Testicular torsion: A retrospective investigation of predictors of surgical outcomes and of remaining controversies.

INTRODUCTION: Testicular torsion (TT), a common surgical emergency worldwide, is typically treated with orchiectomy or orchiopexy. It is widely accepted that the chance of salvaging the testicle declines with time and degree of torsion. The impact of ethnicity on outcome is less well understood, and the association between weather and onset of TT remains a controversy. OBJECTIVES: It is important to know the signs of TT so that appropriate treatment can be given quickly. The purpose of this study was to provide a detailed analysis of registered cases of TT in adolescent patients diagnosed at a single institution to better understand the association between clinical indicators and surgical outcomes and to examine some remaining controversies in the literature on TT. STUDY DESIGN: A retrospective chart review was conducted, using medical records from the present institution. Data were collected for 165 patients who met the following inclusion criteria: 1) adolescent males between 10 and 18 years of age at the time of diagnosis, and 2) TT between January 2001 and June 2013. RESULTS: Of the 165 patients, 38% had orchiectomies. Patients with orchiectomies had longer wait times for surgery (p < 0.0001)-but not greater driving times, driving distances, or degrees of torsion-than those with orchiopexies (Table). Yet, among patients who waited less than the median wait time to surgery (197 min), patients with orchiectomies had greater degrees of torsion than did those with orchiopexies (p = 0.02). Assuming that patients without reference to presence of bell clapper deformity in their medical notes did not have the deformity, those with orchiectomies were less likely to have bell clapper deformity than were those with orchiopexies (p < 0.01). Although mean atmospheric temperature was unassociated with onset of TT and with surgical outcome in general, patients without bell clapper deformity had TT on relatively colder days (p = 0.02). DISCUSSION AND CONCLUSION: Wait time to surgery positively correlates with orchiectomy. Early identification and intervention is vital to testicular salvage. As the degree of torsion increases, the blood supply to the affected testis decreases and the time required to inflict testicular vascular damage decreases. Our results showed the presence of the bell clapper deformity moderated the relationship between temperature and TT: Those without the deformity had torsions on colder days than did those with the deformity. A comprehensive multi-centered study could help draw further conclusions regarding temperature correlation and the bell clapper deformity.

Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare degenerative neurological disorder characterized by pontobulbar palsy and sensorineural deafness. Since its initial description in 1894, fewer than 100 cases have been reported, and published neuropathological analyses of these cases are extremely rare. Recently, individuals with BVVLS have been found to carry mutations in the C20orf54 gene, which encodes the human homolog for a rat riboflavin transporter. We present the case of a male who presented at the age of 5 years with sensorineural deafness, as well as those of 2 infant sisters who presented at 11 and 13 months of age with weakness and ataxia, respectively. All cases were genetically confirmed. We include the 1st immunohistochemical characterization of C20orf54 expression in BVVLS and controls. Results showed punctate axonal staining in the control cases that was dramatically reduced in the 3 BVVLS cases compared to the 5 controls. This decreased staining was seen even in the neocortex, which was unaffected in the BVVLS cases by routine histology. While the implications of these results are far from definitive, and although the evaluation of more cases is needed, immunohistochemistry for the C20orf54 protein may eventually be useful, in the right clinical scenario, as a screening test when selecting cases for sequencing of the C20orf54 gene to diagnose BVVLS at autopsy.

Molecular diagnosis of subcutaneous Pythium insidiosum infection by use of PCR screening and DNA sequencing.

Pythium insidiosum is an emerging human pathogen classified among brown algae and diatoms that can cause significant morbidity and mortality in otherwise healthy individuals. Here we describe a pediatric patient with pythiosis acquired in the southern United States, diagnosed by molecular screening and DNA sequencing of internal transcribed spacer region 1.