Expressions of transforming growth factor-beta(1) and Smad4 in rat models of chronic nonbacterial prostatitis and their clinical significance / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the expressions of transforming growth factor-beta(1) and Smad4 in the prostatic tissue of rat models of chronic nonbacterial prostatitis (CNP), and to explore the mechanisms of CNP and its fibrosis.</p><p><b>METHODS</b>Sixty 6-month-old SD rats were randomly allocated into three groups of equal number: normal control, 30 d CNP model and 45 d CNP model, the models made by castration + high-dose intramuscular injection of estradiol benzoate. The expressions of TGF-beta1 and Smad4 in the prostatic tissue were detected by immunohistochemistry and Western blot.</p><p><b>RESULTS</b>Compared with the normal controls, the 30 d and 45 d CNP rat models showed a significantly increased expression of TGF-beta1 and decreased expression of Smad4 (P < 0.05), even more significantly in the 45 d than in the 30 d group. And the expression of TGF-beta1 was negatively correlated with that of Smad4 in the CNP rat models.</p><p><b>CONCLUSION</b>TGF-beta1 and Smad4 may be involved in the pathogenesis of CNP, and prostatic fibrosis may make the condition difficult to cure.</p>

Genetic detection and analysis of the VHL gene in patients with sporadic pheochromocytoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To carry out a genetic detection and analysis of Von Hippel-Lindau (VHL) gene in Chinese patients with sporadic pheochromocytoma.</p><p><b>METHODS</b>DNA samples were extracted from peripheral blood cells and fresh pheochromocytoma specimens from 41 patients with sporadic pheochromocytoma were assayed by polymerase chain reaction and direct sequencing. The DNA samples of 50 healthy volunteers were extracted from peripheral blood as a control. The PCR products of exon 1, exon 2 and exon 3 were used for molecular analysis of the VHL gene. The genetic detection of family members of VHL gene mutations was also performed.</p><p><b>RESULTS</b>One of mutations was located at nucleotide 572 (G-->C) in exon 2, presenting a codon 120 from arginine (R) to threonine (T). Tow small insertions were locatated at nucleotide 623T (TTTGTtG) in exon 2, leading to a frameshift mutation. There were also three carriers of G572C and three carriers of 623T (TTTGTtG) in family members of the three cases.</p><p><b>CONCLUSION</b>There are some Chinese patients with sporadic pheochromocytoma with tumorigenic VHL gene mutations. It is recommended to use the genetic detection and analysis of VHL gene as a routine examination for patients with sporadic pheoehromoeytoma under the age of 50 years with questionable family history. The genetic detection and analysis of VHL gene may be useful as a marker for the diagnosis of hereditary pheochromocytoma.</p>

Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.</p><p><b>METHODS</b>Mutations of VHL gene were detected in a Chinese family with nonsyndromic pheochromocytoma. Five patients and fifteen relatives were involved in this study. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of all the three exons of VHL gene were purified and a direct gene sequence analysis was performed.</p><p><b>RESULTS</b>All the five patients presented a codon 125 from Histidine (H) to Proline (P) change at nucleotide 587 (A --> C) in exon 2. Seven members of fifteen relatives were carriers with the same VHL gene mutation. Two carriers were detected with bilateral adrenal tumors and right renal cyst respectively by ultrasonic inspection.</p><p><b>CONCLUSION</b>The novel VHL gene mutation detected in this kindred may be the causative gene. Genetic test can detect the carriers in an early period. It is recommended as a routine method of genetic test in nonsyndromic pheochromocytoma patients.</p>