Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene.
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Amino Acid Substitution↗
Biomedical subjects
M Bost
Publications and source records attributed to M Bost.
CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.
We report clinical, genetical and genealogical findings in 149 French families from the Rhône-Alpes area studied over a 5-year period. There was a significant excess of DM females compared to DM males with (CTG) repeat sizes between 1-2 kb. The mean maternal (CTG) repeat size was higher than paternal repeat size. Anticipation phenomenom was significantly higher after maternal than after paternal transmission. A significant correlation between parental (CTG) repeat size and intergenerational variation both in paternal and maternal transmissions was observed. The anticipation phenomenom was more important for sons than daughters particularly after maternal transmission. The mean (CTG) repeat size in mothers of CDM cases was about twice that of mothers of NCDM children. The risk of giving birth to a CDM child increased considerably when the number of maternal (CTG) repeats was over 300 (CTG). A significant excess of DM females was observed. They had on average 24% fewer children than male patients. Paternal transmission (63.6%) of DM occurred more frequently than maternal transmission (52.7%).
Female↗
Effect of selenium and vitamin E supplementation on lipid abnormalities in plasma, aorta, and adipose tissue of Zucker rats.
Twenty-nine obese female Zucker rats (fa/fa) were fed with a laboratory chow supplemented or not with a selenium-rich yeast (Selenion), or Selenion + vitamin E, or vitamin E alone. Twelve lean female Zucker rats (Fa/Fa) of the same littermates fed with the same diet were used as control. After 32 wk of diet, obesity induced a large increase in plasma insulin and lipid levels. A significant decrease in the plasma vitamin E/triglycerides ratio (p<0.005) and an increase in plasma thiobarbituric reactive substances (TBARS) (p<0.005) were also observed. Plasma selenium and vitamin E increased in all supplemented rats. The plasma insulin level was decreased by selenion supplementation and the vitamin E/triglycerides ratio was completely corrected by double supplementation with Selenion + vitamin E. TBARS were also efficiently decreased in two obese groups receiving vitamin E. In plasma, adipose tissue and aorta, obesity induced an increase in palmitic acid (C16:0), a very large increase in monounsaturated fatty acids (palmitoleic acid C16:1, stearic acid C18:1) associated with a decrease in polyunsaturated n-6 fatty acids (linoleic acid C18:2 n-6, arachidonic C20:4 n-6). These alterations in fatty acid distribution were only partly modulated by Se and vitamin E supplements. However, in the aorta, antioxidant treatment in obese rats significantly reduced the increase in C16:0 and C16:1 (p<0.05 and p<0.01, respectively) and the decrease in arachidonic acid (p<0.05). These changes could be beneficial in the reduction of insulin resistance and help to protect the vascular endothelium.
Adipose Tissue↗
Effect of selenium and vitamin E supplements on tissue lipids, peroxides, and fatty acid distribution in experimental diabetes.
The protective role of selenium (Se), given as a Se-rich yeast, selenomethionine or selenomethionine + vitamin E supplement, toward changes in lipid, peroxide, and fatty acid distribution in tissues of streptozotocin-induced diabetic rats, was investigated, after 24 wk of disease. Diabetes increased liver thiobarbituric acid-reactive substances and conjugated dienes; Se supplement completely corrected these changes. In kidney, as in heart, the peroxide levels were not significantly changed by diabetes. In diabetic rat liver, a significant drop in triglycerides and phospholipids (P < 0.05) was observed; this was modulated by Se + vitamin E supplementation. Se + vitamin E supplementation also inhibited the decrease in 18:2n-6 and the increase in 22:6n-3 observed in liver of diabetic rats, changes which reflect altered glycemic control. In kidney, heart, and aorta, diabetes produced some changes in lipid content and fatty acid distribution, especially an increase in heart triglycerides which was also corrected by the Se supplement. Se supplementation to diabetic rats also increased 18:0 ether-linked alcohol, 20:4 n-6, and 22:5 n-3 in cardiac lipids. In aorta, Se + vitamin E significantly increased 20:5 n-3. These polyunsaturated fatty acids are precursors, in situ, of prostaglandin I2 (PGI2) and PGI3 which may protect against cardiovascular dysfunction. In kidney, conversely, Se decreased 20:4 n-6, the precursor of thromboxane A2 implicated in diabetic glomerular injury. Thus Se, and more efficiently Se + Vitamin E supplementation, in experimental diabetes could play a role in controlling oxidative status and altered lipid metabolism in liver, thereby maintaining favorable fatty acid distribution in the major tissues affected by diabetic complications.
Animals↗
A 5-year follow-up study of suicide attempts among French adolescents.
