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Biomedical subjects

J Weill

Publications and source records attributed to J Weill.

At least 19 recordsLinked to original sources
PubMed1992

Pulsatility of growth hormone secretion and its relation to growth.

84 short children were submitted to nocturnal spontaneous growth hormone (GH) secretion tests and to provocative insulin-arginine tests. Discrepancies between the GH peak under the provocative test (I-AP) and nocturnal GH maximal peak (PA) and mean concentration (MC) were frequently observed, despite significant statistical correlation between I-AP and PA (r = 0.47; p < 0.02) and between I-AP and MC (r = 0.42; p < 0.02). Night profiles were evaluated by time analysis: 31 fitted a theoretical model, consisting of a cosine function of time (modelizable profiles). Spectral analysis, from Fourier transformation, indicated predominant periods after cluster analysis. The major predominant period in modelizable (n = 9) and in nonmodelizable (n = 28) profiles was close to 180 min and a secondary period was on average 122 min in modelizable (n = 20) and 105 min in nonmodelizable (n = 23) profiles. Two modelizable and two nonmodelizable profiles escaped this classification. The general, auxological and GH secretory status did not differ significantly between patients with modelizable and nonmodelizable profils. Growth velocity correlated with GH mean concentration (r = 0.36; p < 0.001), but not with plasma insulin-like growth factor-I levels nor with any of the pulsatility indices: number of peaks, main period, and pulse height index = mean GH peak/mean GH concentration. The relevance of GH pulsatility to growth is, therefore, unclear in humans.

Adolescent↗
PubMed1992

Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.

In Turner patients, the presence of a Y chromosome or derivative Y is correlated with the risk of gonadoblastoma induction. "Marker" chromosomes originating from Y, may not show characteristic fluorescence and then be very difficult to identify by conventional cytogenetic techniques, although they still predispose the patients to gonadal tumors. Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, we screened 40 Turner patients (thirty seven 45X and three 45X,46XX) for the presence of Y chromosomal DNA. We were able to identify karyotypically unrecognized Y chromosome material in 1 patient out of the 40 studied. In this patient mild clinical and biological hyperandrogenism was observed. Reliability of our technique was ascertained by the detection of the expected 648 base pairs amplified DNA fragment in all normal male controls as well as in 3 Turner patients with confirmed 45X,46XY mosaicism. Despite the low frequency of unrecognized Y chromosome material (1 case over 40 in our experience), our data suggest that polymerase chain reaction of the gene from the sex-determining region of the Y chromosome is worthy of being performed in Turner patients considering the potential risk of the presence of a Y chromosome.

Adolescent↗
PubMed1991

Alcohol intoxication and sialic acid in erythrocyte membrane and in serum transferrin.

Microheterogeneity of serum transferrin as well as erythrocyte membrane sialic acid content were examined in alcoholic patients and healthy controls. Both the sialic acid content of erythrocyte membranes and of the circulating transferrin were significantly lower in alcoholic patients than in controls. A moderate daily ethanol intake (less than 80 g) allowed to observe a proportional relationship between alcohol intake and the carbohydrate deficient forms of transferrin, and also a correlation between alcohol intake and the membrane sialic acid content. This supports the hypothesis of ubiquitary alterations of glycosylations in connection to ethanol intoxication. Additional disturbances could explain the absence of correlations between membrane sialic acid, pattern of abnormal forms of serum transferrin, and alcohol intake in heavy alcoholic patients.

Adult↗
PubMed1991

The amount of alcohol intake and some associated factors in a representative sample of 691 French boys aged 13-18.

As a first step in a longitudinal study, we studied a sample of 691 French boys selected at random so that the region, the type of dwelling, and the profession of the wage-earner agreed with the latest official census. About 200 questions were asked by professional interviewers. The amount of alcohol intake was calculated from questions concerning type and amount of drinks consumed on all possible occasions. The mean yearly alcohol consumption was 0.91 liters of pure ethanol at 13-14 years, 2.08 at 15-16, and 5.88 at 17-18 (national average in Frenchmen 15 years and over: 16.5). Alcohol intake increases significantly with frequency of café and public dance attendance in all three age groups. Other factors, such as cigarette smoking, pop concerts or night club attendance, familial environment, show significant difference in only one or two age groups. Type of habitation, number of siblings, church attendance, etc., are not significant.

