A novel variant associated with NEDDFSA and new ocular features: case report and review of literature.

Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.

Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.

Rutin and Extract: Population Pharmacokinetics in New Zealand Rabbits.

An extract of calyces from with hypoglycemic activity is being considered as a potential herbal medicine. Preclinical pharmacokinetics (PK) studies of the extract in rats, focusing on plasma concentrations of its main compound, rutin, and its metabolites, revealed PK interactions in the extract matrix that improved the absorption of rutin metabolites compared to the pure compound, among other PK effects. This research aimed to study the PK of rutin alone and in the extract and assess potential PK interactions in the extract matrix on the flavonoid and its metabolites in rabbits, a nonrodent species; Animals received pure rutin or extract orally and intravenously.

Clinical, neurocognitive, neurobiological and functional correlates of sleep difficulties in individuals at-risk for psychosis and mania: A scoping review.

Sleep difficulties are highly prevalent among individuals with schizophrenia and bipolar disorder (BD), playing key roles in the onset, clinical presentation, and course of psychotic and manic episodes. However, less is known about sleep difficulties and their sequelae among individuals at-risk for psychosis and mania. Therefore, we conducted a scoping review of sleep disturbances among individuals at-risk for psychosis or mania.

Antidiabetic Effect of Leaves in High Fat-Diet/Streptozotocin-Induced Diabetic Mice.

Type 2 diabetes mellitus (T2DM) is a major global public health concern, prompting the ongoing search for new treatment options. Medicinal plants have emerged as one such alternative. Our objective was to evaluate the antidiabetic effect of an extract from the leaves of ().