Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

Advancing Psychedelic-Assisted Therapy in Missouri (MO-PAT): Innovation at the Speed of Safety.

The United States is facing a growing behavioral health crisis. Now more than ever, novel, safe and effective treatments are needed. Over the past decade, clinical trials of psychedelic-assisted psychotherapies (PAT) have shown promising results for treating a number of common behavioral health conditions with minimal adverse effects.

Genomics-informed neuropsychiatric care for neurodevelopmental disorders: Results from a multidisciplinary clinic.

Purpose: Patients with neurodevelopmental disorders (NDDs) have high rates of neuropsychiatric comorbidities. Genomic medicine may help guide care because pathogenic variants are identified in up to 50% of patients with NDDs. We evaluate the impact of a genomics-informed, multidisciplinary, neuropsychiatric specialty clinic on the diagnosis and management of patients with NDDs.

A Call to Action: Unraveling the Nuance of Adapted Eating Behaviors in Individuals with GI Conditions.

The primary aim of this expert narrative review is to unravel the complexities of feeding and eating disorders in the gastroenterology practice setting. We aim to critically assess current assessment screening tools for eating and feeding disorders to gain a comprehensive understanding of how these tools may be misconstrued in the context of gastrointestinal (GI) conditions. Additionally, our objective is to highlight the potential for over-pathologizing and under-pathologizing eating behavior in this patient population.

Discovering EEG biomarkers of Lennox-Gastaut syndrome through unsupervised time-frequency analysis.

Objective: The discovery and validation of electroencephalography (EEG) biomarkers often rely on visual identification of waveforms. However, bias toward visually striking events restricts the search space for new biomarkers, and low interrater reliability can limit rigorous validation. We present a data-driven approach to biomarker discovery called scalp EEG Pattern Identification and Categorization (s-EPIC), which enables automated, unsupervised identification of EEG waveforms.