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Biomedical subjects

D Hannequin

Publications and source records attributed to D Hannequin.

At least 55 records · Page 3Linked to original sources
PubMed1998

[Clinical assessment of dysarthria: presentation and validation of a method].

We adapted in French the Frenchay Dysarthria Assessment (FDA) developed by P. Enderby in 1983. This tool quantitatively evaluates the organs involved in speech and provides a measurement of intelligibility. Productions of normal subjects were analyzed. Reproductibility of data (correlation and interobserver concordance) was high in 18 dysarthric patients. A study performed in 100 dysarthric patients corresponding to 4 types of dysarthria (spastic, ataxic, hypokinetic and mixte) showed that dysarthria resulted from a global impairment of organs implied in speech, rather than one specific organ. The reduction in the intelligibility score was related to organ impairment.

Aged↗
PubMed1998

[Genetics of Alzheimer's disease].

This review reports epidemiological data and biological mechanisms about the Apolipoprotein E gene allele epsilon 4 that is a major risk factor for Alzheimer's disease (AD). The second part describes the three genes, amyloid precusor protein (APP), presenilin 1 (PS1) and presenilin 2 (PS2) genes, which when mutated cause early-onset autosomal dominant AD. Mutations on each of these genes have as a common consequence elevated levels of A beta (42,3).

Alzheimer Disease↗
PubMed1998

[Naming impairment for man-made objects in a case of herpes encephalitis].

We report the naming performances of a 25 year-old woman with a left internal and inferior temporal lesion caused by herpes encephalitis who showed a preferential impairment for naming man-made objects. Evidence for category-specific effect was provided by a stepwise logistic regression using 171 pictures characterized by several parameters (words frequency, diversity of responses, length, name agreement, majoritary response, familiarity, visual complexity and canonicity). Analyses were realized over a 5 month period. Methodological considerations, anatomic correlations and arguments suggesting lexical access or semantic storage disturbance are discussed.

Adult↗
PubMed1997

[Cerebrovascular complication in non-bacterial thrombotic endocarditis. Value of cardiac transesophageal ultrasonography].

BACKGROUND: Non-bacterial thrombotic endocarditis in patients with cancer can lead to ischemic stroke. Endocardial vegetations are usually small and may be missed at transthoracic echocardiography. CASE REPORT: Disseminated intravascular coagulation developed in a woman with ischemic stroke. Transthoracic echocardiography was normal. Four days later, transesophageal echocardiography revealed a large mitral vegetation suggesting non-bacterial thrombotic endocarditis. The diagnosis was confirmed at pathology which reported carcinoma of the colon. DISCUSSION: Transthoracic echocardiography is rarely contributed to the diagnosis of thrombotic endocarditis. In our patient transesophageal echocardiography grave the diagnosis before death instead of retrospectively at autopsy as usually occurs, demonstrating the value of transesophageal echocardiography for cancer patients who develop ischemic stroke.

Adenocarcinoma↗
PubMed1997

No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease.

The apolipoprotein E (ApoE)-epsilon4 allele is associated in a dose dependent manner to an increased risk for Alzheimer's disease. However, the ApoE-epsilon4 allele effect does not account for all patients with Alzheimer's disease, and the existence of other genetic risk factors has been postulated. Kamboh et al reported an association between Alzheimer's disease and the A allele of alpha1-antichymotrypsin (Aact) gene, which was not confirmed in a larger series more recently analysed. The ApoE and Aact genotypes were analysed in 314 patients with Alzheimer's disease and 173 healthy controls, confirming the dose dependent effect of the ApoE-epsilon4 allele. Nevertheless, even using odds ratios adjusted for age and sex, there was no significant effect of the Aact genotype on Alzheimer's disease or on the ApoE-epsilon4 allele associated risk for Alzheimer's disease.

Alleles↗
PubMed1997

Outcome in 43 patients with distal anterior cerebral artery aneurysms.

