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Biomedical subjects

J Weill

Publications and source records attributed to J Weill.

At least 19 recordsLinked to original sources
PubMed2005

Influence of social class on time trends in BMI distribution in 5-year-old French children from 1989 to 1999.

AIMS: To assess the prevalence of obesity and changes in body mass index (BMI) distribution between 1989 and 1999 in 5-y-old children, and to study the influence of parental socioeconomic status on these parameters. METHODS: Two cohorts of children in the final year of nursery school (in the city of Lille, France) were enrolled in 1989 (705 children: mean age=5.6+/-0.4 y) and 1999 (1258 children: mean age=5.6+/-0.5 y). Weight and height were measured, and data about parental occupation were collected during a school medical examination. International Obesity Task Force cutoff points were used to define overweight and obesity. Parental occupation was classified into four categories. RESULTS: The prevalence of obesity increased from 1.8 to 4.9%, and the prevalence of overweight rose from 9.6 to 16.9%. Mean-difference plots allowed qualitative comparisons of the BMI distribution between the surveys: for children from the highest social classes, there was no change in BMI; for children from intermediate classes, there was a up-shift only in the upper part of the distribution with the heaviest children becoming heavier still; finally, for children from the lowest class, there was an increase in BMI across the entire population. CONCLUSIONS: This study of the changes in BMI distribution gives greater insight into the 'obesity epidemic'. Our results show the influence of an interaction between genetic and environmental factors. The increase in BMI in the upper part of the distribution suggests that this is a population with a high degree of susceptibility, whereas the increase in BMI across the whole population in the lowest social class suggests a strong influence of the environment on this group and thus the necessity of appropriate, preventive measures.

Age Distribution↗
PubMed2002

CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect.

Several studies have demonstrated an association of cytotoxic T lymphocyte-associated molecule 4 (CTLA-4) (IDDM 12) alanine 17 with type 1 diabetes, but we wished to study the parental effect of CTLA-4 49 A/G dimorphism in diabetic families. The CTLA-4 exon 1 polymorphism (49 A/G), HLA-DRB1 and insulin gene (INS) variable number tandem repeats (VNTR) were analysed in 134 type 1 diabetic patients vs. 273 control subjects. The segregation analysis for transmission was carried out in 70 informative diabetic families using the transmission distortion test (TDT). All genotyping was performed by PCR-RFLP. CTLA-4 49 G allele frequency was not increased in diabetic patients compared to controls (41 vs. 38%, not significant). The distribution of GG, AG and AA CTLA-4 genotypes was similar in the two groups (13, 57 and 30% vs. 11, 54 and 35%, respectively) and was independent of HLA-DRB1 or INS VNTR polymorphism. The CTLA-4 49 G allele showed weak distorted transmission to the diabetic offspring, whereas random transmission was observed in unaffected offspring. This distortion is attributable to a maternal effect (71% compared to the 50% expected ratio; tdt = 4.8; P < 0.03). The combined transmission of maternal CTLA-4 G with HLA-DRB1*03 (90%; tdt = 6.4; P < 0.01) and VNTR class I (80%; tdt = 5.4; P < 0.02) enhanced the susceptibility effect of each marker separately. We noted a slight CTLA-4 49 G and HLA-DRB1*04 distortion of transmission shared in paternal and maternal diabetic meiosis. In non-diabetic offspring, the CTLA-4 49 A allele confers a protective effect in the presence of maternal HLA-DRB1*03 and paternal HLA-DRB1*04 alleles. Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. This potential parental effect needs to be confirmed in a larger data set.

Adenine↗
PubMed2002

Mutation screening of the urocortin gene: identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.

A linkage between obesity-related phenotypes and the 2p21-23 locus has been reported previously. The urocortin (UCN) gene resides at this interval, and its protein decreases appetite behavior, suggesting that UCN may be a candidate gene for susceptibility to obesity. We localized the UCN gene by radiation hybrid mapping, and the surrounding markers were genotyped in a collection of French families. Evidence for linkage was shown between the marker D2S165 and leptin levels (LOD score, 1.34; P = 0.006) and between D2S2247 and the z-score of body mass index (LOD score, 1.829; P = 0.0019). The gene was screened for SNPs in 96 obese patients. Four new variants were established. Two single nucleotide polymorphisms were located in the promoter (-535 A-->G, -286 G-->A), one in intron 1 (+31 C-->G), and one in the 3'-untranslated region (+34 C-->T). Association studies in cohorts of 722 unrelated obese and 381 control subjects and transmission disequilibrium tests, performed for the two frequent promoter polymorphisms, in 120 families (894 individuals) showed that no association was present between these variants and obesity, obesity-related phenotypes, and diabetes. Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity.

