Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.

Summary Background Crohn's disease (CD) is a predisposing factor for bone loss and muscle dysfunction, which could lead to osteoporotic fractures and physical disability, respectively. Aim To assess the effect of 6 months of combined impact and resistance training on bone mineral density (BMD) and muscle function in adults with CD. Methods In this randomised controlled trial, 47 adults with stable CD were assigned to exercise (n = 23) or control (n = 24) groups and followed up for 6 months. The exercise group received usual care plus a 6‐month combined impact and resistance training programme, involving three, 60‐minute sessions per week and a gradual tapering of supervision to self‐management. The control group received usual care alone. The primary outcomes were BMD (via dual energy X‐ray absorptiometry) and muscle function (measures of upper and lower limb strength and endurance) at 6 months. Results At 6 months, BMD values were superior in the exercise group with statistical significance at lumbar spine (adjusted mean difference 0.036 g/cm2, 95% CI 0.024‐0.048; P < 0.001), but not at femoral neck (0.018 g/cm2, 0.001‐0.035; P = 0.059) or greater trochanter (0.013 g/cm2, −0.019 to 0.045; P = 0.415) after correcting for multiple outcomes. The exercise group also had superior values for all muscle function outcomes (P < 0.001; unadjusted mean differences ranging 22.6‒48.2%), and lower fatigue severity (P = 0.005). Three exercise‐related adverse events were recorded: two instances of light‐headedness and one of nausea. Conclusions The intervention improved BMD and muscle function in adults with CD and appears as a suitable model of exercise for reducing future risk of osteoporotic fractures and disability. Trial registration: ISRCTN11470370.

The development of a high-output stoma (HOS) is associated with water, electrolyte and nutritional complications. Prompt, careful assessment and management is required to avoid rapid clinical deterioration in this patient population. A multidisciplinary approach to management ensures the best possible outcome and quality of life for patients who experience HOS. This article outlines the important considerations in the identification and pathophysiology of HOS. A systematic approach to the management of the condition is outlined, considering fluid and electrolyte requirements, nutrient deficiencies and manipulation of gastrointestinal absorption, motility and secretions using medical and surgical therapies.

Long-term follow-up supports the safety and feasibility of ASCT as a means of achieving short-term control of severe CD whilst potentially re-sensitizing the disease to medical therapy and reducing requirements for surgery and TPN. Given the inevitability of relapse, pre-emptive salvage and/or maintenance treatments post-ASCT should be the focus of future trials.

In this study, there was no difference between the pressures at which gastric and oesophageal varices bled. Rebleeding and mortality rates were similar in the two groups. TIPS is equally effective in the treatment of both oesophageal and gastric variceal haemorrhage.

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