The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.

Introduction: Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing. These deaths potentially may represent the worst of cases, thus possibly overestimating the prevalence of potentially disease causing mutations in the 3 major long-QT syndrome (LQTS) genes in the general population.

Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.

Familial hypercholesterolemia (FH) is a genetic disorder that may lead to premature coronary heart disease (CHD) and sudden cardiac death (SCD). Mutations in the LDLR or APOB genes cause FH. We have screened the LDLR and the ligand-binding region of APOB genes in 52 cases of SCD.

Differences in investigations of sudden unexpected deaths in young people in a nationwide setting.

Background: Inherited disease may be causative in many young sudden unexpected death cases. Autopsy is essential in the counselling of the bereaved, as the family of the victim may be at risk too. In a nationwide setting operating under the same set of laws, we hypothesized that regional differences exist in the investigation of young persons dying suddenly and unexpectedly.

Sudden unexpected death in infancy in Denmark.

Background: Incidence of sudden unexpected death in infancy (SUDI) and sudden infant death syndrome (SIDS) differs among studies and non-autopsied cases are difficult to assess.

Objectives: To investigate causes of sudden death in infancy in a nationwide setting. Validate the use of the ICD-10 code for SIDS (R95) in the Danish Cause of Death registry.

Nationwide study of sudden cardiac death in persons aged 1-35 years.

Aims: The aim of this investigation was to study the incidence of sudden cardiac death (SCD) in persons aged 1-35 years in a nationwide setting (5.38 million people) by systematic evaluation of all deaths.

Methods And Results: All deaths in persons aged 1-35 years in Denmark in 2000-06 were included.

Incidence and etiology of sports-related sudden cardiac death in Denmark--implications for preparticipation screening.

Background: Studies on incidences of sports-related sudden cardiac death (SrSCD) are few and data are needed for the discussion of preparticipation screening for cardiac disease.

Objective: We sought to chart the incidence and etiology of SrSCD in the young in Denmark (population 5.4 million) and to compare this to the incidence of sudden cardiac death (SCD) in the background population.

[Sudden unexpected death--hypertrophic cardiomyopathy--genetically verified post-mortem].

Hypertrophic cardiomyopathy (HCM) may have sudden death as its first presentation. This case presentation describes a 25-year-old man with post-mortem finding of previously unknown left ventricular hypertrophy. Genetic analysis revealed a mutation in the myosin-binding protein C (MYBPC3).

Plaque in superficial femoral arteries indicates generalized atherosclerosis and vulnerability to coronary death: an autopsy study.

Objectives: Risk factors for atherosclerosis have limited ability to identify persons at high risk of coronary heart disease. Assessment of subclinical atherosclerosis in peripheral arteries might improve this limitation. We studied the relationship between atherosclerotic plaques in peripheral arteries, coronary plaques, and coronary death.

Characterization of cardiomyopathy cases at a forensic institute in the period 1992-2006 and perspectives for screening.

We surveyed our data over a 15-year period to determine the prevalence of cardiomyopathy diagnoses in our database and characterized the cases in regards to demographic and clinicopathological data. Furthermore we evaluated implications for screening. The data were acquired through our computerized database containing autopsy reports.

Artery-related differences in atherosclerosis expression: implications for atherogenesis and dynamics in intima-media thickness.

Background And Purpose: Information about the expression of atherosclerosis in different arteries is important. The impact of cardiovascular risk factors is artery-related, and the assessment of arterial structure and function in peripheral arteries are increasingly used as surrogate markers for coronary atherosclerosis and the risk of developing heart attack.

Methods: In an autopsy study, we analyzed the coronary, carotid and superficial femoral arteries from 100 individuals (70 men; 20 to 82 years of age) of which 27 died from coronary atherosclerosis.

The histological demonstration of lipids in the proximal renal tubules of patients with diabetic coma.

The Armanni-Ebstein phenomenon is a vacuolization of the cells of the proximal kidney tubules in diabetic coma. It has been believed to represent glycogen. In the present examination of 14 cases of diabetic coma, high contents of lipids, probably triglycerides, were demonstrated in the vacuoles by histological staining.

Lemierre syndrome : Three cases of "the forgotten" disease.

Lemierre syndrome is a rare clinical entity involving oropharyngeal infection and anaerobic bacteremia, followed by jugular vein septic thrombophlebitis with embolization and metastatic abscess formation in the lungs, liver, and other organs. Even though it occurs less frequently than in the pre-antibiotic era, it is still important both as a pathologist and as a clinician to recognize the typical presentation because of its lethal potential. Three clinically undiagnosed cases with lethal outcomes are described.

Drug and alcohol use among patients admitted to a Danish trauma centre: a prospective study from a regional trauma centre in Scandinavia.

Objectives: The incidence of drug and alcohol use is unknown among Danish trauma patients, and has not been thoroughly investigated in Europe.

Methods: Patients admitted to the regional trauma centre in Aarhus, Denmark, were prospectively screened by blood and urine tests for the presence of alcohol, and legal and illicit drugs. The correlation with the Injury Severity Score, hospitalization time, and mortality after drug or alcohol intake was investigated.

Meckel's diverticulum and intestinal obstruction--report of a fatal case.

Meckel's diverticulum is an uncommon cause of intestinal obstruction in adult life. Rarely Meckel's diverticulum is complicated by a mesodiverticular band, which is believed to be a remnant of a vitelline artery. When this abnormality occurs it is associated with high mortality.

Accumulation of triglycerides in the proximal tubule of the kidney in diabetic coma.

Aims: The present study was initiated by a very recent histochemical observation of lipid accumulation in the renal cortex of a woman who died in a diabetic coma. Two older reports of lipid accumulation in the kidneys of patients who died, most likely in a state of non-regulated diabetes, supported this observation. We have examined whether lipid accumulation in the renal cortex is characteristic of diabetic coma and, if so, which type of lipid accumulates.