Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple syrup urine disease (2014), phenylketonuria (2016) and propionic acidemia (2019). The purpose of this guideline is to establish harmonization in the treatment and monitoring of individuals with VLCAD of all ages in order to improve clinical outcomes. Six research questions were identified to support guideline development on: nutrition recommendations for the healthy individual, illness management, supplementation, monitoring, physical activity and management during pregnancy. This report describes the methodology used in its development including review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; expert input through two Delphi surveys and a nominal group process; and external review from metabolic physicians and dietitians. It includes the summary statements of the nutrition management recommendations for each research question, followed by a standardized rating based on the strength of the evidence. Online, open access of the full published guideline allows utilization by health care providers, researchers and collaborators who advise, advocate and care for individuals with VLCAD and their families and can be accessed from the Genetic Metabolic Dietitians International (https://GMDI.org) and Southeast Regional Genetics Network (https://southeastgenetics.org/ngp) websites.

Compliance with childhood cholesterol screening among members of a prepaid health plan.

OBJECTIVE: To assess compliance with cholesterol screening and intervention by children who were members of a prepaid health plan in which there was no financial barrier to intervention. RESEARCH DESIGN: Children with family histories of hypercholesterolemia, coronary heart disease, and stroke were advised to have a random cholesterol test. Those with total cholesterol levels of 4.80 mmol/L (185 mg/dL) or higher were asked to return for a fasting blood test; of this group, compliant subjects with low-density lipoprotein values of 3.25 mmol/L (125 mg/dL) or higher were offered a nutrition program. SETTING: Kaiser Permanente Medical Center, Oakland, Calif. SUBJECTS AND PARTICIPANTS: The parents of 1160 children aged 2 to 18 years who had routine pediatric appointments at Kaiser Permanente Medical Center were asked to complete screening forms on family history. SELECTION PROCEDURES: Children with family histories of hypercholesterolemia, coronary heart disease, and stroke were advised to have a random cholesterol test. Subjects with total cholesterol levels of 4.80 mmol/L or higher were asked to return for a fasting test, and subjects with low-density lipoprotein levels of 3.25 mmol/L or higher were offered a nutrition program. INTERVENTIONS: Telephone call, letter, low-cholesterol diet, and nutrition program. MAIN OUTCOME MEASURES: Of the 1,160 subjects contacted, 529 (46%) had positive family histories. Of these subjects, random blood cholesterol levels were determined for 369 (70%); 160 (30%) did not comply. Ninety-three subjects had total cholesterol levels of 4.80 mmol/L or higher; of these, 35 (38%) did not comply with follow-up testing. Of the 58 compliant subjects, 25 (43%) had low-density lipoprotein values of 3.25 mmol/L or higher and were offered either a 3-week or a 6-week nutrition program. Only nine subjects (36%) enrolled; 16 (64%) did not comply. CONCLUSIONS: Parents do not comply well with a childhood cholesterol screening program that involves two blood tests and moderately intensive educational intervention. Compliance is an important component of cholesterol screening and intervention.

Deficient immune function of peripheral blood mononuclear cells from patients with Gardner syndrome.

Genetic susceptibility to certain cancers is recognized as a contributor to malignancy in man and experimental animals. Colorectal adenocarcinoma associated with Gardner syndrome is considered to be a hereditary form of cancer in which family members are at increased risk because they inherit an autosomal dominant gene for adenomas of the colorectum. The adenomas, if untreated, transform into adenocarcinoma. The purpose of the current study was to characterize immune function in patients with Gardner syndrome since reports exist of immune defects in patients with other forms of hereditary cancer. An analysis of the ability of lymphocytes from the patients to be stimulated by the T cell mitogens, phytohaemmaglutinin and concanavalin A, revealed severely depressed responses by peripheral blood mononuclear cells (PBMC) from all of the patients studied. A depressed response by patient PBMC to the B cell mitogen, pokeweed mitogen, also was observed but the extent of depression was not statistically significant. Natural killer (NK) cell activity of the patients was studied to determine if a possible genetic defect in this function is associated with Gardner syndrome. PBMC from half of the patients had marginally depressed NK cell function. An enumeration of patient cells revealed a significantly lower ratio of T4 (helper) to T8 (suppressor) T cells, but normal percentages of rosette forming, 7.2 (Ia) positive and Leu 11 positive (NK) cells.