Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.

Topical Bimatoprost Insert for Primary Open-Angle Glaucoma and Ocular Hypertension Treatment - A Phase II Controlled Study.

INTRODUCTION: The most common treatment for Primary Open-Angle Glaucoma (POAG) is the daily use of eye drops. Sustained-release drug delivery systems have been developed to improve patient adherence by achieving prolonged therapeutic drug concentrations in ocular target tissues while limiting systemic exposure. The purpose of this study is to compare the efficacy and safety of bimatoprost inserts with bimatoprost eye drops in patients with POAG and Ocular Hypertension (OH). METHODS: We include OH and POAG patients aged between 40 and 75 years-old. Both OH and POAG patients had intraocular pressure (IOP) greater than 21 and ≤30 mmHg at 9:00 am without glaucoma medication and normal biomicroscopy. Five normal patients with IOP≤14 mmHg constitute the control group. A chitosan-based insert of bimatoprost was placed at the upper conjunctival fornix of the right eye. In the left eye, patients used one drop of LumiganTM daily at 10:00 pm. For statistical analysis, a two-way analysis of variance (ANOVA), Student t-test, and paired t-test is used. RESULTS: Sixteen POAG and 13 OH patients with a mean age of 61 years were assessed. In both eyes, IOP reduction was similar during three weeks of follow-up (19.5±2.2 mmHg and 16.9±3.1 mmHg), insert, and eye drop, respectively; P=0.165). The percentage of IOP reduction in the third week was 30% for insert and 35% for eye drops (P=0.165). No intolerance or discomfort with the insert was reported. Among the research participants, 58% preferred the use of the insert while 25% preferred eye drops, and 17% reported no preference. CONCLUSION: Bimatoprost-loaded inserts showed similar efficacy to daily bimatoprost eye drops during three weeks of follow up, without major side effects. This might suggest a possible change in the daily therapeutic regimen for the treatment of POAG and OH.

Preoperative prognostic factors in patients with ductal adenocarcinoma of the head of the pancreas. / Fatores prognósticos pré-operatórios em pacientes com adenocarcinoma ductal da cabeça do pâncreas.

OBJECTIVE: To identify the preoperative prognostic factors influencing pancreatic cancer survival following curative resection in a single Brazilian institution. METHODS: From 2005 to 2018, preoperative clinic, demographic and laboratory data were prospectively collected. Survival analysis was performed by the Kaplan-Meier method and the comparison between curves by the log-rank test. For multivariate analysis, the Cox regression model was used. RESULTS: advanced age (p = 0.012) and previous history of cancer (p = 0.026) were the preoperative factors, according to the univariate analysis, that significantly impacted survival. Patients with preoperative serum levels of CA 19.9 from 38 to 554 U/mL had a 3.15 times higher chances of death (HR 3.15; 95% CI 1.01-9.82; p = 0.047), whereas patients with the marker above 554 U/mL were 3.96 times more likely than those with the normal level (HR 3.96; 95% CI 1.19-13.10; p = 0.024), by using the multivariate analysis. Patients with previous comorbidities had a 2.90 times higher chance of death than those without associated conditions (HR 2.90; 95% CI 1.10-7.67; p = 0.032). CONCLUSION: Preoperative factors related to the worst prognosis after pancreatic ductal adenocarcinoma resection were advanced age, presence of comorbidities, previous history of cancer and elevated preoperative serum CA 19.9.

OBJETIVOS: Identificar fatores prognósticos pré-operatórios relacionados à sobrevida de pacientes com adenocarcinoma ductal da cabeça de pâncreas (ADCP) submetidos a tratamento cirúrgico com intenção curativa em uma única instituição brasileira. MÉTODO: No período de 2005 a 2018, dados clinicodemográficos e laboratoriais pré-operatórios foram prospectivamente coletados. A análise de sobrevida foi feita pelo método de Kaplan-Meier e a comparação entre as curvas pelo teste de log-rank. Para a análise multivariada utilizou-se o modelo de regressão de Cox. RESULTADOS: Os fatores pré-operatórios com impacto significativo na sobrevida à análise univariada foram a idade maior ou igual a 70 anos (p=0,012) e história pessoal prévia positiva para câncer (p=0,026). A análise multivariada, pacientes com níveis séricos pré-operatórios de CA 19.9 de 38 a 554 U/ml apresentaram 3,15 vezes maior chance de óbito (HR 3,15; IC 95% 1,01 - 9,82; p=0,047), enquanto que os pacientes com o marcador acima de 554 U/ml evoluíram com chance 3,96 vezes maior de óbito que aqueles com a dosagem normal (HR 3,96; IC 95% 1,19 - 13,10; p=0,024). Pacientes com comorbidades prévias evoluíram com chance 2,90 vezes superior de óbito que doentes sem condições associadas (HR 2,90; IC 95% 1,10 - 7,67; p=0,032). CONCLUSÃO: O ADCP mostrou ser doença agressiva para a qual os fatores pré-operatórios de pior prognóstico foram idade avançada, presença de comorbidades, história prévia de câncer e nível sérico de CA 19.9 elevado no pré-operatório.