Study of InDel genetic markers with forensic and ancestry informative interest in PALOP’s immigrant populations in Lisboa

The migratory phenomenon in Portugal has become one of the main factors for the genetic variability. In the last few years, a new class of autosomal insertion/deletion markers—InDel—has attracted interest in forensic genetics. Since there is no data for InDel markers of Portuguese-speaking African countries (PALOP) immigrants living in Lisboa, our aim is the characterization of those groups of individuals by typing them with at least 30 InDel markers and to compare different groups of individuals/populations. We studied 454 bloodstain samples belonging to immigrant individuals from Angola, Guinea-Bissau, and Mozambique. DNA extraction was performed with the Chelex® 100 method. After extraction, all samples were typed with the Investigator® DIPplex method. Through the obtained results, allelic frequencies show that all markers are at Hardy-Weinberg equilibrium, and we can confirm that those populations show significant genetic distances between themselves, between them, and the host Lisboa population. Because of this, they introduce genetic variability in Lisboa population.

     

Classifying individuals with and without patellofemoral pain syndrome using ground force profiles – Development of a method using functional data boosting

BackgroundPredictors of recovery in patellofemoral pain syndrome (PFPS) currently used in prognostic models are scalar in nature, despite many physiological measures originally lying on the functional scale. Traditional modelling techniques cannot harness the potential predictive value of functional physiological variables.Research questionWhat is the classification performance of PFPS status of a statistical model when using functional ground reaction force (GRF) time-series?MethodsThirty-one individuals (control = 17, PFPS = 14) performed maximal countermovement jumps, on two force plates. The three-dimensional components of the GRF profiles were time-normalized between the start of the eccentric phase and take-off, and used as functional predictors. A statistical model was developed using functional data boosting (FDboost), for binary classification of PFPS statuses (control vs PFPS). The area under the Receiver Operating Characteristic curve (AUC) was used to quantify the model’s ability to discriminate the two groups.ResultsThe three predictors of GRF waveform achieved an average out-of-bag AUC of 93.7 %. A 1 % increase in applied medial force reduced the log odds of being in the PFPS group by 0.68 at 87 % of jump cycle. In the AP direction, a 1 % reduction in applied posterior force increased the log odds of being classified as PFPS by 1.10 at 70 % jump cycle. For the vertical GRF, a 1 % increase in applied force reduced the log odds of being classified in the PFPS group by 0.12 at 44 % of the jump cycle.SignificanceUsing simple functional GRF variables collected during functionally relevant task, in conjunction with FDboost, produced clinically interpretable models that retain excellent classification performance in individuals with PFPS. FDboost may be an invaluable tool to be used in longitudinal cohort prognostic studies, especially when scalar and functional predictors are collected.     

Multi-slice computed tomography (MSCT) of mountaineering casualties in the Swiss Alps – Advantages and limitations

As an Alpine country, Switzerland has not only a thriving mountaineering tourist industry, but also many mountaineering casualties. At the request of the state attorney, most of the victims undergo only an external inspection without autopsy. One of the main tasks of the forensic pathologist under these circumstances is the correct identification of the deceased for a fast release to their kin. Nevertheless, detailed knowledge of the injuries sustained may lead to improved safety measures, such as better protective equipment.In this study, we examined the feasibility of using cross-sectional imaging with postmortem multi-slice computed tomography (MSCT) to detect lesions of the skeletal structures and internal organs. For this purpose, we used whole-body MSCT to examine 10 corpses that suffered fatal falls from great height while climbing in the Swiss part of the European Alps from the years 2007 to 2009.We conclude that postmortem CT imaging is a valuable tool for dental identification and is superior to plain X-rays as a viable compromise between a solely external legal inspection and an autopsy because it delivers otherwise irretrievable additional internal findings non-invasively. This fact is of great importance in cases where an autopsy is refused.     

