Analysis of 10 patients with duplications of 15q11q13 region and autism features / 中华医学遗传学杂志

OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features.METHODS Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for the patients and their parents.RESULTS Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and triplication of the 15q11q13 region by high-resolution CMA analysis. Two remaining patients had normal karyotypes but duplications of the 15q11q13 region. All duplications have encompassed the Prader Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number were not detected among the parents of the patients,suggesting a de novo origin for them. Analysis of SNP-array data of the family trios using Chromosome Analysis Suite Software found that the copy number gains have originated from the mothers.The diagnosis of 15q11q13 duplication syndrome was ascertained. For patients with SMC detected by karyotyping analysis,a FISH assay using probes specific for the 15q11q13 region showed that such SMC also derived from chromosome 15q11q13 region and contained two copy numbers, which was consistent with the result of CMA.CONCLUSION Ten patients with autism and 15q11q13 duplications were identified with combined karyotyping, CMA and FISH analysis. A phenotype - genotype correlation was established.

Development of ultrasonic power meter / 中国医疗器械杂志

This article describes the design and development of an ultrasonic power meter which is consist of an electronic balance, a practice target, an acoustic enclosures and a blocking. The electronic balance mounted on the blocking is linked with the practice target by connecting rod. By adjusting the blocking makes the practice target suspended above ultrasound probe, and then the ultrasonic power can be measured. After initial tests, the ultrasonic power meter performanced with good stability and high precision.

EXPERIENCE IN RESCUING PATIENTS WITH OPEN CAROTID INJURY / 现代医院

Objective To discuss the rescuing process and the selection of operating method of 9 cases of patients with carot-id artery injury .Methods 9 patients received positive anti -shock treatment after admission .Anterior sternocleidomastoid incision was made in the upper and middle section , and cervicothoracic incision was made in the lower section .Then ligature of external carot-id artery and repair and danastomosis of common carotid artery and internal carotid artery were examined .Results Among the 9 ca-ses, 2 were dead, 1 had hemiplegic paralysis and aphasia , 1 had hoarseness and drink cough and 5 others were cured.Conclusion Early diagnosis , effective haemostasis , reconstruction of carotid artery and necessary brain protection are the key to reducing the mor -tality and decreasing the morbidity of neurological deficit .