded for all patients. Surgical treatment was performed by wide multilevel laminectomies, fat debulking, and instrumented posterolateral fusion. RESULTS: After surgery there was a gradual improvement in symptoms and signs so that 2 years later the patients returned to daily activities and were neurologically normal. CONCLUSIONS: Spinal epidural lipomatosis can be a cause of back pain but rarely radicular impingement. Magnetic resonance imaging is the procedure of choice. The treatment must be performed early by wide surgical decompression.

Aged↗

Morphometric analysis of the lateral ventricles in living human.

The evaluation of the volume of the encephalic ventricles in the living human has a great importance in diagnosis and monitoring of several pathologies. As well as a good measuring accuracy, a great usefulness has the facility of execution. The present study would be a contribution to the search of systems of analysis that assure both fast execution and greatest precision of the quantitative values. Brain MRI scans from 10 female individuals, aged from 25 to 60, with no apparent neurologic or psychiatric pathology have been studied. The brains were evaluated with 5 mm slices thickness (gap 1 mm) scans performed in axial and coronal planes and obtained by means of long and short spin echo sequences. Images have been acquired on a Personal Computer and submitted to a semiautomatic morphometric analysis. The values obtained are in accordance with the range of normal values reported from the literature, showing also a lower standard deviation; besides this clear accuracy of measurement, it's important to emphasize the facility and swiftness in the execution of the imagine evaluation.

Adult↗