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排序方式: 共有97条查询结果,搜索用时 15 毫秒
1.
A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay. 总被引:3,自引:1,他引:3
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M Upadhyaya S H Roberts J Maynard E Sorour P W Thompson M Vaughan A O Wilkie H E Hughes 《Journal of medical genetics》1996,33(2):148-152
We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties. 相似文献
2.
Practitioner Review: Pathways to care for ADHD – a systematic review of barriers and facilitators
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3.
Background
Cranioplasty aims to reconstruct skull defects from fractures, decompressive craniectomies, tumors, and congenital anomalies in a cosmetically acceptable manner. We present a technique in methyl methacrylate cranioplasty that gives excellent cosmetic results by maintaining patient’s calvarial curvature.Method
Cranioplasty material is placed into a plastic bag and packed inside the defect. Wire mesh cut larger than the defect is held in position to take the exact skull curvature. Once solid, the implant is fixed in position using titanium plates and mini-screws.Conclusion
This is a simple, inexpensive method of achieving the most cosmetically desired cranioplasty results. 相似文献4.
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Sorour A Brito-Babapulle V Smedley D Yuille M Catovsky D 《Cancer Genetics and Cytogenetics》2000,121(2):128-132
Chromosome 8 abnormalities are seen in 80% of patients with T-cell prolymphocytic leukemia (T-PLL). The abnormalities described are idic(8)(p11),t(8;8)(p11;q12),+8, and 8p+ with the involvement of 8p. To localize 8p11-p12 breakpoints in T-PLL, metaphases from seven cases were karyotyped. Those with idic(8)(p11) and add(8)(p11) were probed with a panel of contiguous YACs derived from 8p11-p12 using fluorescence in situ hybridization (FISH). Analysis of FISH results showed that 8p11-p12 breakpoints cluster into two regions. The first region is telomeric to YAC 899e2, which contains the fibroblast growth factor receptor-1 gene (FGFR1) and appears to cluster within a 1.5-MB YAC 807a2. The second region is more centromeric with breakpoints on either side of YAC 806e9, flanked by YAC 940f10 distally and YAC 910d7 proximally, the latter containing the MOZ gene. These findings showed that a segment of 8p was still present in the isodicentric, but the pattern of clustering does not seem to correspond to a breakpoint affecting a single gene. The clustering regions are likely to be hot spots for recombination and result in idic(8)(p11) and 8p+. These changes point to the pathogenesis of T-PLL involving deletion of a gene sequence on 8p and/or gain of a copy of 8q. 相似文献
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Alex Bekker MD PhD Khaled Sorour MD Sanford Miller MD 《Journal of clinical anesthesia》2002,14(8):1987-591
The β-adrenergic receptor blocking drugs are commonly used in the treatment of patients with idiopathic hypertropic subaortic stenosis (IHSS). These drugs, however, are contraindicated in patients with chronic obstructive pulmonary disease (COPD). We report the anesthetic management of a patient with IHSS complicated by severe COPD. We concluded that the β1 selective, ultra-short acting β-blocker, esmolol, can be used intraoperatively when both conditions are present. The pathophysiology and the commonly used anesthetic drugs and practices for treatment of patients with IHSS are reviewed. 相似文献