Adult↗
PubMed2000

Increased level of interferon-alpha in blood of patients with insulin-dependent diabetes mellitus: relationship with coxsackievirus B infection.

The activation of the interferon (IFN)-alpha system and its relationship with coxsackievirus B (CVB) infection has been analyzed in 56 patients with insulin-dependent diabetes mellitus (IDDM; 25 children and 31 adults). Elevated levels of IFN-alpha were found in plasma of 70% of patients (39/56), and a positive detection of IFN-alpha mRNA in blood cells by reverse transcriptase-polymerase chain reaction (RT-PCR) was observed in 75% of patients (42/56). Enterovirus (EV) RNA assayed by seminested RT-PCR was detected in the blood of 50% of IFN-alpha-positive patients but not in any IFN-alpha-negative patients. The results of genotype analysis of amplified EV RNA sequences (5 CVB2, 8 CVB3, and 8 CVB4) were concordant with the results of CVB-neutralization tests. The comparison between IFN-alpha, EV RNA, and serology suggested that the proportion of CVB infection associated with IFN-alpha positivity might be higher than is predicted from the investigation of EV RNA. Together, the results suggest that, in a majority of cases, a CVB infection is associated with clinical IDDM.

Adolescent↗
PubMed1999

[Type Ib pseudohypoaldosteronism: clinical aspects and nosological problems. Apropos of 3 cases].

BACKGROUND: Type Ib pseudohypoaldosteronism is a congenital disorder characterized in the newborn by salt loss caused by multiple end-organ resistance to aldosterone. An autosomal recessive mode of inheritance has been reported. Its particularity is the spontaneous improvement by 18 months to 2 years, due to an improved tubular response of the kidneys to mineralocorticoids, or earlier when given salt supplements once the diagnosis is made. OBSERVATIONS: We observed three children with this disease, which was revealed by day 8 to day 15 of life; one of these presented respiratory symptoms identical to those of cystic fibrosis, and another one an apparently chance association with a rod myopathy. CONCLUSION: Recent findings in the literature demonstrate the molecular aspects of pseudohypoaldosteronism and lead to an interesting comparison with cystic fibrosis by explaining their similar physiopathology through the activity of epithelial sodium channels.

Age Factors↗
PubMed1999

[Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996].

AIM: The results of the neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by 17-hydroxyprogesterone measurement from blood spot on blotting-paper in 408,138 newborns in the French Nord-Pas-de-Calais region from 1980 to 1996 are reported. METHODS: This measurement successively used a tracer tritium labelled (RIA H3), 125 iodine (RIA I125), then immunofluorometric method (Delfia). From 1992, sampling was systematically performed at the third day of life. RESULTS: Thirty-three cases were detected and confirmed (20 boys and 13 girls). Diagnosis was made before recalling on a clinical basis in three boys and eight girls. In 22 cases (17 boys and five girls) when diagnosis was not made before recalling, it could have been suspected in three girls because of a sex ambiguity once associated with dehydration and in eight boys because of failure to thrive (six times) or a marked dehydration (twice). Lack of sex ambiguity in two girls characterized non classical form of the illness. These two patients benefited from the early detection of the illness on growth data. Out of 49 subjects who died before recall, three could be suspected of bearing 21-hydroxylase deficiency. One single false negative case was found, which led to decrease cut-off value. On the other hand, false positive cases were frequent (0.37%), mainly in premature newborns (88% of cases). CONCLUSION: Although decrease of median age for recall at 7 days did not prevent the occurrence of two cases of dehydration, neonatal screening of 21-hydroxylase deficiency appears to be efficient, as far as diagnostic strategy is considered.

