Mortality and short-term morbidity in infants with exomphalos.

BACKGROUND: Infants with exomphalos major have a high mortality and morbidity. The aims of this study were to identify predictors of survival regardless of the size of the exomphalos, and to analyze morbidity in infants with exomphalos minor. METHODS: Patients were classified as having exomphalos major or minor based on whether the liver was in the exomphalos sac, and the size of the abdominal wall defect. The respiratory, gastrointestinal and surgical outcomes of 50 infants with exomphalos (including 27 with exomphalos major) were assessed. Receiver operating characteristic (ROC) curves were constructed to identify factors predictive of survival. RESULTS: No infant with exomphalos minor died; there were seven deaths in the exomphalos major group (P < 0.001). Infants with exomphalos minor who had chromosomal abnormalities (six had a genetic diagnosis of Beckwith-Wiedemann syndrome) developed severe respiratory distress or chronic respiratory morbidity. Nasogastric feeding at discharge was required in 37% of infants with exomphalos major and in 17% with exomphalos minor. Lower gestational age (area under the ROC curve [AUROC], 0.814) and birthweight (AUROC, 0.797), and longer duration of ventilation (AUROC, 0.853) and of supplementary oxygen (AUROC, 0.810) were predictive of mortality. CONCLUSIONS: Infants with exomphalos regardless of size can have chronic morbidity. Mortality is commonest in those with exomphalos major born at lower gestational age and birthweight.

Systemic Mastocytosis: State of the Art.

PURPOSE OF REVIEW: Since identification of Systemic mastocytosis (SM) as a distinct disease entity by the World Health Organisation (WHO), there has been a wealth of new research in therapeutic targeting of the pathogenic C-KIT D816V mutation. RECENT FINDINGS: Avapritinib, the first licensed drug in SM capable of disease modification alongside the increasingly potent, oral and highly selective KIT tyrosine kinase inhibitors (TKIs) Bezuclastinib and now Elenestinib have enabled the prospect of long-term remissions. Studies have shown improved survival and symptomatic control in patients with SM. Of great triumph, this has been achieved in an outpatient setting with apparent tolerable and minimal toxicity. The importance of molecular profiling is being demonstrated in administering combination therapies for SM with an associated haematological neoplasm (AHN), allowing more personalised and streamlined treatment regimes. This review focuses on current management strategies of SM, focusing on state-of-the-art directed therapies, the evidence behind their use with presentation of two clinical cases to highlight key messages.