[Neurocognitive Performance in Euthymic Bipolar I Patients With and Without History of Psychosis From a Multimodal Intervention Program: PRISMA].

Background: Patients with bipolar disorder type I (BDI) have an increased prevalence of psychotic symptoms, and these have been associated with higher cognitive impairment; however the issue has not been settled with the available evidence.

Objective: To determine if the history of psychotic symptoms in a Colombian sample with BDI is associated with greater cognitive impairment.

Methods: A case-control study was performed that included patients with BDI from the l PRISMA study.

A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.

Objective: A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). A clinical and molecular characterization of a patient with BPES type I was performed.

Method: We present a 16-year-old adolescent girl with surgically treated blepharophimosis, ptosis, and epicanthus inversus that was associated with delayed puberty and secondary amenorrhea at the age of 15, indicators that suggested that the patient had BPES type I.

Total carnitine and acylated carnitine ratio: relationship of free carnitine with lipid parameters in pediatric dialysis patients.

Carnitine has an essential role in the mitochondrial oxidation of long-chain fatty acids. Carnitine deficiency has been described in patients with chronic kidney disease. Total carnitine (TC) deficiency or a lower-than-normal ratio of free carnitine to acylated carnitine (FC:AC) has been shown to be associated with disorders in metabolism and plasma lipids.