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81.
Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA 总被引:2,自引:0,他引:2
Two families, one of Anglo-Saxon-Dutch descent, and the other, West Indian black, have an atypical beta thalassemia characterized by an unusually high level of Hb A2 in the heterozygous state. Restriction endonuclease mapping showed a deletion of about 1.35 kilobase (kb) in the 5' region of the beta globin gene. Direct sequencing of a specific region of genomic DNA amplified by a new modification of the polymerase chain reaction defined the deletion to be 1,393 base pairs (bp) and to be the same in both families. The deletion extends from 485 bp 5' to the mRNA CAP site to the middle of the second intervening sequence. This deletion, together with three others previously described that remove the 5' end of the beta gene but leave the delta gene intact, are all associated with unusually high levels of Hb A2 in the heterozygous state. 相似文献
82.
Four patients with Philadelphia (Ph') positive chronic myeloid leukemia (CML) were studied before, after, and on relapse following allogeneic bone marrow transplantation (BMT). Southern analysis of DNA from cells collected before and at relapse after BMT was performed in order to investigate the origin of the leukemia at relapse. Using minisatellite probes we showed that the relapse occurred in cells of host origin in all four patients and this was confirmed with a Y chromosome specific probe in two male patients who had a female donor. Furthermore, using two probes for the breakpoint cluster region (bcr) on chromosome 22, we showed that leukemic cells at relapse bore identical rearrangements to those in the disease at time of presentation of each patient. We conclude that relapse in all four patients is due to re-emergence of the original leukemic clone. 相似文献
83.
84.
Placebo controls play a critical role in the evaluation of any pharmacotherapy. This review surveys the placebo arm in 12 randomized controlled trials (RCTs) investigating burning mouth syndrome (BMS) and documents a positive placebo response in 6 of them. On average, treatment with placebos produced a response that was 72% as large as the response to active drugs. The lack of homogeneity in the use of placebos adds to the difficulty in comparing results and aggregating data. Future RCTs investigating BMS would benefit from larger sample sizes, adequate follow‐up periods, and use of a standard placebo. 相似文献
85.
86.
PG Kareru JM Keriko GM Kenji GT Thiong'o AN Gachanja HN Mukiira 《African journal of traditional, complementary, and alternative medicines》2010,7(3):214-218
In this study, Tithonia diversifolia Helms. (A Gray), Aloe secundiflora (Miller) and Azadirachta indica (A. Juss) plant extracts were used to make herbal soaps while Thevetia peruviana (Schum) seed oil was used to make a herbal lotion for skincare. The soaps were tested for the growth inhibition of Escherichia coli, and Candida albicans. The lotion was evaluated against Staphylococcus aureus and E.coli. Although Tithonia diversifolia soap exhibited the highest inhibitory effect on the test bacterial strains, it had the least inhibition against C. albicans. Results from this study indicated that the ‘Tithonia diversifolia’ soap would have superior skin protection against the tested bacteria but would offer the least skin protection against C. albicans. The herbal lotion inhibited S. aureus and E. coli in a concentration dependent manner, however, the inhibitory effect was more pronounced on S. aureus. 相似文献
87.
目的:目前有关骨髓间充质干细胞向内皮细胞诱导分化的研究较少。本实验分离和培养人骨髓间充质干细胞,用带有VEGF165的质粒转染人骨髓间充质干细胞,探讨血管内皮生长因子对其体外诱导分化的作用。
方法:实验于2005—04/2006—04在吉林大学人兽共患病教育部重点实验室完成。取成人的已排除血液系统肿瘤疾病的新鲜骨髓(自愿提供),采用Percoll梯度分离培养骨髓间充质干细胞,于倒置显微镜下观察细胞形态变化和生长情况。原代细胞培养至增殖接近融合状态时,单克隆培养法分离传代培养,扩增骨髓间充质干细胞。采用流式细胞术检测细胞免疫学表型。在原核细胞大肠杆菌DH5α中复制扩增和提取,纯化、克隆pcDNA3.0-VEGF165质粒。用脂质体转染法转染骨髓间充质干细胞:应用流式细胞术检测诱导后骨髓间充质干细胞免疫学表型变化j并采用免疫荧光染色鉴定转染情况,并设质粒空载和未转染的骨髓间充质干细胞为对照。
结果:人骨髓间充质干细胞原代培养1周后,造血细胞消失,贴壁细胞体积增大,呈现梭形外观,有粗大的细胞突起伸出。2周后细胞融合成单层,梭形突起变长,排列有明显的方向性,细胞排列成旋涡状、网状、辐射状。流式细胞术显示,人骨髓间充质干细胞免疫学表型CD44、CD29阳性,CD34、CD31、CD45阴性。VEGF165诱导骨髓间充质千细胞后CD44表达明显降低,CD31明显升高。免疫荧光染色显示,用FITC标记后的VEGF抗体使细胞显现绿色荧光,用cy3标记的CD31抗体使细胞显现了红色荧光。
结论:转染后的骨髓间充质干细胞细胞表型发生明显转变,CD31表达率明显增高,呈现典型的内皮细胞的表型特征,这说明骨髓间充质干细胞具有向内皮细胞分化的潜能。 相似文献
88.
