Wataru Kawashima

Respiratory complications of Ehlers-Danlos syndrome type IV.

We describe a case of Ehlers-Danlos syndrome (EDS) type IV in a male in early half in his twenties, who experienced recurrent and eventually fatal pulmonary hemorrhage. EDS type IV is a rare disorder of type III collagen synthesis that is characterized by unusual facies, thin translucent skin with a venous vascular pattern, easy bruising, and hypermobility of the small joints. Autopsy findings showed hypermobility of the joints and distensibility of the skin. Microscopically, the abdominal skin showed substantially decreased dermal thickness. Moreover, the reticular dermis showed fine collagen bundles and large interstitial spaces compared with the skin from a normal control that showed large collagen bundles. Individual elastic fibers were also thicker than those observed in the skin of a normal control. The thoracic aorta showed thin adventitia and a relative increase in elastic fibers. The parenchyma of both the lungs showed markedly diffuse hemorrhage with hemosiderin-laden alveolar macrophages or old thrombi and organized thrombi in the small bronchi. Furthermore, both sections of the lung showed multiple fibrous nodules containing benign metaplastic bone. Vascular wall disruption and tearing of the vessel walls in the lung parenchyma were also observed. We concluded that EDS type IV led to the patients death because of pulmonary hemorrhage. Because this syndrome resulted in the patients death from arterial and bowel rupture, it is important to consider EDS as a potential cause of sudden death.

Estimating the Time after Death on the Basis of Corneal Opacity

Estimation of the time after death (TAD) is an important aspect of forensic science. The cornea becomes increasingly opaque with an increase in TAD and corneal opacity is used for TAD estimation. However, previous methods are subjective, and there is a risk of human error. To establish an objective method, we propose a new method for TAD estimation. We applied RGB image analysis to the corneal color of cadavers. We then examined if there was a correlation between these color parameters and actual TAD, age, position at death, and environmental temperature. We found that corneal opacity was affected only by TAD. The method described here is objective and easy to use, and TAD can be estimated within a very short period of time, making this method particularly useful. To further increase the accuracy of TAD estimation, other quantifiable parameters could also be evaluated.

Asphyxial death related to postextraction hematoma in an elderly man

We here report an autopsy case of a man in his seventies who died from asphyxia due to compression of the trachea caused by postextraction bleeding after extraction of his left mandibular third molar by a dentist in private practice. On the morning after the tooth extraction, he had complained of dyspnea and became unconscious at home. Although he was brought to the emergency room by ambulance, he died 7 days later without regaining consciousness. Autopsy examination revealed that the lingual side of the alveolar bone was fractured at the extraction socket. Moreover, subcutaneous bleeding that extended from the extraction socket to the thyrohyoid ligament in the cervical region and deviation of the epiglottis due to the bleeding were observed. Histological findings revealed liver cirrhosis; there were no significant findings in other organs. On the basis of these findings, we concluded that alveolar bone fracture occurred during the extraction and that the bleeding spread to the cervical region. Thus, the patient had died from asphyxia resulting from airway obstruction caused by cervical subcutaneous bleeding derived from postextraction bleeding. We emphasize that tooth extraction may cause fatal complications in patients with bleeding tendencies, particularly in the elderly.

Two Autopsy Cases of Water Intoxication

We here report two autopsy cases of men with an intellectual disability who died from water intoxication. (Case 1) A 22-year-old man was found dead in a prone position in his room. Autopsy and histological findings revealed the edema of brain and lung. The serum Na value was 108 mEq/L. (Case 2) A 23-year-old man suddenly fell and was found unconscious. Autopsy and histological findings revealed the edema of brain and lung. In lung tissue, deposition of fibrin around the vessels, was found. The serum Na value was <100 mEq/L. On the basis of these findings, we concluded that they were died from water intoxication and hyponatremia as a result of massive drinking. We also discuss new autopsy findings that support the diagnosis of water intoxication and we investigate the serum Na value of autopsy cases (N=17) in order to analyses the postmortem change of serum Na value.

Vector-controlled alveolar distraction osteogenesis using an implant-fixed provisional prosthesis: a case report.

This is a case report of anterosuperior alveolar distraction using an implant-fixed provisional prosthesis. Osteotomy and placement of a distraction device were performed in a healthy 69-year-old woman. To avoid lingual inclination during the distraction period, the devices rod was buried in the labial side of a provisional prosthesis supported by posterior implants. The mandibular bone was obliquely distracted by 0.3 mm every 2 days. Implant insertion was performed, and a good prognosis was anticipated. Inclination is thought to be caused by soft tissue on the lingual side. Many reports propose methods to avoid inclination, but these methods require established support from the teeth and cannot be adapted for an edentulous case. The method reported here is useful for distraction osteogenesis because it can be adapted for edentulous cases.

MICA gene polymorphism not associated with nonsyndromic cleft lip with or without cleft palate in the Japanese population

UNLABELLED Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common birth defects. Despite its frequency, the etiology remains largely unknown. Most likely, both genetic and environmental factors contribute to this malformation. A polymorphic gene family, the major histocompatibility complex class I chain-related gene A (MICA), is located about 40 kb centromeric to the HLA-B gene. In this study, we analyzed the association between MICA gene polymorphisms and NSCLP in Japanese patients. METHODS The (GCT)n polymorphism of the MICA gene was investigated in 94 patients with NSCLP and 180 normal controls using polymerase chain reaction amplification and denaturing polyacrylamide gel electrophoresis. RESULTS Our results demonstrate that there are no differences in microsatellite allele frequency between NSCLP patients and controls. However, the microsatellite allele frequency of the MICA-A6 (p = 0.045) allele was increased in male patients, as compared with controls. Further, the MICA-A5 (p = 0.359) allele was also increased in female NSCLP patients. CONCLUSION These results suggest that the microsatellite allele frequencies of the MICA-A6 allele increased in male NSCLP patients. Although the MICA-A5 allele increased in female NSCLP patients, the increase was not statistically significant. These results suggest that the MICA gene could be one of the candidate genes for NSCLP.

Autopsy case of a patient with 13q− syndrome

Partial deletion of the long arm of chromosome 13 results in 13q(-) syndrome, and phenotypes of affected patients vary widely. We describe an autopsy case of the sudden, unexpected death of a 17-year-old boy with 13q(-) syndrome. He had severe psychomotor retardation and had been receiving follow-up care. One day he was found dead in his house and autopsy was performed to elucidate the cause of death. Autopsy findings revealed lobulation anomalies of the lungs, hypoplasia of the adrenal and thyroid glands, and apituitarism due to hyperplasia of bone in the hypophyseal fossa. No other pathological lesions were observed. Chromosomal analysis confirmed interstitial deletion from the long arm of chromosome 13. Karyotype was 46,XY, del(13)(q14.3q32). We concluded that the patient died of multi-organ dysfunction due to apituitarism. Autopsy cases of 13q(-) syndrome are rare. Furthermore, lobulation anomalies and apituitarism associated with 13q(-) syndrome have not previously been described. This case report offers novel clues to elucidating critical regions of chromosome 13 associated with malformations of the lungs and pituitary gland.