PURPOSE: The social, medical, and psychological outcomes of 552 adolescents hospitalized subsequent to an attempted suicide were assessed after an average 5-year follow-up period. METHODS: Evaluation took place by means of mailed questionnaires completed by the adolescents, their parents, and the general practitioner. Using regression analysis, responses were compared with those of a comparison group (n = 273). RESULTS: In the suicidal group, the mean annual mortality rate was seven-fold greater than in the general population of the same age. Education level was lower, and the consumption of alcohol, psychiatric hospitalizations, and contacts with the criminal justice system were more frequent than in the control group. No other variables explored were significantly different between the two groups. CONCLUSIONS: The results of this study carried out on a large sample of French suicidal adolescents tend to confirm results of previous studies performed in other countries. They show that the prognosis for the suicidal adolescent group is less favorable than that of the comparison group.
Adolescent↗
Three-year data from a comparative study with recombinant human growth hormone in the treatment of short stature in young children with intrauterine growth retardation.
Growth acceleration and bone maturation were studied for 3 y in 69 children with severe short stature and a history of intrauterine growth retardation (IUGR), to determine the effect of treatment with recombinant human growth hormone (r-hGH). The patients were enrolled in an open, multicentre trial and were randomly allocated to either the treated group (Group 1) or the control group (Group 2). The children in Group 1 were treated daily with 0.2 IU/kg/body weight (0.067 mg/kg) s.c., during 3 y and the children in Group 2 started the study with a 1-y observation period followed by a 3-y treatment period. At birth, their mean weight standard deviation score (SDS) was -2.5 and their mean length SDS -3.5. At baseline, the patients were prepubertal, non-GH deficient, with no known dysmorphic features. Mean age was 4.5 y, bone age was 3.3 y, height SDS was -3.4, height velocity (HV) SDS was -1.6, and body mass index SDS was -1.4. After 1 y of treatment, linear HV in Group 1 increased in comparison with the pre-treatment period (from 5.7 +/- 2.0 to 10.1 +/- 1.7 cm/y; p < 0.001) and with the first year of observation in Group 2 (p < 0.001). Increased HV was sustained during the second and third year of treatment and was significantly higher than at baseline. A similar growth pattern was seen during the 3 y of GH treatment in Group 2. Mean height SDS for chronological age increased by 2.0 +/- 0.7 in the two groups after 3 y of treatment. HV after 1 y of treatment was negatively correlated with growth velocity at baseline. Bone age remained retarded but increased with a mean of almost 4 y after 3 y of treatment in both groups. Even at a dose that is three times the replacement dose treatment with r-hGH was well tolerated. From these results, we conclude that r-hGH treatment over 3 y can induce sustained catch-up growth in young children with severe short stature and a history of IUGR. Long-term studies are needed to assess ultimate effects on final height.
Adolescent↗
Contribution to chromium and nickel enrichment during cooking of foods in stainless steel utensils.
Nickel ingestion can cause exacerbation of dermatitis in patients who are already nickel-sensitive; Chromium (Cr VI) is the 2nd allergen, after nickel. However, stainless steel is widely used in home cookware. In this study, we determined nickel and chromium levels by atomic absorption spectrometry in 11 habitual menus cooked in different grades of stainless steel utensils. We noted a great difference in nickel and chromium intake depending on the menu, and a significant difference between the glass and stainless steel saucepans, but this was very low compared with the levels of nickel and chromium contained in the menus; mean intakes of these elements were under the tolerable daily intake (TDI) recommended by the World Health Organization. Hence, there is no advantage for nickel-sensitive patients in switching to materials other than stainless steel, provided that this is of good quality.
Allergens↗
Retinal changes mimicking diabetic retinopathy in two nondiabetic, growth hormone-treated patients.
A role for GH in the pathogenesis of diabetic retinopathy has long been postulated. Previous clinical studies, however, have been confounded by hyperglycemia. We have identified 2 cases of retinopathy associated with exogenous GH therapy in nondiabetic patients. Cases were identified through the MedWatch drug surveillance system of the U.S. Food and Drug Administration. Causality by concomitant medications was excluded by a search of the literature and the FDA data base. The first patient, an obese, 31-yr-old male with traumatic hypothalamic injury, presented with nonproliferative retinopathy and macular edema, resulting in decreased visual acuity (OD 20/40-1; OS count fingers), which required laser surgery. Human GH had been initiated at 0.009 mg/ kg.day, 14 months earlier, and titrated to 0.017 mg/kg.day. The second patient, a nonobese, 11-yr-old girl receiving GH for the management of short stature in Turner's Syndrome, presented with neovascularization. GH doses were 0.033 mg/kg.day for the first 17 months and 0.043 mg/ kg.day for the following 5 months. Cumulative laboratory and clinical observations suggest that GH and related peptides have a role in retinal pathology independent of the degree of glucose tolerance.
