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. Deceased patients were younger than 40 years of age and were suspected of having FH. The LDLR and APOB genes were examined via PCR, high-resolution melting, and DNA sequencing. Therein, it was observed that 7.7% of the screened patients exhibited a rare sequence variant in the LDLR gene, with 5.7% suspected of being pathogenic mutations. Lipid profiles and genetic testing for FH could be considered when autopsy reveals significant atherosclerosis of the coronary arteries in young adults. First-degree family members are advised to seek medical advice and testing to determine their own risks of atherosclerosis to prevent premature CHD and SCD.     

Rechtzeitigkeit einer Berufung per E-Mail ohne Betreff

Eine Berufung ist iSd § 63 Abs 5 AVG dann eingebracht, wenn sie bei der Beh?rde tats?chlich eingelangt ist, was bei einer E-Mail-Sendung dann der Fall ist, wenn sie von einem Server, den die Beh?rde für die Empfangnahme von an sie gerichteten E-Mail-Sendungen gew?hlt hat, empfangen wurde und sich damit im "elektronischen Verfügungsbereich" der Beh?rde befindet. Wurde ein E-Mail vom Beh?rdenserver empfangen und gelangte es somit in den "elektronischen Verfügungsbereich" der Beh?rde, dann kann der Hinweis in der Antwort der Beh?rde, E-Mails ohne Betreff würden nicht entgegengenommen, an der Rechtzeitigkeit der Berufung nichts mehr ?ndern.     

Toxicological and pathological findings in a series of buprenorphine related deaths. Possible risk factors for fatal outcome

Buprenorphine is considered to have little respiratory side effects at therapeutic doses and the partial agonistic properties should produce a "ceiling effect" for respiratory depression at higher doses. Still, there are several reports on buprenorphine related deaths. Most deaths involve drug users and the co-administration of other CNS depressant drugs as well as reduced tolerance have been suggested to be risk factors. The primary aims were to investigate if lack of tolerance and/or co-ingestion of other psychotropic drugs are significant risk factors in buprenorphine fatalities. From July 2005 to September 2009, all autopsy cases where buprenorphine or norbuprenorphine had been detected in femoral blood and where analysis of buprenorphine had been performed in urine were selected. Results from the postmortem examination and toxicology were compiled. Postmortem toxicology was performed using the routine methodology at the laboratory. In total, 97 subjects were included in the study. These were divided into four groups; Intoxication with buprenorphine (N=41), Possible intoxication with buprenorphine (N=24), Control cases where buprenorphine was not the cause of death (N=14), and Unclear (N=18). The metabolite to parent compound ratios in both blood and urine in the Intoxication group were significantly different from those in the Control and Unclear groups. An extensive poly-drug use was seen in all groups with several additional opioids in the Possible group (54%) and in the Unclear group (78%) and hypnotics or sedatives in more than 75% of the Intoxication, Possible, and Unclear cases. Illicit drugs were present in all groups but not to a great extent with amphetamine and tetrahydrocannabinol as the main findings. Interestingly, 4 cases in the Intoxication group presented with no other significant drugs in blood other than buprenorphine. We conclude that a lethal concentration of buprenorphine in blood cannot be defined. Instead the analysis of blood as well as urine can be an important tool to show that the drug was taken shortly before death and to rule out a continuous use of buprenorphine supporting the notion that abstinence is an important risk factor. The presence of alprazolam in more than 40% of the Intoxications and the presence of hypnotics and sedatives in 75% of the Intoxications suggests that these drugs interact with buprenorphine producing toxic effects that buprenorphine alone would not have produced. Still, in 10% of the Intoxications no other drugs were found indicating that under certain circumstances buprenorphine alone may produce respiratory depression resulting in death.     

Insomnia, nightmare frequency, and nightmare distress in victims of sexual abuse: the role of perceived social support and abuse characteristics

In this study of victims of sexual abuse, the aim was to investigate the role of perceived social support and abuse characteristics in self-reported insomnia, nightmare frequency, and nightmare distress. Four hundred sixty Norwegian victims of sexual abuse completed a questionnaire assessing perceived social support, abuse characteristics, insomnia, nightmare frequency, and nightmare distress. Results show that higher levels of perceived social support were related to lower scores on all symptom outcome measures. Abuse involving oral, genital, or anal penetration was related to more insomnia symptoms. Longer duration of abuse and threatening conducted by the perpetrator were related to higher nightmare frequency, while threats and abuse involving penetration were related to higher degrees of distress associated with nightmares. In conclusion, the present study provides preliminary data indicating that perceived social support may affect the nature of sleep difficulties in sexual abuse victims. Also, more severe forms of sexual abuse are related to higher levels of sleep difficulties.     

The biochemistry of vitreous humour. A comparative study of the potassium, sodium and urate concentrations in the eyes at identical time intervals after death

Analysis of the vitreous humour from an individual's eyes collected at the same time since death showed variation between the eyes in the concentration of potassium, sodium and/or urate. This previously unreported finding would limit the use of measuring these electrolytes in determining the time of death.