Objective Despite advances in ocular and orbital imaging, instrumentation, materials, and surgical procedures, the management of open globe injuries continues to pose difficult management dilemmas. In this retrospective study, we identify clinical characteristics and outcome of a series of open globe injuries presenting to a major UK centre. Method Operating department records were reviewed to identify all patients who had undergone repair of an open globe injury from 1 January 1998 to 1 January 2003 at the Manchester Royal Eye Hospital. Case notes were examined to determine demographic data, mechanisms of injury, influence of alcohol/drugs, and location of injury. The Snellen visual acuity on presentation and initial clinical signs were recorded. Results In total, 115 cases of open globe injury were identified of which 107 cases notes were available for review. Injury to the eye with a sharp object accounted for 71/107 (66%) cases and blunt mechanisms for 30/107 (28%) cases. In six (6%) cases the cause of injury was unknown. The rate of secondary enucleation in our series of 107 open globe injuries was 13/107 (12%). Significant risk factors on presentation associated with eventual enucleation included relative afferent pupillary defect (Po0.001), absence of a red reflex (Po0.001), presence of a lid laceration (Po0.02), a blunt mechanism of injury (Po0.02), and an initial VA worse than 6/60 (P ¼ 0.03). Conclusion From this retrospective study, we have identified several factors that may aid the clinician in deciding on the prognostic value of primary repair. Blunt injuries associated with adnexal trauma, with poor initial visual acuity, the presence of an RAPD or retinal detachment, and the absence of a red reflex are associated with a significantly higher rate of subsequent enucleation.

MEDNIK syndrome (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma) is an autosomalrecessive disorder caused by bi-allelic mutations in AP1S1, encoding the small s subunit of the AP-1 complex. Central to the pathogenesis of MEDNIK syndrome is abnormal AP-1-mediated trafficking of copper transporters; this abnormal trafficking results in a hybrid phenotype combining the copper-deficiency-related characteristics of Menkes disease and the copper-toxicity-related characteristics of Wilson disease. We describe three individuals from two unrelated families in whom a MEDNIK-like phenotype segregates with two homozygous null variants in AP1B1, encoding the large b subunit of the AP-1 complex. Similar to individuals with MEDNIK syndrome, the affected individuals we report display abnormal copper metabolism, evidenced by low plasma copper and ceruloplasmin, but lack evidence of copper toxicity in the liver. Functional characterization of fibroblasts derived from affected individuals closely resembles the abnormal ATP7A trafficking described in MEDNIK syndrome both at baseline and in response to copper treatment. Taken together, our results expand the list of inborn errors of copper metabolism.

BackgroundCOVID-19 has impacted on healthcare provision. Anecdotally, investigations for children with inflammatory bowel disease (IBD) have been restricted, resulting in diagnosis with no histological confirmation and potential secondary morbidity. In this study, we detail practice across the UK to assess impact on services and document the impact of the pandemic.MethodsFor the month of April 2020, 20 tertiary paediatric IBD centres were invited to contribute data detailing: (1) diagnosis/management of suspected new patients with IBD; (2) facilities available; (3) ongoing management of IBD; and (4) direct impact of COVID-19 on patients with IBD.ResultsAll centres contributed. Two centres retained routine endoscopy, with three unable to perform even urgent IBD endoscopy. 122 patients were diagnosed with IBD, and 53.3% (n=65) were presumed diagnoses and had not undergone endoscopy with histological confirmation. The most common induction was exclusive enteral nutrition (44.6%). No patients with a presumed rather than confirmed diagnosis were started on anti-tumour necrosis factor (TNF) therapy.Most IBD follow-up appointments were able to occur using phone/webcam or face to face. No biologics/immunomodulators were stopped. All centres were able to continue IBD surgery if required, with 14 procedures occurring across seven centres.ConclusionsDiagnostic IBD practice has been hugely impacted by COVID-19, with >50% of new diagnoses not having endoscopy. To date, therapy and review of known paediatric patients with IBD has continued. Planning and resourcing for recovery is crucial to minimise continued secondary morbidity.

Background: functional gastrointestinal disorders (FGID) are common conditions in children and adults, often associated with abnormalities of whole gut transit. Currently, transit tests can be performed using several imaging methods, including tracking of radiopaque markers, gamma scintigraphy with the use of radioisotopes, magnetic tracking methods, tracking of movement of wireless motility capsules, and emerging magnetic resonance imaging (MRI) approaches. Objectives: to review recent literature on diagnostic imaging techniques used to investigate whole gut transit in FGIDs. Methods: a systematic review was carried out. The different techniques are described briefly, with particular emphasis on contemporary literature and new developments, particularly in the field of MRI. Conclusions: emerging MRI capsule marker methods are promising new tools to study whole gut transit in FGIDs.Small intestinal bacterial overgrowth (SIBO) is another common disorder of the gastrointestinal tract. It reflects excess presence of bacteria in the small bowel, and recent studies suggest SIBO can be associated with altered gut transit [6].Constipation can be caused by slow transit of chyme within the colon. Different factors can contribute to this, including diet, lifestyle and medications [7]. Constipation can also signal the presence of other underlying disorders such as diabetes, coeliac disease and cancer [8].A recent review estimated the average prevalence of constipation at 16% worldwide [9]. In the United States, the number of hospital emergency visits linked to constipation increased by 41.5% between 2006 and 2011 [10]. Constipation is thought to be twice as common in women than in men [9]. Women at the postpartum stage (several weeks after pregnancy) are often affected by the condition, with up to 25% of women reporting the incidence of constipation [11]. Constipation rates tend to be substantially higher in the elderly population and reach up to 50-75%.Most cases of constipation are caused by one of three general mechanisms: disordered and obstructed defecation caused primarily by impaired rectal evacuation, irritable bowel syndrome with constipation, and slow transit constipation [12]. These mechanisms differ substantially, even though the general symptoms of constipation appear very similar. Proper treatment in each case calls for a patient-specific differential diagnosis. This diagnosis remains challenging and about half of all patients who complain of constipation remain unsatisfied with the treatment they receive [12].Slow transit constipation, a reduced intestine motility caused by abnormalities of the enteric nerves, accounts for 15-30% of all constipated patients, with up to 37% of constipated women affected [13].Functional constipation in childhood is very common. Its prevalence has been estimated to be 14%, forming approximately 3% of all hospital paediatric referrals [14][15][16][17][18]. In the majority of paediatric cases, constipation is not linked to specific clinical disorders but rather caused by changes i...