Adult↗
[Aneurysm of the vein of Galen and cardiac insufficiency. Current therapeutic approach].
Aneurysm of the ampulla of Galien is a rare but serious cause of cardiac failure in the neonate or child. The diagnosis is suspected on finding a continuous murmur on auscultation of the skull. It is an intracranial arterio-venous malformation which is sometimes responsible for a very important shunt between the arterial (carotid or vertebral) and venous systems. The vital and neurological prognosis of these children is classically very poor. The authors report the cases of the last three consecutive children aneurysms of the ampulla of Galien followed up at Grenoble Hospital in the last five years. The clinical presentations were very different, corresponding to the usual three forms described in the literature: a reputedly very severe form with cardiac failure at the 3rd day of life requiring multiple percutaneous embolisations; a neonatal form revealed by an isolated macrocranium; and a form diagnosed late (4.5 years) in the investigation of effort dyspnoea which regressed after two sessions of embolisation. All three children are alive and have normal psychomotor development for their age. A multidisciplinary approach involving neonatal physicians, paediatric cardiologists and neurologists, with complementary non-invasive investigations such as transfontanellar ultrasonography, electroencephalography, MRI and echocardiography are necessary to optimise the management and limit the neurological sequellae in children with this type of malformation. Cerebral arteriography and percutaneous embolisation under general anaesthesia by a trained team gave very good medium-term results in two of these cases, lightening the usual pessimism surrounding this condition.
Cardiomegaly↗
Localized thrombotic purpura: a rare complication of chickenpox.
We report three cases of localized thrombotic purpura that appeared during the convalescence phase of common chickenpox. This rare complication is characterized by localized symmetric ecchymotic purpura often affecting the lower limbs and often accompanied with signs of disseminated intravascular coagulation. In two cases we found transient protein S deficiency.
Chickenpox↗
[Psychological effects of parental separation on children].
A study on the psychological consequences of parental separation on children was performed among 3,098 pupils of first year secondary school during the 1995-1996 academic year in the department of Isère. The children family situation was compared with the results of personality test of Coopersmith (SEI). The main characteristics of the children, in particular family condition such as parental death or parental separation are in agreement with the French national data. Among the children with separated parents, 29% were less than 3 years old when their parents broke up. In 85% of the cases the child lived mainly with his/her mother, in 9% of the cases with his/her father, in 4% of cases in a joint-custody arrangement, in 1% of the cases in an other person's home. The overall SEI scores were good. There was a significant overrepresentation of girls with extreme scores. Compared with the scores of the children of unseparated parents, the average SEI scores were low for children with separated parents and for children with one dead parent, but differences were observed between girls end boys. The age of children at the time of the separation did not influence the SEI score and there was little influence of the father-child regular contacts.
Child↗
Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.
The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.
Amniocentesis↗
[Congenital toxoplasmosis: contribution of postnatal biological follow-up].
OBJECTIVES: The diagnosis of congenital toxoplasmosis includes a postnatal follow-up, often preceded by a prenatal diagnosis. The aim of our study was to assess the performances of the different techniques used and the value of the samples in the postnatal biological diagnosis. METHODS: The methods available between 1985 and 1993 consisted in the detection of: i) Toxoplasma gondii in the placenta; ii) anti-T. gondii IgM in infant's blood by enzyme-linked immuno-sorbent assay (ELISA), immuno-sorbent agglutination assay (ISAGA) and indirect immuno-fluorescence (IFI), and anti-T. gondii IgG by ELISA and IFI; and iii) neo-synthetized anti-T. gondii IgG and IgM by enzyme-linked immuno-filtration assay (ELIFA). RESULTS: Among 400 cases of seroconversion diagnosed during pregnancy, a sure diagnosis with complete follow-up could be established for 104 infants; 37 of them had proven congenital toxoplasmosis (CT+) while 75 had no congenital toxoplasmosis (CT-). Biological arguments supporting congenital toxoplasmosis had been observed as early as birth in 78.4% of CT+ cases and before two months in 94.6%. The serologic tests were positive in 88.2% of CT+ cases by ELIFA, in 73.0% by ISAGA, in 43.3% by ELISA M and in 14.0% by IFI M. ELIFA was the less specific method (91.3%). CONCLUSION: The sensitive techniques (ELIFA and ISAGA), were essential for the instant follow-up to detect toxoplasmic infection as early as birth.
Animals↗
In vitro and in vivo effects of selenium and selenium with vitamin E on platelet functions in diabetic rats relationship to platelet sorbitol and fatty acid distribution.
