A study was conducted to determine if modern forensic DNA typing methods can be properly employed throughout the world with a final goal of increasing arrests, prosecutions, and convictions of perpetrators of modern day trafficking in persons while concurrently reducing the burden of victim testimony in legal proceedings. Without interruption of investigations, collection of samples containing DNA was conducted in a variety of settings. Evidentiary samples were analyzed on the ANDE Rapid DNA system. Many of the collected swabs yielded informative short tandem repeat profiles with Rapid DNA technology.
To genotype and evaluate a panel of single-nucleotide polymorphisms for individual identification (IISNPs) in three Chinese populations: Chinese Han, Uyghur, and Tibetan.
Two previously identified panels of IISNPs, 86 unlinked IISNPs and SNPforID 52-plex markers, were pooled and analyzed. Four SNPs were included in both panels. In total, 132 SNPs were typed on Sequenom MassARRAY® platform in 330 individuals from Han Chinese, Uyghur, and Tibetan populations. Population genetic indices and forensic parameters were determined for all studied markers.
No significant deviation from Hardy-Weinberg equilibrium was observed for any of the SNPs in 3 populations. Expected heterozygosity (He) ranged from 0.144 to 0.500 in Han Chinese, from 0.197 to 0.500 in Uyghur, and from 0.018 to 0.500 in Tibetan population. Wright's Fst values ranged from 0.0001 to 0.1613. Pairwise linkage disequilibrium (LD) calculations for all 132 SNPs showed no significant LD across the populations (r2<0.147). A subset of 58 unlinked IISNPs (r2<0.094) with He>0.450 and Fst values from 0.0002 to 0.0536 gave match probabilities of 10−25 and a cumulative probability of exclusion of 0.999992.
The 58 unlinked IISNPs with high heterozygosity have low allele frequency variation among 3 Chinese populations, which makes them excellent candidates for the development of multiplex assays for individual identification and paternity testing.
To establish the allele distribution and statistical parameters of forensic interest for the D10S1248, D22S1045, D2S441, D1S1656, D12S391, and SE33 loci in Slovenian population and to compare allele frequencies with those from other populations.
We analyzed blood and buccal swab samples from 333 unrelated, healthy Slovenian individuals. All samples were genotyped using the AmpFlSTR NGM Kit to obtain the allele frequency data for the loci D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Samples from 113 individuals were also analyzed using the PowerPlex ESX 17 system to obtain the allele frequency data for the SE33 locus. Allele frequencies and statistical parameters of forensic interest were determined and frequency profiles compared between Slovenian and other European Caucasian populations using the Arlequin software, version 126.96.36.199.
The investigated short tandem repeat (STR) loci in Slovenian population had a great discriminating potential with a combined discrimination power of 0.99999998. The highest discrimination power and polymorphism information content were observed for the SE33 locus, followed by loci D1S1656, D12S391, D10S1248, D2S441, and D22S1045. When Slovenian allele frequency distribution was compared with other European populations, deviations were found only for Spanish and Italian population for D2S441 and D12S391.
Slovenian population does not differ significantly from other European populations in terms of allele frequency distributions for the six analyzed STR loci. Based on forensic efficiency values, SE33 may be considered the most informative locus, which makes it especially useful in forensic investigations.
To compare the reliability of short and long cytochrome oxidase I gene fragment (COI) in identification of forensically important Diptera from Egypt and China.
We analyzed 50 specimens belonging to 18 species. The two investigated markers were amplified by polymerase chain reaction (PCR) followed by direct sequencing. Nucleotide sequence divergences were calculated using the Kimura two-parameter (K2P) distance model and neighbor-joining (NJ) phylogenetic trees.
Although both tested fragments showed an overlap between intra and interspecific variations, long marker had greater completeness of monophyletic separation with high bootstrap support. Moreover, NJ tree based on the long fragment clustered species more in accordance with their taxonomic classification than that based on the short fragment.
In dipterous identification, it is recommended to use the long COI marker due to its greater reliability and safety.
To determine the association between the number of thymine-adenine (TA)n dinucleotide repeats in the promoter region of the gene coding for the estrogen receptor alpha (ESR1) and the prevalence of lone atrial fibrillation (AF) in men.
We conducted a case-control study involving 89 men with lone AF and 166 healthy male controls. The ESR1 genotype was established by polymerase chain reaction and capillary electrophoresis. To assess the association of ESR1 genotype with AF, logistic regression models were built with AF as outcome.
