Are Carriers Unaffected? A Literature Review of Metabolic and Health Outcomes among Genetic Carriers of Phenylketonuria.

Background: Phenylketonuria (PKU) is an autosomal recessive genetic condition that results in reduced enzymatic functioning within the phenylalanine hydroxylase (PAH) pathway, which is involved in the metabolism of phenylalanine (Phe) into tyrosine (Tyr). Without dietary intervention, individuals with PKU exhibit significantly elevated levels of Phe, which is presumed to cause severe neurological dysfunction and other associated health risks. Carriers of PKU are heterozygotes for a PAH gene mutation and are typically described in the literature as "unaffected.

A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics.

There is a significant lack of consistency used to determine the scientific validity of nutrigenetic research. The aims of this study were to examine existing frameworks used for determining scientific validity in nutrition and/or genetics and to determine which framework would be most appropriate to evaluate scientific validity in nutrigenetics in the future. A systematic review (PROSPERO registration: CRD42021261948) was conducted up until July 2021 using Medline, Embase, and Web of Science, with articles screened in duplicate.

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective genome sequencing, a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping has not been reported. Here we report the results of a 3-y precision medicine study with a goal to integrate whole-genome sequencing with deep phenotyping.

An unsupervised learning approach to identify novel signatures of health and disease from multimodal data.

Background: Modern medicine is rapidly moving towards a data-driven paradigm based on comprehensive multimodal health assessments. Integrated analysis of data from different modalities has the potential of uncovering novel biomarkers and disease signatures.

Methods: We collected 1385 data features from diverse modalities, including metabolome, microbiome, genetics, and advanced imaging, from 1253 individuals and from a longitudinal validation cohort of 1083 individuals.

Impact of helical computed tomography on the rate of negative appendicitis.

Objective: To assess the impact of helical computed tomography (HCT) on the rate of negative appendicitis (NA).

Methods: A before-and-after comparison study comparing data from a prospective consecutive case series to data from a retrospective chart review. The prospective series included all patients presenting to the ED during a 19-month period, during which patients with suspected appendicitis were managed in accordance with a guideline that stipulated HCT in selected cases.

Ventilation patterns in patients with severe traumatic brain injury following paramedic rapid sequence intubation.

Introduction: Inadvertent hyperventilation has been documented during aeromedical transports but has not been studied following paramedic rapid sequence intubation (RSI). The San Diego Paramedic RSI Trial was designed to study the impact of paramedic RSI on outcome in patients with severe head injury. This analysis explores ventilation patterns in a cohort of trial patients undergoing end-tidal CO2 (ETCO2) monitoring.