Bilateral perineal ectopic testes

Perineal testicular ectopia is seen very rarely, bilaterality is even more scarce and three cases have been reported in the literature. Here we present the fourth case with bilateral perineal ectopic testes.     

Neuroleptic malignant syndrome induced by ziprasidone on the second day of treatment.

Neuroleptic malignant syndrome (NMS) is the rarest and most serious of the neuroleptic-induced movement disorders. We describe a case of neuroleptic malignant syndrome (NMS) associated with the use of ziprasidone. Although conventional neuroleptics are more frequently associated with NMS, atypical antipsychotic drugs like ziprasidone may also be a cause. The patient is a 24-year-old male with a history of schizophrenia who developed signs and symptoms of NMS after 2 days of treatment with an 80-mg/day dose of orally administrated ziprasidone. This case is the earliest (second day of treatment) NMS due to ziprasidone reported in the literature.     

Dosimetric evaluation of the effect of dental implants in head and neck radiotherapy.

OBJECTIVE: The aim of the study was to examine the dose enhancement from scattered radiation at bone-dental implant interfaces during simulated head and neck radiotherapy. STUDY DESIGN: Four cylindrical titanium dental implants with 3 different sizes and lengths were implanted into a human mandible in 4 different positions. Ionization measurements for 6 MV X, 25 MV X, and Co-60 gamma rays were done. Thermoluminescent dosimeter (TLD 100 ) chips were used to measure radiation dose enhancement due to the scattered electrons from titanium and electronic disequilibrium at the tissue-metal interface. RESULTS: The results showed that for Co-60, there is a 21% maximum increase in dose to alveolar mandibular bone at the close proximity to the titanium. For 6-MV x-rays the dose enhancement increase was almost the same or slightly lower than for Co-60, while for 25-MV high-energy x-rays, dose enhancement was lower than that of others. This increase in dose enhancement fell off rapidly and became insignificant at 2 mm from the interface. CONCLUSION: Total dose that may lead to osteoradionecrosis risk of the mandible is slightly but not significantly affected by the scattered dose of the dental implants of lower jaw in the radiation field exposed to 3 different radiation beams.     

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.      

Nonoliguric renal failure after transurethral resection of prostate

PURPOSE: To define the relation of nonoliguric renal failure to transurethral resection of the prostate (TURP), its clinical importance, and predictive factors. PATIENTS AND METHODS: The files of 439 patients who had undergone TURP at Hacettepe University School of Medicine, Department of Urology, between January 1991 and 1994 were analyzed. The patients were divided into three groups according to postoperative serum creatinine concentration and the presence of clinical signs and symptoms of TUR syndrome (Group I: patients with preoperative and postoperative creatinine in the normal range; Group II: patients suffering nonoliguric renal failure; and Group III: patients with TUR syndrome). The data of the groups were compared in terms of factors influencing nonoliguric renal failure. RESULTS: The mean postoperative concentrations of sodium, blood urea nitrogen, creatinine, and albumin in Groups II and III were statistically different from those in Group I (P < 0.001). There was a moderate relation between hyponatremia and the occurrence of nonoliguric renal failure (r(s) = -0.56). Capsule perforation increased the risk of nonoliguric renal failure 10.6 fold. All of the patients were managed by a conservative approach, and none of the patients died or progressed to end-stage renal disease. They were all discharged with a mean hospitalization period of 7 days and normal renal function tests. CONCLUSION: Nonoliguric renal failure was thought to be an early step in the pathophysiology of TUR syndrome with acute renal failure. It is an asymptomatic clinical picture that is undiagnosed unless laboratory examinations are performed. A conservative therapeutic approach is enough.