Possibility of genetic therapy for inherited retinal conditions.

Objective: To evaluate the possibility of gene therapy in patients with inherited ocular conditions and established genetic diagnosis. The secondary objectives were to determine the genetic diagnostic rate and to update the list of genes for which there are ongoing clinical trials or preclinical studies that could allow for gene therapy.

Methods: Observational, retrospective, multicentric study of 177 patients with inherited ocular conditions that underwent genetic testing.

Intra-arterial chemotherapy for retinoblastoma treatment in Chile: Experience and results 2013-2020.

Objective: To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications.

Methods: Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma.

Maternal and perinatal outcomes of a venous thromboembolism high-risk cohort using a multidisciplinary treatment approach.

Objective: To evaluate the maternal and perinatal outcomes in a cohort of pregnant women at high risk of venous thromboembolism (VTE).

Methods: Women at high risk of VTE were evaluated in a multidisciplinary program using a complete diagnostic workup, and specific prophylactic or therapeutic treatment.

Results: Women were considered at high risk of VTE in 57% (85/148) because of prior (75) or current (10) thromboembolism, and in 27% (40/148) of the cases due to adverse obstetric history.

The Myometrium in Pregnant Women with Obesity.

Obesity is a worldwide public health problem, affecting at least one-third of pregnant women. One of the main problems of obesity during pregnancy is the resulting high rate of cesarean section. The leading cause of this higher frequency of cesarean sections in obese women, compared with that in nonobese women, is an altered myometrial function that leads to lower frequency and potency of contractions.

Genetic testing for inherited ocular conditions in a developing country.

: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination.