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81.
A derivative chromosome 8 was observed in a newborn boy who presented with low birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was further characterized at age 18 months by a high resolution G-banding analysis, spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple DNA probes. The karyotype was described as 46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an inverted duplication of region 8p21.3-->p23.3 and a duplication of region 8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. Different from previously reported patients with an inverted duplication (8p), no deletion was detected in the distal region of 8p in this case. This young child had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation. These features are compared with those commonly seen in cases with an inverted duplication of 8p and cases with a partial trisomy of 8q.  相似文献   
82.
Constitutional mutations in the RB1 gene predispose to retinoblastoma development. Hence genetic screening of retinoblastoma patients and relatives is important for genetic counseling purposes. In addition, RB1 gene mutation studies may help decipher the molecular mechanisms leading to tumors with different degrees of penetrance or expressivity. In the course of genetically screening of 107 hereditary and non-hereditary retinoblastoma patients (11 familiar bilateral, 4 familiar unilateral, 49 sporadic bilateral and 43 sporadic unilateral) and kindred from Spain, Colombia and Cuba, using direct PCR sequencing, we observed 45 distinct mutations and four RB1 deletions in 53 patients (9 familiar bilateral, 2 familiar unilateral, 31 sporadic bilateral and 11 sporadic unilateral). Most of these mutations (26/45, 57%) have not been reported before. In 32 patients, the predisposing mutations correspond to nonsense (mainly CpG transitions) and small insertions or deletions whose expected outcome is a truncated Rb protein that lacks the functional pockets and tail. Five single aminoacid replacements and seventeen mutations affecting splicing sites were also observed in retinoblastoma patients. Two of these sixteen mutations are of unclear pathogenic nature.  相似文献   
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Journal of Occupational Rehabilitation - Purpose This study aimed to understand age differences in wage-replacement duration by focusing on variations in the relationship across different periods...  相似文献   
84.
The ERAS guidelines are intended to identify, disseminate and promote the implementation of the best, scientific evidence-based actions to decrease variability in clinical practice. The implementation of these practices in the global clinical process will promote better outcomes and the shortening of hospital and critical care unit stays, thereby resulting in a reduction in costs and in greater efficiency. After completing a systematic review at each of the points of the perioperative process in cardiac surgery, recommendations have been developed based on the best scientific evidence currently available with the consensus of the scientific societies involved.  相似文献   
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The relationship between the migration process and speciation distribution of Cr is important for the risk assessment in the underground environment. In this work, soil columns were collected from the chromate production site, with a 40-year operation, in the groundwater depression cone area of North China plain. The relationship between chromium pollution features and the geochemical properties of soil was established, and the migration risk of Cr(VI) was assessed based on the Nemerow composite index and Hydrus-1D model. The maximum total Cr concentration in the chromium slag dumping site reached 907 mg/kg, and that in the chromate production workshop was more than 200 mg/kg across the depth. The migration of Cr might be accelerated in the soil with abundant Mn (236–1461 mg/kg) but scarce organic matters (<?0.45%). The Hydrus simulation indicated that Cr(VI) would reach a cumulative flux of 300–729 mg/cm2 after 50 years.

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左上腹腹膜腔的矢状断面解剖学研究   总被引:1,自引:1,他引:1  
刘树伟  王永贵 《解剖学报》1996,27(2):118-122
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90.
Using exercise treadmill testing (ETT), the authors undertook an evaluation of a patient who remained normotensive following termination of two-drug antihypertensive therapy. The hypertensive treadmill results suggest incomplete resolution of the hypertensive state and a potential role of the ETT in adding precision to the diagnosis of hypertension and monitoring control.  相似文献   
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