The aim of this study was to assess the clinical safety of performing microlaryngeal surgery (MLS) under general anaesthesia in selected patients in the ambulatory setting. Twenty-two adult patients were scheduled to have tissue specimens of the larynx taken by biopsy (54%), for vocal cord polypectomy (41%) or for vocal cord cyst excision (5%). Twenty-one ASA I and II patients (95%) were discharged home the same day of the procedure. Two of them presented with laryngospasm after extubation of the trachea. One ASA III patient (5%) had to be admitted overnight because of severe laryngospasm and bronchospasm, but was discharged the day after the operation. None of the patients had significant complications after leaving the recovery room (mean stay 85 min). There were no re-admissions to the hospital. Our data suggests that microlaryngeal surgery in selected patients can be safely performed on a day case basis. 相似文献
89.
Maxime V. Measson Matthew P. Ithurburn Alexandre JM. Rambaud 《International Journal of Sports Physical Therapy》2022,17(3):493
BackgroundThe test battery classically used for return-to-sport (RTS) decision-making after anterior cruciate ligament (ACL) reconstruction (ACLR) may not be sufficient, as it does not include a qualitative analysis of movement. Therefore, the Landing Error Scoring System (LESS) scale was adapted to a primary functional test in the typical RTS test battery: the single leg hop for distance (SHD).Hypothesis/ PurposeThe aim of this study was to determine the intra-rater reliability of the LESS scale adapted to the SHD (SHD-LESS scale) in healthy young athletes.Study DesignReliability analysisMethodsNineteen healthy individuals (14 men, 5 women; mean age: 22.4 years) participated in the study. Participants performed the SHD tasks on both limbs (dominant and non-dominant) using a standardized protocol in two sessions that were one week apart (single reviewer; 2-dimensional video). Intra-class correlation coefficients (ICC2,1) were used to measure the reproducibility of the scale in the dominant (dom) and non-dominant (nondom) limbs. Additionally, limb data (dom and nondom) were pooled and evaluated collectively with intra-class correlation coefficients. The Kappa coefficient was used to assess the reproducibility of each individual item of SHD-LESS scale.ResultsThe intra-rater reliability was good (ICCdom = 0.77; ICCnondom = 0.87; ICCpooled = 0.87) for the overall SHD-LESS scale scores. Agreement of SHD-LESS individual items ranged from 62% to 100%. Dorsiflexion at initial contact (97% agreement; kappa value=0.79) and knee valgus after landing (88% agreement; kappa value=0.65) had excellent agreement and kappa values.ConclusionThe newly-adapted SHD-LESS scale showed good intra-rater reliability overall. Further studies should evaluate the impact of using the SHD-LESS scale within the RTS test battery on outcomes in patients after ACLR.Level of Evidence3 相似文献
90.
Tawfiq Froukh Omar Nafie Sana' A. S. Al Hait Lucia Laugwitz Julia Sommerfeld Marc Sturm Aya Baraghiti Tala Issa Anis Al-Nazer Philipp A. Koch Johannes Hanselmann Beate Kootz Peter Bauer Wael Al-Ameri Rami Abou Jamra Ayman J. Alfrook Moath Hamadallah Linda Sofan Angelika Riess Tobias B. Haack Olaf Riess Rebecca Buchert 《Clinical genetics》2020,97(4):621-627
We recruited 103 families from Jordan with neurodevelopmental disorders (NDD) and patterns of inheritance mostly suggestive of autosomal recessive inheritance. In each family, we investigated at least one affected individual using exome sequencing and an in-house diagnostic variant interpretation pipeline including a search for copy number variation. This approach led us to identify the likely molecular defect in established disease genes in 37 families. We could identify 25 pathogenic nonsense and 11 missense variants as well as 3 pathogenic copy number variants and 1 repeat expansion. Notably, 11 of the disease-causal variants occurred de novo. In addition, we prioritized a homozygous frameshift variant in PUS3 in two sisters with intellectual disability. To our knowledge, PUS3 has been postulated only recently as a candidate disease gene for intellectual disability in a single family with three affected siblings. Our findings provide additional evidence to establish loss of PUS3 function as a cause of intellectual disability. 相似文献