Adolescent↗
PubMed1991

Apolipoprotein A1 as an early index of protein-energy malnutrition.

Protein-energy malnutrition (PEM) is, together with infectious and parasitic diseases, a major cause of childhood illness in Africa. Diagnosis and treatment of PEM requires an accurate, simple and reliable method of assessing nutritional status from a blood sample. Plasma apolipoprotein (apo A1), prealbumin and albumin were measured in a group of Senegalese children suffering from PEM who had been hospitalized for refeeding, and in a group of control children. Statistical analysis of the results indicated that: (1) Plasma apo A1 was significantly correlated with prealbumin in assessing nutritional status (P less than 0.005 on day 8 of refeeding); (2) plasma apo A1 alone was sufficient for diagnosing and monitoring the dietary treatment of PEM; it was capable of detecting subclinical forms; (3) apo A1 could be used for differential diagnosis of forms of PEM; (4) plasma apo A1 concentration began to increase earlier (94% of control values at day 8) than did prealbumin (73% on day 8). We therefore propose apo A1 as an index of nutritional status in children living in areas where infectious and parasitic diseases are endemic.

Apolipoprotein A-I↗
PubMed1990

Congenital diserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature.

We report the first occurrence of congenital dyserythropoietic anemia type I in monozygotic twins and the seventh familial occurrence to our knowledge. Mild hemochromatosis is present in the two children but has not yet required iron chelation. Moderate growth retardation, which seems to be related to pituitary failure, is also present.

Anemia, Dyserythropoietic, Congenital↗
PubMed1990

Assessment of the reproducibility of nocturnal growth hormone secretion.

The reproducibility of measurements of nocturnal spontaneous secretion of growth hormone (GH) was assessed. The study population consisted of 15 short children with a variety of pathological conditions. Blood samples were taken every 20 min from each subject during sleep on two consecutive nights. The analysis of variance of matched series indicated a global reproducibility, but also demonstrated significant individual variabilities (with-in-subject effect) of both peak amplitude (p = 0.05) and mean concentration (p = 0.02). We did not find any link between the variation of the GH parameters and the variations of the clinical sleep score in 11 patients.

Analysis of Variance↗
PubMed1990

[Increase of serum gamma-glutamyl transferase activity in diabetic patients is not linked to diabetes itself].

In order to assess the relationship between increase of gamma-glutamyl transferase and diabetes, we measured serum gamma-glutamyl transferase in 48 male and 43 female insulin-dependent diabetics aged 20-60 years, 49 male and 41 female non insulin dependent diabetics aged 30-60 years, and in 114 male and 124 female controls (blood donors) aged 20-60 years. A1C haemoglobin was assayed in 124 diabetics. There is no increase of serum gamma-glutamyl transferase activity in insulin dependent diabetics of both sexes when compared with the controls. There is an increase of serum gamma-glutamyl transferase activity in non insulin dependent diabetics when compared either with controls (men p less than 0.02, women p less than 0.02) or with insulin dependent diabetics (men p less than 0.05, women p less than 0.02). There is no correlation between serum gamma-glutamyl transferase activity and fasting blood sugar (148 diabetics). In non insulin dependent diabetics of both sexes there is no correlation between A1C haemoglobin and serum gamma-glutamyl transferase activity. These results suggest that the increase observed in diabetics is not caused by diabetes itself, ie, by hyperglycemia, but by diabetes associated pathologies.

Adult↗
PubMed1990

[Macroprolactinemia in a child].

