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Biomedical subjects

R Gil

Publications and source records attributed to R Gil.

At least 55 records · Page 3Linked to original sources
PubMed2000

A randomized comparison of elective high-pressure stenting with balloon angioplasty: six-month angiographic and two-year clinical follow-up. On behalf of AS (Angioplasty or Stent) trial investigators.

BACKGROUND: Previous randomized trials have shown beneficial effects of coronary stenting on restenosis and event-free survival rates. However, it has not yet been fully established if routine high-pressure stenting with an antiplatelet regimen can show similar results. METHODS: We compared the 6-month angiographic restenosis rate and 2-year event-free survival rate in 400 patients randomly assigned to stent or angioplasty. Aspirin and ticlopidine were prescribed in both groups. RESULTS: The procedural success rate did not significantly differ between the stent and angioplasty groups (97.92% vs 97.45%, P = not significant). No stent thrombosis was found. The 6-month restenosis rate was lower in the stent group (18. 18% vs 24.87%, P =.055). At 2 years target lesion revascularization rate was 17.19% in the stent group and 25.51% in the angioplasty group (P =.02, 33% reduction). No significant differences with regard to death and myocardial infarction were observed. Event-free survival rate at 6, 12, and 24 months was 86.77% vs 78.84%, 84.13% vs 76.70%, and 83.07% vs 73.54% for stent and angioplasty groups, respectively (P =.0172). CONCLUSIONS: The 6-month angiographic and 2-year clinical outcomes were better in patients who received stent than in those after balloon angioplasty. The difference in 2-year event-free survival rate was explained by a reduction in target lesion revascularization rate in the stent group.

Angioplasty, Balloon, Coronary↗
PubMed2000

Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Autosomal dominant DOPA-responsive dystonia (DRD) is usually caused by mutation in the gene encoding guanosine triphosphate-cyclohydrolase I (GTPCH I). We studied 22 families with a phenotype of levodopa-responsive dystonia by sequencing the six coding exons, the 5'-untranslated region and the exon-intron boundaries of the GTPCH I gene. Eleven heterozygous mutations were identified, including five missense mutations, one splice site mutation, two small deletions and two nonsense mutations, in 12 families that included 27 patients and 13 asymptomatic carriers. Six mutations were new and five had already been reported. Four of the mutations caused truncation of the GTPCH I protein. One family carried a base-pair change in the 5'-untranslated region, not detected in controls, that could be responsible for the phenotype. Three of the remaining 10 families had deletions in the parkin gene on chromosome 6, underlining how difficult it is to distinguish, in some cases, between DRD and parkin mutations. No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia.

Adolescent↗
PubMed2000

[Pathological laughter after the brainstem infarction].

We report a case of 'fou rire prodromique' heralding a brainstem infarct with favorable prognosis after thrombolysis. Different clinical forms of pathological laughter, the pathophysiological mechanisms and clinico-anatomical correlations of this rare phenomenon are discussed.

Anticoagulants↗
PubMed2000

[Bilateral medial medullary infarction].

We report a case of a 42-year old man with a bilateral medial medullary stroke (MMS) with favorable outcome. First described by Spiller in 1908, the MMS accounts for less than 0,5% of all cerebral infarcts. It may be unilateral or more rarely bilateral, and may often be the consequence of the atherosclerosis. The clinical features of MMS classically associate contralateral hemiparesis and lemniscal hypoesthesia accompanied by ipsilateral lingual palsy and sometimes oculomotor disturbances (upbeat nystagmus). With the advent of magnetic resonance imaging, some restricted or unusual clinical manifestations can be attributed to this localization. The benign form of MMS seems much more common than MMS with poor prognosis.

Adult↗
PubMed2000

Long-term changes in the response of conductance and resistance coronary vessels to endothelium-dependent and independent vasodilators. A double-blind placebo-controlled study of the effect of a 6-month treatment with cilazapril.

