Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.

Prediction of pharmacological response in OCD using machine learning techniques and clinical and neuropsychological variables.

Introduction: Obsessive compulsive disorder is associated with affected executive functioning, including memory, cognitive flexibility, and organizational strategies. As it was reported in previous studies, patients with preserved executive functions respond better to pharmacological treatment, while others need to keep trying different pharmacological strategies.

Material And Methods: In this work we used machine learning techniques to predict pharmacological response (OCD patients' symptomatology reduction) based on executive functioning and clinical variables.

Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis.

Autism is more frequently diagnosed in males, with evidence suggesting that females are more likely to be misdiagnosed or underdiagnosed. Possibly, the male/female ratio imbalance relates to phenotypic and camouflaging differences between genders. Here, we performed a comprehensive approach to phenotypic and camouflaging research in autism addressed in two studies.

Cognitive and clinical predictors of a long-term course in obsessive compulsive disorder: A machine learning approach in a prospective cohort study.

Background: Obsessive compulsive disorder (OCD) is a disabling illness with a chronic course, yet data on long-term outcomes are scarce. This study aimed to examine the long-term course of OCD in patients treated with different approaches (drugs, psychotherapy, and psychosurgery) and to identify predictors of clinical outcome by machine learning.

Method: We included outpatients with OCD treated at our referral unit.