[When should cholecystectomy be performed in cholecystitis?].
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Biomedical subjects
Publications and source records attributed to G Jaeger.
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HLA-A and B antigens were studied in 543 AKA pygmies. The present analysis showed two characteristics of this pygmoid group: the absence of HLA-A1, A11, B8 and Bw38 and the high frequency of Aw30, B17, B27, B37, B40 and Bw39. The strongest gametic associations were found with the haplotypes Aw30, B37 and A3, B5.
Protein polymorphism is studied in more than 900 serum samples during different investigations conducted in a Bi Aka Pygmy group. The Gc, Tf and alpha 1-antitrypsin subtype polymorphisms were determined after isoelectric focusing while the haptoglobins alpha and alpha 2-peptides were studied on PAGE. A high frequency of the Hp2 gene is noted while Hp1F and Hp1S gene frequencies are similar. According to the Gc1S and Gc2 gene frequencies this group falls within the cluster of the melanoderm populations such as the Sara, Bantu and Peulhs. The two subtypes of TfC1 and TfC2 are present in this sample. TfC3 is absent. The TfD1 variant frequency is one of the highest observed in African groups. The alpha 1-antitrypsin polymorphism corresponds to the presence of the three PiM subtypes. No other variants are observed, neither PiS nor PiZ. For the first time a highly significant association is described between the TfD1 and Gc1A1 (GcAb) genes. Family pedigrees do not permit the ascertainment of the linkage between the two loci.
This article presents the results obtained by electrophoretic analysis of the group specific component polymorphism in more than 1,250 serum samples from populations living in the Sahara, the Middle East, and equatorial Africa. In addition to the alleles Gc1F and Gc1s, five variants, including one previously unknown, were found. The distribution of the alleles herein described permits speculation on exchanges and relations among the groups considered. The lowest frequencies of the gene Gc2 correspond to regions where sunlight is stronger. There is also a north-south gradient in the Gc1F gene frequency. This seems to parallel the gradient seen in skin pigmentation.
Blood samples collected in a single Pygmy tribe, the Aka, living in Bokoka district (Central African Empire) were investigated with respect to the phenotype and gene frequencies of the following 12 enzyme systems: acid phosphatase, adenosine deaminase, adenylate kinase, carbonic anhydrase, esterase D, glucose-6-phosphate dehydrogenase, malate dehydrogenase, phosphoglucomutase 1, phosphoglucomutase 2, phosphogluconate dehydrogenase, superoxide dismutase and serum cholinesterase variants (locus E1 and E2). The data obtained in the study of genetic polymorphisms of this isolated and inbred population show a specific pattern with the following characteristics: the very low frequency of PGDB and pa alleles; the existence of two rare PGM variants at the PGM2 locus, typical PGM26Pyg (4.2%) and PGM29 (0.2%); the high frequency of the pr allele (10.8%) and CAII2 (8.22%) and ESD2 genes (18.4%). Furthermore, at the G6PD locus four distinct alleles have been found: the negroid GdA- (4%) and GdA+ (16%), the common GdB+ (79.2%)--, and the rare Gd+Ibadan Austin (0.7%). Cholinesterase typings disclosed the presence of the uncommon E1f and E1s genes distributed within a single breeding unit. The results are compared with other data previously reported on South African Khoisan and some Negroid populations; the particular genetic background of Pygmies is discussed.
In two African communities, inhabitants of a Western Sahara oasis and Bi-Aka Pygmies (Central Africa), a genetic study of the distribution of G6PD phenotypes has been undertaken. Obtained data show the existence in both groups of slow electrophoretic variants with no enzyme deficiency or moderately reduced activity. Biochemical characterization of G6PD types was performed. In the Saharian family in which inheritance pattern of mutant G6PD was investigated, two alleles were found, the Negroid marker GdA- and Gd+Madrona, segregating among the different members. In the Pygmy family the Gd+Ibadan-Austin gene was detected. The incidence of these mutations in the groups studied, a comparison with similar G6PD variants observed in other African populations and the geographic distribution of these slow molecules are discussed in this paper.
Studies on five generations of the Maghrebian family representing two double heterozygous subjects Hb C/Hb O Arab. Review of literature concerning Hb O Arab; identification and screening techniques; historic and genetic implications.
Since 1962, the hemoglobin of all the foundation scholars of the French Cooperation addressed to the C.E.A.B.H. for a medical examination at their arrival in France was systematically studied. The distribution and the incidence of hemoglobin S and hemoglobin C were recorded in fourthy ethnic groups from Africa South of Sahara. Few significant correlations between the frequency of anomalies detected by the medico-biological check-up and the presence of an abnormal hemoglobin were found; AC seems to be less asymptomatic than AS. Some rare hemoglobins were detected.
For the study of the group-specific component (Gc) system, serum samples were examined by polyacrylamide gel electrophoresis and by a newly developed immunofixation isoelectrofocusing procedure. Thereby, a greater extent of polymorphic variation was revealed than was known previously. The allele Gc1 could be subdivided into the alleles Gc1F and Gc1S. The distribution of Gc1 subtypes was very different in three populations (Pygmies, Amerindians, and Pyreneans) examined. New variants of the Gc1 and Gc2 genes were also described in the Amerindians and in the Pygmy population, respectively.
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This study was initiated to examine the influence of valproic acid (VPA) on serum carnitine, as well as the possible etiological role of carnitine in VPA-induced fatal hepatotoxicity. Free, total, and short-chain acylcarnitine were measured in the serum of 21 pediatric patients receiving VPA therapy, 21 healthy matched controls, and 21 patients receiving various antiepileptic drugs other than VPA. The free carnitine level was lowest in the VPA group (p less than 0.05), and the short-chain acylcarnitine/free carnitine ratio was highest in the VPA group (p less than 0.01). Patients receiving VPA polytherapy had lower total carnitine values than patients receiving VPA monotherapy (p less than 0.05). No correlation was found between serum ammonia and VPA drug levels. A 3 1/2-year-old girl developed hepatic failure under VPA therapy. Her serum carnitine values were normal. Despite the oral intake of L-carnitine this patient died. In this case, apparently VPA-induced hepatotoxicity was not associated with carnitine deficiency. The reduction of carnitine in the serum of VPA-treated patients is most probably due to alterations of fatty acid metabolism. However, neither primary carnitine deficiency nor VPA-induced secondary carnitine deficiency can be the only reason for the VPA-induced fatal hepatotoxicity.