散发内淋巴囊瘤VHL基因位点微卫星标志杂合性丢失的研究

目的 探讨散发内淋巴囊瘤发病与VHL基因异常之间的关系。方法 采用组织微切割技术和多聚酶链式反应等方法对3例散发内淋巴囊瘤肿瘤细胞VHL基因位点染色体微卫星标志的杂合性丢失进行分析。结果 3例散发内淋巴囊瘤中有2例发生VHL基因位点微卫星标志的杂合性丢失,进一步的研究证实,该两例肿瘤细胞中分别存在着VHL基因第二外显子的异常。结论 VHL基因的异常导致其功能改变不但是VHL的致病原因,而且是散发性内淋巴囊瘤发病的重要的基因遗传学基础。     

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone.     

Surgical correction of incomplete form of open atrioventricular canal in adults

Clinical and anatomo-hemodynamic features of adult patients with incomplete form of the open atrioventricular canal are presented, policy of surgical treatment and optimal degree of surgical intervention on mitral valve are determined. The study of variant anatomy of the defect, revealed two variants of left atrioventricular valve formation (with "functional" and with "anatomical" septal commissure). In the first anatomic variant the mitral insufficiency was hemodynamically important and required surgical correction. In the second variant, the mitral valve had good closure function, that permitted to avoid the routine suturing of anterior velum's splitting.     

Transposition of the great arteries--difficulties in prenatal diagnosis

Transposition of the great arteries is a rare congenital heart malformation associated with significant perinatal morbidity and mortality. Prenatal diagnosis is possible after detailed examination of the fetal heart and knowledge of the ultrasound appearance of the two types of transposition--complete and corrected form. We present a case report of antenatally diagnosed complete transposition of the great arteries in 22 weeks of gestation and discuss the difficulties in prenatal diagnosis.