BACKGROUND AND PURPOSE: The aim of this retrospective multicenter study was to evaluate the outcome of distal anterior cerebral artery (DACA) aneurysms and to determine the incidence, causes, and consequences of unfavorable outcomes. METHODS: 43 patients with 50 DACA aneurysms (27 females and 16 males, mean age 49 years) were studied retrospectively. Forty-four DACA aneurysms were treated surgically (83% with an interhemispheric approach), and 2 were embolized. At postoperative day 10, all patients underwent routine angiography. The outcome at 6 to 12 months was scored according to the Glasgow Outcome Scale (GOS). RESULTS: 35 DACA aneurysms were ruptured. Among the 26 "good"-grade patients (Hunt and Hess grades I through III), 18 (69.2%) were in GOS 1, 2 in GOS 2 (7.7%), 2 in GOS 3 (7.7%), and 4 in GOS 5 (15.4%); among the 9 "poor"-grade patients (Hunt and Hess grades IV and V), 1 (11.1%) was in GOS 1, 2 in GOS 2 (22.2%), 2 in GOS 3 (22.2%), and 4 in GOS 5 (44.5%). The initial intracerebral hemorrhage (ICH) (40%) induced neurological aftereffects in 8 patients. An operative rupture occurred in 40%, with a temporary occlusion in 28.6% that was responsible for mediocre results in 3 patients (8.7%). A postoperative thrombosis was observed in 4 patients (11.4%) and an aneurysmal remnant in 1 (2.8%). Ten DACA unruptured aneurysms were clipped without operative rupture or thrombosis. CONCLUSIONS: The authors suggest that the proportion of ruptured DACA aneurysms evolving to a GOS 1 or 2 was similar to that of aneurysms found in other locations, after early surgery. Endovascular treatment should be considered in the management of uncommon ruptured fusiform DACA aneurysms.

Adolescent↗
PubMed1997

Tentorial edge traumatic aneurysm of the superior cerebellar artery. Case report.

The authors report an unusual case of a traumatic aneurysm of the right superior cerebellar artery (SCA). A 22-year-old woman presented with continuous headaches that appeared 15 days after she experienced closed head trauma as a result of a cycling accident. Computerized tomography scanning performed 3 months later showed a nodular lesion on the free edge of the tentorium, which mimicked a meningioma. The aneurysm was identified on magnetic resonance angiography, which showed the SCA as the parent vessel. The parent vessel was trapped, and the aneurysm sac was excised via right temporal craniotomy. Pathological examination of the sac revealed a false aneurysm. The patient's outcome was excellent. The pathophysiology of traumatic aneurysm at such a location suggests that surgery may be the treatment of choice.

Accidents, Traffic↗
PubMed1997

Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.

The distribution of apolipoprotein E (APOE) genotypes as a function of age and sex has been examined in a French population of 417 Alzheimer disease (AD) patients and 1,030 control subjects. When compared to the APOE epsilon3 allele, an increased risk associated with the APOE epsilon4 allele (odds ratio [OR] [epsilon4] = 2.7 with 95% confidence interval [CI] = 2.0-3.6; P < .001) and a protective effect of the APOE epsilon2 allele (OR[epsilon2] = 0.5 with 95% CI = 0.3-0.98; P = .012) were retrieved. An effect of the epsilon4 allele dosage on susceptibility was confirmed (OR[epsilon4/epsilon4] vs. the epsilon3/epsilon3 genotype = 11.2 [95% CI = 4.0-31.6]; OR[epsilon3/epsilon4] vs. the epsilon3/epsilon3 genotype = 2.2 [95% CI = 1.5-3.5]). The frequency of the epsilon4 allele was lower in male cases than in female cases, but, since a similar difference was found in controls, this does not lead to a difference in OR between sex. ORs for the epsilon4 allele versus the epsilon3 allele, OR(epsilon4), were not equal in all age classes: OR(epsilon4) in the extreme groups with onset at < 60 years or > 79 years were significantly lower than those from the age groups 60-79 years. In epsilon3/epsilon4 individuals, sex-specific lifetime risk estimates by age 85 years (i.e., sex-specific penetrances by age 85 years) were 0.14 (95% CI 0.04-0.30) for men and 0.17 (95% CI 0.09-0.28) for women.

Age of Onset↗
PubMed1997

[Spontaneous thrombosis of cerebral arteriovenous malformation].

Complete disappearance of a cerebral arteriovenous malformation (AVM), 9 years after its discovery, is reported in a 45-year-old man. This unusual evolution was revealed by the onset of 3 seizures. CT scan and MR imaging eliminated any hemorrhage and carotid angiography showed the spontaneous thrombosis of the whole malformation. The evolution of the MRI signals demonstrates that seizures and the disappearance of the AVM were concomitant. It is suggested that the spontaneous thrombosis of the venous drainage caused the AVM disappearance with cerebral oedema responsible of seizures.