In vitro 30 min of incubation with selenomethionine (Sm) + vitamin E multiplied by about five platelet selenium (Se) decreased significantly platelet thrombin and ADP-induced aggregation decrease. Four groups of streptozotocin-induced diabetic rats were fed with a supplemented purified diet with an Se-rich yeast (Selenion): DSel, Sm: DSm, Sm alpha-tocopherol: DSmE or unsupplemented diet: D. After 24 wk of supplementation, only a decrease in thrombin-induced aggregation in group DSel compared to DSm and DSmE and D was observed. However, after 24 wk of diet compared to 14 wk, in group D and DSm, a significant increase in thrombin-induced aggregation occurred (p < 0.0001), whereas a significant decrease in groups DSel and DSmE (p < 0.0001, p < 0.03) was noted. After 21 wk of diet, in DSmE, platelet adhesion to fibronectin was significantly decreased compared to group D (p < 0.05). These changes in DSmE were associated with a significant decrease in platelet sorbitol (p < 0.02) and a very significant increase in platelet Se (p < 0.0005). Sm associated with vitamin E would appear more efficient to prevent oxidative damage of diabetic platelet membrane and thus to modulate its hyperactivity.
Adenosine Diphosphate↗
Herpes zoster ophthalmicus with delayed contralateral hemiplegia.
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Acyclovir↗
Modelization of motor nerve conduction velocities for Charcot-Marie-Tooth (Type-1) patients. CMT-France Network.
Charcot-Marie-Tooth (CMT) type-1 (CMT1) neuropathy is characterized by peripheral nerve demyelination and has been divided into several subtypes. The most frequent among these, subtype 1A, is related to a microduplication of the region p11.2 of chromosome 17. This region contains the PMP-22 gene which is involved in peripheral nerve myelination. Since motor nerve conduction velocity (MNCV) is closely related to nerve myelination, we compared type-1A patient MNCVs versus non-A CMT1 patient MNCVs, in 57 CMT1A patients and 21 non-A type-1 patients. Patients with the 17p11.2 duplication have MNCVs that are significantly more reduced (about 20 m/s) compared to patients without the 17p11.2 duplication (about 30 m/s). This study also permits a model of the MNCV in the median nerve (MedMNCV) of CMT1 patients, with age, gender and molecular status as parameters. Furthermore, in order to help clinicians to diagnose subtypes of CMT1 patients, the probability for type 1A is modeled as a function of MedMNCV only.
Adolescent↗
A selenium supplement associated or not with vitamin E delays early renal lesions in experimental diabetes in rats.
Seventy rats were separated into five groups: one group of 12 was used as a control and received a purified diet, and four groups of streptozotocin-induced diabetic rats, totalling 58, were fed the same diet without or with selenium (Se) supplementation. Of the noncontrol rats, 14 were without supplementation (Group D), 14 were fed a Se-rich yeast diet (i.e., selenion) (Group DSel), 14 received selenomethionine (Group DSm), and 16 received selenomethionine + tocopherol acetate (Group DSmE). Supplementation with Se in all groups was 0.99 micromole/100g of diet and with tocopherol acetate was 0.145 micromole/100 g. All diabetic rats were mildly balanced by insulin. After 24 weeks of diet, plasma glucose tended to decrease in diabetic Se-supplemented groups DSmE > DSm > DSel versus Group D. In DSm and DSmE groups, plasma lipid peroxides also decreased compared with Group D, but this decrease reached significance only for DSmE (P < 0.01 for both TBARS and conjugated dienes). Plasma triglycerides also decreased in DSm and DSmE groups versus Group D (P < 0.01; P < 0.05, respectively). At the same time, Se increased significantly in kidneys of Groups DSel and DSm versus D and more weakly in Group DSmE, but in this case was associated with a large increase of vitamin E. These beneficial effects of selenium supplement and more so of selenium combined with vitamin E were associated with a protection of kidneys in diabetic rats which found expression in a significant correction of renal hyperfiltration (P < 0.05) and in a diminution of the number and severity of glomerular lesions (P < 0.0005).
Animals↗
Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.
The most frequent form of Charcot-Marie-Tooth disease (CMT1A; OMIM118.220) is the result of a duplication on chromosome 17 in pll.2-p12. This region contains PMP22, a gene expressed in peripheral myelin. The mutation results from an unequal crossing-over involving repeated sequences, CMT1A-REP, located on both sides of the duplicated region. The reciprocal product of this recombination is a deletion of the same region, which is associated with hereditary neuropathy with liability to pressure palsies (HNPP; OMIM162.500). Proximal and distal CMT1A-REP sequences can be distinguished by the presence of a variant EcoRI site. We quantified the number of these repeat sequences in 36 CMT1A and 40 HNPP patients. CMT1A-REP sequences are involved in almost all of the mutations. The majority of recombination breakpoints occur distally from the variant EcoRI site. However, a few have a breakpoint proximal to this site, which creates the risk of misinterpretation with respect to a duplicated/deleted status.
Charcot-Marie-Tooth Disease↗