17-alpha-Hydroxyprogesterone↗
PubMed1996

Liver function tests in normal pregnancy: a prospective study of 103 pregnant women and 103 matched controls.

Except for increased serum alkaline phosphatase (AP) levels, the changes in liver function test (LFT) values during normal pregnancy have not been clearly established, mainly because most studies do not include matched controls. We therefore measured the serum values of routine liver tests including 5'-nucleotidase and total bile acids in 103 healthy pregnant women (first trimester, n = 34; second trimester, n = 36; third trimester, n = 33) and in 103 age-matched controls not receiving oral contraception. Fasting blood samples were taken. Because of hemodilution, serum albumin levels were significantly lower during all trimesters. As expected, AP activity was significantly higher in the third trimester. Serum aspartate transaminase (AST) activity and total bile acid (TBA) concentrations did not differ between pregnant and nonpregnant women. Serum alanine transaminase (ALT) activity was slightly higher in the second-trimester pregnant women than in controls (6.8 +/- 4.5 vs. 8.2 +/- 5.8, P = .04), although all values remained within normal limits. In pregnant women, total and free bilirubin concentrations were significantly lower during all three trimesters, as was conjugated bilirubin during the second and third trimesters. Serum gamma-glutamyl transpeptidase (GGT) activity was significantly lower in the second and third trimesters. Serum 5'-nucleotidase activity was slightly but significantly higher in the second and third trimesters. The knowledge of these results is useful for the interpretation of LFT values and the management of liver diseases during pregnancy.

5'-Nucleotidase↗
PubMed1996

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

Alström syndrome is an autosomal recessive disorder characterized by cone-rod dystrophy, obesity, hearing impairment, and diabetes caused by insulin resistance. By reviewing the charts of eight patients followed for periods of 2 to 22 years, we established the natural history of this syndrome during childhood. Five patients, in four families, were seen between the ages of 3 weeks and 4 months with a dilated cardiomyopathy, a previously unrecognized feature of the syndrome. Photophobia and nystagmus were first documented in the eight patients between the ages of 5 months and 15 months. In all patients, electroretinography initially showed a severe cone impairment with mild (2/8) or no (6/8) rod involvement. Electroretinograms, obtained again at ages 9 to 22 years for four patients, revealed extinguished rod-and-cone responses. Obesity developed during childhood in seven patients, in at least three of them before age 2 years. Hearing impairment (5/8) and diabetes/glucose intolerance (4/8) were diagnosed at the end of the first decade or during the second decade. This constellation of features should facilitate early diagnosis of the syndrome.

Adolescent↗
PubMed1996

Nephelometric determination of carbohydrate deficient transferrin.

We describe a technique for measuring carbohydrate-deficient transferrin (CDT) in serum. Serum transferrin fractions are separated by anion-exchange chromatography on microcolumns. Sialic acid-deficient transferrin fractions are collected in the eluate, and transferrin is then quantified by a rate-nephelometric technique. Imprecision (CV) was 4-5% within-run and 7-9% between runs (n = 15). Comparison with an isoelectric focusing-immunofixation method for transferrin index (x) yielded y = 761x + 7, Sy/x = 39 mg/L. Assay of sera from 90 abstainers or moderate consumers of alcohol showed that 81 (90%) had CDT concentrations between 30 and 70 mg/L. Among 74 alcoholics admitted to an alcohol treatment center, 54 (73%) had CDT > 70 mg/L, i.e., the diagnostic sensitivity was 73% at a specificity of 90% (area under receiver-operator characteristic curve = 0.891).

Adolescent↗
PubMed1994

Factors predictive of alcohol consumption in a representative sample of French male teenagers: a five-year prospective study.

In 1985 we surveyed 691 French male teenagers aged 13-18 years. Two thirds of the same sample was again surveyed in 1990. Average consumption was 3.2 1 ethanol/year in 1985 and 7.2 in 1990. The boys who drank least in 1990 were docile, contented, religious, and already well aware of the dangers of alcohol in 1985. They smoked less, drank less coffee and went out little. The heaviest drinkers in 1990 were dissatisfied with life, unconstrained and pessimistic in 1985. They went out a lot, smoked more and drank more coffee. We intend to survey the sample again in 1995.

Adolescent↗