Prothrombin gene mutation uncommon in pulmonary embolism.

BACKGROUND: Venous thrombosis followed by pulmonary embolism is one of the most common causes of sudden death among middle-aged adults. Several inherited polymorphisms are associated with heightened risk of venous thrombosis, including mutation at position 20210 of the prothrombin gene and mutation at codon 506 of the factor V gene. METHODS: We studied mutation prevalence in 67 individuals who died of pulmonary embolism and were autopsied in a medical examiner's facility over a 5-year period. Mutations were identified by polymerase chain reaction followed by allele-specific endonuclease digestion. RESULTS: Traditional risk factors for pulmonary embolism (eg, immobility, oral contraceptive use, cancer) were identified in 75%. Heterozygous mutation of the prothrombin gene was found in 3/67 (4%), and heterozygous mutation of the factor V gene was identified in 3/66 (4%). No homozygotes or compound heterozygotes were identified. The prevalence of mutation was not significantly different from that of the general population. CONCLUSIONS: Individuals who die suddenly from pulmonary embolism are not often affected by prothrombin or factor V gene mutations. Therefore, medical examiners need not routinely test for these mutations in individuals who die of pulmonary embolism.

Activated protein C resistance is uncommon in sudden death due to pulmonary embolism.

Activated protein C resistance (APC-R) is the most common inherited defect of the coagulation system known to date, affecting 3-5% of Americans. It is an autosomal dominant disorder associated with an increased risk of venous thrombosis and is reportedly found in 21% of individuals with deep venous thrombosis. Medical examiners are in a unique position to make the diagnosis since a fatal pulmonary embolism may be the first manifestation of the disorder. This study examines the prevalence of APC-R in individuals who die suddenly of pulmonary embolism to help medical examiners decide if routine testing is indicated. We examined 66 cases of sudden death due to pulmonary embolism seen at the Bexar County Forensic Science Center in San Antonio, Texas, from 1993-1997. The median age was 46 years with a range of 14 to 93 years. Fifty-three percent were Caucasian, 24% were African-American, and 23% were Hispanic. Twenty-seven percent had no known risk factors for pulmonary embolism. Whole blood was tested for the factor V codon 506Q mutation responsible for APC-R using polymerase chain reaction. The prevalence of APC-R was 4.5%, which is similar to the prevalence of APC-R in the general American population. These data imply that individuals with APC-R are not in increased risk for sudden death due to pulmonary embolism, or, conversely, that most fatal pulmonary emboli seen in the medical examiner setting are not induced by APC-R. Routine postmortem testing for the factor V 506Q mutation does not appear indicated at this time, given the low prevalence and high cost of testing.

Artifact from an electrosurgical ground pad.

Artifacts from medical intervention are frequently present in medicolegal autopsies and must be distinguished from injuries of forensic interest, particularly in deaths from trauma. In this case, burns resulting from incomplete skin contact of an electrosurgical ground pad during surgery for multiple gunshot wounds were initially confused with abrasions caused by impact of bullet fragments. Inspection of the decedent's clothing and of the medical records revealed the true etiology of this injury.

Death due to attack from chow dog.

It is estimated that between one and four million persons per year are bitten by dogs in the United States. While most injuries associated with the bites are minor, serious sequelae, and even death, may occur. Most victims of fatal dog attacks are children < 1 year of age or elderly women. The most frequent cause of death is hemorrhage and shock from major vessel damage. A case is reported in which an elderly woman was attacked by her pet Chow dog. The victim received multiple superficial abrasions, contusions, and lacerations from the dog attack. A large perforation of the right external pudendal vein and three perforations of the left superficial femoral vein resulted in exsanguination and death. Fractures of the left 2nd through 4th ribs with underlying pulmonary contusion were also found.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and X-linked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to this region of the X chromosome and represents an example of a "contiguous gene syndrome." A comparison of the manifestations of patients with CPXR, warfarin embryopathy, and vitamin K epoxide reductase deficiency shows a remarkable similarity. However, vitamin K epoxide reductase deficiency does not appear to be the cause of CPXR. We propose that CPXR may be due to a defect in a vitamin K-dependent bone protein such as vitamin K-dependent bone carboxylase, osteocalcin, or matrix Gla protein.