An hyperprolactinemia, with basal serum prolactin levels ranging from 41 to 135 ng/ml was found to be coincidentally associated with psychosocial dwarfism in a 11 year-old boy. Sephadex G 100 exclusion chromatography showed that the predominating form of immunoreactive prolactin levels ranging from 41 to 135 ng/ml was found to be weight, differing from the regular occurrence of a 22 kilodalton major variant. Prolactin levels increased under TRH (increments between 29 and 76%) but were not blunted by bromocriptine at a dose of 2.5 mg/day. This so-called macroprolactinemia syndrome should be searched for whenever a discrepancy is noted between clinical symptoms and blood prolactin levels.

Adolescent↗
PubMed1990

[Transient complete somatotropin insufficiency. A retrospective study].

Two groups of patients with short stature and a limitation in the growth hormone (GH) response (peaks of 10 mU/l or below in response to 2 stimuli) differed by their GH responses at puberty: normalisation in group 1 (12 patients) and lack of normalisation in group 2 (13 patients). The condition of the patients of group 1 appeared to be less severe as judged by their initial height deficiency, their growth velocity and their GH peaks. Sex steroid hormone priming tests were highly discriminative, especially for the GH response to insulin stimulation. Other pituirary hormone deficiencies were never found in group 1, but did occur in group 2. Finally the beneficial long term effect of hGH therapy was questionable in group 1 in that there was no difference between the final heights of the treated (n = 7) and the untreated (n = 5) patients.

Adolescent↗
PubMed1989

Kinetics of serum glutamate dehydrogenase during short-term alcohol withdrawal.

The behavior of serum glutamate dehydrogenase after alcohol withdrawal was studied in 64 alcoholics admitted to a detoxification center. The enzyme activity decreased in 57 patients by a median of -35.8 percent in 24 h. Thus, the decrease of serum glutamate dehydrogenase after 24 h of ethanol abstinence can serve as a test of alcohol abuse.

Adult↗
PubMed1989

Assessment of the transferrin index in screening heavy drinkers from a general practice.

The aim of this study was to assess the performance of the transferrin (Tf) index in screening heavy drinkers and to compare its performance to that of gamma glutamyl transpeptidase (GGT). Tf index, GGT, and transaminase activities were determined in a group of 173 subjects (49% males) recruited in a family doctor's practice (age: 54 +/- 1.5 yr; daily alcohol intake: 32 +/- 3.5 g; mean +/- SEM). Tf subfractions were quantified by isoelectric focusing and immunofixation on polyacrylamide gel. The Tf pl 5.7 to 5.4 ratio, or Tf index, was used as a marker of excessive drinking, with a cut-off point at 7%. Alcohol consumption was assessed through a face-to-face interview. Excessive drinkers were defined as those with a daily alcohol intake greater than 80 g over at least 2 years; 20 were classified as excessive drinkers (alcohol consumption: 92-232 g/day). All but four had normal transaminase activities indicating the low prevalence of hepatic impairments in this sample. The Tf index was found to have a sensitivity of 45%, specificity 89%, positive predictive value 35%, negative predictive value 92%. The corresponding results for GGT were 52%, 80%, 27%, and 92%, respectively. Concordance between the Tf index and GGT was assessed by the kappa coefficient (kappa) which was 0.22 indicating poor agreement between the two markers in selecting excessive drinkers (perfect association: kappa = 1, no association: kappa = 0).

Alcoholism↗
PubMed1989

Evaluation of carbohydrate-deficient transferrin compared with Tf index and other markers of alcohol abuse.

