Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(?) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype.     

Performance of the Emit® II Plus 6-Acetylmorphine Assay on the Viva-E® analyzer

We evaluated the performance of Emit(?) II Plus 6-Acetylmorphine Assay for human urine screening on the Viva-E(?) analyzer. Precision was evaluated using the cutoff and ±25% controls. Recovery and linearity were studied by spiking 6-acetylmorphine (6-AM) into human urine pools. Accuracy was evaluated using urine specimens and the results were compared to those from GC/MS. Cross-reactivity with structurally related drugs was assessed at different cross-reactant concentrations. Interferences were assessed in the presence of 7.5 and 12.5 ng/mL of 6-AM. The qualitative repeatability coefficients of variation (CV's) ranged from 0.3% to 0.4% and the within-lab CV's ranged from 2.0% to 2.2%. In analyte units (ng/mL), the repeatability CV's ranged from 1.3% to 2.2% and the within-lab CV's ranged from 2.6% to 4.3%. The limit of detection of the assay was found to be 2.1 ng/mL. Recovery was within 15% of expected value. Linearity was 2.1-20 ng/mL. Method comparison showed 99% agreement with GC/MS. The assay had minimal cross-reactivity with morphine, morphine-3-glucuronide, morphine-6-glucuronide and other opioids. No interference was observed with endogenous interferences and structurally unrelated drugs. The assay correctly classified CAP survey samples. The Emit(?) II Plus 6-Acetylmorphine Assay will be a suitable screening method for urine specimens in both qualitative and semi-quantitative analyses.     

Screening of gunshot residues using desorption electrospray ionisation-mass spectrometry (DESI-MS)

Several studies have indicated that there are potential environmental sources of particles resembling inorganic primer found in gunshot residues (GSR); as a consequence examiners are reluctant to unambiguously assign the origin of inorganic particles. If organic gunshot residues (OGSR) were found in combination with inorganic particles, the possibility of environmental sources could be potentially eliminated, thereby significantly enhancing the strength of the evidence. Methods have been previously described whereby GSR specimens can be analysed for the presence of OGSR or inorganic GRS (IGSR). However, no methods have been reported that allow the analysis of both OGSR and IGSR on the same specimen. Described in this article is a direct method using desorption electrospray ionisation-mass spectrometry (DESI-MS) for the detection of methyl centralite (MC), ethyl centralite (EC) and diphenylamine (DPA) on adhesive tape GSR stubs typically used for scanning electron microscopy-energy-dispersive X-ray (SEM-EDX) analysis. The optimisation of numerous parameters was conducted using an experimental design. The results indicate that direct analysis of these organic components of GSR is possible although some limitations were also identified. This initial investigation has also indicated that subjecting stubs to DESI analysis does not interfere with subsequent SEM-EDX analysis of primer residues; therefore the technique described herein allows a comprehensive examination of GSR that would be highly probative in the event that both OGSR and IGSR are detected in the same specimen.     

Identification process in mass graves from the Spanish Civil War II

The identification process of a mass grave from the Spanish Civil War (1936-1939) is presented. The presumed location of the grave, as well as the presumed number and identities of the persons buried in the grave were obtained exclusively from witnesses' and relatives' testimonies. In agreement with the testimonies, the grave was located at the indicated location and five skeletons were exhumed. Also in agreement with the testimonies, the osteological and DNA study led investigators to propose the identification of two kin groups, a father and his son and a pair of brothers. But the genetic study did not support the identification of a fifth man presumed to have been buried in the grave. The differences and similarities between this case and another case reported earlier are discussed.     

Obesity in Europe: the strategy of the European Union from a public health law perspective

In 2007 the European Commission published a White Paper on a "Strategy on nutrition, overweight and obesity", proposing measures to impede the current trend towards a steady gain in weight by Union citizens. In this article, these ideas are discussed critically in the light of the competences of the Union and from a public health law perspective, in order to scrutinise the effectiveness of the measures and to identify shortcomings in the White Paper. One focus of this article will be European food legislation, as food is one of the leading causes of people being overweight or obese.     

Empathy in sexually sadistic offenders: an experimental comparison with non-sadistic sexual offenders

Previous studies suggest that severe sexual sadism and psychopathy are phenotypically different, although both are characterized by deficits in emotional processing. We assessed empathic capacity in a sample of 12 sexual sadists in comparison with 23 non-sadistic offenders using the Multifaceted Empathy Test (MET). All participants were forensic patients under mandatory treatment orders who had committed sexual offenses. The MET is a computerized rating task that differentiates and measures cognitive and emotional components of empathy, or perspective-taking versus compassionate components. To identify the effects of possible empathy deficits caused by psychopathic traits, we controlled both samples for psychopathy as a covariate, measured by the Psychopathy Checklist-Revised (PCL-R). According to our results, sexual sadists did not differ from non-sadistic sexual offenders with regard to emotional empathy for either positive or negative stimuli. The results suggest that severe sexual sadism is a distinct, pathological sexual arousal response, not a deficit in emotional processing.