METHODS: This was a prospective observational study carried out at a tertiary referral centre. POAG patients on topical antiglaucoma medications and planned for phaco-ECP were recruited. WDT was performed before surgery and 6 weeks postoperatively by drinking 10 mL/kg of water in 5 min followed by serial IOP by Goldmann applanation tonometry measurements at 15, 30, 45, and 60 min. Mean IOP, IOP fluctuation (difference between highest and lowest IOP), IOP reduction, and factors affecting IOP fluctuation were analysed.

RESULTS: Twenty eyes from 17 patients were included. Baseline IOP was similar before (14.7 ± 2.7 mm Hg) and after (14.8 ± 3.4 mm Hg, p = 0.90) surgery. There was no difference in mean IOP (17.6 ± 3.4 mm Hg vs. 19.3 ± 4.7 mm Hg pre- and postoperative, respectively, p = 0.26) or peak IOP (19.37 ± 3.74 mm Hg vs. 21.23 ± 5.29 mm Hg, p = 0.25), albeit a significant reduction in IOP-lowering medications (2.2 ± 1.15 vs. 0.35 ± 0.93, p < 0.001) postoperatively. IOP fluctuation was significantly greater (6.4 ± 3.2 mm Hg vs. 4.6 ± 2.1 mm Hg, p = 0.015) with more eyes having significant IOP fluctuation of ≥6 mm Hg (11 eyes [55%] vs. 4 eyes [20%], p < 0.001) postoperatively. Factors that were significantly associated with increased postoperative IOP fluctuations were higher preoperative IOP fluctuation (β = 0.69, 95% CI 0.379-1.582, p = 0.004) and more number of postoperative antiglaucoma medications (β = 0.627, 95% CI 0.614-3.322, p = 0.008).

MATERIALS AND METHODS: We retrospectively analysed 691 allogeneic PBSCT patients between 2010-2017 in two centers.

RESULTS: The prevalence of cutaneous GVHD was 31.4% (217/691). No associations were detected with race, age or gender of donor and recipients. Cutaneous GVHD was associated with host cytomegalovirus (CMV) seropositivity (p<0.01), conditioning (p<0.01), GVHD prophylaxis (p=0.046) and survival (p<0.01). Majority developed the acute form (58.1%;126/217). Biopsies in 20.7% (45/217) showed 55.6% positivity for GVHD. Overall, involvement was non-severe. A majority demonstrated complete response (CR) to first-line corticosteroids (70.0%;152/217). Secondline therapies (extracorporeal phototherapy (ECP), psolaren ultraviolet A (PUVA), mycophenolate, tumour necrosis factor (TNF) inhibitors, interleukins inhibitors, or CD20 monoclonal antibodies) were required in 65/217, with 38.5% CR. Second-line therapy was associated with gender (p=0.042), extra-cutaneous GVHD (p=0.021), treatment outcomes (p=0.026) and survival (p=0.048). Mortality in cutaneous GVHD was 24.0% with severe sepsis being the leading cause at Day 100 (7.8%) and 5-years (7.8%), and relapsed disease at 2-years (32.7%). In steroid refractoriness, severe GVHD caused 30.8% mortality. In cutaneous GVHD, survival at Day 100 was 95.4%; 80.2% at 2-years and 73.1% at 5-years. The median survival in cutaneous GVHD was significantly shorter at 55 months, compared to those without GVHD at 69 months (p=0.001).

METHOD: Targeted sequencing of fourteen genes panel was performed to identify the mutations in 29 OI patients with type I, III, IV and V disease. The mutations were determined using Ion Torrent Suite software version 5 and variant annotation was conducted using ANNOVAR. The identified mutations were confirmed using Sanger sequencing and in silico analysis was performed to evaluate the effects of the candidate mutations at protein level.

RESULTS: Majority of patients had mutations in collagen genes, 48% (n = 14) in COL1A1 and 14% (n = 4) in COL1A2. Type I OI was caused by quantitative mutations in COL1A1 whereas most of type III and IV were due to qualitative mutations in both of the collagen genes. Those with quantitative mutations had milder clinical severity compared to qualitative mutations in terms of dentinogenesis imperfecta (DI), bone deformity and the ability to walk with aid. Furthermore, a few patients (28%, n = 8) had mutations in IFITM5, BMP1, P3H1 and SERPINF1.