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M Lefevre

Publications and source records attributed to M Lefevre.

At least 19 recordsLinked to original sources
PubMed2006

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE: To search for genotype-phenotype correlations in late-onset MLD. METHODS: The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients heterozygous for mutation I179S, in which the second arylsulfatase A (ASA) mutation had also been determined. RESULTS: P426L homozygotes principally presented with progressive gait disturbance caused by spastic paraparesis or cerebellar ataxia; mental disturbance was absent or insignificant at the onset of disease but became more apparent as the disease evolved. In contrast, compound heterozygotes for I179S presented with schizophrenia-like behavioral abnormalities, social dysfunction, and mental decline, but motor deficits were scarce. Reduced peripheral nerve conduction velocities and less residual ASA activity were present in P426L homozygotes vs I179S heterozygotes. CONCLUSION: The characteristic clinical differences between homozygous P426L and compound heterozygous I179S patients establish a distinct genotype-phenotype correlation in late-onset metachromatic leukodystrophy.

Adolescent↗
PubMed2005

[Septal alcoholisation of hypertrophic obstructive cardiomyopathy in childhood].

The authors report a case of septal alcoholisation in a 6 year old child with hypertrophic obstructive cardiomyopathy responsible for congestive cardiac failure despite optimal betablocker therapy. The indication was retained in a context of mucoviscidosis complicated by multiresistant bacterial infection. At catheterisation, the dominant septal artery was identified and an alcoholisation was performed by the classic technique described in adults. The immediate result was satisfactory with regression of the signs of cardiac failure and reduction of 70 mmHg of the maximal instantaneous pressure gradient (from 160 to 90 mmHg). However, 10 months later, the signs of right heart failure reappeared with a partial increase in the maximal instantaneous pressure gradient (100 mmHg) leading to surgical myectomy while the patient's condition had considerably improved from the pulmonary point of view. Septal alcoholisation would appear to be a therapeutic alternative in children especially in cases with a temporary or permanent contraindication to conventional surgery.

Cardiac Catheterization↗
PubMed2004

[What can be expected from off-pump coronary artery surgery?].

Coronary artery bypass surgery with beating heart (off-pump) has become more common in the last ten years allowing seven randomized studies with at least 60 patients, comparing off-pump and on-pump coronary bypass. Anaesthesia, monitoring and haemodynamic complications are described. Randomized studies concluded to less elevation of biochemical markers of myocardial and renal injury, less hydric inflation, less cerebral microemboli, reduction of homologous blood transfusions, of hospital stay and global costs. However in low risk patients no reduction in myocardial infarction, atrial fibrillation, stroke, acute renal failure, early reoperation, surgical site infection and mortality were observed. Non-randomized studies suggest a benefit in stroke and mortality in elderly patients but the possibility of incomplete revascularization remains.

Anesthesia↗
PubMed2004

Bioactive compounds in nutrition and health-research methodologies for establishing biological function: the antioxidant and anti-inflammatory effects of flavonoids on atherosclerosis.

Identifying bioactive compounds and establishing their health effects are active areas of scientific inquiry. There are exciting prospects that select bioactive compounds will reduce the risk of many diseases, including chronic diseases such as cardiovascular disease. Recent findings have established that cardiovascular disease is a disease of inflammation, and consequently is amenable to intervention via molecules that have anti-inflammatory effects. In addition, research demonstrating adverse effects of oxidants on atherogenesis raises the possibility that antioxidants can confer cardioprotective effects. This review provides an overview of research approaches that can be used to unravel the biology and health effects of bioactive compounds. Because of the number of bioactive compounds and the diversity of likely biological effects, numerous and diverse experimental approaches must be taken to increase our understanding of the biology of bioactive compounds. Recognizing the complexity of this biology, sophisticated experimental designs and analytical methodologies must be employed to advance the field. The discovery of novel health effects of bioactive compounds will provide the scientific basis for future efforts to use biotechnology to modify/fortify foods and food components as a means to improve public health.

Animals↗
PubMed2004

[A rare cause of myocardial infarction: papillary fibroelastoma of the aortic valve].

