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51.
Rapid prenatal diagnosis of beta thalassemia using DNA amplification and nonradioactive probes 总被引:3,自引:0,他引:3
We used in vitro DNA amplification by the polymerase chain reaction and nonradioactive probes for prenatal diagnosis of beta thalassemia in Chinese from the Guangdong province. Exact molecular diagnoses were made in all 20 fetuses studied over a 6-month period. We conclude that this method of prenatal diagnosis for beta thalassemia is a viable approach in many parts of the world where this disease is common. 相似文献
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Two patients with hairy cell leukemia with massive splenomegaly and severe pancytopenia were treated with recombinant alpha-A interferon (IFN-alpha-2a). There was no significant response to a trial of IFN- alpha-2a (11 and 20 weeks) with respect to blood counts or spleen size. Subsequent treatment with 2'-deoxycoformycin (dCF) for 8 consecutive weeks (4 mg/m2/wk) resulted in normalization of spleen size and a normalization of peripheral blood counts and bone marrow in one patient. The second patient demonstrated a reduction in spleen size and improved blood counts following 9 weeks of dCF therapy but eventually became refractory. This demonstrates that dCF is non-cross-resistant with interferon and confirms the efficacy of dCF in nonsplenectomized patients. 相似文献
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77 hospitalized patients with chronic unspecific abdominal complaints, in whom any other organic disease had been previously excluded, were investigated for lactose malabsorption; they were subdivided into two groups: 46 patients complaining primarily of colicky abdominal pain and/or intermittent diarrhoea (group 1) and 31 patients presenting with dyspepsia as the predominant symptom (group 2). To establish the exact prevalence of isolated lactase deficiency in the healthy adult population served by our hospital, 40 Italian adult healthy subjects were also studied. The prevalence of lactose malabsorption was significantly higher (p less than 0.005) in patients of the 1st group than in patients of the 2nd group, and in the healthy adult population seen at our hospital (74% vs 35.5% and 37.5%, respectively). Furthermore a high prevalence of lactose intolerance, determined by means of a three-week diet trial (lactose free-diet versus normal diet), was documented among lactose malabsorbers of the 1st group. We concluded therefore that lactose intolerance is a factor in some Italian adult patients who suffer from long-standing aspecific abdominal discomfort, and it should be always considered in these patients, especially when colicky abdominal pain and diarrhoea are present, before the diagnosis of irritable bowel syndrome is made. 相似文献
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目的探讨经关节入路微创钢板固定(MIPPO)技术治疗股骨远端C型骨折的临床疗效。方法2002年4月~2005年2月,应用MIPPO技术治疗股骨远端C型骨折14例,按AO/ASIF分类:C1型3例,C2型6例,C3型5例。先行关节内骨折切开复位、松质骨螺钉固定,再行髁上部分骨折间接复位、经关节内切口插入髁支撑钢板或LISS钢板桥接固定骨折。结果12例患者获得10~32个月(平均18.4个月)随访,骨折均获愈合,愈合时间10周~12个月,平均4.6个月。按Kolmert和Wulff的评价标准:优4例,良5例,可2例,差1例,优良率为75%。结论应用MIPPO技术治疗股骨远端C型骨折实现了微创操作,具有创伤小、软组织干扰少、骨折愈合快等优点,疗效满意。 相似文献
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Maria A. Panaro Carlo I. Mitolo Angela Acquafredda Antonia Cianciulli Sabrina Lisi Chiara Porro 《Immunopharmacology and immunotoxicology》2013,35(3):475-488
Six representative CXCR4 mRNAs of fish, amphibia, birds, and mammals were selected to study the pattern of conservation/mutation of the individual nt of the coding sequences. According to an arbitrary conservation index ranging from 1 to 6, the indexes of conservation were: 5.04 for the first nt of coding triplets; 5.34 for the second nt of triplets, and 3.75 for the third nt of triplets. The average conservation index of the individual triplets was 4.71. The conservation index of the seven hydrophobic transmembrane domains was 5.60, while the cumulative conservation index of the intracytoplasmic and extracellular domains was 4.63. Separate autocorrelation and power spectral analyses of the series of conservation indexes for the first nt, the second nt and the triplets demonstrated a modest “basic” positive correlation for about the first 20 lags and accordingly some power concentration at the lower frequencies (long periods). Within the triplets, the correlation was studied between the conservation indexes of nt 1 and 2, 1 and 3, and 2 and 3. Correlations of 1 with 3 and 2 with 3 were positive, but in the range of the basic local correlation, whereas the correlation between the first and second nt was significantly higher. This correlation, together with the higher conservation of the second nt as compared to the first (two patterns also found in the formyl peptide receptors), are likely to have been established by selection processes directed towards a functional conservation or a “functional repair.” 相似文献