BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the...BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the causative genes of this disorder.CASE SUMMARY A 30-year-old woman presented with irregular black pigmentation spots to our department.Upon examination,the pigmentations were found to be especially dense on the extremities and the face.She had no family history of inbreeding,nor any previous chemical exposure.Genetic testing confirmed that the disease occu-rred because the patient has a SASH1 gene mutation.Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders,the patient give birth to a health baby.CONCLUSION Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of trans-mitting the pathogenic variant to their offspring.展开更多
In order to improve the accuracy of cable fault position location at a low cost and make the testing results intuitive, a cable fault detector based on wave form reconstruction is designed. In this detector, the cable...In order to improve the accuracy of cable fault position location at a low cost and make the testing results intuitive, a cable fault detector based on wave form reconstruction is designed. In this detector, the cable fault position is located based on the time-domain pulse reflection （TDR） principle. A pulse waveform is injected in the tested cable, and a high-speed comparator with changeable reference voltages is used to binarize the test pulse waveform to a binary sequence on a certain voltage. Through scanning the reference voltage in a full voltage range, multi-sequences are acquired to reconstruct the pulse waveform transmission in the cable, and then the pulse attenuation feature, electrical open circuit fault, electrical short circuit fault, and the fault position of the cable are diagnosed. Experimental results show that the designed cable fault detector can determine the fault type and its position of the cable being tested, and the testing results are intuitive.展开更多
文摘BACKGROUND Dyschromatosis universalis hereditaria(DUH)is a rare type of autosomal dominant inheritance disease.It has varying gene mutation sites among different ethnicities.SASH1 and ABCB6 have been identified as the causative genes of this disorder.CASE SUMMARY A 30-year-old woman presented with irregular black pigmentation spots to our department.Upon examination,the pigmentations were found to be especially dense on the extremities and the face.She had no family history of inbreeding,nor any previous chemical exposure.Genetic testing confirmed that the disease occu-rred because the patient has a SASH1 gene mutation.Following the use of assisted reproductive technology and preimplantation genetic testing for monogenic disorders,the patient give birth to a health baby.CONCLUSION Using assisted reproductive technology/preimplantation genetic testing for monogenic disorders is an option for DUH patients to reduce the risk of trans-mitting the pathogenic variant to their offspring.
基金The National Natural Science Foundation of China(No.61240032)the Natural Science Foundation of Jiangsu Province(No.BK2012560)+1 种基金the College Scientific and Technological Achievements Transformation Promotion Project of Jiangsu Province(No.JH-05)the Science and Technology Support Program of Jiangsu Province(No.BE2012740)
文摘In order to improve the accuracy of cable fault position location at a low cost and make the testing results intuitive, a cable fault detector based on wave form reconstruction is designed. In this detector, the cable fault position is located based on the time-domain pulse reflection （TDR） principle. A pulse waveform is injected in the tested cable, and a high-speed comparator with changeable reference voltages is used to binarize the test pulse waveform to a binary sequence on a certain voltage. Through scanning the reference voltage in a full voltage range, multi-sequences are acquired to reconstruct the pulse waveform transmission in the cable, and then the pulse attenuation feature, electrical open circuit fault, electrical short circuit fault, and the fault position of the cable are diagnosed. Experimental results show that the designed cable fault detector can determine the fault type and its position of the cable being tested, and the testing results are intuitive.
