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Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. 总被引:11,自引:8,他引:3 下载免费PDF全文
I T Thomas J L Frias E S Cantu C Z Lafer D B Flannery J G Graham Jr 《American journal of human genetics》1989,45(2):193-205
We have evaluated eight patients with pigmentary anomalies reminiscent of incontinentia pigmenti or hypomelanosis of Ito. All demonstrated abnormal lymphocyte karyotypes with chromosomal mosaicism in lymphocytes and/or skin fibroblasts. In seven the skin was darkly pigmented, and in all of these seven cases the abnormal pigmentation followed Blaschko lines. The literature contains at least 36 similar examples of an association between pigmentary anomalies and chromosomal mosaicism, as well as five examples of an association with chimerism. The pigmentary anomalies are pleomorphic, and the chromosomal anomalies involve autosomes and sex chromosomes. The pigmentation patterns are reminiscent of the archetypal paradigm seen in allophenic mice and demonstrate the clonal origin of melanoblasts from neural crest precursors. Patients with anomalous skin pigmentation, particularly when it follows a pattern of Blaschko lines, should be appropriately evaluated for a possible association with chromosomal or genetic mosaicism or chimerism. 相似文献
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To evaluate whether the median eminence (ME) is a site of action of CRF (corticotropin releasing factor) on GH secretion and
to determine the possible role of estradiol and progesterone in modifying theses secretion, we injected CRF (0.25, 0.75, 1,
and 1.5 nmol of peptide dissolved in 1 μl of water) directly into the ME in three experimental groups of rats: Long-term ovariectomized
(OVX); OVX primed by estradiol (OVX±E) and OVX primed by estradiol plus progesterone (OVX±EP). Blood was collected to determine
GH (30, 60, 90, and 120 min postinjection) Serum T3, T4, and glucose levels were measured in OVX±E rats 30 min postinjection. CRF at all doses studied significantly decreased serum
GH levels in the three experimental groups. Serum T3, T4, and glucose levels were unchanged after CRF administration. The results suggest that: CRF inhibits “per se” GH secretion,
at least in part, by a central action in the ME. The inhibitory effect of CRF on GH is independent of the estrogen/progesterone
status of the animal. CRF at ME levels may participate in a variety of stress-related responses, including growth inhibition,
through GH suppression. 相似文献
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A 3 1/2-year-old male with partial trisomy of the long arm of chromosome 16 resulting from a maternal balanced translocation 11p;16q is described. Clinical findings are compared with similar case reports from the literature. 相似文献
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By converting biomass residue to biochar, we could generate power cleanly and sequester carbon resulting in overall greenhouse gas emissions (GHG) savings when compared to typical fossil fuel usage and waste disposal. We estimated the carbon dioxide (CO2) abatements and emissions associated to the concurrent production of bioenergy and biochar through biomass gasification in an organic walnut farm and processing facility in California, USA. We accounted for (i) avoided-CO2 emissions from displaced grid electricity by bioenergy; (ii) CO2 emissions from farm machinery used for soil amendment of biochar; (iii) CO2 sequestered in the soil through stable biochar-C; and (iv) direct CO2 and nitrous oxide (N2O) emissions from soil. The objective of these assessments was to pinpoint where the largest C offsets can be expected in the bioenergy-biochar chain. We found that energy production from gasification resulted in 91.8% of total C offsets, followed by stable biochar-C (8.2% of total C sinks), offsetting a total of 107.7 kg CO2-C eq Mg-1 feedstock. At the field scale, we monitored gas fluxes from soils for 29 months (180 individual observations) following field management and precipitation events in addition to weekly measurements within three growing seasons and two tree dormancy periods. We compared four treatments: control, biochar, compost, and biochar combined with compost. Biochar alone or in combination with compost did not alter total N2O and CO2 emissions from soils, indicating that under the conditions of this study, biochar-prompted C offsets may not be expected from the mitigation of direct soil GHG emissions. However, this study revealed a case where a large environmental benefit was given by the waste-to-bioenergy treatment, addressing farm level challenges such as waste management, renewable energy generation, and C sequestration. 相似文献
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