Routine Elective Gastrojejunostomy Tube Changes Are Associated With Reduced Tube Complications and Radiation Exposure.

Gastrojejunostomy tubes (GJTs) can be a long-term solution for patients with intragastric feeding intolerance. Our retrospective study of 101 patients correlates the frequency of routine and urgent GJT changes, as well as complications and radiation exposure. Over a 2.75-year median duration, 60%, 33%, and 28% of patients had >1 episodes of a tube dislodgement/malpositioning, blockage, or leakage, respectively. Aspiration pneumonia hospital admission was required for 23% of patients. Patients with <1 routine tube change/year had more urgent changes/year (3.0) compared to patients with 1-2 (1.2) or >2 (0.8) routine yearly change. These patients required more frequent sedation for tube placement (21% vs 4.7%, P = 0.03) and experienced greater annual radiation exposure (9599 vs 304.5 and 69.1 µGym 2 , P = 0.01 and 0.008, respectively). Overall, aiming for a routine tube change at least every 6-12 months is associated with fewer urgent changes and complications as well as reduced radiation exposure and sedation requirements.

Scoping review of symptoms in children with rare, progressive, life-threatening disorders.

BACKGROUND: Q3 conditions are progressive, metabolic, neurological or chromosomal childhood conditions without a cure. Children with these conditions face an unknown lifespan as well as unstable and uncomfortable symptoms. Clinicians and other healthcare professionals are challenged by a lack of evidence for symptom management for these conditions. AIMS: In this scoping review, we systematically identified and mapped the existing literature on symptom management for children with Q3 conditions. We focused on the most common and distressing symptoms, namely alertness, behavioural problems, bowel incontinence, breathing difficulties, constipation, feeding difficulties, sleep disturbance, temperature regulation, tone and motor problems and urinary incontinence. For children with complex health conditions, good symptom management is pertinent to ensure the highest possible quality of life. METHODS: Scoping review. Electronic database searches in Ovid MEDLINE, Embase and CINAHL and a comprehensive grey literature search. RESULTS: We included 292 studies in our final synthesis. The most commonly reported conditions in the studies were Rett syndrome (n=69), followed by Cornelia de Lange syndrome (n=25) and tuberous sclerosis (n=16). Tone and motor problems were the most commonly investigated symptom (n=141), followed by behavioural problems (n=82) and sleep disturbance (n=62). CONCLUSION: The evidence for symptom management in Q3 conditions is concentrated around a few conditions, and these studies may not be applicable to other conditions. The evidence is dispersed in the literature and difficult to access, which further challenges healthcare providers. More research needs to be done in these conditions to provide high-quality evidence for the care of these children.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

We identified biallelic mutations in NANS, the gene encoding the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. Patient body fluids showed an elevation in N-acetyl-D-mannosamine levels, and patient-derived fibroblasts had reduced NANS activity and were unable to incorporate sialic acid precursors into sialylated glycoproteins. Knockdown of nansa in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype. Thus, NANS-mediated synthesis of sialic acid is required for early brain development and skeletal growth. Normal sialylation of plasma proteins was observed in spite of NANS deficiency. Exploration of endogenous synthesis, nutritional absorption, and rescue pathways for sialic acid in different tissues and developmental phases is warranted to design therapeutic strategies to counteract NANS deficiency and to shed light on sialic acid metabolism and its implications for human nutrition.