Death in bathtub revisited with molecular genetics: a victim with suicidal traits and a LQTS gene mutation.

A 44-year-old woman with a medical history of mental disorders and previous suicidal behaviour was found in a bathtub and pronounced death few minutes later despite of resuscitation attempts. After police investigation and on the basis of autopsy findings, the death was classified as suicide drowning. Retrospective examination of clinical data revealed, a prolonged rate-corrected QT-interval (QTc: 468 ms) 3 months before death. Post-mortem (PM) DNA analysis disclosed KCNH2(FIN) mutation for the long-QT syndrome (LQTS). The value of PM molecular screening for LQTS is emphasised, especially for victims of putative drowning.

Age-dependent association of apolipoprotein E genotype with coronary and aortic atherosclerosis in middle-aged men: an autopsy study.

BACKGROUND: Apolipoprotein E (apoE) polymorphism is one of the genetic determinants of serum cholesterol values. The apoE epsilon4 allele has been associated with advanced coronary heart disease (CHD) diagnosed by angiography, but the role of the apoE genotype in atherosclerosis has not been confirmed at vessel-wall level, nor is any age-dependent effect of the apoE genotype on the development of CHD known. METHODS AND RESULTS: The right and left anterior descending coronary arteries (RCA and LAD) and the aorta from 700 male autopsy cases (Helsinki Sudden Death Study) in 1981-1982 and 1991-1992 (average age 53 years, range 33 to 70 years) were stained for fat, and all areas covered with fatty streaks, fibrotic plaques, and complicated lesions were measured. In the RCA and LAD, the apoE genotype was significantly associated with the area of total atherosclerotic lesions in men <53 years old but not with that in older men (P=0.0085 and P=0.041, respectively, for age-by-genotype interaction). Men <53 years old with the epsilon4/3 genotype showed 61% larger total atherosclerotic lesion area in the RCA (P=0.0027) and 26% larger area in the LAD (P=0.12) than did men with the epsilon3/3. The apoE epsilon4/3 was also associated with atherosclerotic lesions in the abdominal (P=0.014) and thoracic (P=0.12) aorta, but this effect, unlike that of the coronary arteries, was not age-related. CONCLUSIONS: In men, the apoE epsilon4 allele is a significant genetic risk factor for coronary atherosclerosis in early middle age. This suggests that at older age, other known risk factors of CHD play a more important role in the atherosclerotic process than apoE polymorphisms.

Post-mortem cast angiography in the diagnostics of graft complications in patients with fatal outcome following coronary artery bypass grafting (CABG).

The advantages and limitations of a novel post-mortem angiographic method using solidifying silicone rubber and lead oxide as a contrast medium in detecting coronary artery graft complications on a routine basis were evaluated in a series of 223 consecutive patients with fatal outcome within 30 days following coronary artery bypass grafting (CABG). Of these patients, 166 (74.4%) were male and 57 (25.6%) female (mean age 61.9 +/- 9). Coronary grafts totalled 660 (3.0 per patient) with 517 aortic and 838 coronary anastomoses. At autopsy, the rubber cast model of the grafts and coronary arterial tree was exposed by a bend scalpel and sites of possible complications were examined. Post-mortem angiographs were re-evaluated and compared with preoperative angiographs and dissection findings. By combining the findings of angiography and heart dissection, 122 (54.7%) of the 223 patients were found to have some type of complication of the graft or the anastomosis. The diagnostic sensitivity and specificity of post-mortem angiography was 100% in assessing narrowing or twisting of the graft as well as narrowing of the aortal anastomosis, whereas these findings were revealed with difficulty by autopsy dissection only. In cases with correct x-ray projection, narrowing and occlusion of the proximal aortal and distal coronary anastomosis were also reliably revealed by angiography. In contrast, graft thrombosis was clearly overdiagnosed by angiography, leading to a lower specificity (84%) but high sensitivity (100%) in detecting this complication. Post-mortem angiography also failed to detect dissection of the wall of the graft or anastomosis. Technical problems with this angiographic method were due to too low perfusion pressure, too rapid polymerizing of the silicone rubber, leakage of contrast medium into the ventricles, or faulty x-ray projections. These results suggest that our post-mortem angiographic technique, yielding a permanent rubber-cast model of the graft and anastomosis site, improves the accuracy of diagnostics of postoperative CABG complications and eases postoperative autopsy dissection, which can now be directed to confirm suspected complications.

Alcohol consumption and alcoholic liver disease: evidence of a threshold level of effects of ethanol.

The effects of long-term moderate or "social" alcohol consumption (10-80 g daily intake) on the incidence of features of alcoholic liver disease (ALD) were delineated in a consecutive autopsy series of 210 males. The subjects' daily intake, as well as duration of alcohol consumption, was determined by an interview with the spouse or a close acquaintance and compared with semiquantitative histological scores for stage of ALD. No significant increase in the incidence of features of ALD could be related to all-year daily intake of ethanol below 40 g (40 g equals 1.1 liter of beer, 0.44 liter of wine, and 0.11 liter of spirits). However, daily intake between 40-80 g increased relative liver weight on average 3.1 g/kg of body weight (p < 0.02), the frequency of fatty liver from 11.7 to 47.2% [relative risk (RR) = 4.4], and the frequency of mainly slight alcoholic hepatitis up to 16.7% (RR = 7.5). The incidence of both bridging fibrosis and liver cirrhosis increased significantly (RR = 8.8) only when daily intake exceeded 80 g. Amounts of ethanol exceeding 80 g did not relate to further increases in incidence of bridging fibrosis or liver cirrhosis. These findings suggest that, in males, daily ingestion of ethanol below 40 g for a period of 25 years does not increase the risk of alcohol-related liver disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Diagnostic angiography in postoperative autopsies.

