Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati--a new syndrome?

We present a previously undescribed skeletal dysplasia with dental anomalies and ectopic neural tissue in the internal auditory meati.

Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort.

It has been proposed that rare variants within the double strand break repair genes CHEK2, BRIP1 and PALB2 predispose to breast cancer. The aim of this study was to evaluate the prevalence of these variants in an Irish breast cancer cohort and determine their contribution to the development of breast cancer in the west of Ireland. We evaluated the presence of CHEK2_1100delC variant in 903 breast cancer cases and 1,016 controls. Six previously described variants within BRIP1 and five within PALB2 were screened in 192 patients with early-onset or familial breast cancer. Where a variant was evident, it was then examined in the remainder of our 711 unselected breast cancer cases. CHEK2_1100delC was found in 5/903 (0.5%) breast cancer cases compared to 1/1016 (0.1%) controls. One mutation at BRIP1 (2392 C>T) was identified in the early-onset/familial cohort. Examination of this variant in the remainder of our cohort (711 cases) failed to identify any additional cases. None of the previously described PALB2 variants were demonstrated in the early-onset/familial cohort. We show evidence of CHEK2_1100delC and BRIP1 2392 C>T within the Irish population. CHEK2_1100delC and BRIP1 mutations incidence in Ireland is similar to that found in other unselected breast cancer cohorts from northern European countries. We found no evidence to suggest that PALB2 mutation is an important breast cancer predisposition gene in this population.

Concurrent diagnosis of Crohn's disease and colorectal carcinoma in a young man with abdominal pain.

The lead time between diagnosis of Crohn's disease and presentation with a Crohn's related malignancy is generally twenty years from diagnosis. This case outlines that of a young man who presented to the emergency department with abdominal pain and was subsequently discovered to have a malignant stricture complicating underlying Crohn's disease that was previously quiescent and undiagnosed. It demonstrates that a new diagnosis of Crohn's disease does not rule out previously quiescent underlying disease and therefore risk of colrectal carcinoma.

A comparison of surgical impression, histological findings and microbiological results at open appendicectomy.

There is no accurate predictor of complications following open appendicectomy. Surgical impression, histological findings and peritoneal culture swabs have been used. The value of peritoneal culture swab was assessed in this study. All patients undergoing open appendicectomy between January 2003 and December 2005 were included in the study. During the 24-month period, 952 patients underwent open appendicectomy. Peritoneal culture swabs were taken from 309 patients (32%). There was a significant difference in the mean postoperative length of stay +/- SEM between those with a positive culture (7 days +/- 0.6), those with a sterile culture result (3.7 days +/- 0.2) and those on whom a culture swab was not taken (4.9 days +/- 0.3); p<0.0001, ANOVA. Surgeons were more likely to overcall the severity of the appendix pathology (p < 0.0001 surgical vs. histological findings; Fisher's exact test), however, there was no significant difference in the power of surgical or histological assessment of the appendicitis at predicting a positive peritoneal culture result. Complex appendicitis was more likely to be associated with a positive peritoneal culture (P < 0.0001; Fisher's exact test). No antibiotic regime was changed on the basis of a positive culture swab. Fifteen patients were readmitted within 6 months of appendicectomy, predictors of readmission included histologically confirmed complex appendicitis and a positive peritoneal culture swab. Peritoneal culture swabs do not improve immediate postoperative therapy based on surgical impression and rapid histological reporting, however, the routine use of peritoneal culture swabs may be of value in identifying patients requiring outpatient follow-up.

The 16s/23s ribosomal spacer region as a target for DNA probes to identify eubacteria.

Variable regions of the 16s ribosomal RNA have been frequently used as the target for DNA probes to identify microorganisms. In some situations, however, there is very little sequence variation observed between the 16s rRNA genes of closely related microorganisms. This study presents a general method to obtain species-specific probes using the spacer (intergenic) region between the 16s and 23s rRNA genes. The overall strategy is analogous to that which has previously been developed for the variable regions of the 16s rRNA genes. Sequence analysis of the 16s rRNA and 23s rRNA coding sequences flanking the spacer regions resulted in the design of PCR primers that can be used to amplify the spacer regions of a wide range of eubacteria. Sequencing the amplified spacer region then gives rise to the information that can be used to select specific DNA sequences for use as a DNA probe or for the generation of specific PCR primers to a microorganism of interest. In this study the approach to develop specific DNA markers for members of the genus Clostridium is described in detail. A specific DNA oligonucleotide probe and PCR primers have been designed for Clostridium perfringens that distinguish it from other organisms in the genus.