Multidisciplinary management of endocrinopathies and treatment-related toxicities in patients with Bloom syndrome and cancer.

The treatment of malignancy in cancer predisposition syndromes that also confer exquisite sensitivity to standard chemotherapy and radiation regimens remains a challenge. Bloom syndrome is one such disorder that is caused by a defect in DNA repair, predisposing to the development of early-onset age-related medical conditions and malignancies. We report on two patients with Bloom syndrome who responded well to chemotherapy despite significant alterations to standard protocols necessitated by hypersensitivity. Both patients experienced severe toxicities and exacerbation of endocrine comorbidities during chemotherapy. A multidisciplinary team of oncologists and endocrinologists is best suited to care for this patient population.

Microsurgery for ARUBA Trial (A Randomized Trial of Unruptured Brain Arteriovenous Malformation)-Eligible Unruptured Brain Arteriovenous Malformations.

BACKGROUND AND PURPOSE: The management of unruptured brain arteriovenous malformations (ubAVMs) remains controversial despite ARUBA trial (A Randomized Trial of Unruptured Brain Arteriovenous Malformation), a controlled trial that suggested superiority of conservative management over intervention. However, microsurgery occurred in only 14.9% of ARUBA intervention cases, raising concerns about the study's generalizability. Our purpose was to evaluate whether, in a larger ARUBA-eligible ubAVM population, microsurgery produces acceptable outcomes. METHODS: Demographic data, AVM characteristics, and treatment outcomes were evaluated in 155 ARUBA-eligible bAVMs treated with microsurgery between 1994 and 2014. Outcomes were rates of early disabling deficits and permanent disabling deficits with modified Rankin Scale score ≥3 or any permanent neurological deficits with modified Rankin Scale score ≥1. Covariates associated with outcomes were determined by regression analysis. RESULTS: Of 977 AVM patients, 155 ARUBA-eligible patients had microsurgical resection (71.6% surgery only and 25.2% with preoperative embolization). Mean follow-up was 36.1 months. Complete obliteration was achieved in 94.2% after initial surgery and 98.1% on final angiography. Early disabling deficits and permanent disabling deficits occurred in 12.3% and 4.5%, respectively, whereas any permanent neurological deficit (modified Rankin Scale score ≥1) occurred in 16.1%. Among ubAVM of Spetzler-Martin grades 1 and 2, complete obliteration occurred in 99.2%, with early disabling deficits and permanent disabling deficits occurring in 9.3% and 3.4%, respectively. Major bleeding was the only significant predictor of early disabling deficits on multivariate analysis (P<0.001). CONCLUSIONS: Microsurgery in this cohort produced less disabling deficits than ARUBA with similar morbidity and AVM obliteration as other cohort series. This disparity between our results and ARUBA suggests that future controlled trials should focus on the safety and efficacy of microsurgery with or without adjunctive embolization in carefully selected ubAVM patients.

Changes in corneal curvatures and anterior segment parameters after descemet stripping automated endothelial keratoplasty.

PURPOSE: To evaluate the influence of Descemet stripping automated endothelial keratoplasty (DSAEK) on corneal curvature and the anterior segment parameters obtained with the Pentacam rotating Scheimpflug camera. METHODS: A total of 9 eyes of 9 consecutive patients (3 men, 6 women) were evaluated preoperatively, at 1 and 3 months postoperatively with the Pentacam. We compared preoperative and 1- and 3-month postoperative measurements of anterior and posterior corneal curvature, anterior and posterior corneal astigmatism, anterior chamber depth (ACD), anterior chamber volume (ACV), anterior chamber angle (ACA) width, central corneal thickness (CCT), and the corneal volume (CV). RESULTS: Preoperative CCT decreased from 687 ± 85 microns to 631 ± 68 microns at 3 months after surgery (p = 0.07). Anterior mean K reading of the cornea flattened from 43.3 ± 1.65 diopter before surgery to 42.7 ± 1.5 diopter at 3 months (p = 0.03). Anterior corneal astigmatism did not change significantly. Posterior mean K reading of the cornea steepened significantly from -5.6 ± 0.6 diopter preoperatively to -7.2 ± 0.4 diopter at 3 months (p = 0.007). Posterior corneal astigmatism increased accordingly from 0.52 ± 0.17 diopter before surgery to 0.95 ± 0.57 diopter at 3 months (p = 0.07). CV increased significantly from 65.8 ± 5.6 µl before surgery to 85.2 ± 4.2 µl at 3 months (p = 0.007). ACA, ACD, and ACV did not change significantly following DSAEK surgery. The average postoperative spherical equivalent changed from 0.5 ± 2.5 D before surgery to 1.41 ± 0.59 D three months after surgery (p = 0.05). CONCLUSIONS: DSAEK significantly increased posterior corneal k-reading, posterior corneal astigmatism, and corneal volume, resulting in a mild hyperopic shift. This observation should be taken into consideration when performing a triple procedure.

