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Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.  相似文献   
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A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.  相似文献   
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Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.  相似文献   
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Although malignant transformation of fetal cervical teratoma is extremely rare, perinatal morbidity is high and usually related to the size of the tumour, which may compromise fetal swallowing and subsequently lead to upper airway obstruction. We present a case in which mid-trimester serial sonography demonstrated markedly rapid early growth of a lesion of this type between 17 and 19 weeks' gestation indicating the aggressive nature of this tumour, assisting parental decision to terminate the pregnancy. Histopathology confirmed grade 3 immaturity of the lesion.  相似文献   
108.
No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.  相似文献   
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Nitrogen (N) availability is a very important determinant of crop yield. It is also one of the most expensive inputs in crop production. Thus, the efficient management of N by farmers with limited resource is a very important part of successful soil and crop management system. A field study was conducted on a Norfolk sandy loam soil at the George Washington Carver Agricultural Experiment Station, Tuskegee, AL, to evaluate the influence of fertilizer source and timing on the yield of four sweet potato [Ipomoea batatas (L.)] cultivars. Two N sources (urea, CO(NH2)2 and ammonium nitrate, NH4NO3), four sweet potato cultivars (‘Georgia Jet’, GA-Jet; ‘TU-82-155’, TU-155; ‘TU-1892’; and ‘Rojo Blanco’, Rojo-Bl) and three times (zero, single, and split applications) were used in a factorial designed experiment. Plants were harvested after 80 and 120 days and total and marketable yields determined. Nitrogen recovery efficiency, yield efficiency and physiological efficiency were also determined. Total and marketable yields of early maturing cultivars were significantly higher than of late maturing cultivars (P<0.05). The single application of N resulted in significantly higher yield in storage roots than split application (P<0.05). Physiological efficiency values were highly correlated with total marketable yields. Recovery rates increased with time. Late maturing cultivars tended to have higher N recovery and physiological efficiency than early maturing cultivars. These results suggest that cultivar maturity group should play an important part in N fertilization recommendations for sweet potato.  相似文献   
110.
Cooperative prey retrieval in the monomorphic ant Formica schaufussi is carried out by workers that perform functionally distinct roles which persist only for the duration of a single retrieval event. A forager (scout) that locates prey too large to retrieve individually organizes cooperative prey transport by recruiting nestmates (recruits) to assist in retrieval. The scout and recruit roles appear to be determined by whether a worker activates recruitment or is recruited from the nest. Scouts organize recruitment and play a key role in maintaining the cohesion of the retrieval group. If a scout that has initiated group transport is experimentally removed, the recruited workers composing the retrieval group typically abandon the prey and cooperative foraging is terminated. In this context, recruits are unable to function as scouts and reorganize group transport. Individuals marked as recruits in one prey retrieval, however, can switch and act as scouts in subsequent retrievals. Because the roles of individuals persist within but not between retrieval events, the specialization involved in cooperative prey retrieval cannot easily be explained as a response associated with age-related or genetic predispositions. This transient division-of-labor, in which individual roles may persist only for the duration of a single group action, represents a novel type of short-term individual specialization.  相似文献   
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