BACKGROUND: The aim of this study was to assess the effect of a 6-month treatment with the inhibitor of the angiotensin-converting enzyme cilazapril on the response of conductance and resistance vessels to endothelium-dependent and independent vasodilators, in a randomized placebo-controlled parallel group single center study. METHODS: Quantitative angiographic and Doppler flow time-averaged peak velocity measurements were performed in an artery with < 30% diameter stenosis after sequential selective intracoronary injection of papaverine (7 mg), acetylcholine (0.036, 0.36 and 3.6 microg/ml at 2 ml/min) and isosorbide dinitrate. Repeated assessment was performed after a 6-month treatment with cilazapril 20 mg/day or placebo. Thirty-four patients were enrolled in the study undergoing elective percutaneous coronary interventions for stable angina. Main outcome measures were percent differences from baseline and absolute measurements of mean coronary cross-sectional area, coronary flow time-averaged peak velocity and flow resistance in the initial study and at follow-up for the placebo and the treated group. RESULTS: No significant differences between the placebo and the treated group were observed in the modifications of cross-sectional area after acetylcholine and isosorbide dinitrate and in the response of time-averaged peak velocity to papaverine. After the maximal concentration of acetylcholine a high but statistically not significant increase in flow and a decrease in flow resistance were observed in the treated group (medians: 45% increase vs 4% increase for coronary flow, and 44% decrease vs 1% increase for flow resistance in the cilazapril and in the treated group, respectively, p = NS). CONCLUSIONS: In patients with coronary artery disease, a 6-month treatment with 20 mg of cilazapril/day did not modify the response to endothelium-independent and dependent vasodilators of epicardial arteries without any significant stenoses but induced a consistent, although not significant, increase in flow and decrease in flow resistance after acetylcholine.

Acetylcholine↗
PubMed1999

[123I]Iomazenil SPECT benzodiazepine receptor imaging in schizophrenia.

Deficient inhibitory neurotransmission of gamma-aminobutyric acid (GABA) has been implicated in the pathophysiology of schizophrenia based on postmortem studies. However, in vivo studies have shown predominantly negative or conflicting results. The goal of this study was to better characterize possible changes of the regional GABA(A)-benzodiazepine receptor distribution volume (BZR V3-p) in schizophrenia in vivo, using a larger sample size than previous studies. Single photon emission computed tomography (SPECT) with [123I]iomazenil was used with a constant infusion paradigm to measure the BZR V3-p under sustained radiotracer equilibrium conditions. Twenty-five patients with schizophrenia and 24 matched healthy control subjects were studied. Positive and Negative Syndrome Scale (PANSS) ratings were done in all subjects. Statistical parametric mapping (SPM) 96 was used to compare patients and control subjects as well as to study the relationship between SPECT results and composite PANSS scores based on two factorial models: the pentagonal model (positive, negative, dysphoric mood, activation, and autistic preoccupation factors) and the taxometric model (disorganized dimension). On the basis of 'absolute' values of V3-p with no normalization for total brain uptake, the schizophrenic patients showed no significant differences in BZR levels compared to the healthy control subjects. With a global normalization procedure, which is more sensitive to relative regional differences in activity, BZR V3-p was significantly decreased in the patients in the left precentral gyrus (BA 6). The relative BZR V3-p showed a significant positive correlation with duration of illness in the superior occipital gyri (BA 19). No significant correlations were observed between either absolute or relative BZR V3-p and either age or any of the composite PANSS scores based on any of the two factorial models in either patients or control subjects. No significant differences were observed between cigarette smoking vs. non-smoking patients, nor between the patients on atypical antipsychotics vs. on typical antipsychotics vs. not on any antipsychotics. In general, no significant differences in BZR V3-p were observed between patients and control subjects, except for a decrease in relative BZR V3-p in the left precentral gyrus. Grey matter atrophy is unlikely to be the cause for this decrease. However, we could not exclude that possibility. The positive correlation with duration of illness might reflect the relative preservation of neurons expressing BZR in the superior occipital gyri as compared to other cortical brain regions in schizophrenia.

Adult↗
PubMed1999

Increased dopamine transmission in schizophrenia: relationship to illness phases.

