Tomonori Nagai

Proposal of new ICD code for suicide by charcoal burning

Suicide—which claims over 1 million lives annually—is an important global healthcare issue, and examination of the impact of charcoal burning on overall suicide rates is required for effective prevention policies.1 2 Lin et al 2 and Liu et al 1 note that suicide by charcoal burning and other forms of gas poisoning (grouped together by the International Classification of Disease (ICD)) made up approximately one-quarter (24% in Hong Kong and 25% in Taiwan) of all suicides in 2002. However, the ICD …

Sudden death caused by tension pneumothorax after rupture of a thoracic aortic aneurysm. Case report.

A rare case of fatal tension pneumothorax is reported. An aged Japanese man with marked subcutaneous emphysema of the neck was found collapsed in a betting office. He was ascertained to have left tension pneumothorax, based on radiographic examinations carried out before his death. At autopsy, severe pneumomediastinum was observed, and the descending thoracic aorta with a ruptured dissecting aneurysm was closely adhered to the left lung pleura. The hemorrhage spread into the pulmonary parenchyma and finally spouted out from the surface of the lung apex. Because the blood loss itself was not fatal in quantity, it is concluded that the patient died of tension pneumothorax caused by a lung penetration from the rupture of an aortic aneurysm.

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

The recent introduction of metabolic autopsy in the field of forensic science has made it possible to detect hidden inherited metabolic diseases. Since the next generation sequencing (NGS) has recently become available for use in postmortem examinations, we used NGS to perform metabolic autopsy in 15 sudden unexpected death in infancy cases. Diagnostic results revealed a case of carnitine palmitoyltransferase II deficiency and some cases of fatty acid oxidation-related gene variants. Metabolic autopsy performed with NGS is a useful method, especially when postmortem biochemical testing is not available.

Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year

The autopsy findings of an adult patient with 21-hydroxylase deficiency are presented. Genetic analysis of the 21-hydroxylase gene (CYP21A2) was performed for accurate diagnosis of congenital adrenal hyperplasia (CAH), and bilateral testicular tumors were characterized. We report a 29-year-old Japanese man who was diagnosed with CAH (21-hydroxylase deficiency) in infancy and had continued steroid therapy until the age of 28. However, for more than one year, he had not been treated for CAH and was found dead. In the medico-legal autopsy findings, both adrenal glands were enlarged, and hypertrophy of adrenal cortices and bilateral testicular tumors positive for melan-A were observed. Genomic DNA was prepared from cervical lymph nodes collected during autopsy, and CYP21A2 was PCR amplified and sequenced directly using newly designed primers. From the morphological findings, the bilateral testicular tumors were considered to be adrenogenital syndrome (TTAGS). Through the whole sequence of CYP21A2, the intron 2 splice mutation (656)A to (656)G was found. TTAGS were thought to be adrenal rests enlarged by ACTH stimulus. From the autopsy findings and the result of genetic analysis, he was diagnosed with the salt-wasting form of 21-hydroxylase deficiency and his cause of death was presumed to be heart failure based on abnormal electrolytes.

An Autopsy Case in Which Self-Bloodletting Via a Cervical Blood Access Led to a Fatal Outcome

Abstract:  A 48‐year‐old woman was found dead on a chair in her living room. She had received dialysis every day because of chronic renal failure for the past 15 years. On a table beside her, there was a mirror and 10‐mL syringe on a napkin. A stopper was out of place in a portion of a three‐way blood access tube established in the right cervical region, and blood coagulation was noted in the lumen. There was a bloodstained measuring cup on the floor. Autopsy findings included a large number of shunt traces in the bilateral infraclavicular fossae and upper limbs, as well as the cervical blood access terminal reaching the right atrium via the internal jugular vein to superior vena cava. Various organs showed anemia. Neither a fatal lesion nor injury was noted in the main organs. Therefore, this patient may have committed suicide by self‐bloodletting via a cervical blood access.