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131.
Ambiguous abdominal situs, asplenia/polysplenia and severe cardiac malformations characterize heterotaxy in humans. These anomalies result from the inability of the developing embryo to establish normal left-right asymmetry. We have studied an interesting family in which the heterotaxy phenotype segregates as an X-linked recessive trait. In order to map the heterotaxy locus (HTX), we have analysed 39 family members using highly-polymorphic microsatellite markers from the X chromosome. One of these markers, DXS994, shows no recombination with the disease locus in 20 informative meioses. Linkage analysis results in a maximum lod score of 6.37. Current genetic and physical mapping data assign the order of loci in Xq24-q27.1 as cen-DXS1001-(DXS994, HTX)-DXS984-tel. These results establish the first mapping assignment of situs abnormalities in humans.  相似文献   
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Vaccination with peptides that induce a specific immune response is a potential prophylactic or therapeutic strategy against viral infections and tumors. Because of the extensive polymorphism of the HLA loci, synthetic peptide vaccines must consist of a cocktail of peptides that bind specifically to different HLA molecules. Such cocktails should be optimized for the target population as each population has its specific HLA gene frequencies. To achieve maximum population coverage with a minimum number of peptides, information is needed on the ranking of the most frequent HLA phenotypes. We introduce the minimal phenotype panel, which is the smallest combination of HLA antigens selected so that the proportion of individuals in a population that express at least one of the antigens in the panel exceeds a desired minimum value. We developed a method for assembling minimal phenotype panels based on known HLA class I gene frequencies. We give an example based on a set of 2446 well-defined HLA-typed, random, healthy, unrelated, Dutch Caucasoid individuals. In addition, we discuss the possibility of assembling minimal phenotype panels based on two-locus haplotypes, which enables the assembly of phenotype panels from the antigens of both loci.  相似文献   
134.
Bone marrow examination revealed a lipid-laden histiocytosis in seven patients undergoing long-term total parenteral nutrition necessitated by extensive short-bowel surgical resection. Clinical abnormalities occurred during this treatment which required bone marrow examination. These included hepatosplenomegaly and peripheral blood cytopenia; the median time to the detection of these abnormalities was 64 months. The most striking change within the bone marrow was the presence of many pigment-laden histiocytes which had the typical morphology of sea-blue histiocytes seen in the so-called idiopathic sea-blue histiocyte syndrome. The occurrence of sea-blue histiocytosis in the bone marrow in association with long-term parenteral nutrition for short-bowel syndrome has not, to our knowledge, been reported previously and should now be considered in the differential diagnosis of bone marrow sea-blue histiocytosis.  相似文献   
135.
One month following the Great Hanshin Earthquake of January 17, 1995, we conducted a survey of 173 hospitals in Aichi Prefecture to pinpoint problems related to their actual disaster-readiness and the medical backup systems in place to deal with such disasters. This study revealed that staff at 50% of the surveyed hospitals could reach the hospital within an hour, but that communication is almost entirely dependent on phone lines, suggesting that cordless/portable/mobile phones, radio systems, Internet, communications satellites and the like should be studied in the days to come for possible use as effective communication alternatives in times of disaster. Whereas 92% of the surveyed hospitals had manuals dealing with fire outbreaks, other areas were less well represented. For example, only 36.9% of surveyed hospitals had manuals for earthquakes, 31.7% had manuals for power outages and 14.2% had manuals to deal with flooding and water disasters. New manuals must be developed incorporating the key points garnered from experience (especially Hanshin) and be ready for use immediately. It is the time for each hospital to seriously rethink the measures it should take to deal with disasters.  相似文献   
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137.
An analytic expression of fmax is derived based on a practical HBT circuit model where collector junction capacitance is split up into internal and external parts. It shows that for advanced HBTs, fmax is well characterized by the product of the base resistance and internal collector capacitance. In other words, the external collector capacitance has only a small impact on the determination of fmax. Good agreement between experimental results and numerical circuit simulation confirms the validity of the HBT circuit model. The influence of the external collector capacitance on maximum available gain is also described  相似文献   
138.
A low threshold current density of ~100 A/cm2 has been obtained at 1.55 μm using a graded-index separate-confinement-heterostructure strained InGaAsP single-quantum-well laser. The design of the laser structure is based on results calculated from the viewpoint of effective carrier injection into the well  相似文献   
139.
The biotransformation of oxazepam by Bifidobacterium bifidum was studied. The major metabolite was purified by chromatographic methods and found to be desmethyldiazepam using NMR, IR and other physicochemical data.  相似文献   
140.
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