BACKGROUND: Abnormalities of dopamine function in schizophrenia are suggested by the common antidopaminergic properties of antipsychotic medications. However, direct evidence of a hyperdopaminergic state in schizophrenia has been difficult to demonstrate, given the difficulty to measure dopamine transmission in the living human brain. Such evidence has recently emerged. Three studies reported an increase in dopamine transmission following acute amphetamine challenge in patients with schizophrenia compared to matched healthy control subjects, thus demonstrating a dysregulation of dopamine in schizophrenia. In all studies, a large variance was observed within the schizophrenic group in the magnitude of this finding, and clinical predictors of this effect could not be identified. METHODS: In this paper, we combined previously published and newly acquired data to obtain sufficient power to address this question. RESULTS: The most important findings derived from this extended data set are: 1) dysregulation of dopamine function revealed by the amphetamine challenge is present at onset of illness and in patients never previously exposed to neuroleptic medications; 2) this dysregulation was observed in patients experiencing an episode of illness exacerbation, but not in patients studied during a remission phase. CONCLUSIONS: A hyperdopaminergic state is present in schizophrenia during the initial episode and subsequent relapses, but not in periods of remission. This finding has important consequences for the development of new treatment strategies for the remission phase.

Adult↗
PubMed1999

Regulation of beta-catenin signaling by the B56 subunit of protein phosphatase 2A.

Dysregulation of Wnt-beta-catenin signaling disrupts axis formation in vertebrate embryos and underlies multiple human malignancies. The adenomatous polyposis coli (APC) protein, axin, and glycogen synthase kinase 3beta form a Wnt-regulated signaling complex that mediates the phosphorylation-dependent degradation of beta-catenin. A protein phosphatase 2A (PP2A) regulatory subunit, B56, interacted with APC in the yeast two-hybrid system. Expression of B56 reduced the abundance of beta-catenin and inhibited transcription of beta-catenin target genes in mammalian cells and Xenopus embryo explants. The B56-dependent decrease in beta-catenin was blocked by oncogenic mutations in beta-catenin or APC, and by proteasome inhibitors. B56 may direct PP2A to dephosphorylate specific components of the APC-dependent signaling complex and thereby inhibit Wnt signaling.

Adenomatous Polyposis Coli Protein↗
PubMed1999

Characterization of Saccharomyces cerevisiae strains expressing ira1 mutant alleles modeled after disease-causing mutations in NF1.

The 2818 amino acids of neurofibromin, the product of the human NF1 gene, include a 230 amino acid Ras-GAP related domain (GRD). Functions which may be associated with the rest of the protein remain unknown. However, many NF1 mutations in neurofibromatosis 1 patients are found downstream of the GRD, suggesting that the C-terminal region of the protein is also functionally important. Since the C-terminal region of neurofibromin encompassing these mutations is homologous with the corresponding regions in the two Saccharomyces cerevisiae Ras-GAPs, Ira1p and Ira2p, we chose yeast as a model system for functional exploration of this region (Ira-C region). Three missense mutations that affect the Ira-C region of NF1 were used as a model for the mutagenesis of IRA1. The yeast phenotypes of heat shock sensitivity, iodine staining, sporulation efficiency, pseudohyphae formation, and GAP activity were scored. Even though none of the mutations directly affected the Ira1p-GRD, mutations at two of the three sites resulted in a decrease in the GAP activity present in ira1 cells. The third mutation appeared to disassociate the phenotypes of sporulation ability and GAP activity. This and other evidence suggest an effector function for Ira1p.

Fungal Proteins↗
PubMed1999

CSF monoamine metabolite and beta endorphin levels in recently detoxified alcoholics and healthy controls: prediction of alcohol cue-induced craving?

BACKGROUND: Abnormalities in central neurotransmitter systems have been described in alcohol-dependent individuals and may contribute to alcohol craving. This study compared cerebrospinal fluid (CSF) levels of monoamine metabolites and beta endorphin levels in samples from early-onset alcohol-dependent patients (n = 20), late-onset alcohol-dependent patients (n = 14), and healthy controls (n = 23). It also evaluated whether these CSF measures levels predicted the degree of craving experienced in response to an alcohol cue. METHODS: Individuals meeting DSM-III and -IV R-criteria for alcohol dependence, 1 to 3 months postdetoxification, and healthy controls underwent a lumbar puncture. Patients also completed a cue exposure test day between 3 and 15 days later. RESULTS: Alcohol-dependent patients had lower CSF levels of the norepinephrine metabolite MHPG compared with the healthy subjects, but this difference disappeared when differences in age between the groups were accounted for. No other group comparisons between patients and healthy subjects reached significance. CSF levels of the dopamine metabolite HVA were significantly higher in the early-onset patients compared with the late-onset patients and controls. The CSF measures did not predict the precue levels of craving, or the increase in craving after alcohol cue exposure. CONCLUSIONS: These results are inconclusive about the role of monoaminergic dysregulation in recovering alcoholics. They also question the utility of these CSF measures to predict alcohol cue reactivity in patients who have been sober at least 1 month.

