Genetic variation at 5 new autosomal short tandem repeat markers (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population-based sample from Maghreb region

Aim. To investigate allele distribution and genetic parameters of a population-based sample from Maghreb region. Methods. Allele frequencies for 5 new autosomal short tandem repeat (STR) markers (D10S1248, D22S1045, D2S441, D1S1656, and D12S391) and several forensic parameters were determined for 95 unrelated individuals. Results. The combined power of discrimination and power of exclusion for the 5 loci were high (0.9999991 and 0.9954757, respectively). Allele frequencies were compared with previously published population data. Significant differences were found between Maghreb population and all other populations at the locus D2S441. Also, significant differences were found between the Maghreb and the African American population at the D22S1045, D1S1656, and D12S391 loci, between Maghreb and Caucasian population at the D1S1656 locus, and between Maghreb and Hispanic population at the D22S1045 locus. Conclusions. Typing of the 5 new STR loci may provide a useful addition to the previously established sets of autosomal STRs

Perinatal asphyxia and medical professional liability: A case series

Abstract In the context of medical professional liability, obstetrics is one of the most involved medical specialties because the unfavorable outcome of a pregnancy is difficult to accept for parents, who tend to reduce it to inappropriate care that occurred during pregnancy or birth. 32 cases of perinatal asphyxia were evaluated by the Institute of Forensic Medicine in Brescia during the period between 1999 and 2014 (13 in Civil Court and 19 in Penal Court). 9 out of the 32 pregnancies were twins, so the considerations were carried out on a total of 41 fetuses/newborns. Profiles of inadequacy were identified in 66% of cases (85% of the cases evaluated in Civil Court; 53% of the cases evaluated in Penal Court). The existence of a causal relationship between the medical conduct and the onset of asphyxia was recognized in 79% of civil cases and in 38% of penal cases. There is a "greater rigor" in the verification of causal relationship and malpractice profiles in penal cases compared to civil ones: this is in harmony with the most recent Italian Court decisions, characterized by compelling suspect's protection in the presence of a reasonable doubt in criminal matters and by victim's protection in civil ones

Standard of care and guidelines in prevention and diagnosis of venous thromboembolism: medico-legal implications

Concerning recent Italian laws and jurisprudential statements, guidelines application involves several difficulties in clinical practice, regarding prevention, diagnosis and therapy of venous thromboembolism. International scientific community systematically developed statements about this disease in order to optimize the available resources in prophylaxis, diagnosis and therapy. Incongruous prevention, missed or delayed diagnosis and/or inadequate treatment of this disease can frequently give rise to medico-legal litigation

The Effect of Spironolactone on the Pathogenesis of Ligatureinduced Alveolar Bone Loss in Wistar Rats

Tumor necrosis factor (TNF) is a pro-inflammatory cytokine that has a straight relationship with tissue  destruction in the pathogenesis of periodontitis. Inhibitory effects of TNF production have been attributed  to spironolactone. The aim of this study was to evaluate the effect of spironolactone on the pathogenesis of  ligature-induced alveolar bone loss in rats. Experimental periodontitis was induced in 38 Wistar rats by ligature  placement in the left second maxillary molar. The contra-lateral maxillary molar served as intragroup  control. Animals were randomly divided into 4 groups and treated with spironolactone (50, 100, 200  mg·kg-1) or saline. Morphometrical registration of maxillary alveolar bone was performed after 28 days of  experimental periodontitis. Intra-group comparisons showed significantly higher alveolar bone loss mean  values in maxillary sides with ligature (paired sample t test, p<0.05). Mean alveolar bone loss was not significantly  different between groups, independently of the dosage (range: 0.63 – 0.66 mm, one-way  ANOVA, p>0.05). Although spironolactone has recognized TNF-inhibitory properties, the possibility of its  use on modulation of host immune-inflammatory response in periodontal disease was not confirmed.

PowerPlex® Fusion 6C System: evaluation study for analysis of casework and database samples

Aim To report on the successful analysis of amplicons obtained with PowerPlex® Fusion 6C System, a highly robust 27-plex genotyping kit developed for human identification laboratories, on the Applied Biosystems® 3500 Genetic Analyzer. Method We performed characterization and evaluation studies following the Scientific Working Group on DNA Analysis Methods (SWGDAM) validation guidelines, examining several critical areas of kit performance. We report the results of sensitivity, robustness, heterozygous peak height ratio, precision, concordance, caseworks, and mixture interpretations. We tested sensitivity, using serial dilutions of control DNA. Results The minimum amount of input DNA resulting in a full profile was 125 pg. Inhibition, inducted by urea, showsed a progressively fragmentation of DNA and a full profile was obtained until 1M of inhibitor factor. To test the profile quality, casework samples were extracted with different extraction methods: Chelex®100, QIAmp DNA Micro Kit and Phenol-Chloroform extraction. The results demonstrated that extraction chemistries do not have affect on amplification performance. Concordance check was performed by typing some casework samples and comparing the typing results with those obtained with other available kits. Thus, concordance was expected and supported by the data. Conclusion Reliable DNA typing results can be obtained using this new kit, demonstrating its effectiveness and utility in forensic analysis

