Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Phosphomannomutase 2 (PMM2) deficiency causes Congenital Disorder of Glycosylation (PMM2-CDG), but does not have a recognised association with Inflammatory Bowel Disease (IBD). A distinct clinical syndrome of hyperinsulinism and autosomal recessive polycystic kidney disease (HIPKD) arises in the context of a specific variant in the PMM2 promotor, either in homozygosity, or compound heterozygous with a deleterious PMM2 variant. Here, we describe the development of IBD in three patients with PMM2-HIPKD, with onset of IBD at 0, 6, and 10 years of age.

Safety and Efficacy of Split-Dose Thiopurine vs Low-Dose Thiopurine-Allopurinol Cotherapy in Pediatric Inflammatory Bowel Disease.

Introduction: Split-dose thiopurine and allopurinol-thiopurine cotherapy strategies have been suggested as rescue therapeutic options for children with inflammatory bowel disease (IBD) and impaired thiopurine metabolism. We compared the efficacy and safety of these regimens in patients who previously failed conventional thiopurine treatment.

Methods: Children with IBD treated with split-dose thiopurine or low-dose thiopurine-allopurinol cotherapy were retrospectively identified.

Abdominal US in Pediatric Inflammatory Multisystem Syndrome Associated with SARS-CoV-2 (PIMS-TS).

Background Children with pediatric inflammatory syndrome temporally associated with SARS-CoV-2 (PIMS-TS), also known as multisystem inflammatory syndrome in children, present with abdominal pain among other nonspecific symptoms. Although initial imaging features of PIMS-TS have been reported, the duration of sonographic features remains unknown. Purpose To describe the abdominal US features of PIMS-TS at initial presentation and follow-up.

SARS-CoV-2 and the Gastrointestinal Tract in Children.

Coronavirus disease 2019 (COVID-19), caused by acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is predominantly a respiratory disease. However, its significant impact on the gastrointestinal (GI) system is now well-known. SARS-CoV-2 enters cells the angiotensin-converting enzyme-2 (ACE-2) receptor, which is abundantly expressed on lung cells, but also on enterocytes.

Evaluation of a health service adopting proactive approach to reduce high risk of lung cancer: The Liverpool Healthy Lung Programme.

Objectives: This Liverpool Healthy Lung Programme is a response to high rates of lung cancer and respiratory diseases locally and aims to diagnose lung cancer at an earlier stage by proactive approach to those at high risk of lung cancer. The objective of this study is to evaluate the programme in terms of its likely effect on mortality from lung cancer and its delivery to deprived populations.

Methods: Persons aged 58-75 years, with a history of smoking or a diagnosis of chronic obstructive pulmonary disease (COPD) according to general practice records were invited for lung health check in a community health hub setting.

Pilot randomised controlled trial of focused narrative intervention for moderate to severe depression in palliative care patients: DISCERN trial.

Background: Depression is poorly detected and sub-optimally managed in palliative care patients, and few trials of psychosocial interventions have been carried out in this group of patients.

Aims: A pilot trial to determine the effect of a focused narrative intervention on depression in palliative care patients when used in addition to usual care.

Design: Patients scoring 10 or higher on Patient Health Questionnaire-9 randomised to focused narrative intervention in addition to usual care or usual care only and followed up at 2, 4 and 6 weeks.

Nutritional status and nutritional management in children with cancer.

Malnutrition is often seen at the point of diagnosis in childhood malignancy or may develop during the course of treatment. Strategies for optimal diagnosis and management of nutritional problems in children with cancer are limited in the published literature. Identification of children who may be malnourished or at nutritional risk can be achieved through improved approaches for risk stratification and classification.