Neurofibroma of the bile duct: a rare cause of obstructive jaundice

Neurofibromas of the common bile duct are extremely rare. The lack of specific clinical or radiological features makes preoperative diagnosis in the absence of histology difficult. We report the case of a female patient who presented with obstructive jaundice and evidence of a common bile duct stricture on imaging. She underwent an exploratory laparotomy, and intraoperative frozen section confirmed clear margins and a benign lesion. Excision of the extrahepatic bile duct and A Roux-en-Y hepaticojejunostomy was performed. We discuss the clinical features and management of neurofibromas of the bile duct in light of the literature.     

Central nervous system tuberculosis presenting as branch retinal vein occlusion

Branch retinal vein occlusion (BRVO) associated with ocular tuberculosis (TB) is a rare presentation of retinal vasculitis but it can also present in the absence of active uveitis. We present a 39‐year‐old patient with BRVO who slowly developed bilateral papilloedema due to TB in the central nervous system. To our knowledge, this is the first case of systemic central nervous system TB confirmed by biopsy presenting as a branch retinal vein occlusion and shows the importance of extensive causative investigation of BRVO, especially for young patients.     

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. The Sanfilippo syndrome type C [mucopolysaccharidosis IIIC (MPS IIIC)] is caused by mutations in the HGSNAT gene, encoding an enzyme involved in heparan sulphate degradation. We report the first molecular study on several Spanish Sanfilippo syndrome type C patients. Seven Spanish patients, one Argentinean and three Moroccan patients were analysed. All mutant alleles were identified and comprised nine distinct mutant alleles, seven of which were novel, including four missense mutations (p.A54V, p.L113P, p.G424V and p.L445P) and three splicing mutations due to two point mutations (c.633+1G>A and c.1378‐1G>A) and an intronic deletion (c.821‐31_821‐13del). Furthermore, we found a new single nucleotide polymorphism (SNP) (c.564‐98T>C). The two most frequent changes were the previously described c.372‐2A>G and c.234+1G>A mutations. All five splicing mutations were experimentally confirmed by studies at the RNA level, and a minigene experiment was carried out in one case for which no fibroblasts were available. Expression assays allowed us to show the pathogenic effect of the four novel missense mutations and to confirm that the already known c.710C>A (p.P237Q) is a non‐pathogenic SNP. Haplotype analyses suggested that the two mutations (c.234+1G>A and c.372‐2A>G) that were present in more than one patient have a common origin, including one (c.234+1G>A) that was found in Spanish and Moroccan patients.     

Graduates of different UK medical schools show substantial differences in performance on MRCP(UK) Part 1, Part 2 and PACES examinations

Background  

The UK General Medical Council has emphasized the lack of evidence on whether graduates from different UK medical schools perform differently in their clinical careers. Here we assess the performance of UK graduates who have taken MRCP(UK) Part 1 and Part 2, which are multiple-choice assessments, and PACES, an assessment using real and simulated patients of clinical examination skills and communication skills, and we explore the reasons for the differences between medical schools.     

Exploring if day and time of admission is associated with average length of stay among inpatients from a tertiary hospital in Singapore: an analytic study based on routine admission data

Background  

It has been postulated that patients admitted on weekends or after office hours may experience delays in clinical management and consequently have longer length of stay (LOS). We investigated if day and time of admission is associated with LOS in Tan Tock Seng Hospital (TTSH), a 1,400 bed acute care tertiary hospital serving the central and northern regions of Singapore.     

Different pattern of codon recognition by mammalian mitochondrial tRNAs.

Analysis of an almost complete mammalian mitochondrial DNA sequence has identified 23 possible tRNA genes and we speculate here that these are sufficient to translate all the codons of the mitochondrial genetic code. This number is much smaller than the minimum of 31 required by the wobble hypothesis. For each of the eight genetic code boxes with four codons for one amino acid we find a single specific tRNA gene with T in the first (wobble) position of the anticodon. We suggest that these tRNAs with U in the wobble position can recognize all four codons in these genetic code boxes either by a "two out of three" base interaction or by U.N wobble.     

Selective non-operative management of penetrating liver injuries at a UK tertiary referral centre

Introduction

Selective non-operative management (SNOM) of penetrating abdominal injuries has increasingly been applied in North America in the last decade. However, there is less acceptance of SNOM among UK surgeons and there are limited data on UK practice. We aimed to review our management of penetrating liver injuries and, specifically, the application of SNOM.

Methods

A retrospective review was performed of patients presenting with penetrating liver injuries between June 2005 and November 2013.

Results

Thirty-one patients sustained liver injuries due to penetrating trauma. The vast majority (97%) were due to stab wounds. The median injury severity score was 14 and a quarter of patients had concomitant thoracic injuries. Twelve patients (39%) underwent immediate surgery owing to haemodynamic instability, evisceration, retained weapon or diffuse peritonism. Nineteen patients were stable to undergo computed tomography (CT), ten of whom were selected subsequently for SNOM. SNOM was successful in eight cases. Both patients who failed SNOM had arterial phase contrast extravasation evident on their initial CT. Angioembolisation was not employed in either case. All major complications and the only death occurred in the operatively managed group. No significant complications of SNOM were identified and there were no transfusions in the non-operated group. Those undergoing operative management had longer lengths of stay than those undergoing SNOM (median stay 6.5 vs 3.0 days, p<0.05).

Conclusions

SNOM is a safe strategy for patients with penetrating liver injuries in a UK setting. Patient selection is critical and CT is a vital triage tool. Arterial phase contrast extravasation may predict failure of SNOM and adjunctive angioembolisation should be considered for this group.