Men with lone AF had significantly greater number of (TA)n repeats of single alleles than controls (mean ± standard deviation, 19.2 ± 4.2 vs 18 ± 4.3, P = 0.010). After adjustment for other factors, a unit-increase in (TA)n repeat number was associated with a significantly greater likelihood of AF (odds ratio 1.069; 95% confidence interval 1.024-1.116, P = 0.002).
Our results indicate that a greater number of (TA)n repeats in the promoter region of ESR1 is associated with a significantly increased likelihood of lone atrial fibrillation in men.
To investigate the survival of laboratory rats after irradiation and to study the cellularity of their bone marrow and the multipotential mesenchymal stem cells (BM-MSCs) in groups treated with or without a new thiol-based radioprotector (GM2011)
Animals were irradiated by a Cobalt gamma source at 6.7 Gy. Treated animals were given i.p. GM2011 30 minutes before and 3 and 7 hours after irradiation. Controls consisted of sham irradiated animals without treatment and animals treated without irradiation. After 30 days post-irradiation, animals were sacrificed and bone marrow cells were prepared from isolated femurs. A colony forming unit-fibroblast (CFU-F) assay was performed to obtain the number of BM-MSCs.
In the treated group, 87% of animals survived, compared to only 30% in the non-treated irradiated group. Irradiation induced significant changes in the bone marrow of the treated rats (total bone marrow cellularity was reduced by ~ 60% – from 63 to 28 cells ×106/femur and the frequency of the CFU-F per femur by ~ 70% – from 357 to 97), however GL2011 almost completely prevented the suppressive effect observed on day 30 post-irradiation (71 cells ×106/femur and 230 CFU-F/femur).
Although the irradiation dosage was relatively high, GL2011 acted as a very effective new radioprotector. The recovery of the BN-MSCs and their counts support the effectiveness of the studied radioprotector.
To analyze mistakes and misconduct in multidisciplinary and specialized biomedical journals.
We conducted searches through PubMed to retrieve errata, duplicate, and retracted publications (as of January 30, 2014). To analyze publication activity and citation profiles of countries, multidisciplinary, and specialized biomedical journals, we referred to the latest data from the SCImago Journal & Country Rank database. Total number of indexed articles and values of the h-index of the fifty most productive countries and multidisciplinary journals were recorded and linked to the number of duplicate and retracted publications in PubMed.
Our analysis found 2597 correction items. A striking increase in the number of corrections appeared in 2013, which is mainly due to 871 (85.3%) corrections from PLOS One. The number of duplicate publications was 1086. Articles frequently published in duplicate were reviews (15.6%), original studies (12.6%), and case reports (7.6%), whereas top three retracted articles were original studies (10.1%), randomized trials (8.8%), and reviews (7%). A strong association existed between the total number of publications across countries and duplicate (rs = 0.86, P < 0.001) and retracted items (rs = 0.812, P < 0.001). A similar trend was found between country-based h-index values and duplicate and retracted publications.
The study suggests that the intensified self-correction in biomedicine is due to the attention of readers and authors, who spot errors in their hub of evidence-based information. Digitization and open access confound the staggering increase in correction notices and retractions.
This article overviews evidence on common instances of conflict of interest (COI) in research publications from general and specialized fields of biomedicine. Financial COIs are viewed as the most powerful source of bias, which may even distort citation outcomes of sponsored publications. The urge to boost journal citation indicators by stakeholders of science communication is viewed as a new secondary interest, which may compromize the interaction between authors, peer reviewers, and editors. Comprehensive policies on disclosure of financial and non-financial COIs in scholarly journals are presented as proxies of their indexing in evidence-based databases, and examples of successful medical journals are discussed in detail. Reports on clinical trials, systematic reviews, meta-analyses, and clinical practice guidelines may be unduly influenced by author-pharmaceutical industry relations, but these publications do not always contain explicit disclosures to allow the readers to judge the reliability of the published conclusions and practice-changing recommendations. The article emphasizes the importance of adhering to the guidance on COI from learned associations such as the International Committee of Medical Journal Editors (ICMJE). It also considers joint efforts of authors, peer reviewers, and editors as a foundation for appropriately defining and disclosing potential COIs.
We describe a case of a post vaccine immune complex-mediated glomerulonephritis in an infant with compound heterozygous mutations of C2 complement component gene, which is the first such case in the literature. The three and a half months old boy presented with clinical and laboratory signs of nephritic syndrome and was successfully treated with methylprednisolone. An explanation of such a clinical picture may lie in the interaction between C2 deficiency and vaccination.
To estimate the burden of colorectal cancer (CRC) in South East Asia.
