Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, inherited, progressive disease caused by mutations in the transthyretin (TTR) gene. We aimed to assess the efficacy and safety of long-term treatment with patisiran, an RNA interference therapeutic that inhibits TTR production, in patients with ATTRv amyloidosis with polyneuropathy.
MethodsThis multi-country, multi-centre, open-label extension (OLE) trial enrolled patients at 43 sites in 19 countries as of 24 September 2018. Patients were eligible if they had completed the phase 3 APOLLO (randomised, double-blind, placebo-controlled [2:1], 18-month study) or phase 2 OLE (single-arm, 24-month study) parent studies and tolerated the study drug. Eligible patients from APOLLO (APOLLO-patisiran [received patisiran during APOLLO] and APOLLO-placebo [received placebo during APOLLO] groups) and the phase 2 OLE (phase 2 OLE patisiran group) studies enrolled in this Global OLE trial and receive patisiran 0•3 mg/kg by intravenous infusion every 3 weeks for up to 5 years. Efficacy assessments include measures of polyneuropathy (modified Neuropathy Impairment Score +7 [mNIS+7]), quality of life, autonomic symptoms, nutritional status, disability, ambulation status, motor function, and cardiac stress. Patients included in the current efficacy analyses are those who had completed 12-month efficacy assessments as of the data cut-off. Safety analyses included all patients who received ≥1 dose of patisiran up to the data cut-off. The Global OLE is ongoing with no new enrolment, and current findings are based on the 12-month interim analysis. The study is registered with ClinicalTrials.gov, NCT02510261.
To describe the clinical features and outcomes in patients with herpetic anterior uveitis. We reviewed the records of 111 patients with a clinical diagnosis of herpetic anterior uveitis seen at the Department of Ophthalmology, Istanbul Faculty of Medicine, from January 1996 to December 2006. Demographic and clinical features, recurrence rate, and visual outcome were analyzed. Fifty patients were male, 61 were female. Mean age at presentation was 39.2 ± 16.5 (6-74) years. Three atopic patients had bilateral involvement. Twelve patients had active or a past episode of herpes zoster ophthalmicus. Ocular findings were granulamatous anterior uveitis (93%), active keratitis or corneal scars (57%), elevated intraocular pressure (51%), iris atrophy (48%), distorted pupil (25%), and posterior synechiae (26%). Secondary glaucoma developed in two patients. None of the patients had posterior segment complications. The recurrence rate was 0.45/person-year. Topical corticosteroids and oral antiviral therapy were administered to all patients during active episodes. Long-term prophylactic oral acyclovir was used in 13%. Final visual acuity was worse than 0.5 in 17% of the involved eyes and was due to corneal scarring or cataract formation. Patients with iridocyclitis only had no permanent visual loss. Herpetic anterior uveitis is a recurrent granulomatous disease commonly associated with corneal involvement, iris atrophy, and transient intraocular pressure rise. Visual prognosis is good, especially in patients who have only anterior uveitis without corneal disease.
Purpose. To evaluate ocular findings in children with Down syndrome and to compare with the healthy children group. Methods. The study patients were divided into two groups as the diagnosed Down syndrome group and the control group. The study was designed as a prospective and single-center study in Istanbul University Faculty of Medicine Department of Ophthalmology. The study included 93 patients in the age range from 7 to 18 years, who applied to the ophthalmology department of our clinic in the period from July 2017 to June 2018. The study included the patients allocated into the control group and the Down syndrome patients allocated into the patient group, containing 49 and 44 participants, respectively. All patients underwent complete ophthalmologic examination with biomicroscopy. Autorefractometer measurements were performed in all patients, and the best corrected visual acuity (BCVA) was determined with the use of the Snellen chart. All patients underwent spectral domain optical coherence tomography (SD-OCT) measurements for central foveal retinal (CRT), subfoveal choroidal (CCT), and peripapillary retinal nerve fiber layer (pRNFL) thicknesses. Results. The average CRT was 241.2 ± 25.7 microns in Down syndrome group and 219.4 ± 21.1 microns in the control group. There was a statistically significant difference between the groups in regards to CRT (p<0.001). The average pRNFL values were 123.1 ± 15.4 microns in the Down syndrome group and 102.2 ± 8.7 microns in the control group (p<0.001). Conclusions. In the subjects with Down syndrome, the incidence of lens opacities, strabismus, and amblyopia was higher than the control group. CRT and pRNFL were thicker in the Down syndrome group than in control group. This may represent retinal developmental changes in the patients with Down syndrome.
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