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1.
目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系,对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人.临床表现具高度多样性,累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良,在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查,未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传,染色体检查未发现核型异常。 相似文献
2.
额叶内侧面损伤的临床特点及救治 总被引:9,自引:0,他引:9
目的 总结17例额叶内侧面损伤的临床特点及救治经验。方法 对我科1999年7月至2003年4月收治的额叶内侧面损伤患者进行回顾性分析。结果 手术治疗1例,恢复良好,保守治疗16例,其中恢复良好12例,中残2例,死亡2例,全组死亡率11.77%。结论 额叶内侧面损伤一般意识障碍较轻,但易直接发生枕骨大孔疝,严密观察病情及动态CT检查,颅内压监测,不拘泥传统手术指征,及时抓住手术时机,可有效降低致残率及死亡率。 相似文献
3.
【目的】探讨种植前基因诊断的临床应用。【方法】对 1例夫妇均为东南亚缺失型α 地中海贫血携带者 ,经超排取卵、卵母细胞单精子显微注射受精及胚胎细胞活检 ,吸取的单个卵裂球采用针对α SEA基因的 gap PCR引物和荧光探针用荧光定量PCR技术进行诊断 ,将诊断为不致病的 3个胚胎进行宫腔内移植。【结果】胚胎移植后 7周B超诊断单胎妊娠 ,18周羊膜腔穿刺产前诊断证实为不致病胎儿。【结论】应用成熟的显微操作技术进行胚胎细胞活检 ,活检的单个卵裂球用荧光定量PCR技术进行诊断 ,获得国内首例α 地中海贫血胚胎种植前基因诊断后妊娠成功。 相似文献
4.
Nuri Karabay MD Tulgar Toros MD Can Hurel MD 《The Journal of foot and ankle surgery》2007,46(6):442-446
The heels of 23 patients who were diagnosed with unilateral/bilateral plantar fasciitis were evaluated via ultrasonography and compared with their asymptomatic feet and a control group of 23 people. Plantar fascial thickness, echogenity, and heel pad thickness were evaluated, and the results were statistically analyzed. For symptomatic feet, increased thickness of the fascia and reduced echogenity were constant ultrasonographic findings (mean, 4.79 mm for symptomatic feet; 2.17 mm for control group, P < .05). No significant difference was found between heel pads of the diseased and healthy feet (mean, 12.96 mm for symptomatic feet; 13.10 mm for control group; P > .05). Ultrasonography seems to be a valuable, noninvasive diagnostic tool for the evaluation of plantar fasciitis. 相似文献
5.
Kahraman S Akarsu C Cengiz G Dirican K Sözen E Can B Güven C Vanderzwalmen P 《Human reproduction (Oxford, England)》1999,14(3):726-730
In this study the fertility and outcome of intracytoplasmic sperm injection (ICSI) using megalohead spermatozoa from the ejaculates and testicles was evaluated. Seventeen males with megalohead and pinhead sperm forms in their ejaculate were studied in 22 cycles. A high number of sperm heads without tails and abundant round spermatid forms were commonly observed. Round-headed spermatozoa were seldom accompanied by these severely abnormal spermatozoa. The majority of megalohead spermatozoa were observed to have multiple tails, were predominant in the sample, and were used for ICSI. Ejaculated megalohead spermatozoa were used for ICSI in 15 cycles, while testicular spermatozoa were used in seven cycles where there were no vital spermatozoa or spermatozoa of low vitality in the ejaculate. The same abnormal morphology was observed in the testicles as in the ejaculated spermatozoa in the same males. Mean (+/- SD) low motility 4.7 +/- 5.6% and sperm count (3.8 +/- 4.19 x 10(6)) were common findings in these severely teratozoospermic patients. A low fertilization rate (43.2%) was achieved by using megalohead sperm forms (group I, n = 17) in comparison with the control group (60.2%) which had zero normal sperm morphology according to strict criteria (group II, n = 30) (P <0.01). Furthermore, a low pregnancy rate (9.1%) was obtained in the megalohead sperm group in comparison with the control group (40%) (P <0.05). Low fertilization and pregnancy rates may be due to a high incidence of chromosomal abnormalities from severely defective spermatozoa in the ejaculate. Couples should be counselled and warned about possible low fertilization and pregnancy rates with ICSI when only pinhead and megalohead forms with a high number of sperm heads without tails are present in the ejaculate. 相似文献
6.
Can Ding Rolf Beetz Gabriele Rittner Oliver Bartsch 《American journal of medical genetics. Part A》2020,182(5):1032-1040
There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four‐generation family, seven individuals had central diabetes insipidus (CDI) and the female index patient seen from age 16 to 26 years had (mild) nephrogenic diabetes insipidus. In her father with CDI, a known pathogenic heterozygous AVP variant c.232_234del p.(Glu78del) was identified, confirming the diagnosis of CDI in him and the other affected family members. In the proband, molecular analysis disclosed a novel heterozygous AVPR2 gene variant, c.962A > T p.(Asn321Ile) and an extremely skewed X‐inactivation, confirming X‐linked nephrogenic diabetes insipidus (XL‐NDI). Whole exome sequencing showed no further causative mutation. This is the first report on the co‐existence of CDI and NDI in one family. Our review of symptomatic female AVPR2 heterozygotes includes 23 families with at least one affected female (including this study). There were 21 different causative mutations. Mutation types in females did not differ from those in males. Both severe XL‐NDI and mild forms were reported in females. All six females with severe XL‐NDI had complete loss‐of‐function (null) mutations. The remaining 17 female probands had milder XL‐NDI caused by 14 missense variants and three null variants of the AVPR2 gene. X‐inactivation was studied in nine of these females; all showed extreme or slight skewing. The review underlines that XL‐NDI in female AVPR2 heterozygotes is always accompanied by skewed X‐inactivation, emphasizing a need for X‐inactivation studies in these females. 相似文献
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9.
目的 真核表达人呼吸道合胞病毒(human respiratory syncytial virus,SV)融合蛋白(fusion protein,),并完成蛋白纯化及纯度测定.方法 根据编码F蛋白的基因序列设计引物,CR方法扩增出3'端带His标签的F基因序列,克隆入pGEM-T-easy载体,经核酸序列分析后,进一步克隆到pcDNA3.1( )真核表达载体,限制性内切酶鉴定,用脂质体Lipofectamine2000转染COS-7细胞,2 h后再用Westem blot检测目的蛋白的表达.Ni柱亲和层析纯化COS-7细胞表达的F蛋白,高效毛细管电泳分析纯化后蛋白纯度.结果 核酸序列分析证实获得带His标签的RSV F基因序列,没有发生无义突变.转染COS-7细胞后,利用Western blot方法检测到F蛋白的特异性条带,纯度达99%以上.结论 初步建立了真核表达RSV F蛋白的纯化方法,为进一步优化RSV F蛋白制备条件及单克隆抗体及诊断试剂等研究奠定了基础. 相似文献
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