Papillary fibroelastoma is a rare, benign endocardial tumour usually located on the cardiac valves. Before echocardiography, these tumours were chance findings either at surgery or at autopsy. With the advent of echocardiography, the diagnosis has become commoner and they are often the cause of systemic embolism justifying surgical ablation. In this case, an aortic valve papillary fibroelastoma presented with myocardial infarction in a 78 year old woman with normal coronary angiography. The diagnosis was strongly suspected at echocardiography and confirmed by histological analysis of the surgically excised tumour.

Aged↗
PubMed2003

Consumption of a controlled low-fat diet containing olestra for 9 months improves health risk factors in conjunction with weight loss in obese men: the Ole' Study.

OBJECTIVE: To compare the effects of a standard American diet, a traditional low-fat diet, and a low-fat diet containing the fat substitute olestra on risk factors for heart disease and diabetes. DESIGN: A 9-month, double-blind, randomized, parallel-arm, feeding study comparing three diets: (1). control (33% fat), (2). fat-reduced (FR; 25% fat), and (3). fat-substituted (FS) where olestra replaced 1/3 of dietary fat (33% lipid and 25% digestible fat). Subjects were allowed to adjust their total energy intake as desired, allowing weight to fluctuate. SUBJECTS: A total of 37 healthy, obese men (age 36.7+/-1.3 y; body mass index 30.8+/-0.4 kg/m(2)). MEASUREMENTS: Body weight and composition by dual-energy X-ray absorptiometry, blood pressure, serum lipids, lipoproteins, hemostatic factors, glucose, insulin, and leptin at baseline and every 3 months. RESULTS: The FS group lost 6.27 kg of body weight by 9 months vs 4.0 kg in the control and 1.79 kg in the FR groups. There was a significant diet main effect on cholesterol (P=0.002), low-density lipoprotein cholesterol (P=0.003), and triglycerides (P=0.01), all of which decreased in the FS group but not the other groups by 9 months. Apolipoprotein B (ApoB) increased in the FR and control groups but was unchanged in the FS group (diet main effect P=0.04). High-density lipoprotein (HDL) cholesterol increased in all groups over 9 months (time main effect P=0.0001). Time main effects were also observed for cholesterol, ApoA1, ApoB, Factor VII, diastolic blood pressure, and glucose. After adjustment for % fat loss at 9 months, the effects of diet on change in risk factors remained significant only for triglycerides. DISCUSSION: Consumption of a low-fat diet containing olestra for 9 months produced significant improvement in cardiovascular risk factors, an effect largely explained by weight loss. Long-term low-fat diet consumption with or without olestra does not decrease HDL cholesterol.

Adult↗
PubMed2003

Relevance of vertical growth pattern in thin level II cutaneous superficial spreading melanomas.

Thin (<or=0.76 mm) level II cutaneous superficial spreading melanomas (SSMs) are known to be of excellent prognosis and very few recur, metastasize, or are lethal. Although many prognostic features at this stage have been studied, none appears to be statistically significant. The concept of tumor growth phase is correlated with Clark's level except for level II. SSM level II show either an invasive vertical growth phase or an invasive radial growth phase. The aim of our study (retrospective, multicenter, and case-control type) was to investigate the prognostic impact of vertical growth phase in thin level II cutaneous SSM. We identified 12 patients of poor outcome with complete initial excision. Each case was matched with three controls for gender, age, location, tumor thickness, and follow-up period since diagnosis. Independent pathologists studied all cases and controls. Univariate analyses were performed with a conditional logistic regression method. A kappa test was used to assess reproducibility between pathologists. Our study is the first and largest that shows that vertical growth phase is the only statistically significant prognostic factor for thin level II cutaneous SSM. We propose that growth phase evaluation (a minimum of eight serial sections being mandatory not to underdiagnose vertical growth phase) should be added to the recommendations for melanoma histologic report, at least for level II SSM.

Adult↗
PubMed2003

[Struma ovarii: a rare tumor that deserves special management. Case report and review of the literature].

