The dysmorphic phenotype in vascular Ehlers Danlos syndrome.

The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to COL3A1 gene variants and the potential recognition of some other EDS subtypes, including COL1A1 and COL25A1 that can present with vEDS-like features, with certain dysmorphic handles as clues to the diagnosis and the adjunct of gene testing in patients presenting with vEDS features.

Comparison of findings identified at traditional invasive autopsy and postmortem computed tomography in suicidal hangings.

Cases of suicidal hanging are a common death referred for medico-legal autopsy throughout the world. Although some advocate using postmortem computed tomography (PMCT) without traditional invasive autopsy (TIA) to investigate such deaths, others reject this approach. There is currently limited evidence to guide practice. In this context, the TIA reports and PMCT images of 50 cases of suspected suicidal hanging during an 11-month period were reviewed. The reviewers were blinded to the findings of the other modality. A Cohen's Kappa coefficient (K) was calculated to assess agreement between TIA and PMCT across a range of pertinent findings. This analysis demonstrated perfect agreement for identification of a ligature (K = 1.00) and a strong level of agreement for identification of a ligature suspension point (K = 0.832) but only a minimal level of agreement for overall ligature mark (K = 0.223). PMCT demonstrated a weak level of agreement for fractures of hyoid bone (K = 0.555) and thyroid cartilage (K = 0.538). Three probable fractures not identified at TIA were identified on PMCT. TIA was shown to be superior in the identification of intramuscular and laryngeal fracture-related haemorrhage/bruising whereas PMCT was superior to TIA in identifying body gas deposition. There was overall good correlation between the natural disease and trauma identified elsewhere in the body during the TIA and PMCT. The study demonstrates that PMCT can assist the investigation of suspected suicidal hangings. However, the accuracy of many findings is limited, and if it is used as an alternative to the TIA, potentially pertinent findings, such as fractures of the laryngeal cartilages, could be missed.

Carbon monoxide poisoning from disposable charcoal barbeques.

Carbon monoxide poisoning is a common cause of accidental death and suicide. This article reports 4 cases of carbon monoxide poisoning following the inhalation of fumes from disposable charcoal barbeques in a confined space. All of the cases occurred within a 2-year period in Northern Ireland.

Air embolism during sexual intercourse in the puerperium.

Air embolism is a rare but well-recognized cause of sudden death during pregnancy or in the puerperium. Many of the cases described in the medical literature are associated with sexual activities, in particular following air insufflation during orogenital sex. This case report describes the sudden death from air embolism of a young woman during consensual penetrative vaginal intercourse with her male partner 12 days into the puerperium.

Cocaine: recent trends in Northern Ireland.

A review of autopsy reports in cases in which cocaine featured in the cause of death in Northern Ireland revealed that there were 18 deaths between 1(st) January 1999 and 31(st) December 2007. Analysis revealed an increasing incidence of these deaths during the study period and this is compared to national statistics and those published by local drug addiction services and police.