Xanthogranulomatous orchitis: Review of the published work and report of one case

Xanthogranulomatous orchitis is an extremely rare inflammatory non-neoplastic destructive lesion of the testis. We report a 44-year-old man who presented with right scrotal swelling and two discharging sinuses. Testicular tumor markers were normal. Scrotal ultrasound showed heterogeneous testicular areas and irregular margin of the tunica. Surgical exploration revealed infected, unhealthy testicular tissue with necrosis and tumor-like lesion. Orchidectomy was done and histopathology showed xanthogranulomatous orchitis.     

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.

Hirschsprung disease (HSCR) is considered a model for a complex inheritance disorder. Several genes, including the major HSCR-susceptibility RET proto-oncogene, play an aetiological role in the development of HSCR. Genetic linkage analysis in familial HSCR with both long- and short-segment phenotypes has demonstrated a tight linkage to the RET locus, while the phenotype within a HSCR family is characterised by an incomplete penetrance or a variable extension of the aganglionosis. Therefore, additional genetic alterations of RET are postulated in the aetiology or modification of the HSCR phenotype. In this study, the coding region of all 21 exons of the RET proto-oncogene, including the flanking intronic sequences, were investigated by direct DNA sequencing in a HSCR population. We genotyped the c.135 G/A polymorphism and resolved haplotypes comprising the mutation locus and the c.135 G/A polymorphism. Twenty different mutations were detected in 18 of 76 HSCR patients. In ten families the mutations were inherited from the parents, while only four patients had a positive family history for the disease. Moreover, in all ten families an incomplete penetrance of the HSCR phenotype was observed. We have investigated the effect of the non-mutated wild-type allele as well as the c.135 G/A polymorphism on the phenotype within the HSCR families. Our findings support the notion that both RET alleles are involved in the pathogenesis of a subgroup of HSCR patients in a dose-dependent fashion. Additionally, we have shown a modifying effect of the c.135 G/A polymorphism on the HSCR phenotype within HSCR families.     

Vascular endothelial growth factor expression and bone formation in posterior glenoid fossa during stepwise mandibular advancement.

This study assessed the amount of vascular endothelial growth factor (VEGF) expression and related the findings to new bone formation in the posterior glenoid fossa during stepwise mandibular advancement. A total of 250 female Sprague-Dawley rats, 35 days old, were randomly divided into 10 groups, each including 5 control and 20 experimental rats. Within each group, 10 experimental rats were fitted with functional appliances with a 1-step advancement of 3.5 mm. Another 10 were fitted with stepwise appliances with an initial advancement of 2 mm and a subsequent increase to 3.5 mm on day 30. The rats in the experimental groups were killed on days 3, 7, 14, 21, 30, 33, 37, 44, 51, and 60, respectively. The matched controls were killed on the same time points. Sections (7 microm) were cut through the glenoid fossa sagittally and stained with anti-VEGF antibody. VEGF expression in the posterior glenoid fossa was evaluated with a computer-assisted image-analyzing system. Both VEGF expression and new bone formation were greater in the experimental rats than in the controls. During stepwise advancement, initial VEGF expression was less than that of 1-step advancement, but the second advancement elicited another peak on day 44. New bone formation was also less than that of 1-step advancement during early stages of stepwise advancement but then began to increase from day 37 onward. The maximum increase was observed on day 60. Stepwise advancement of the mandible delivers mechanical stimuli that produce a series of tissue responses that lead to increased vascularization and bone formation.