Struma ovarii is a rare benign tumor which represents less than 3% of ovarian teratomas. We report a case of struma ovarii occurring in a 64-year-old woman. This tumor was thought to be a malignant ovarian tumor until surgical exploration. Based on this observation and the review of the literature we describe the main characteristics and propose a diagnostic and therapeutic management scheme for such tumors.

Adnexa Uteri↗
PubMed2003

Prospective randomized comparison between redon catheters and chest tubes in drainage after cardiac surgery.

AIM: To compare in a prospective randomized study chest tube (CT) and redon drains (RD) for effectiveness, cost, pain and complications after heart surgery using cardiopulmonary bypass. METHODS: Forty patients undergoing heart surgery were analyzed prospectively. Twenty patients had small RD with strong (-700 mmHg) vacuum and 20 others standard CT. All patients had patient controlled analgesia in the postoperative period and pain was noted. Residual pericardial effusion (RPE) was controlled and quantified at postoperative day 7 with transthoracic echocardiography. Drainage complications were noted and compared in both groups. RESULTS: Surgical statistics were comparable in both groups. Two patients underwent reoperation in CT for clotting, and 1 in RD for active surgical bleeding. One patient had orifice infection in CT. Drainage volumes and times were comparable in both groups at removal (992+/-507 ml in RD, 1154+/-571 ml in CT, p=ns). Morphine consumption and pain estimation were comparable in both groups in the postoperative period and at drainage removal. Echographic control showed important RPE for 3 patients in both groups. System cost was higher in CT compared to RD (up to 7 times). CONCLUSION: RD are comparable to CT in terms of drainage, pain and complications. Nevertheless, they offer better handling and removal conditions and limited cost.

Adult↗
PubMed2002

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.

Abnormalities, Multiple↗
PubMed2002

One-stage repair of aortic isthmus atresia, aortic arch hypoplasia and ascending aorta aneurysm via midline sternotomy and normothermic perfusion.

One-stage repair of aortic isthmus atresia, aortic arch hypoplasia and ascending aorta aneurysm was performed via a standard midline sternotomy. Ascending aortoplasty was performed during a 19-min cardiac arrest. With the heart beating and continuous normothermic perfusion of the upper and lower part of the body, the aortic arch was then enlarged using the Amato technique and the harvested ascending aorta wall as autologous patch. A classical Crafoord procedure then restored continuity between the aortic arch and the descending thoracic aorta.

Aorta, Thoracic↗
PubMed2001

Relationship of dietary fat and serum cholesterol ester and phospholipid fatty acids to markers of insulin resistance in men and women with a range of glucose tolerance.

High-fat diets are associated with insulin resistance, however, this effect may vary depending on the type of fat consumed. The purpose of this study was to determine the relationship between intakes of specific dietary fatty acids (assessed by 3-day diet records and fatty acid composition of serum cholesterol esters [CEs] and phospholipids [PLs]) and glucose and insulin concentrations during an oral glucose tolerance test (OGTT). Nineteen men and 19 women completed the study. Nine subjects had type 2 diabetes or impaired glucose tolerance. Fasting insulin correlated with reported intakes of total fat (r = .50, P < .01), monounsaturated fat (r = .44, P < .01), and saturated fat (r = .49, P < .01), but not with trans fatty acid intake (r = .11, not significant [NS]). Fasting glucose also correlated with total (r = .39, P < .05) and monounsaturated fat intakes (r = .37, P < .05). In multivariate analysis, both total and saturated fat intake were strong single predictors of fasting insulin (R2 approximately .25), and a model combining dietary and anthropometric measures accounted for 47% of the variance in fasting insulin. Significant relationships were observed between fasting insulin and the serum CE enrichments of myristic (C14:0), palmitoleic (C16:1), and dihomo-gamma-linolenic (C20:3n-6) acids. In multivariate analysis, a model containing CE 14:0 and percent body fat explained 45% of the variance in fasting insulin, and C14:0 and age explained 30% of the variance in fasting glucose. PL C20:3n-6 explained 30% of the variance in fasting insulin, and a model including PL C18:1n-11 cis, C20:3n-6, age and body fat had an R2 of .58. In conclusion, self-reported intake of saturated and monounsaturated fats, but not trans fatty acids, are associated with markers of insulin resistance. Furthermore, enhancement of dihomo-gamma-linolenic and myristic acids in serum CE and PL, presumably markers for dietary intake, predicted insulin resistance.

