Large bowel obstruction and perforation secondary to endometriosis complicated by a ventriculoperitoneal shunt.

A 36-year-old lady, with a past medical history of hydrocephalus requiring a ventriculoperitoneal (VP) shunt, was admitted with symptoms and signs of large bowel obstruction. Her condition worsened and she underwent laparotomy, where she had faecal peritonitis secondary to a perforated sigmoid colon. The shunt was contaminated with faeces leading to postoperative shunt infection and meningitis. Histology of the resected sigmoid colon revealed endometriosis at the site of perforation. Endometriosis is a rare cause of large bowel obstruction and literature review has found only two other cases of perforation because of endometriosis not associated with pregnancy. No case has been reported involving the concurrent surgical management of a contaminated VP shunt. We discuss the rarity of large bowel perforation and obstruction because of endometriosis, and the complications and management of VP shunts.

Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatellite instability status and country of origin.

BACKGROUND: K-ras mutations are a key step in colorectal cancer progression. Such mutations have been widely studied in case series from Western countries but there are few data on the rate and spectrum of mutations in tumors from countries where the epidemiological features of the disease are different. PATIENTS AND METHODS: Tumor samples from 182 Iranian colorectal cancer patients (170 sporadic cases and 12 HNPCC cases) were screened for K-ras mutations at codons 12, 13 and 61 by sequencing analysis. The cases were also characterized for microsatellite instability at mononucleotide repeats by PCR and fragment analysis, and classified according to microsatellite instability status. The frequency and the spectrum of K-ras mutations were compared with those observed in a series of colorectal cancer patients from Italy. RESULTS: K-ras mutations were observed in 68/182 (37.4%) cases. Mutation frequencies were similar in HNPCC-associated, sporadic MSI-H and sporadic microsatellite-stable (MSS) tumors. However, the G13D substitution was more frequent in HNPCC (3/4, 75%) and sporadic MSI-H (7/11, 63.6%) tumors compared to sporadic MSS tumors (11/53, 20.4%) (P <0.01). Comparison of mutations in the two series from Iran and Italy showed a significantly higher frequency of G13D among Italian patients. CONCLUSIONS: While the frequency of K-ras mutations could be similar, the mutational spectrum could be differentially influenced by genetic and environmental factors.

Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia.

A single homozygous nucleotide exchange in exon E3 of the gene encoding the parathyroid hormone receptor type 1 (PTHR1) was identified in an infant with Blomstrand chondrodysplasia born to consanguineous parents. This alteration changes a strictly conserved proline residue at position 132 in the receptor's amino terminal extracellular domain to leucine. COS-1 cells expressing the mutant receptor did not accumulate cyclic adenosine 3',5'-monophosphate in response to PTH or PTH-related peptide (PTHrP) and did not bind the radiolabeled ligand. Expression of the mutant protein on the cell surface of transiently transfected COS-1 cells and in growth plate chondrocytes derived from the affected infant suggests that proline 132 is critical for the receptor's intrinsic binding activity. These findings suggest that the Blomstrand form of human short-limbed dwarfism arises from defective PTHR1 signaling in the developing cartilaginous skeleton.

Ampullary somatostatinoma associated with von Recklinghausen's neurofibromatosis presenting as obstructive jaundice.

A case of von Recklinghausen's disease associated with a somatostatinoma of the pancreas causing obstructive jaundice is described. Discussion on the association of von Recklinghausen's disease with somatostatinoma is presented.

Tonsillar haemorrhage and measles.

A seven-year-old girl presented with life-threatening pharyngeal haemorrhage. This was subsequently found to arise from one tonsil, and a tonsillectomy eventually halted the bleeding. Two days later she developed measles, confirmed by serology and characteristic histology. Spontaneous tonsillar haemorrhage is extremely rare, and not previously reported in measles.

Middle ear neoplasms showing adenomatous and neuroendocrine components.

Middle ear adenomas are rare epithelial tumours. Reports indicate that neuroendocrine (carcinoid) tumours may also occur at this site, often in association with an adenomatous component. The clinico-pathological findings (including C.T. scan appearances) of such a 'mixed' neoplasm are presented together with a brief review of the few previously described cases. The importance of immuno-histochemistry and electron microscopy for accurate pathological diagnosis of these neoplasms is confirmed.

