Jun Kanetake

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long-arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual.

Dental identification using digital images via computer network.

Dental identification is a useful scientific method. In Japan, however, there are only a few forensic odontologists; moreover, until now, forensic dental services have only been offered by general dentists. These dentists may not be able to offer such forensic services during office time. For a quick comparison, the authors tried sending digital photos, taken with a 2-million-pixel digital camera, to dental offices via the Internet. If a dental office has Internet access, it is possible for dental charting to be sent directly to the autopsy room. Of course, digital images only provide the first outline. However, when antemortem dental records of the person in question are available at autopsy, a quick comparison can be made.

A case of lethal soft tissue injuries due to assault.

A 42-year-old male had been assaulted by his family over the two previous days and went into a deep coma. When the emergency technician arrived, the patient was in a state of cardiopulmonary arrest. On arrival, his electrocardiogram showed asystole. His body showed swelling with subcutaneous hemorrhage, suggesting multiple contusional wounds. Serum biochemistry evaluation revealed blood urea nitrogen of 80 mg/dL, creatinine of 5.99 mg/dL, creatine phosphokinase of 10,094 IU/L, and potassium of 11.0 mEq/L. Advanced cardiopulmonary resuscitation failed to obtain a return of spontaneous circulation. Laboratory findings revealed rhabdomyolysis, renal failure, and hyperkalemia. Autopsy did not indicate the direct cause of death to be traumatic organ injuries. Because trauma was not the direct reason of death, we speculated that the patient died of hyperkalemia induced by multiple contusional soft tissue injuries, following rhabdomyolysis, hemolysis, and acute renal failure. The physician should maintain a high index of suspicion for hyperkalemia induced by rhabdomyolysis and acute renal failure, especially in patients presenting with symptoms of multiple soft tissue injuries with massive subcutaneous hemorrhaging.

Sudden collapse after minor head injury in an elderly man; association with cardiocerebral decompensation and fat embolism syndrome

An 86-year-old man suffering from right hemiparesis and dementia fell from a stretcher and sustained laceration and bruising to his right eyebrow. He was brought to an emergency room, and his wounds were treated. Shortly after discharge, his respiratory and mental status dramatically declined. Despite supportive care, he died about three hours after re-admission. Autopsy revealed a minor laceration to the eyebrow with minor intracranial injuries, mild cardiomegaly (370 g) with right atrial dilatation, pericardial effusion (170 ml) and marked pulmonary edema. Microscopically, fatty droplets were observed in the lung capillaries, the glomeruli and the intracerebral vessels. Although the extent of the original injuries seemed insufficient to cause systemic fat embolism syndrome (FES), the patients decreased cardiac reserves and stress associated with this event likely contributed to his death consistent with the physiochemical model of FES pathogenesis.