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.

Evaluation of a 4-week interdisciplinary primary care cardiovascular health programme: impact on knowledge, Mediterranean Diet adherence and biomarkers.

Background: Cardiovascular disease (CVD) is the second-leading cause of death among Canadians. Clinical practice guidelines suggest that improvements to lifestyle, including dietary intake, can reduce the risk of CVD.

Objectives: The primary aim of the study was to evaluate patient changes in adherence to the Mediterranean Diet (Medi-Diet) from baseline to 4-week and 6-month follow-up after participating in a 4-week, group-based, interdisciplinary cardiovascular health programme run by healthcare professionals (HCPs) in a primary care setting.

Predispose, precipitate, perpetuate, and protect: how diet and the gut influence mental health in emerging adulthood.

Medicine often employs the 4Ps of , and factors to identify salient influences on illness states, and to help guide patient care. Mental illness is a significant cause of morbidity and mortality worldwide. Mental health is a complex combination of biological, psychological, environmental, and social factors.

Carriers of autosomal recessive conditions: are they really 'unaffected?'.

Mendel's Law of Dominance suggests that recessive disease expression requires the inheritance of two mutated alleles as the dominant, wildtype allele suppresses disease presentation leading to the expression of physiological normal phenotypes. However, there is existing evidence that challenges this school of thought. Here, we summarise existing literature evaluating metabolic and health impacts among carriers of autosomal recessive conditions, focusing on phenylketonuria (PKU), classical homocystinuria, galactosemia and Usher syndrome as examples.

The Impact of Nutrition, Physical Activity, Beneficial Microbes, and Fecal Microbiota Transplant for Improving Health.

The recognition that microbes are integral to human life has led to studies on how to manipulate them in favor of health outcomes. To date, there has been no conjoint recommendation for the intake of dietary compounds that can complement the ingested organisms in terms of promoting an improved health outcome. The aim of this review is to discuss how beneficial microbes in the form of probiotics, fermented foods, and donor feces are being used to manage health.

Modified Delphi Process to Identify Research Priorities and Measures for Adult Lifestyle Programs to Address Type 2 Diabetes and Other Cardiometabolic Risk Conditions.

Objectives: Clinical and community guidelines recommend lifestyle (i.e. diet and physical activity) interventions for cardiometabolic conditions (including type 2 diabetes), yet current evidence suggests limited and variable services in primary care and public health settings.

Clinical Practice Guidelines Using GRADE and AGREE II for the Impact of Genetic Variants on Plasma Lipid/Lipoprotein/Apolipoprotein Responsiveness to Omega-3 Fatty Acids.

Background: A recent systematic review, which used the GRADE methodology, concluded that there is strong evidence for two gene-diet associations related to omega-3 and plasma triglyceride (TG) responses. Systematic reviews can be used to inform the development of clinical practice guidelines (CPGs).

Objective: To provide guidance for clinical practice related to genetic testing for evaluating responsiveness to dietary/supplemental omega-3s and their impact on plasma lipids/lipoproteins/apolipoproteins.

Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Objectives: Despite the uptake of nutrigenetic testing through direct-to-consumer services and healthcare professionals, systematic reviews determining scientific validity are limited in this field. The objective of this review was to: retrieve, synthesise and assess the quality of evidence (confidence) for nutrigenetic approaches related to the effect of genetic variation on plasma lipid, lipoprotein and apolipoprotein responsiveness to omega-3 fatty acid intake.

Design: A systematic review was conducted using three search engines (Embase, Web of Science and Medline) for articles published up until 1 August 2020.

Towards a Standardized Definition of Medical Nutrition Therapy and Regulatory Reform in Canada.

Various definitions have been proposed to describe Medical Nutrition Therapy (MNT). Broadly, MNT encompasses the provision of nutrition information and advice aimed to prevent, treat, and/or manage health conditions. In Canada, the provision of such information and advice is unregulated, thus allowing anyone to provide MNT services regardless of their education and training.

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.