Biomedical subjects
Publications and source records attributed to M Pape.
We describe our early experiences using the new AO plate for open reduction and internal fixation of displaced intra-articular fractures of the calcaneum. An overview of our operative technique based on 22 cases is given. The relative merits of the new plate are discussed and we conclude that the plate is a useful device for dealing with this complex injury.
In this work, we have optimized random amplified polymorphic DNA (RAPD) for the use of human DNA in altering the concentration of the reaction components and the steps of the thermal profile in the polymerase chain reaction. By using two primers in every reaction and 2.5 U Taq DNA polymerase, we found that DNA concentrations between 50 and 500 ng gave reproducible banding patterns. The tested DNA was extracted in seven different ways giving the same amplification results in six of them. We have also observed that reactions consisting of 35 cycles gave sufficient product yields. A slow heating/ramping from the annealing to the extension temperature increased the number of amplified bands and enhanced reproducibility. We conclude that RAPD is a robust and, under the mentioned conditions, reproducible method that could prove very useful for scientists and physicians.
Hysteroscopy has become an integral part of the overall gynaecological surgical concept. On the one hand the experience of our study group as well as a literature survey have demonstrated that results of hysteroscopic metroplasty, resection of submucous myoma and synechiolysis are at least comparable to those of conventional procedures, the advantages of minimal invasive surgery being evident. However, increasing complications, even with a lethal outcome, due to deficient technical equipment or insufficient training of the surgeon are reported. Yet, a survey of complications in literature and in our own series of hysteroscopies (n = 200), shows a median complication rate below 1%. Knowledge of possible complications, symptoms and management alternatives is, however, a first requirement for application of these minimal access procedures. The second major precondition being a well structured training program for surgeon and assisting team. With the recently developed in-vitro-simulation trainer, the HysteroTrainer, training of the entire spectrum of hysteroscopic procedures, including laser and high frequency electrosurgical applications, is now feasible. The simulator may also be employed for security checking of the complex hysteroscopic equipment.
The distribution of the hemoglobin Constant Spring (Hb CS) gene in eight populations in Southeast Asia (including Assam) was determined using oligonucleotide hybridization. Hb CS was absent in two Assamese populations with a high prevalence of Hb E. The Hb CS gene frequency was 0.033 in northern Thailand and near 0.01 in central Thailand and Cambodia. High frequencies, between 0.05 and 0.06, were observed in northeastern Thailand. The present data and a similar study in Laotians suggest that the Lao-speaking populations of the Mekong River basin in northeastern Thailand and Laos have the highest frequencies of the Hb CS gene in Southeast Asia.
Forty beta-thalassemia genes from unrelated German heterozygotes with no known foreign ancestry were examined using the oligonucleotide technique and DNA restriction analysis, with the aim of determining the contribution of Mediterranean beta-thalassemia mutations to the prevalence of this trait in the German population. Of the 40 beta-thalassemia genes, 26 were identified as Mediterranean types (20 beta 39 nonsense, 3 IVS2 nt 110, 2 IVS2 nt1, 1 IVS1 ntl G----A). The geographic distribution of the birthplaces of the probands' grandparents revealed no difference in the proportion of Mediterranean and unidentified beta-thalassemia genes in the west and the north of Germany.
The frequency of alpha-thalassemias in a general population sample from northeastern Thailand and in an Austroasiatic group with high frequencies of hemoglobin E and beta-thalassemia, the So, was estimated using DNA techniques. Among 64 healthy adult subjects from the Khonkaen and Ubol areas, the following haplotype frequencies were determined: alpha alpha, 0.742; -alpha 3.7 (subtype I), 0.148; -alpha 4.2, 0.016; -alpha del, 0.008; alpha Constant Spring alpha, 0.055; --SEA, 0.023, and alpha alpha alpha (triplicated alpha-globin gene), 0.008. In the So group, the combined frequency of alpha-thalassemia chromosomes was 0.525.
Hb Suan-Dok [alpha 2(109)(G16)Leu-greater than Arg beta 2] has an alpha-thalassemia-like effect due to low production and instability of the altered alpha-globin chain. Since the Hb Suan-Dok mutation (CTG-greater than CGG) creates a new Sma I restriction site, it was possible to diagnose the mutation by restriction analysis. The location in the alpha 2-globin gene was confirmed. The distribution of alpha-globin gene anomalies and a beta-thalassemia gene in the original family, deduced from examinations at the protein level, was verified by DNA analysis.
DNA analysis of a Northern Thai family with a child affected with beta-thalassemia major revealed a novel deletion of 3.4 kb removing the entire beta-globin gene in the proposita and her mother. Detailed mapping of the deletion located the 5' breakpoint in the region between nucleotides -810 and -128 of the beta-globin locus, and the 3' breakpoint between the Ava II and Xmn I sites located downstream of the beta-globin gene. The father transmitted a codon 17 nonsense mutation, a beta-thalassemia variant common in Thailand, to the child.
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A total of 123 beta-thalassemia genes from northern (n = 113) and northeastern (n = 10) Thailand were examined. Using five oligonucleotide probes, the mutation in 108 genes (88%) was identified: 50 nonsense 17, 49 frameshift 41-42, 4-28(A----G), 2 IV1 nt5(G----C), 2IVS2 nt654, and 1 deletion removing the entire beta-globin gene. The nonsense 17 mutation (n = 39) was linked to a single haplotype, whereas the frameshift 41-42 mutation occurred with several haplotypes. The results of the present study indicate that prenatal diagnosis of clinically important beta-thalassemia syndromes using a limited set of oligonucleotides is feasible in approximately 80% of affected families in northern Thailand and most of the families with beta-thalassemia-Hb E disease in northeastern Thailand.
Female BDF1 mice were exposed up to 8 weeks to airborne concentrations of 100, 300, and 900 ppm of benzene, 6 h/day, 5 days/week. The erythropoietic cell compartment in the bone marrow and the peripheral blood was studied using the erythroid burst-forming unit (BFU-E) and erythroid colony-forming unit (CFU-E) assays, the incorporation of 59Fe, and standard methods. In the peripheral blood only a slight anemia was observed. In the bone marrow, however, a considerable decrease of CFU-E numbers was seen, the CFU-E being more depressed than the BFU-E numbers. In bone marrow smears a variable content of erythroblasts was found. The 59Fe kinetics showed an enhanced turnover within the erythron, suggesting the decrease in transit time as a compensating mechanism for the low CFU-E numbers. After 4 weeks of exposure to all benzene concentrations, greater than 17 days in benzene-free atmosphere are needed for a complete recovery of BFU-E and CFU-E compartment sizes.
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The frequency of deletional types of alpha-thalassemias in the Khmer population of Kampuchea (Cambodia) was estimated using DNA techniques. Among 58 healthy adult Kampucheans from rural areas, 17 had alpha-globin gene anomalies. There were 14 heterozygotes and two homozygotes for alpha(+)-thalassemia; the remaining test subject carried a deletion of both alpha-globin genes (alpha(0) -thalassemia of the Southeast Asian type) on one chromosome 16, and triple alpha-globin genes on the other. All of the 18 alpha(+)-thalassemia deletions were of the -alpha 3.7 type (17 subtype I, 1 subtype II). The restriction pattern obtained with the enzyme RsaI and comparison of the intensity of hybridization with alpha-globin and beta-globin gene probes yielded no evidence of total deletion of the alpha-gene complex. The prevalence of deletional alpha(+)-thalassemia in Kampuchea is higher, and that of alpha(0)-thalassemia is lower than in neighbouring Thailand.