Genetic diversity and forensic parameters of autosomal STR markers included PowerPlex® CS7 panel in the general population of the Russian Federation

PowerPlex® CS7 multiplex is commonly used as a source of supplementary markers in parentage and kinship studies. We analysed a total of 687 unrelated individuals from 94 geographically different localities across all Federal Districts of the Russian Federation and provide forensically important parameters and allele frequencies. The paper also presents results of an intra-population genetic diversity study between the populations of the Federal Districts and comparison with populations from various regions of the world.     

Symptom response following acute bouts of exercise in concussed and non-concussed individuals – A systematic narrative review

BackgroundAthletes suspected of being concussed are frequently evaluated on the side-line for self-reported symptoms which guide subsequent management and return-to-play decisions. Concussion-like symptoms have been shown to be influenced by prior participation in physical activity; however, the potential contribution of acute exercise on symptoms is not well understood.ObjectiveThe purpose of this study was to systematically review the literature in order to further understand the acute effects of exercise on documented self-reported symptoms in both concussed and non-concussed individuals.DesignSystematic narrative review.MethodsNine electronic databases were systematically searched using keywords and MeSH terms that included; self-reported symptoms, sports-related concussion, brain concussion, exercise and athletic injuries. In addition, an extensive search of the grey literature was conducted.ResultsOf the 785 articles retrieved, only five met the inclusion criteria comprising a total of 295 concussed and non-concussed participants. In general, the mean symptom scores increased from pre-exercise to post-exercise levels immediately following acute bouts of exercise in both concussed and non-concussed individuals.ConclusionAlthough the symptom scores increased following exercise in both concussed and non-concussed participants, this increase was only maintained for a relatively short duration. Thus, the application to real world situation is still to be established.     

Genetic data of 22 autosomal STR loci in Khyber-Pakhtunkhwa,Balochistan and Gilgit Baltistan population of Pakistan using PowerPlex® fusion system

In this study we have provided forensic genetic data of 22 autosomal STRs for Pakhtun, Balochi and Balti population of Pakistan in total of 601 samples. Among these loci, Penta E was found the most discriminatory in all groups and allele 15 was observed most frequent at D22S1045 in Balti whereas in other two populations allele 8 was more common at TPOX. The combined power of discrimination, combined power of exclusion and the combined matching probability was calculated as 0.999999999999999999999999998385, 0.999999988089728 and 1.615 × 10^-27 respectively. Based on population differentiation test, significant differences were observed when compared with other populations however, phylogenetic analysis revealed close genetic associations among Pakistani Populations.     

Benefits of β-hydroxy-β-methylbutyrate supplementation in trained and untrained individuals

ABSTRACT

β-Hydroxy-β-Methylbutyrate (HMB) is a metabolite of the branched-chain amino acid leucine and its ketoacid α-ketoisocaproate. HMB has been widely used as an ergogenic supplement to increase muscle strength, muscle hypertrophy and enhance recovery. The physiological mechanisms that underlie these benefits are related to HMB’s ability to stimulate muscle protein synthesis and minimize muscle breakdown. Although evidence supporting the benefits of HMB supplementation is not conclusive, many of these studies have suffered from methodological flaws including different formulations, supplement duration and population studied. HMB in its free acid formulation is suggestive of having a greater potential for efficacy in both trained and untrained populations than its calcium-salt form. However, the evidence regarding HMB’s role in limiting muscle degradation and increasing muscle protein synthesis has created an exciting interest in examining its efficacy among untrained individuals. Recent investigations examining intense training have demonstrated efficacy in maintaining muscle mass and attenuating the inflammatory response.     

A case of an infant suffered from a fatal scald injury – Validity and limitations of postmortem CT imaging

A 9 months-old infant has died of scald burn by the hot water from the fallen electric pot at home. Postmortem computed tomography (CT) scanning prior to autopsy contributed to exclude the possibilities of old and new bone fractures or hidden massive hemorrhages. This procedure helped the pathologists to avoid dissecting all the extremities, which is time-consuming, laborious and often hurtful to the innocent parents of the deceased. On the other hand it did not successfully show the distribution of the scald burn injury on the skin, which reminded us of the importance of external examination even when the whole-body CT is performed. The manner of death was considered to be accident since the cause of death was burn shock and there was no significant evidence suggesting child abuse. Scene investigation and reproductive experiment have revealed that there was a structural problem in the lid of the pot, which comes off very easily in a certain condition. In order to prevent a similar accident, report of the case to the manufacturer is essential for the improvement of the apparatus. This case, however, has been remained to be unreported because of the confidentiality of the investigative information in judicial autopsy. Finally, we recommend a partial revision of the reporting system in Japan to prevent the recurrence of such tragic accidents.     

