HLA Haplotypes In 250 Families: The Baylor Laboratory Results And A Perspective On A Core NGS Testing Model For The 17th International HLA And Immunogenetics Workshop.

Since their inception, the International HLA & Immunogenetics Workshops (IHIW) served as a collaborative platform for exchange of specimens, reference materials, experiences and best practices. In this report we present a subset of the results of human leukocyte antigen (HLA) haplotypes in families tested by next generation sequencing (NGS) under the 17th IHIW. We characterized 961 haplotypes in 921 subjects belonging to 250 families from 8 countries (Argentina, Austria, Egypt, Jamaica, Germany, Greece, Kuwait, and Switzerland). These samples were tested in a single core laboratory in a high throughput fashion using 6 different reagents/software platforms. Families tested included patients evaluated clinically as transplant recipients (kidney and hematopoietic cell transplant) and their respective family members. We identified 486 HLA alleles at the following loci HLA-A, -B, -C, -DRB1, -DRB3, -DRB4, -DRB5, -DQA1, -DQB1, -DPA1, -DPB1 (77, 115, 68, 69, 10, 6, 4, 44, 31, 20 and 42 alleles, respectively). We also identified nine novel alleles with polymorphisms in coding regions. This approach of testing samples from multiple laboratories across the world in different stages of technology implementation in a single core laboratory may be useful for future international workshops. Although data presented may not be reflective of allele and haplotype frequencies in the countries to which the families belong, they represent an extensive collection of 3rd and 4th field resolution level 11-locus haplotype associations of 486 alleles identified in families from 8 countries.

Unexpected Findings in Magnetic Resonance Enterography and Their Clinical Significance.

Aims. To identify the prevalence of colonic and extraenteric incidental findings in magnetic resonance enterography (MRE) and their clinical significance. Methods. We retrospectively analysed 470 MRE studies carried out between March 2012 and 2014. Incidental findings were defined as those not expected from or made apparent on the referral. MRE reports were reviewed for colonic and extraenteric findings, subcategorised into "clinically significant" and "insignificant." Follow-up was identified from the electronic patient record. Results. The majority of MRE requests were made for inflammatory bowel disease (97%). In total, 114 incidental findings were noted in 94 (20%) scans performed. There were 29 "colonic" findings (25%) with 55% having a diagnosis of colitis. Out of 85 extraenteric findings, ovarian cysts (25%), renal cysts (10%), and abdominal lymphadenopathy (9%) were the commonest. Cumulatively, 59 cases were clinically significant (52%); of these, 30 findings were not previously diagnosed, amounting to 26% of all incidental findings. This led to intervention in seven patients. Conclusions. Incidental findings are common in MRE and there is a substantial proportion that is clinically significant and requires further investigation. There need to be stratification of risk and employment of local guidelines in order to achieve this.

How to diagnose and manage hepatic encephalopathy: a consensus statement on roles and responsibilities beyond the liver specialist.

INTRODUCTION: Hepatic encephalopathy is defined as brain dysfunction caused by liver insufficiency and/or portosystemic shunting. Symptoms include nonspecific cognitive impairment, personality changes and changes in consciousness. Overt (symptomatic) hepatic encephalopathy is a common complication of cirrhosis that is associated with a poor prognosis. Patients with hepatic encephalopathy may present to healthcare providers who do not have primary responsibility for management of patients with cirrhosis. Therefore, we developed a series of 'consensus points' to provide some guidance on management. METHODS: Using a modified 'Delphi' process, consensus statements were developed that summarize our recommendations for the diagnosis and management of patients with hepatic encephalopathy. Points on which full consensus could not be reached are also discussed. RESULTS: Our recommendations emphasize the role of all healthcare providers in the identification of cognitive impairment in patients with cirrhosis and provide guidance on steps that might be considered to make a diagnosis of overt hepatic encephalopathy. In addition, treatment recommendations are summarized. Minimal hepatic encephalopathy can have a significant impact on patients; however, in most circumstances identification and management of minimal hepatic encephalopathy remains the responsibility of specialists in liver diseases. CONCLUSION: Our opinion statements aim to define the roles and responsibilities of all healthcare providers who at times care for patients with cirrhosis and hepatic encephalopathy. We suggest that these recommendations be considered further by colleagues in other disciplines and hope that future guidelines consider the management of patients with cirrhosis and with a 'suspicion' of cognitive impairment through to a formal diagnosis of hepatic encephalopathy.

Magnetic resonance enterography: a pictorial review of Crohn's disease.

Use of magnetic resonance enterography has significantly increased and its role as an adjunct to ileocolonoscopy is best practice, particularly in the evaluation of Crohn's disease. This article reviews magnetic resonance enterography, and describes common findings related to Crohn's disease and unexpected extra-intestinal findings.

Does intravenous glucagon improve common bile duct visualisation during magnetic resonance cholangiopancreatography? Results in 42 patients.

INTRODUCTION: Magnetic resonance cholangiopancreatography (MRCP) has been demonstrated as a reliable, non-invasive means of biliary tract imaging among patients with suspected choledocholithiasis. The aim of this study was to establish the impact of intravenous glucagon administration (IVGA) upon visualisation of the common bile duct (CBD) and ampulla of Vater during MRCP. MATERIALS AND METHODS: Forty-two consecutive, non-diabetic subjects with a working diagnosis of symptomatic choledocholithiasis were scanned, pre- and post-IVGA using the half-Fourier, single shot, turbo-spin-echo (HASTE) sequence. Maximum intensity projections (optimised for the extra-hepatic biliary tree and ampulla of Vater) were reviewed blindly by three consultant radiologists. The CBD images were graded (0-3) according to the length of duct seen. The ampullary images were graded according to whether to it was visualised clearly (1), or not (0). RESULTS: Following IVGA the CBD was visualised at grade 3 (75-100% of length seen) in 14 additional patients compared with images prior to IVGA. Furthermore, ampullary visualisation was considered diagnostic in 18 additional patients post-IVGA. No glucagon-associated adverse effects were observed. CONCLUSION: These results demonstrate that IVGA improved visualisation of the CBD and ampulla of Vater during magnetic resonance cholangiopanctreatography. This may reduce the requirement for repeat investigation or recourse to invasive diagnostic procedures (e.g. endoscopic retrograde cholangiopancreatography (ERCP)).