It has been known for some years that a partial deglycosylation of transferrin occurs in the sera of alcohol abusers. Different methods have been proposed in order to evaluate this carbohydrate-deficient fraction of serum transferrin. Chromatofocusing or isoelectric focusing followed by direct immunofixation have been used until now. Recently, a new method called the carbohydrate-deficient transferrin (CDT) test based on ion-exchange chromatography has been developed by Stibler et al. (Alcohol Clin Exp Res 10:535-544, 1986). Here we compare this new method with results obtained using our Tf index determination method. The upper limit of normal values was set to the 90th percentile of the values observed in a reference population. The population under investigation consisted of 50 healthy volunteers and 160 alcohol abusers whose ethanol consumption was evaluated through a questionnaire. Sensitivity and specificity of the CDT test have been found higher than 0.76 and 0.90, respectively. The correlation between both methods was 0.794, a satisfactory result considering that the CDT test and the Tf index do not exactly measure the same part of the carbohydrate-deficient transferrin. In a population of 23 patients with liver diseases not related to alcohol abuse, no abnormal CDT value was observed. We can conclude from these results that the CDT test now seems to be the best test to detect alcohol abusers.

Adolescent↗
PubMed1989

[Ichthyosis linked to the X chromosome. Biochemical and endocrinologic study].

The case of a 6-year-old male patient suffering from X-chromosome-linked ichthyosis is presented. There was no steroid sulfatase activity in the proband's leucocytes and cutaneous fibroblasts. The activity was decreased in the proband's mother's leucocytes and in one brother, affected by a mild ichthyosis. Basal plasma levels of dehydroepiandrosterone and its sulfate were normal for the patient's age, suggesting that sulfates do not play a significant role in the production of free steroids. After 3 intramuscular injections of 1,500 units of human chorionic gonadotropin, plasma levels of testosterone increased normally, indicating that there was no associated primary gonadal insufficiency.

Child↗
PubMed1987

Serum desialotransferrin in the detection of alcohol abuse. Definition of a Tf index.

Different molecular forms of transferrin (Tf) have been separated in sera from alcoholics and controls by isoelectric focusing on ultrathin polyacrylamide gels using a semi narrow pH range. The main fraction focused at pH 5.4 (Tf5.4) and minor components appeared among controls at pH 5.7 (Tf5.7). This fraction was increased among alcoholics and was sometimes accompanied by a fraction focusing at pH 5.9 (Tf5.9). Fractions were quantified by densitometry following immunofixation. Significant differences in the ratios Tf5.4/Tf and Tf5.7/Tf between the groups were obtained, but no difference could be determined in the total Tf. We used the ratio Tf5.7/Tf5.4 called Tf index to distinguish alcoholics from controls. The sensitivity, the specificity and the global predictive value of this test were 0.82, 1 and 0.88 respectively. These results seems to indicate that the Tf index is more reliable for the detection of alcohol abuse than liver enzymes such as gammaglutamyl transferase (gamma GT) or glutamate dehydrogenase (GDH).

Adult↗
PubMed1987

Serum desialotransferrin in the detection of alcohol abuse.

We developed a method for the quantification of the different fractions of serum transferrin, based on an isoelectric focusing followed by immunofixation. We employed this technique to study whether or not the pattern of the serum transferrin was altered in the serum of drinkers. We established an increase of the fraction that focused at 5.7 (Tf5.7) and a concomittant decrease of the fraction that focused at 5.4 (Tf5.4) in the sera of drinkers. The separation between drinkers and controls was enhanced when using the ratio Tf5.7/Tf5.4, called Tf index. The predictive value of this test was 0.88, which means that 88% of the subjects were correctly classified as heavy drinkers or not.

Adult↗
PubMed1987

[Increase in the desialylated forms of serum transferrin and alcohol consumption].

In order to study a possible modification, secondary to alcohol consumption, of the distribution of various molecular forms of transferrin, we have compared its total serum concentration with that of several fractions in reference groups and excessive drinkers. The study was conducted in 50 patients; 35 drinkers admitted for detoxication, and 15 in the control group. The percentage of transferrin focalizing at pH 5.7 (Tf 5.7) is significantly higher in drinkers while the transferrin concentration is almost unchanged. During the weaning period, we observed a significant decrease of Tf 5.7 in two weeks. This parameter seems to be extremely sensitive regarding alcohol consumption; its specificity should be evaluated before coming to the conclusion that it present a definite advantage in the screening of excessive drinkers.

Alcohol Drinking↗