Topical treatment with 1% cyclosporine for subepithelial infiltrates secondary to adenoviral keratoconjunctivitis.

PURPOSE: To evaluate the treatment with topical 1% cyclosporine A (CsA) in patients with subepithelial corneal infiltrates (SEIs). METHODS: We retrospectively reviewed the records of 9 patients (12 eyes) before and after the treatment with CsA 1% eyedrops twice daily. All patients had been treated with topical corticosteroids previously without improvement or had to stop the medication secondary to intraocular pressure elevation. The objective data recorded included best-corrected Snellen visual acuity, intraocular pressure, number of medications in use, and evaluation of severity of SEIs (improved, stable, or worse). For their subjective evaluation, patients were asked to complete a questionnaire based on the last follow-up visit. RESULTS: Five males (56%) and 4 females (44%), mean age of 47 +/- 13 years, were included. Mean follow-up on CsA was 13 +/- 7 months. The mean best-corrected Snellen visual acuity (logarithm of the minimum angle of resolution) before and after treatment was 0.42 +/- 0.40 and 21 +/- 0.28, respectively, with no statistically significant improvement. There was statistically significant reduction in the number of medications before and after treatment from 1.88 +/- 1.05 to 1.22 +/- 0.44, respectively (P = 0.049). Six patients (66%) showed clinical improvement, and 3 (34%) were stable during the treatment period. Patients reported statistically significant reduction in the severity of symptoms before and after the treatment. Most of the patients reported no foreign body sensation, glare, or other side effects with topical CsA treatment. Overall, patients noted an improvement in vision and satisfaction with CsA treatment. CONCLUSIONS: Topical CsA 1% is a safe and effective alternative treatment in patients with SEIs who do not respond to other treatment modalities or have unwanted side effects from topical steroids.

Diagnosis of steroid-induced elevated intraocular pressure and associated lamellar keratitis after laser in situ keratomileusis using optical coherence tomography.

A 52-year-old man had laser in situ keratomileusis (LASIK) for treatment of a post-keratoplasty refractive error. At the 6-week postoperative visit, haziness was noted in the donor cornea and Snellen visual acuity had decreased to 20/400. Goldmann applanation tonometry revealed an intraocular pressure (IOP) of 2 mm Hg at the center of the cornea but an elevated IOP at the periphery. Visante optical coherence tomography (OCT) and corneal topography were performed, and steroid-induced lamellar keratitis (SILK) was diagnosed. Topical antiglaucoma medications were started, and steroid treatment was switched to fluorometholone. At the last follow-up visit, 2 weeks after treatment was started, the visual acuity was 20/60 and the IOP was controlled at 18 mm Hg centrally and at the periphery. The use of Visante OCT and corneal topography were helpful in diagnosing SILK and monitoring its resolution.

The effect of mitomycin C on corneal endothelium in pterygium surgery.

PURPOSE: To evaluate the changes in endothelial cell counts in patients after pterygium surgery with mitomycin C (MMC) 0.02% and to compare them with patients undergoing pterygium excision without MMC. DESIGN: Prospective nonrandomized study. METHODS: Forty-three consecutive patients were included in this study. Sixteen patients underwent pterygium surgery with conjunctival autograft and MMC for recurrent pterygium and 27 patients underwent pterygium excision without MMC for primary pterygium removal (control group) at the Toronto Western Hospital. Endothelial images were acquired at the center of the cornea with a specular microscope before surgery and at one week, one month, and three months following surgery. RESULTS: Mean preoperative endothelial cell counts were 2330 +/- 318 cells/mm(2) in the pterygium excision without MMC group and 2486 +/- 327 cells/mm(2) in the pterygium excision with MMC group (P = .13). One month after surgery, the pterygium with MMC group showed a significant endothelial cell loss of 6% which was not present in the control group (P = .03). Three months after surgery, endothelial cell loss was reduced to 4%. (P = .08 compared with the control). In the pterygium excision with MMC group, endothelial polymeghatism was increased (at one and three months) and the percentage of hexagomal cells was reduced (at one month). CONCLUSIONS: The use of topical MMC during recurrent pterygium surgery was found to have a deleterious effect on corneal endothelium one month following surgery. Judicious use of this drug is therefore recommended.