Objective To investigate the clinical and genetic features of a Chinese family with yon Hippel- Lindau （VHL） disease revealed by bilateral pheochromocytoma. Methods The proband and other members in a Chinese family...Objective To investigate the clinical and genetic features of a Chinese family with yon Hippel- Lindau （VHL） disease revealed by bilateral pheochromocytoma. Methods The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members （including 3 patients） was amplified by polymerase chain reaction （PCR） and the PCR products were directly sequenced. Results The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A （Arg161Gln） in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members. Conclusion VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.展开更多
Family members solve not only their interests, but make provision for interests of other members of the family, too. The space for the control at a higher level is thus formed. Without notifying, individual members in...Family members solve not only their interests, but make provision for interests of other members of the family, too. The space for the control at a higher level is thus formed. Without notifying, individual members in the process of provision making proceed depending on general rules of the organisation of elements into higher structures, as they exist in all stable objects. This provision making has different forms, starting with the love and ending with an assisted coexistence. The understanding of the role of individual controlling structures allows to improve the functioning of the family. Similarly, as a regular discussion of its functioning in the family and perhaps, their controlled casting by some of partners, too. The submitted work describes roles and the control in the elementary family--in the childless coexistence of partners.展开更多
基金Supported by the "tenth five-years " National Science and Technology Tackle Key Project (2004BA720A29)
文摘Objective To investigate the clinical and genetic features of a Chinese family with yon Hippel- Lindau （VHL） disease revealed by bilateral pheochromocytoma. Methods The proband and other members in a Chinese family with familial pheochromocytoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of 8 family members （including 3 patients） was amplified by polymerase chain reaction （PCR） and the PCR products were directly sequenced. Results The first presentation in the proband, his mother, and his sister was bilateral pheochromocytoma, and the missense mutation of 695G-A （Arg161Gln） in exon 3 of VHL gene was detected in the three patients. In the follow-up study, the proband and his mother were found to have other VHL tumors, induding retinal and cerebellar hemangioblastomas and pancreatic tumor. Neither clinical presentation of VHL disease nor gene mutation was found in other family members. Conclusion VHL disease should be suspected in some patients with familial pheochromocytoma, and VHL gene screening helps to achieve early diagnosis of the disease.
文摘Family members solve not only their interests, but make provision for interests of other members of the family, too. The space for the control at a higher level is thus formed. Without notifying, individual members in the process of provision making proceed depending on general rules of the organisation of elements into higher structures, as they exist in all stable objects. This provision making has different forms, starting with the love and ending with an assisted coexistence. The understanding of the role of individual controlling structures allows to improve the functioning of the family. Similarly, as a regular discussion of its functioning in the family and perhaps, their controlled casting by some of partners, too. The submitted work describes roles and the control in the elementary family--in the childless coexistence of partners.
