DNA genotyping of unbuffered formalin fixed paraffin embedded tissues

Formalin-induced DNA degradation was studied at different fixation times (3, 7, 16 and 32 days) each on 10 formalin fixed paraffin embedded tissues (FFPET) stored for 15 years at room temperature.The four different extraction protocols used in this study showed that Chelex100 extracts performed the best at 3 and 7 days of formalin fixation (DFF) (with regard to the quantity and the quality of the DNA). However, Qiamp extracts showed better results for long sized alleles, as well for single polymerase chain reaction (PCR) amplifications after 16 and 32 DFF, as for multiplex PCR at shorter fixation times. DNA degradation is expressed by the size of the amplified alleles, only 100 bp templates surviving after 32 DFF (AMG locus). Single locus amplifications (CD4 and FES/FPS alleles) performed better than multiplex PCR (ProfilerPlus), with nearly 100% positive results at 7 DFF. In both types of amplifications, the success rate decreased proportionally with the time of formalin fixation and, consequently, with the size of the required DNA template.     

Emergence of an innovative regulation mode in water utilities in France: between commission regulation and franchise bidding

Academic debate on public utility regulation has considerably evolved over the past 50 years. The conflict between the supporters of franchise regulation and commission regulation has given way to much more balanced in-depth analyses. Regulation is defined on the basis of its structure but also its scope and regulation incentives. A regulation mode must above all be evaluated with regard to the institutional environment. We propose a neo-institutionally-inspired analysis framework and show how the dynamic relationship between regulation and the institutional environment can lead to reforms and ultimately to more efficient regulation. The findings of a French water utility sector analysis underline how a series of national normative reforms and local exploratory reforms can give rise to innovations in the regulation mode. This new hybrid regulation, between commission regulation and franchise bidding, could be more effective than previous regulation mode, i.e. more stable and in line with stakeholders’ expectations.     

Tobacco status,impulsivity, and the five-factor of the PANSS in paranoid schizophrenia

There is consistent evidence that impulsivity is linked to tobacco consumption and to symptomatology in schizophrenia. In the current study, we propose a new integrative model of the relationship between impulsivity, psychopathological symptoms, and tobacco status in patients with paranoid schizophrenia. We investigated 33 paranoid schizophrenia patients and 37 healthy controls using a battery of psychopathological scales included the Structured Clinical Interview for DSM-IV (SCID), the five-factor model of the Positive and Negative Symptom Scale (PANSS), the Barratt Impulsiveness Scale (BIS-10), and the UPPS Impulsive Behavior scale (UPPS). Step-wise regression analysis revealed that positive factor of the PANSS and tobacco status contributed positively and significantly to the explained variance of impulsivity. In addition, non-planning impulsivity and sensation-seeking emerged as significant predictors of tobacco status, while smoking predicted non-planning impulsivity and sensation-seeking. Our results suggest that the relationship between sensation-seeking and tobacco use is reciprocal and proposes a new integrative model of the relationship between impulsivity, positive symptoms and tobacco status in patients with paranoid schizophrenia. However, the exact mechanisms for these relationships deserve further investigation.     

False homozygosities at various loci revealed by discrepancies between commercial kits: implications for genetic databases

Routine control of 2055 consecutive genotypes revealed discrepancies between the profiles established with the SGM plus and/or Profiler plus kits on one hand, and the profiles established with the Powerplex16 kit on the other hand. Furthermore, five discrepancies for vWA, three for D8S1179, two for FGA and three for D18S51 loci were found. In 10 cases (loci vWA, FGA, D18S51, D8S1179), the SGM plus and/or Profiler plus profiles showed homozygosity and the Powerplex16 genotype revealed heterozygosities which were confirmed to be true, both by typing with individual primer pairs and DNA sequencing. In four cases (two discrepancies at locus FGA, one at D18S51 and an abnormal paternity pattern for D5S818), the Powerplex16 kit showed apparent homozygosity and the SGM plus and/or Profiler plus kits showed heterozygosity. Mutation analysis could be performed for some of these individuals and evidenced variants, presumably leading to an annealing failure of one primer; the identified mutations are reported. It is suggested that databases should include information about the kits used to determine the profiles while ensuring that the primer sequences are made available.     

An inherited metabolic disorder presenting as ethylene glycol intoxication in a young adult

Despite the abundance of reports emerging in the literature on metabolic disorders, some disorders remain undiagnosed or misdiagnosed, not only in clinical pathology but also in forensic pathology. The authors report a patient who had recurrent episodes characterized by nausea, vomiting, and signs of dehydration necessitating admission to the hospital. At each admission, he was found to have lactic acidosis. On the first admission, glycolic acid was detected in his blood and he was diagnosed as having ethylene glycol intoxication. Only at the third admission, 2 years after the first, was the possibility of an underlying metabolic disorder considered. Laboratory investigations showed a deficiency of complex I in the mitochondrial oxidative phosphorylation. Possible medicolegal implications are discussed.     

Pulmonary embolism: a rare cause of sudden infant death

Pulmonary embolism can be observed at any age, but it occurs very rarely in the infant. The authors report the case of a 12-month-old boy who suddenly died during clinical improvement of gastroenteritis associated with otitis. Autopsy showed signs of dehydration and acute left pulmonary embolism, which was the cause of death. Thrombosis of the inferior vena cava extending into renal veins was seen. In this case, plasma hyperosmolality caused by dehydration might have favored the formation of venous thromboses. The various risk factors of pulmonary embolism in the child are discussed, including genetic factors.     

Attitudes of Senegalese schoolgoing adolescents towards tobacco smoking

Journal of Youth and Adolescence - Results show that tobacco smoking is a widespread phenomenon among Senegalese adolescents for several important reasons: economic (the intensive advertisement...