Adult↗
PubMed1998

[Cerebral ischemic disorders in the young subject. Epidemiologic and prognostic data].

A COMMON EVENT: Cerebral vascular events in young subjects account for 5 to 15% of all such cases admitted to specialized services. The incidence of cerebral vascular events in young subjects varies from 3 to 40 per 100,000 depending on the study period (incomplete explorations in early studies), the study site (industrialized or developing country) and the ethnic background of the population. A HETEROGENEOUS GROUP: Although cerebral vascular events are defined as those occurring in subjects aged 18 to 45 years, the population is nevertheless quite heterogeneous due to rising incidence after 35 years and variable frequency of age-dependent and site-dependent underlying causes. RELATIVELY GOOD PROGNOSIS: Early mortality is relatively low (approximately 5%) and two-thirds of the subjects suffer minor or mild sequellae. However, depression, which is frequent, and the impossibility to return to normal work activities have an important impact on quality of life.

Adult↗
PubMed1998

[Cerebral ischemic disorders in the young subject. Etiologic diagnostic approach to ischemic disorders].

EXHAUSTIVE WORK-UP: Initial explorations include standard laboratory tests, electrocardiogram, ultrasound exam of the cervical vessels, and transthoracic echocardiogram. If the initial work-up is normal, a transesophageal echocardiogram and/or an angiogram (arteriography, magnetic resonance angiography or spiral CT) can be helpful in addition to further immunology and hemostasis explorations. TRANSESOPHAGEAL ECHOCARDIOGRAM: This is a cardinal exam for the etiological work-up in young subjects having suffered a cerebral ischemic event. It can detect anomalies involving the left atrium and auricle, the interventricular septum or the aortic arch missed on standard echocardiography. CONVENTIONAL ARTERIOGRAPHY: There is a trend to replace conventional arteriography with less invasive techniques such as magnetic resonance angiography or spiral CT. When coupled with an ultrasound exploration of the cervical and intracranial vessels, the contribution of these new techniques is similar to that of conventional arteriography, particularly in patients with arterial disease.

Adult↗
PubMed1998

[Cerebral ischemic disorders in the young subject. The causes of ischemic disorders].

PROTEIN CAUSES: Although cardiogenic emboli, arterial dissection, and to a lesser extent, arteriosclerosis are the major underlying causes, clinicians should keep in mind the wide spectrum of possible etiologies. UNCOMMON CONDITIONS: Rigorous history taking (toxic risk, family history), systematic search for skin or skeletal anomalies, and an ophthalmologic examination can help orient the diagnosis and lead to the appropriate complementary explorations. DIAGNOSTIC STRATEGY: The need for a precise etiologic diagnosis is obvious as many vascular conditions are amenable to specific treatments or require particular monitoring or preventive measures. A family survey many be indicated.

Adult↗
PubMed1998

[Papillary fibroelastoma. A rare etiology of strokes in young patients].

BACKGROUND: The papillary fibroelastomas are cardiac lesions, which typically occur on the cardiac valves, but rarely on the endocardium. The incidence of these benign primitive tumors varies from 0.002 to 0.33% and increases with advancing age. METHODS: We report two cases of stroke, one in a 31-year-old man and the other in a 48-year-old woman, both admitted to the same stroke center. RESULTS: The diagnostic studies were normal in these two patients, except for the echocardiography. The first showed an echogenic mass on the mitral valve on transthoracic echocardiography (TTE), confirmed by the transesophageal echocardiography (TEE). The second demonstrated a mass on the sigmoid aortic valve on TEE, but the TTE was normal. For these two patients, a surgical excision was carried out and pathologic examination concluded to a papillary fibroelastoma. After surgery, no recurrence was observed. CONCLUSIONS: The papillary fibroelastomas are usually asymptomatic and easily detected by TEE. However, it can be revealed by stroke, myocardial infarction and lower limbs ischemia. These cardiac tumors should be surgically removed, since their complete excision remains the only means of avoiding a recurrence of embolism.

Adult↗