What Do Saudi Children Ingest?: A 10-Year Retrospective Analysis of Ingested Foreign Bodies From a Tertiary Care Center.

OBJECTIVES: Few studies investigated the correlation between foreign body (FB) ingestion and occurrence of complications. The local literature is limited to case reports and small case series on esophageal FBs. We conducted this study to identify the high-risk factors predisposing to complications among Saudi children ingesting FBs. METHODS: The medical records of 436 children (boys, 59.6%; mean age, 4.4 ± 2.7 years) presenting to the emergency department (ED) between 2007 and 2016 were retrospectively reviewed. Relative risk analysis of clinical variables was performed between 2 groups: The first group constituted children without FB-related complications (n = 389), and the second group included those with major complications (n = 14). Major complication was defined as any event associated with significant morbidity such as esophageal stricture, esophageal perforation, esophageal fistula, and intestinal perforation or fistula formation. RESULTS: Most of the 436 cases presented between ages 2 and 4 years (35.1%). Coin was the most commonly ingested FB (22.9%) followed by button battery (19.5%). Most of the ingested FBs passed spontaneously without intervention (69%). Upper endoscopy was performed in 121 cases (27.7%). By multivariate analysis, the variables that were significantly associated with major complications included the following: very young age group (0-2 years; odds ratio [OR], 11.5), button battery (OR, 4), FB impacted at upper esophagus (OR, 8.7), and longer time duration to visit the ED (OR, 14.7). CONCLUSION: Button battery impaction at upper esophagus in very young children and delayed presentation to the ED were the most significant risk factors of FB-related complications.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients' primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.