Malpractice claims related to recurrent laryngeal nerve injury: Forensic remarks regarding 15 cases

Abstract Malpractice claims concerning recurrent laryngeal nerve (RLN) injuries are often related to thyroid surgery, but they can also involve surgeons of different specialties. Our survey was made considering expert opinions on claims for medical malpractice evaluated at Brescia Institute of Forensic Medicine in Italy during the period 1992–2012. Fifteen cases concerned RLN injury. Malpractice was identified in 10 cases, according to the following conditions: low pre and intra-operative risk of nerve injury, no documentation showing that the nerve was isolated and preserved despite the existence of potential risk factors. An accurate, well written and complete surgical report is the main tool for the expert examination in malpractice claims

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

BACKGROUND: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis. Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type 1 (RHUC1), whereas renal hypouricemia type 2 (RHUC2) is caused by mutations in the SLC2A9 gene. CASE PRESENTATION: We describe a 24-year-old Pakistani man who was admitted twice to our hospital for severe exercise-induced acute renal failure (EIARF), abdominal pain and fever; he had very low serum UA levels (0.2 mg/dl the first time and 0.09 mg/dl the second time) and high FE-UA (200% and 732% respectively), suggestive of RHUC. Mutational analyses of both urate transporters revealed a new compound heterozygosity for two distinct missense mutations in the SLC2A9 gene: p.Arg380Trp, already identified in heterozygosity, and p.Gly216Arg, previously found in homozygosity or compound heterozygosity in some RHUC2 patients. Compared with previously reported patients harbouring these mutations, our proband showed the highest FE-UA levels, suggesting that the combination of p.Arg380Trp and p.Gly216Arg mutations most severely affects the renal handling of UA. CONCLUSIONS: The clinical and molecular findings from this patient and a review of the literature provide new insights into the genotype-phenotype correlation of this disorder, supporting the evidence of an autosomal recessive inheritance pattern for RHUC2. Further investigations into the functional properties of GLUT9, URAT1 and other urate transporters are required to assess their potential research and clinical implications

Application of alternative fixatives to formalin in diagnostic pathology

Fixation is a critical step in the preparation of tissues for histopathology. The aim of this study was to investigate the effects of different fixatives vs formalin on proteins and DNA, and to evaluate alternative fixation for morphological diagnosis and nucleic acid preservation for molecular methods. Forty tissues were fixed for 24 h with six different fixatives: the gold standard fixative formalin, the historical fixatives Bouin and Hollande, and the alternative fixatives Greenfix, UPM and CyMol. Tissues were stained (Haematoxylin-Eosin, Periodic Acid Schiff, Trichromic, Alcian-blue, High Iron Diamine stainings), and their antigenicity was determined by immunohistochemistry (performed with PAN-CK, CD31, Ki-67, S100, CD68, AML antibodies). DNA extraction, KRAS sequencing, FISH for CEP-17, and flow cytometry analysis of nuclear DNA content were applied. For cell morphology the alternative fixatives (Greenfix, UPM, CyMol) were equivalent to formalin. As expected, Hollande proved to be the best fixative for morphology. The morphology obtained with Bouin was comparable to the one with formalin. Hollande was the best fixative for histochemistry. Bouin proved to be equivalent to formalin. The alternative fixatives were equivalent to formalin, although with greater variability in haematoxylin-eosin staining. It proved the possibility to obtain immunohistochemical staining largely equivalent to that following formalin-fixation with the following fixatives: Greenfix, Hollande, UPM and CyMol. The tissues fixed in Bouin did not provide results comparable to those obtained with formalin. The DNA extracted from samples fixed with alternative fixatives was found to be suitable for molecular analysis

Use of information technology for traceability and quality control: Case study in a Brazilian winery

Food safety and quality are current demands from consumers and markets, which ends up being reflected in the wine sector and throughout its chain. However, they can pose operational challenges, especially for small or medium-sized wineries. This study aims to develop the traceability of the grape used in wine production supported by information technology in a winery situated in Garibaldi, RS, Brazil. The study was carried out in three phases: protocol development, implementation of an information system and evaluation of the results, identifying opportunities and barriers. A standard protocol for the grapes traceability was developed, considering data from grape cultivation, delivered grape quality assessment and grape processing control parameters until bottling. Demetra software was deployed, developed by Elysios. The implementation of traceability and the information system will be a step towards obtaining international certifications. The study contributes to bringing international standards of food safety and quality to the Brazilian context. In this sense, the study contributes to expanding the applied knowledge on the field and to support professionals and wineries in the development of strategies for the implementation of traceability systems