Adult↗
PubMed2001

Clonal relationships among Shigella serotypes suggested by cryptic flagellin gene polymorphism.

The presence of cryptic fliC alleles in the genomes of 120 strains representative of the four Shigella species was investigated. One fragment was obtained by PCR amplification of fliC, with a size varying from 1.2 to 3.2 kbp, depending on the species or serotype. After digestion with endonuclease HhaI, the number of fragments in patterns varied from three to nine, with sizes of between 115 and 1,020 bp. Patterns sharing most of their bands were grouped to constitute an F type. A total of 17 different F types were obtained from all strains included in this study. A unique pattern was observed for each the following serotypes: Shigella dysenteriae 1, 2, 8, and 10 and S. boydii 7, 13, 15, 16, and 17. On the contrary, S. dysenteriae serotype 13 and S. sonnei biotype e were each subdivided into two different F types. S. flexneri serotypes 3a and X could be distinguished from the cluster containing S. flexneri serotypes 1 to 5 and Y. S. flexneri serotype 6 clustered with S. boydii serotypes 1, 2, 3, 4, 6, 8, 10, 11, 14, and 18 and S. dysenteriae serotypes 4, 5, 6, 7, 9, 11, and 12. Two other clusters were outlined: one comprising S. dysenteriae serotypes 3, 12, 13 (strain CDC598-77), 14, and 15 and the other one joining S. boydii serotypes 5 and 9. None of the 17 fliC patterns was found in the fliC HhaI pattern database previously described for Escherichia coli. Overall, this work supports the hypothesis that Shigella evolved from different ancestral strains of E. coli. Moreover, the method outlined here is a promising tool for the identification of some clinically important Shigella strains as well as for confirmation of atypical isolates as Shigella spp.

Deoxyribonucleases, Type II Site-Specific↗
PubMed2000

Influence of age and normal plasma fibrinogen levels on flow-mediated dilation in healthy adults.

This study examined the effects of age-associated increases in fibrinogen on brachial artery flow-mediated dilation in 30 healthy nonsmokers. The findings demonstrate an inverse association between normal plasma fibrinogen levels and vascular function (r = -0.56, p = 0.001), suggesting elevated plasma fibrinogen may decrease the artery's responsiveness to certain vasodilatory signals, such as shear stress.

Adult↗
PubMed2000

The role of bone scanning in severe frostbite of the extremities: a retrospective study of 88 cases.

We performed a retrospective study of the results of two-phase technetium-99m hydroxymethylene diphosphonate bone scans in 88 patients with severe frostbite of the extremities. All patients were evaluated within 48 h after rewarming and all underwent a first bone scan (BS1) within 5 days after rewarming (median, day 2) (group 1). An excellent correlation was found between absence of tracer uptake in the phalanges and later amputation; this correlation was especially strong during the bone phase of the scans (specificity = 0.99, sensitivity = 0.96, positive predictive value = 0.92). Normal or high uptake in the phalanges was a reliable indicator of ultimate healing (negative predictive value = 0.99). The sensitivity of the examination was enhanced by performing a second scan (BS2) more than 5 days (median, day 8) after rewarming (group 2, n = 36). A comparative analysis of BS1 and BS2 demonstrated that some of the lesions continued to evolve between day 2 and day 8. This suggests that the lesions could still be modified during this period. On the basis of the findings it is recommended that bone scan be performed close to day 2 in all patients who present with lesions extending proximally to include the entirety of one or more phalanges. In the case of severe sepsis, the results of the first bone scan, BS1, can serve as an indication for emergency amputation. BS2 should be performed close to day 8 only if there is an area of low or absent uptake on BS1. It is concluded that scintigraphy is an excellent means of evaluating patients with severe frostbite of the extremities: as early as day 2 after the injury it can indicate whether amputation is necessary, and between days 2 and 8 it provides valuable information on the efficacy of treatment.

