Cholangiocarcinoma in a 17-year-old boy with primary sclerosing cholangitis and UroVysion™ fluorescent in situ hybridization.

Primary sclerosing cholangitis (PSC) is uncommon in the younger age range and bile duct brushing cytology can present unique challenges. We describe the case of a 17-year-old boy with a new diagnosis of PSC who presented with cholangiocarcinoma. The clinical history, endoscopic features, cytomorphologic findings, and results of UroVysion™ fluorescent in situ hybridization (FISH) on the bile duct brush are described. UroVysion FISH on bile duct brushings is an ancillary study that can improve the diagnostic sensitivity for malignancy, specially in challenging cases where the cytomorphologic or clinical characteristics of the case are not typical. The occurrence of cholangiocarcinoma in young age group with PSC is uncommon, and the utilization of UroVysion FISH has been rarely described.

Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.

Denys-Drash syndrome, characterized by nephrosis, dysgenetic gonads and a predisposition to Wilms tumor, is due to germline mutations in the WT1 gene. We report the pathologic findings on monozygotic twins, both of whom presented with male pseudohermaphroditism, nephrotic syndrome, and progressed to renal failure and death within the first month of life. Sequence analysis of WT1 demonstrated a G-to-A substitution in exon 8 of the gene (c.1097G > A), resulting in an arginine-to-histidine (R366H) substitution in the second zinc finger domain. To the best of our knowledge, this is only the second set of monozygotic twins with Denys-Drash syndrome reported to date.

FL-41 tint improves blink frequency, light sensitivity, and functional limitations in patients with benign essential blepharospasm.

OBJECTIVE: The objective of these 2 studies was to assess the efficacy of FL-41-tinted lenses in the treatment of benign essential blepharospasm (BEB). DESIGN: A randomized crossover study and a randomized crossover case-control study. PARTICIPANTS: The first study included 30 subjects with BEB. The second study included 26 subjects with BEB and 26 controls. METHODS: For the first study, subjects were randomized to wear either FL-41 or gray-tinted lenses for 2 weeks. After a 2-week washout period, the other lens was worn for 2 weeks. Questionnaires were completed at baseline, after the first lens, and after the second lens. In the second study, surface electromyography (EMG) was used to measure blink frequency, duration, and force while subjects read and wore FL-41, rose, or gray-tinted lenses. MAIN OUTCOME MEASURES: Questionnaires were used to assess perceptions of light sensitivity and the effect of light sensitivity on activities of daily living (ADL). EMG was used to measure blink frequency, duration, and force. RESULTS: Most participants observed improvement while wearing both FL-41 and gray-tinted lenses. FL-41-tinted lenses provided superior improvement in the areas of reading, fluorescent light sensitivity, overall light sensitivity, blepharospasm frequency, and blepharospasm severity. FL-41 lenses reduced mean blink rate compared with both rose and gray-tinted lenses, and reduced eyelid contraction force compared with rose-tinted lenses. CONCLUSIONS: FL-41 lenses provided both subjective and objective benefit to subjects with BEB. Physicians should consider recommending this noninvasive and inexpensive lens tint to patients with BEB. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

Efficient immobilization of a cadmium chemosensor in a thin film: generation of a cadmium sensor prototype.

[reaction: see text] The development of an ion-selective chemosensor for Cd(2+) allows generation of a "real-time" sensor. Immobilization of the chemosensor on quartz was achieved in a simple monolayer and in a thin film using a polymer intermediary. As intended, the thin film contains much more chemosensor than the monolayer and provides measurable responses to aqueous Cd(2+) concentrations below 1 microM. Alkali and alkaline earth ions do not interfere with Cd(2+) sensing; Zn(2+) and Cu(2+) are potential interferents.