Colorectal surgeons and biomedical scientists improve lymph node harvest in colorectal cancer.

BACKGROUND: The aim of this study was to review lymph node retrieval from colorectal cancer resections. METHODS: We examined consecutive, single colorectal cancers excised between September 1999 and February 2007. Data gathered included patient age and gender, cancer location, total number of lymph nodes and involved lymph nodes identified. The speciality of the operating surgeon was recorded. Whether a pathologist or biomedical scientist was responsible for harvesting lymph nodes from the resected specimen was also noted. RESULTS: A total of 1,194 patients were identified. Increased numbers of lymph nodes identified was associated with increased lymph node positivity (p<0.001, r=0.121). Biomedical scientists identified more lymph nodes (median 15, range 12-20) within specimens than consultant pathologists (median 10, range 7-13; p<0.001). Colorectal surgeons removed more lymph nodes (median 11, range 7-15) than non-colorectal surgeons (median 9, range 7-14; p=0.002). CONCLUSIONS: There was a significant increase in lymph node harvesting over time and this correlated with lymph node positivity. Lymph node harvest was significantly higher when the resection was performed by a colorectal surgeon and when the specimen was examined by a biomedical scientist. For accurate staging and consequent correct planning of adjuvant treatment and prognosis, resections should be performed by a colorectal surgeon and the lymph nodes harvested by a biomedical scientist.

The arterial blood supply of human inguinal and mesenteric lymph nodes.

Injection of the arterial tree supplying human inguinal (superficial) and mesenteric (deep) lymph nodes was performed using a barium sulphate suspension. Radiography and histological examination showed two distinct types of arterial supply to lymph nodes. The superficial inguinal nodes are generally supplied by a single artery which penetrates the hilum and then radiates outwards to the lymph node pulp. The deep mesenteric lymph nodes, in contrast, are invariably supplied by several separate arteries which penetrate the nodal capsule, enter the trabeculae and run centripetally. These differences reflect the microanatomical differences in structure between deep and superficial lymph nodes. The two types of blood supply may be responsible for the different patterns of ischaemia found in deep and superficial lymph nodes. The findings re-emphasise the heterogeneous character of lymph nodes in man.

Cecocolic intussusception in multiple lymphomatous polyposis of the gastrointestinal tract. Report of a case.

A rare case of recurrent cecocolic intussusception in an adult patient with multiple lymphomatous polyposis of the gastrointestinal tract is presented. Clinical features, especially the difficulty in distinguishing this entity from adenomatous polyposis on colonoscopy, and histopathology are discussed. It is important that surgeons and colonoscopists be aware of this rare form of diffuse gastrointestinal lymphoma because of therapeutic implications.

IgA antibodies to human tissue transglutaminase: audit of routine practice confirms high diagnostic accuracy.

BACKGROUND: The diagnostic accuracy of IgA tissue transglutaminase antibodies (TGA) for coeliac disease (CD) has been assessed following the introduction of the test into routine practice in 2002. METHODS: Specificity was assessed in serum samples received from 1554 adults for routine coeliac serology. The population for assessing sensitivity was 75 consecutive new adult diagnoses of CD. TGA was measured by enzyme-linked immunoassay using human tissue transglutaminase as antigen. Concordance between TGA and endomysial antibody (EMA) was also assessed. RESULTS: The prevalence of new diagnoses of CD in the population tested was 2.8% with similar proportions of new diagnoses in males and females. The positive predictive values at a cut-off of 3 units/mL were 0.77 for samples from Primary Care and 0.92 for samples from Hospital sources, with a sensitivity of 92%. At TGA <3 units/mL, EMA was usually negative; when TGA was >4.9 units/mL, EMA was rarely negative. CONCLUSIONS: We have assessed the role of TGA in routine clinical practice and confirmed high diagnostic accuracy. Sensitivity (92%) is identical to the sensitivity for EMA. IgA deficiency should be excluded in samples showing low absorbance readings in the TGA assay and interference from monoclonal and polyclonal IgA should be excluded in samples with slightly raised TGA levels and negative EMA. TGA is recommended as the first-line serological test for coeliac disease.