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RD Wegner I Henrichs H Joenje T Schroeder-Kurth 《Canadian Metallurgical Quarterly》1996,50(6):479-482
The clinical and cytogenetic data of the first patient proven to belong to the fifth Fanconi anemia complementation group are described. The Turkish boy presented with psychomotoric retardation, growth retardation, retarded bone age, brachycephaly, hypotelorism, epicanthus, syndactyly, brachydactyly, renal dystopia, and cryptorchism. In addition, an asymmetrical skeletal anomaly was seen with a double distal phalanx of the left thumb and hypoplasia of the right thumb. Typical hematological features of the disorder developed, at the age of 2.5 years, about 1 year after diagnosis. Cytogenetic studies confirmed the clinical diagnosis and revealed a spontaneous chromosomal instability and hypersensitivity to the cross-linking agents diepoxybutane and Trenimon. The findings in the patient, who is considered to be the standard for the fifth Fanconi anemia complementation group, are compared with data reported for other patients affected with Fanconi anemia. 相似文献
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BACKGROUND: Arteriovenous malformations (AVMs) are an abnormal communication between arterial and venous structures. Pelvic AVMs have been infrequently described in the literature and represent an uncommon cause of a palpable pelvic mass. CASE: A case of pelvic AVM with ureteral obstruction occurred. The location and radiologic appearance of the AVM suggested a complex adnexal mass. During exploration and resection of the mass, significant bleeding was encountered. The diagnosis of AVM was made only retrospectively, with histologic examination of the specimen. CONCLUSION: AVMs are an uncommon and unique cause of pelvic pathology. Preoperative diagnosis will alert the surgeon as to the technically difficult resection that may be encountered and to the massive bleeding that can be associated with their removal. 相似文献
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RD Mootz 《Canadian Metallurgical Quarterly》1996,19(4):257-264
BACKGROUND: The presence of a genetic factor in the determination of leprosy has long been debated. This study tests whether the HLA-linked control of susceptibility to leprosy and/or for the types of leprosy could be confirmed. MATERIALS AND METHODS: In 15 multicase families, the method of DeVries et al., 1976, was used to detect nonrandom segregation of parental HLA haplotypes in their affected and healthy siblings. Linkage analyses, for two and three alleles were performed by the computer program LIPED: RESULTS: For the affected siblings, the segregations of the parental HLA haplotype were significantly nonrandom from the healthy parents and random from the affected parents, indicating that affected siblings were sharing their HLA haplotypes (segregated from the healthy parents) more than expected. The segregations to the healthy siblings from both the healthy and affected parents were random. Healthy siblings inherited the haplotypes shared among the leprosy siblings randomly as expected. There were excess DR2/DR2 homozygote individuals among tuberculoid siblings. The highest lod score was achieved when we considered our suggested three-alleles model for the susceptibility to the different types of leprosy. CONCLUSIONS: A closely HLA-linked gene on chromosome number 6 with multiple alleles (3 or more) in recombination fraction between 0.05 and 0.1 with 70 to 100% penetrance may be responsible for the susceptibility to the different types of leprosy, whereas the susceptibility to leprosy per se maybe the responsibility of non-HLA linked gene/s. DR2/DR2 homozygote individuals may be relatively at high risk of developing leprosy or tuberculoid leprosy. 相似文献
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William N. Gill Rajiv M. Ginde John Verhoeven 《Chemical Engineering Communications》1993,124(1):49-56
The linear theory of Pearson (1958) and Nield (1964) is modified here to study liquid tin and include the finite thermal resistances of the bounding layers of boron nitride, copper and air (∼10-2 torr) in the experiments of Ginde et al. (1989). The magnitude of the ΔTc across the layer of liquid tin required for the onset of convection depends on the ratios of the thermal conductivities and thicknesses of the supporting layers of boron nitride and copper to those of the tin.
According to our theory surface tension contributes more than buoyancy to the instability observed experimentally. The critical ΔTc observed required for the onset of convection in the layer of tin, is up to 25% lower than that predicted, which shows the layer is less stable than the theory indicates. Thus the surface of the tin was uncontaminated, or a significantly larger observed critical ΔTc would be expected.
The boundary condition on the thermal fluctuations at the base of the supporting layer of copper does not appear to be important in these experiments. However, the thermal resistance of the boron nitride would have to be assumed to be unrealistically large to obtain agreement within experimental error with the theory. 相似文献
According to our theory surface tension contributes more than buoyancy to the instability observed experimentally. The critical ΔTc observed required for the onset of convection in the layer of tin, is up to 25% lower than that predicted, which shows the layer is less stable than the theory indicates. Thus the surface of the tin was uncontaminated, or a significantly larger observed critical ΔTc would be expected.
The boundary condition on the thermal fluctuations at the base of the supporting layer of copper does not appear to be important in these experiments. However, the thermal resistance of the boron nitride would have to be assumed to be unrealistically large to obtain agreement within experimental error with the theory. 相似文献
29.
The hygienic adequacy of a commercial process for the collection and cooling of beef offals was assessed by a temperature function integration technique. The diverse operations for collection of offals were inspected. The rates of product movement through those operations, and the temperatures of products at the time of their being packed, were determined. From that information, four of the nine product types were selected for examination of their temperature histories during the assembly and cooling of the cartoned products. The products selected encompassed product at near-body and near-air-ambient temperatures at the time of packaging, product in the largest and smallest cartons used in the process, and product with relatively short and long residence times in an unchilled carton stack assembly area. Twenty-one temperature histories were collected for each of the products, and the possible proliferation of an indicator organism, Escherichia coli, calculated for each temperature history. The results were assessed against a temperature function integration criterion derived from studies of beef carcass and cartoned meat cooling processes. Products packaged at near-ambient temperature readily met with the criterion, but products packed at near-body temperatures did not comply. The latter non-compliance was extreme for product packaged in large cartons. However, the principal cause of non-compliance was identified as highly variable cooling conditions in the carton freezing facility. A brief survey of air speeds and temperatures within that facility indicated means by which product cooling could be better controlled. 相似文献
30.
Data from the Cancer Registry of Slovenia were used in a cohort study to determine whether the incidence of second primary cancers in patients with first primary breast cancer differs from the incidence expected in the general population. Special interest was given to long-term survivors. The expected numbers of second primary cancers were calculated by multiplying the number of appropriate person-years at risk by the corresponding age- and calendar-period-specific cancer incidence rates for women in Slovenia. The risk of a second primary cancer was expressed as the standardized incidence ratio (SIR). Of the 8,917 patients newly diagnosed in the period 1961-85 and followed-up to the end of 1994, 547 (6.2 percent) developed second primary cancers, whereas 410 (4.7 percent) were expected (SIR = 1.3, 95 percent confidence interval [CI] = 1.2-1.4). The risk was higher among younger patients. In long-term survivors, the risk was increased significantly for second primary cancer of the breast (SIR = 1.4, CI = 1.1-1.7), lung cancer (SIR = 1.6, CI = 1.1-2.3), melanoma (SIR = 2.7, CI = 1.5-4.4) and non-melanoma skin cancers(SIR = 2.0, CI = 1.6-2.4), corpus uteri cancer(SIR = 1.6, CI = 1.2-2.1), ovarian cancer(SIR = 2.3, CI = 1.7-3.0), and thyroid cancer (SIR = 2.5, CI = 1.2-4.6). Our results confirm the findings of several cohort studies carried out in Europe, the United States, and Japan, indicating that breast cancer patients should be monitored carefully for the occurrence of second primary cancers. 相似文献