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Silvia Izquierdo álvarez Eva Barrio Ollero Francisco Miguel Llinares Sanjuan Fabiola Lorente Martínez María Teresa Calvo Martín 《Biochemia medica : ?asopis Hrvatskoga dru?tva medicinskih biokemi?ara / HDMB》2014,24(1):159-166
Introduction:
Additional nucleotide substitutions in the 3′-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient.Case and methods:
The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after immobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be determined using the PTH-FV-MTHFR StripAssay (Vienna Lab).Results:
Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip.Conclusion:
The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the patient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events. 相似文献2.
Fabiola MORENO-OLIVAS ;Vincent U.GANT Jr ;Kyle L.JOHNSON ;Jose R.PERALTA-VIDEA ;Jorge L.GARDEA-TORRESDEY 《浙江大学学报(A卷英文版)》2014,15(8):618-623
研究目的：二氧化钛（TiO2）纳米颗粒已经广泛应用于化妆品、防晒霜、涂料和牙膏等。这些纳米颗粒性质非常稳定,能在废水和生物固体中转移和分散。现有研究表明,TiO2纳米颗粒对动物正常生理活动具有毒性等负面作用。但是,它们对植物是否具有毒性特别是是否会产生植物基因毒性至今尚不清楚。因此,本文使用随机扩增多态性DNA技术研究TiO2纳米颗粒是否对西葫芦具有基因毒性,为TiO2纳米颗粒排放进入环境后的潜在植物毒性风险评价提供依据。 创新要点：首次发现了TiO2纳米颗粒对西葫芦具有基因毒性。 重要结论：采用随机扩增多态性DNA技术,发现TiO2纳米颗粒污染处理的西葫芦样品与未处理样品的基因组DNA图谱相比,不仅在谱带强度有明显差异,而且存在谱带消失和新谱带产生现象,表明TiO2纳米颗粒对西葫芦具有基因毒性。 相似文献
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Ann C. Miller Nancy Rumaldo Guadalupe Soplapuco Alicia Condeso Betsy Kammerer Shannon Lundy Fabiola Faiffer Andy Montañez Karen Ramos Naysha Rojas Carmen Contreras Maribel Muñoz Hilda Valdivia Daojing Vilca Nandy Córdova Patricia Hilario Martha Vibbert Leonid Lecca Sonya Shin 《Child development》2021,92(6):e1275-e1289
This study is a randomized controlled trial of a 12-week community-based group parenting intervention (“CASITA”) in Lima, Peru. CASITA improved neurodevelopment in a pilot study of 60 Peruvian children and subsequently scaled to 3,000 households throughout the district. The objective of this study was to assess intervention effectiveness when implemented at scale. A total of 347 children ages 6–20 months (52.7% male, 100% identified as “mestizo”) at risk for developmental difficulties were randomized to immediate or delayed CASITA. At 3 months after enrollment, the immediate arm showed significantly higher overall development, based on the Extended Ages and Stages Questionnaire and Home Observation for Measurement of the Environment scores (Cohen’s ds = .36 and .31, respectively). Programs demonstrably effective at scale could help address children’s development risks worldwide. 相似文献
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