Adult↗
PubMed2000

Common apolipoprotein A-IV variants are associated with differences in body mass index levels and percentage body fat.

OBJECTIVE: To determine the relationship between two common apoA-IV variants (Thr347-->Ser; Gln360-->His), and body mass index (BMI) and percentage body fat. DESIGN: Cross-sectional study. SUBJECTS: Eight-hundred and forty-eight subjects screened for participation in ongoing clinical studies. MEASUREMENTS: ApoA-IV genotype, body mass index, waist-to-hip ratio and percentage body fat by bioelectric impedance. RESULTS: Participants had an average age of 41+/-12 y and an average BMI of 28.2+/-5.5 kg/m2. Individuals homozygous for the Ser347 allele had higher BMI (32.3+/-6.6 vs 28.6+/-5.3 kg/m2; P<0.01) and percentage body fat (36.9+/-7.8 vs 31.0+/-9.6%; P<0.05) compared with individuals homozygous for Thr347. In contrast, the presence of at least one copy of the His360 allele was associated with lower BMI (27.2+/-5.0 vs 28.4+/-5.6 kg/m2; P<0.05) and percentage body fat (28.6+/-8.2 vs 30.7+/-9.1%; P<0.05). The genotype effects persisted after normalization of the data for the potential confounding effects of gender, age and race. When grouped by BMI percentile, the frequency of the Ser347/Ser347 genotype increased while the frequency of the His360 allele decreased with increasing BMI. CONCLUSIONS: These data suggest a role for apoA-IV in fat storage or mobilization and that genetic variations in the apoA-IV gene may play a role in the development of obesity.

Adipose Tissue↗
PubMed2000

Distribution of ApoA-I-containing HDL subpopulations in patients with coronary heart disease.

High density lipoproteins (HDLs) and their subspecies play a role in the development of coronary heart disease (CHD). HDL subpopulations were measured by 2-dimensional nondenaturing gel electrophoresis in 79 male control subjects and 76 male CHD patients to test the hypothesis that greater differences in apolipoprotein (apo)A-I-containing HDL subpopulations would exist between these 2 groups than for traditional lipid levels. In CHD subjects, HDL cholesterol (HDL-C) was lower (-14%, P<0.001), whereas total cholesterol and the low density lipoprotein cholesterol/HDL-C ratio were higher (9% [P:<0.05] and 21% [P:<0.01], respectively) compared with control levels. No significant differences were found for low density lipoprotein cholesterol, triglyceride, and apoA-I levels. In CHD subjects, there were significantly (P:<0.001) lower concentrations of the large lipoprotein (Lp)A-I alpha(1) (-35%), pre-alpha(1) (-50%), pre-alpha(2) (-33%), and pre-alpha(3) (-31%) subpopulations, whereas the concentrations of the small LpA-I/A-II alpha(3) particles were significantly (P:<0.001) higher (20%). Because alpha(1) was decreased more than HDL-C and plasma apoA-I concentrations in CHD subjects, the ratios of HDL-C to alpha(1) and of apoA-I to alpha(1) were significantly (P:<0.001) higher by 36% and 57%, respectively, compared with control values. Subjects with low HDL-C levels (</=35 mg/dL) have different distributions of apoA-I-containing HDL subpopulations than do subjects with normal HDL-C levels (>35 mg/dL). Therefore, we stratified participants according to HDL-C concentrations into low and normal groups. The differences in lipid levels between controls and HDL-C-matched cases substantially decreased; however, the significant differences in HDL subspecies remained. Our research findings support the concept that compared with control subjects, CHD patients not only have HDL deficiency but also have a major rearrangement in the HDL subpopulations with significantly lower alpha(1) and pre-alpha(1-3) (LpA-I) and significantly higher alpha(3) (LpA-I/A-II) particles.

Adult↗