Epilepsy, Generalized↗
PubMed1997

[EEG recordings during episodes of palinacousis and palinopsia].

Palinopsia (visual perseveration) and palinacousis (auditory perseveration) are reported in a 51-year-old woman with a left temporo parietal astrocytoma. EEG showed a left temporal delta-focus with sharp waves. EEG was not modified during neither palinacousis nor palinopsia. The relationship between the two hallucinatory phenomena and epilepsy is discussed.

Brain Neoplasms↗
PubMed1996

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.

We have identified a novel Alzheimer's disease family in which affected subjects had a very young age of onset (range 29-35 years). Neuropathological confirmation of the diagnosis was obtained for one patient. Molecular analysis shows that within this family the disease results from a missense mutation at codon 235 of the presenilin 1 (PS-1) gene. Two patients had exhibited generalized tonico-clonic seizures several years before the onset of dementia. Whether this particular clinical feature is a consequence of the PS-1 mutation remains to be established. The Leu235Pro mutation is, to our knowledge, the PS-1 mutation associated with the youngest age of AD onset, which suggests that it has a drastic effect on PS-1 function.

Adult↗
PubMed1996

Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.

Segregation analysis of Alzheimer disease (AD) in 92 families ascertained through early-onset ( < or = age 60 years) AD (EOAD) probands has been carried out, allowing for a mixture in AD inheritance among probands. The goal was to quantify the proportion of probands that could be explained by autosomal inheritance of a rare disease allele "a" at a Mendelian dominant gene (MDG). Our data provide strong evidence for a mixture of two distributions; AD transmission is fully explained by MDG inheritance in < 20% of probands. Male and female age-of-onset distributions are significantly different for "AA" but not for "aA" subjects. For "aA" subjects the estimated penetrance value was close to 1 by age 60. For "AA" subjects, it reaches, by age 90, 10% (males) and 30% (females). We show a clear cutoff in the posterior probability of being an MDG case.

Age Factors↗
PubMed1996

Picture confrontation oral naming: performance differences between aphasics and normals.

Oral confrontation naming was compared in 108 normal subjects controlled for education, age, and gender and in 18 aphasic patients for the same set of 115 pictures. Demographic variables influenced both normals' and aphasics' performance. However, the nature of aphasics' misnamings on the one hand and the differential effects of characteristics of pictures and words on normals' and aphasics' responses on the other indicated specific deficits in patients. The classical hypothesis that aphasics' misnamings and the production of word associations by normals should rely on similar mechanisms (Rinnert & Whitaker, 1973) is questioned. Nondominant responses observed in normals accounted for a larger proportion of verbal errors than associates to target words.

Adult↗
PubMed1996

[Genetics of Alzheimer's disease].

This review reports the different genetic factors that have been identified either as risk factor for Alzheimer's disease (AD) or directly causing the disease. First are reviewed epidemiological data and biological mechanisms about the apoplipoprotein E gene allele epsilon 4 that is a major risk factor for Alzheimer's disease. The second part describes the mutations responsible for early-onset autosomal dominant AD found in three different genes. The gene located on chromosome 21 encodes the amyloid precusor protein (APP). The presenilin 1 and presenilin 2 genes, located on chromosome 14 and 1 respectively, encode not yet known membrane proteins.

Alzheimer Disease↗
PubMed1996

Clozapine for the treatment of psychosis in Parkinson's disease: a review.

The occurrence of psychosis is frequent during the evolution of Parkinson's disease. The reduction of therapeutics or the use of classical neuroleptics may improve the symptoms, but usually worsens parkinsonism. Clozapine is an atypical neuroleptic with only few extrapyramidal effects, which has been proposed at low dose in this indication since 1985. A review of the literature, about more than 200 patients shows good results in approximately 90% without worsening of extrapyramidal symptoms. Some patients even noted an improvement of their motor state while treated by clozapine alone or as dopatherapy was secondarily increased. More controversial results were obtained in demented or depressed patients. Sedation is one of the most frequently encountered side-effect but rarely necessitates the withdrawal of clozapine. Even if the risk of agranulocytosis is slight, regular blood cell counts must be done.

Antiparkinson Agents↗