Leaking mycotic abdominal aortic aneurysm

A case of leaking mycotic abdominal aortic aneurysm is reported, with a brief review of the literature. A 58 year old female presented with shoulder and abdominal pain associated with diarrhoea, vomiting and fever with leucocytosis. Computed tomography of the abdomen showed pooling of contrast in the retroperitoneum anterior to a non-dilated abdominal aorta. There was considerable retroperitoneal blood accumulating in a mass-like lesion in the right lower abdomen and pelvis obstructing the right renal collecting system. Laparotomy revealed a 4 cm diameter saccular aneurysm of the abdominal aorta, with a 1 cm diameter neck. Culture of the thrombus grew Streptococcus pyogenes.     

Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis

The mouse X-linked mutants lined and stripey are associated with lethality of affected males in utero and a striping of the coat in carrier females. We demonstrate that the underlying mutations are nested deletions which lie in the Phex-Amelx chromosomal segment conserved between man and mouse. The lined deletion contains less than approximately 0.7 cM of genetic material and includes the growth factor- regulated protein kinase gene, Rsk2. Stripey carries a larger deletion which removes approximately 2.0 cM of genetic material, including Rsk2 and the pyruvate dehydrogenase E1alpha subunit gene, Pdha1 . Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders.      

Gender influences handwashing rates in the critical care unit

BACKGROUND: Nurses tend to wash their hands more often than physicians, and among nonhealth care workers, women tend to wash their hands more often than men. This study examined the influence of gender on the handwashing rates of health care workers (HCWs). The null hypotheses were that there would be no intergender difference in (a) handwashing rates in HCWs across professions and (b) within professional groups. METHODS: Handwashing by nurses, physicians, wardspersons, x-ray technicians, and physiotherapists after patient contact in a critical care unit (CCU) was determined through covert observation. The gender and profession of the subjects were recorded, but their identity was not. RESULTS: Female CCU staff washed their hands significantly more often than did their male counterparts after patient contact (P =.0001). When the results were examined for the influence of profession on handwashing, significant intergender differences remained for physicians (P =.0468) and wardspersons (P =.0001). There was also a nonsignificant trend (P =.07) toward higher rates of handwashing among female x-ray technicians. There were no statistically significant intergender differences in handwashing rates among nurses (P =.7588) and physiotherapists. CONCLUSIONS: It appears that gender may influence handwashing rates in HCWs in the CCU, although this difference appears to be modified in particular professional groups. Further research should examine factors that modify handwashing rates within professional groups and in settings other than the CCU.     

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.     

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.