We reviewed the evidence from the published literature found through a systematic review in Medline, Embase, and Global Health and from unpublished data on cancer registries, which were sourced from the International Agency for Research on Cancer. Incidence rates were summarized by calculating descriptive statistics and meta-analysis estimates.
The crude mean incidence of CRC in South East Asia for both sexes was 6.95/100 000 population and the incidence increased with age. The crude meta-analysis estimate was 6.12/100 000 population (95% confidence interval 5.64-6.60/100 000) and the number of new CRC cases for 2000 was 32 058 (29 544-34 573).
The rates of CRC in South East Asia were much lower than those reported for high-income countries, but higher than those reported for Sub Saharan Africa.
To estimate global morbidity from acute bacterial meningitis in children.
We conducted a systematic review of the PubMed and Scopus databases to identify both community-based and hospital registry-based studies that could be useful in estimation of the global morbidity from bacterial meningitis in children. We were primarily interested in the availability and quality of the information on incidence rates and case-fatality rates. We assessed the impact of the year of study, study design, study setting, the duration of study, and sample size on reported incidence values, and also any association between incidence and case-fatality rate. We also categorized the studies by 6 World Health Organization regions and analyzed the plausibility of estimates derived from the current evidence using median and inter-quartile range of the available reports in each region.
We found 71 studies that met the inclusion criteria. The only two significant associations between the reported incidence and studied covariates were the negative correlation between the incidence and sample size (P < 0.001) and positive correlation between incidence and case-fatality rate (P < 0.001). The median incidence per 100 000 child-years was highest in the African region – 143.6 (interquartile range [IQR] 115.6-174.6), followed by Western Pacific region with 42.9 (12.4-83.4), the Eastern Mediterranean region with 34.3 (9.9-42.0), South East Asia with 26.8 (21.0-60.3), Europe with 20.8 (16.2-29.7), and American region with 16.6 (10.3-33.7). The median case-fatality rate was also highest in the African region (31.3%). Globally, the median incidence for all 71 studies was 34.0 (16.0-88.0) per 100 000 child-years, with a median case-fatality rate of 14.4% (5.3%-26.2%).
Our study showed that there was now sufficient evidence to generate improved and internally consistent estimates of the global burden of acute bacterial meningitis in children. Although some of our region-specific estimates are very uncertain due to scarcity of data from the corresponding regions, the estimates of morbidity and case-fatality from childhood bacterial meningitis derived from this study are consistent with mortality estimates derived from multi-cause mortality studies. Both lines of evidence imply that bacterial meningitis is a cause of 2% of all child deaths.
Mitochondrial DNA depletion syndromes are a group of autosomal recessive hereditary disorders characterized by reduction of the amount of mitochondrial DNA in the affected tissue (muscle, liver, brain, or kidneys). We report a case of an infant with myopathy, deafness, peripheral neuropathy, nephrocalcinosis, proximal renal tubulopathy, moderate lactic acidosis, and a novel mutation of the RRM2B gene.
To determine the association of carotid atherosclerosis and right ventricular diastolic dysfunction (DD) among treated hypertensive Nigerian patients.
This was a single center cross-sectional study performed at the Cardiology Clinic of LAUTECH Teaching Hospital, Ogbomoso, Nigeria between January and December 2012. The study included 122 hypertensive Nigerians (mean age, 57.3 ± 14.7 years, 36.9% women). Patients’ clinical, demographic, and echocardiographic parameters were obtained. Diastolic dysfunction was assessed with the trans-tricuspid Doppler flow.
Patients with DD were significantly older than those with normal diastolic function. Mean and maximum carotid intima media thickness measurements were significantly higher among patients with right ventricular DD than in those with normal diastolic function. Mean systolic blood pressure (148.3 ± 31.9 vs 128.0 ± 2.8 mm Hg, P = 0.049) and interventricular septal thickness in diastole (12.8 ± 2.3 vs 11.6 ± 2.8mm, P = 0.048) were significantly higher and tricuspid annular pulmonary systolic excursion (33.6 ± 4.9 vs 23.0 ± 4.2 mm, P = 0.035) was significantly lower in patients with right ventricular DD than in those with normal diastolic function. Carotid intima media thickness measurements were correlated with early trans-tricuspid Doppler flow and early transtricuspid diastolic flow/late right atrial transtricupsid diastolic flow ratio.
Right ventricular DD in hypertensive patients was significantly correlated with increased carotid atherosclerosis. Carotid intima media thickness measurements may therefore be a surrogate marker for DD in hypertensive subjects.