Biomedical subjects
Publications and source records attributed to J Vigneron.
We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.
Explore the source record for details and available documents.
Two cases of de novo duplication of the distal part of the long arm of chromosome 14 are reported. In one case, the partial trisomy of 14q is due to translocation of a segment (14q24 to 14qter) at the end of the satellite stalk of chromosome 14. The clinical picture is very severe. In the second case, a tandem duplication in 14 (q23----q32) is present with only minor malformations and mild mental retardation.
A case-control study was conducted in a maternity hospital, in order to look for the relationships between the occurrence of birthdefects and the socio-occupational status of the parents. Cases were 189 new-born children with one or several congenital malformations diagnosed at birth or within the first 8 days of the life. Birthdefects were listed according to the British Paediatric Association classification of diseases. Controls were 5,896 new-born children without any congenital malformation detected within the first 8 days of life. Cases and controls were all children born in the same maternity hospital, between 1980 and 1983. The socio-occupational status (INSEE classification) of the parents of cases and controls was ascertained within the first trimester of the pregnancy, before a possible congenital malformation was known. In order to look for the relationships between the socio-occupational status of the parents and the occurrence of birthdefects, we compared the proportions, in each of the socio-occupational classes, of the fathers and of the mothers of cases and controls. These comparisons (for all birthdefects together and for the most frequent ones) were tested using the chi-square test, when the expected number was greater than 5, and the Fischer's test, when it was equal to, or lower than 5. The incidence rate of birthdefects in this sample was 3,1%. Their distribution according to the types of malformations did not differ from that observed in 1982 among the new-borns in Paris. There was no significant difference between the parents of cases and controls, for: age, degree of instruction, ethnic origin, marital status.(ABSTRACT TRUNCATED AT 250 WORDS)
It has been published about 500 cases of caudal regression (sacral agenesis) of which 12 are undoubtly familial. In most of the non familial cases an aetiology is not demonstrable except the cases related to maternal diabetes and/or insulin treatment. A genetic control of the caudal regression is implicit in the familial transmission. Three sporadic new cases are reported and, at the occasion of the genetic counselling we analyse the 8 well reported genealogies. Among 133 subjects, 72 show some evidences of caudal regression. This is compatible with a pattern of autosomic dominant transmission. The analogy with the caudal regression anomaly of the mouse, in which the role of genes located closely to the histocompatibility system is demonstrated, evokes such a relation in the human with the major histocompatibility system. If true, this may be used as a genetic marker, especially for early antenatal diagnosis.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A three generation family with Stickler syndrome is reported. Affected patients exhibited myopia with frequent retinal detachment or glaucoma. Most of them had characteristic facial dysmorphism, the Pierre-Robin sequence being observed in four individuals. Neonatal radiological signs of the Weissenbacher-Zweymüller syndrome were also noticed but early arthopathy was not reported in adults. Restriction fragment length polymorphism studies with the type II collagen gene (COL2A1) showed a recombination event between the disease locus and COL2A1, thus excluding collagen type II as the candidate gene. Although the calculation of the likelihood of genetic heterogeneity versus homogeneity based on 10 families was not statistically significant, we suggest that a second locus is probably involved in this highly variable syndrome.
The stability of ganciclovir sodium solutions stored in polypropylene syringes and PVC bags was tested in 0.9% sodium chloride at three concentrations 70, 200 and 350 mg/50 ml for polypropylene syringes, and two concentrations (70 and 350 mg/250 ml) for PVC bags and at three temperatures (-20 degrees C, + 4 degrees C, room temperature). The solutions, which had been initially frozen, were thawed by exposure to microwave radiations. The stability of each sample was determined by high-performance liquid chromatography. The results of this study indicate that admixtures of ganciclovir sodium at the concentration rates tested can be frozen for at least one year and are stable for at least 80 days at + 4 degrees C and 7 days at room temperature.
Usually parenteral solutions can be kept longer if they are frozen. This freezing procedure assumes one knows the stability of frozen drugs. Freezing has a few drawbacks; preparations must be labelled twice (before and after freezing), only standardized doses can be prepared, thawing procedures must be established, cost of freezer and microwave-oven and time needed for thawing and labelling. There are four main advantages; production plannings are improved because time needed for preparation is reduced, quality assurance of the preparation, availability of preparation at any time, reduce of drug wastage. Freezable drugs are listed and sorted by pharmacological class. The presentation includes drug concentration, vehicle, container, storage temperature, assay procedure and stability. Our nine months experience is presented. Three drugs are frozen; methotrexate, metoclopramide and ganciclovir. Considerable preparation time is saved and economy is about FF 150,000.
A collaborative study was conducted to test a new rapid procedure for determination of water-insoluble cell wall (WICW) content in feeds. In the method, starch is solubilized near boiling temperature with Termamyl, a heat-stable alpha-amylase, and proteins are solubilized at 40 degrees C with sodium dodecylsulfate and Pronase. Then, the organic matter of the residue is determined by incineration. Three hours were required to treat 12 different samples, including solubilization treatments, filtrations, and rinses. Eleven unknown products including 9 common feedstuffs of various origin and 2 mixed diets for poultry were analyzed by 7 analysts in France. Coefficients of variation ranged from 2.3 to 6.1%. The results were compared to those for water-insoluble dietary fiber (WIDF), total dietary fiber, and neutral detergent fiber. Agreement was best with the water-insoluble dietary fiber procedure. For most samples, the ratios of WIDF/WICW ranged from 0.981 to 0.842. The differences between WICW and WIDF values correspond to cell wall protein which is accounted for in WICW, but not in WIDF.
Explore the source record for details and available documents.