Postmortem angiography was used as a diagnostic tool to rule out surgical malpractice in 227 medicolegal autopsies following postoperative deaths in Finland. Of the cases, 111 involved neurosurgical patients or patients undergoing operations on the carotid arteries, 62 involved coronary bypass patients, and 54 patients died following abdominal surgery. A portable perfusion device for postmortem angiography at the autopsy table involves attaching quick couplings to a compressed airline. Permanent cast and three-dimensional topographic assessment of vascular anatomy are achieved using solidifying silicone rubber with lead oxide as a contrast medium and stereopair radiographs. This technique can be performed by experienced autopsy technicians and can be linked to normal autopsy services. In our experience, postmortem angiography is useful in investigating all complicated deaths following surgical operations.

Occurrence of benign hepatocellular tumors in alcoholic men.

Focal nodular hyperplasia (FNH) and liver cell adenoma (LCA) are benign hepatocellular tumors, found mainly in females in association with the use of oral contraceptives. In adult male clinical patients and in retrospective male autopsy cases, both tumors were often found in association with chronic abuse of alcohol. This association was also found (p less than 0.025) in a prospective autopsy series on alcoholic and non-alcoholic males, in which a family member or close friends of the deceased were interviewed for estimating the consumption of alcohol. Nine of the 12 tumors found in males were FNH and three were LCA. In the average males with FNH were as old (51.0 years) as those with LCA (48.7 years). In two of the FNH cases two tumors were found. In the prospective autopsy series the weight of the liver of males with FNH was significantly (p less than 0.001) higher than that of non-alcoholic controls. A correlation (p less than 0.05), independent of age or liver weight, was found between the size of cavernous hemangioma, another hepatic tumor suggested to respond to estrogens, and daily alcohol dose. It is suggested that alcohol-induced liver cell hypertrophy or the feminizing effect of chronic use of alcohol on male sex hormone metabolism might contribute to the growth of pre-existing benign hepatocellular tumors in males.

[Can mortality in severe traumatic brain damage be generally reduced?]. / Kann die Mortalität bei schweren traumatischen Hirnschäden überhaupt mehr reduziert werden?

A total of 272 cases with fatal traumatic brain injuries were retrospectively analysed. 68% of the cases were outside of any form of therapy. Only the third of these fatal cases are ever seen by a neurosurgeon. In 12% of these fatal cases the outcome might have been improved by an optimum diagnosis and therapy. Prevention of these severe head injuries seems to be the only potential therapy.

Benign bile duct tumours, non-parasitic liver cysts and liver damage in males.

Pathogenetic associations between benign hepatic tumours and liver damage were studied in an autopsy series of 91 males with high incidence of alcoholism. Information on the consumption of alcohol was obtained by interviewing a family member or a close friend of the deceased. The reported use of alcohol correlated well with the increase of fatty and fibrotic changes and with the occurrence of liver cirrhosis, alcoholic hepatitis or pancreatitis. Benign bile duct tumours (bile duct adenomas and von Meyenburg's complexes) (n = 26) were associated with the occurrence of bridging (P less than 0.0005) and periportal (P less than 0.025) fibrosis of the liver and, independently from these, with chronic pancreatitis (P less than 0.05) and with non-parasitic liver cysts (n = 14) (P less than 0.01). The weight of the liver was greater (P less than 0.01) in males with focal nodular hyperplasia (n = 3). Cavernous hemangioma (n = 19) occurred independently of the parameters studied. None of the tumours showed significant correlation to liver cirrhosis, alcoholic hepatitis, fatty liver or diseases of the gallbladder. The results are in line with observations on the reactive nature and connections to fibropolycystic liver disease of benign bile duct tumours in laboratory animals and in man. Their presence in human liver specimens should be taken into account as a sign of liver damage, in this study related to heavy use of alcohol or to chronic inflammation of the pancreas.

Postoperative disc entrapment following cardiac valve replacement--a report of ten cases.

The sudden jamming of a prosthetic valve disc is one cause for postoperative hemodynamic deterioration. This complication occurred in 10 instances (2% of disc valves implanted), resulting in 4 fatalities. In 6 patients the disc entrapment was a complication following mitral valve replacement, and in 4 others the malfunction followed aortic valve surgery. The entrapment of the disc occurred on the second postoperative day in 3 patients. Two of these were due to an unresected chordal strand becoming wedged between the disc and valve rim of a Björk-Shiley mitral prosthesis and resulted in death. In the third patient, the aortic valve disc became attached to the Björk-Shiley composite aortic graft following the repair of an aortic dissection. A firm blood clot had formed between the graft and the oversewn aortic wall. This patient recovered after cardiopulmonary resuscitation and subsequent reoperation. The remaining cases developed while the patients were still either on the operating table or in the recovery room. The mechanisms of the disc entrapments are presented and the significance of an early correct diagnosis and urgent surgical correction is underlined.

Changes in germinal tissue and Leydig cells correlated with ethanol consumption in males with and without liver disease.

The weight of testicles and morphometric changes in testicular germinal tissue and Leydig cells were correlated with chronic consumption of ethyl alcohol and liver diseases in 44 consecutive autopsies. The mass and volume of seminiferous tubules decreased with the increase in alcohol consumption (p less than 0.05). The atrophy and fibrosis of testicles were most advanced in males with liver cirrhosis (p less than 0.005) and in males with moderate or heavy fatty liver (p less than 0.01) whereas these parameters were only slightly decreased in alcoholic males with normal liver despite the greater amount of ethanol consumed. The changes in Leydig cells were mainly inconspicious. These results indicate that the most sensitive tissue to chronic alcohol-induced injury in testis is the germinal tissue and point out the role of liver diseases in testicular damage found in alcoholics.