Assessment of dietary interventions including low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols diet as management for fructose intolerance.

OBJECTIVES: Abdominal pain remains one of the most common referral reasons to pediatric gastroenterology. Dietary intolerances are often considered but due to various factors are hardly pursued. We observed that diet review in large number of children with abdominal pain was high in sugary foods which led to food intolerance investigation and dietary intervention. METHODS: A retrospective review was conducted of patients presenting with abdominal pain, diarrhea, or vomiting and negative GI evaluation, who underwent fructose breath testing. Patients younger than 20 years old who were seen between June 1, 2018 and March 1, 2021 were included. Statistical analysis was performed in R. RESULTS: There were 110 pediatric patients during the study period who underwent fructose breath testing, with 31% male and 69% female. The average age was 12.14 ± 4.01 years, and the average BMI was 21.21 ± 6.12. Abdominal pain was the most common presenting symptom (74.5%) followed by diarrhea and vomiting. Seventy-seven patients (70%) had a positive fructose breath test and were diagnosed with dietary intolerance to fructose. The 56 (67.5%) of those patients experienced symptoms during the breath test. Forty-three patients improved with dietary intervention. Twenty-seven on low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols diet and 16 on other diets. CONCLUSIONS: Based on analysis of our cohort of children with abdominal pain and high incidence of fructose intolerance as well as improvement in symptoms, following dietary changes, this condition should be considered and treated. Further investigation is needed to improve diagnostic testing but also into understanding mechanisms behind symptom presentation in this population.

A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome.

BACKGROUND: Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder that increases risk of hematological malignancy. Primary gastric malignancies are exceedingly rare in pediatric patients and not typically high on the differential of abdominal pain. CASE PRESENTATION: A 14-year-old male with NBS presented with persistent abdominal pain and was diagnosed with primary Hodgkin disease of the stomach. CONCLUSIONS: In pediatric patients with predisposition to malignancies, such as those with underlying chromosome instability disorders, all symptoms must be carefully considered.

Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes.

Mutations in mitochondrial DNA can be inherited or occur de novo leading to several debilitating myopathies with no curative option and few or no effective treatments. Allotopic expression of recoded mitochondrial genes from the nucleus has potential as a gene therapy strategy for such conditions, however progress in this field has been hampered by technical challenges. Here we employed codon optimization as a tool to re-engineer the protein-coding genes of the human mitochondrial genome for robust, efficient expression from the nucleus. All 13 codon-optimized constructs exhibited substantially higher protein expression than minimally-recoded genes when expressed transiently, and steady-state mRNA levels for optimized gene constructs were 5-180 fold enriched over recoded versions in stably-selected wildtype cells. Eight of thirteen mitochondria-encoded oxidative phosphorylation (OxPhos) proteins maintained protein expression following stable selection, with mitochondrial localization of expression products. We also assessed the utility of this strategy in rescuing mitochondrial disease cell models and found the rescue capacity of allotopic expression constructs to be gene specific. Allotopic expression of codon optimized ATP8 in disease models could restore protein levels and respiratory function, however, rescue of the pathogenic phenotype for another gene, ND1 was only partially successful. These results imply that though codon-optimization alone is not sufficient for functional allotopic expression of most mitochondrial genes, it is an essential consideration in their design.