Evaluation of forensic genetic efficiency parameters of 22 autosomal STR markers (PowerPlex® Fusion system) in a population sample of Arab descent from Jordan

Jordan is a country located in the Middle East, on the East Bank of the Jordan River. In this study, the PowerPlex® Fusion (PPF) system was used to determine the allele frequencies and forensic efficiency parameters of 22 autosomal STR loci. Autosomal STR information was collected from the blood samples of 500 individuals belonging to the Jordanian population of Arab descent. The PPF system (Promega Corporation) was used to amplify the 22 autosomal STRs and the amplified samples were analysed on the 3130xl Genetic Analyser using GeneMapper ID-X 1.2 software (Applied Biosystems). All the autosomal STR loci met the requirements of the Hardy-Weinberg equilibrium after Bonferroni correction. This study revealed that the most informative locus among the 22 STR loci (excluding Amelogenin and DYS39) was Penta E locus (power of discrimination (PD) = 0.99), while the least informative locus was TPOX locus (PD = 0.834). The combined matching probability (MP) of the 22 loci was 1.9 × 10^?28. These forensic genetic parameters indicated the practicality of analysing these 22 STRs in forensic DNA identification and paternity testing among individuals from the Jordanian Arab population.     

Allele frequencies of 31 autosomal short tandem repeat (auSTR) loci obtained using the Precision ID GlobalFiler™ NGS STR Panel v2 in 322 individuals from the Japanese population

In human identification methods that target short tandem repeats (STRs), massively parallel sequencing (MPS) technology has made it possible to genotype at the level of the specific sequence itself. This allows for the detection of repeat unit variants and single nucleotide polymorphisms (SNPs) adjacent to the STRs. Using the GlobalFiler™ NGS STR Panel v2, Ion S5, and Converge software, this study constructed a Japanese database of 31 autosomal STRs (auSTRs) and two sex markers from 322 individuals. After excluding some sequence errors and stutters, a total of 31 novel alleles were identified. Additionally, using the allele frequencies of 31 auSTR loci, the match probabilities for the length-based and sequence-based data were calculated to be 1.433 × 10⁻³⁴ and 9.163 × 10⁻³⁸, respectively. These values are at least nine orders of magnitude higher than that obtained from 21 auSTR loci in the Japanese population using the conventional capillary electrophoresis method. The database generated in this study is expected to be implemented in forensic practice and used to solve difficult casework.     

Side does not matter in healthy young and older individuals – Examining the importance of how we match limbs during gait studies

Background: Various methods exist when comparing gait data between groups and include the analysis of a single limb, or taking an average of both limbs. Evidence exists suggesting that both limbs are not symmetrical, so statistical differences may exist in biomechanical variables when comparing gait with different limb-matching methods.Research question: Does limb-matching method have an effect on statistical outcome when comparing biomechanical variables during a gait task?Methods: This retrospective study compared forty participants separated into a younger and older group as they completed a gait task. Twenty-five commonly used biomechanical variables were compared between the two groups using four different limb-matching methods: (i) average of both limbs; (ii) dominant limb; (iii) non-dominant limb; (iv) random limb. A mixed linear model was used to compare all the biomechanical variables between the younger and older group using the different limb-matching methods.Results: Limb-matching methods only had a significant effect for 1/25 variables examined. Group effects between the younger and older groups were more prevalent, with the most significant effects occurring at the ankle joint.Significance: Limb-matching methods do not have a direct effect on biomechanical outcomes when comparing gait in healthy young and old groups. Gait is cyclical, so limb symmetry is often assumed. However, if the complexity of the task increases, or when comparing against groups with impaired gait, both limbs may behave differently, so limb-matching method may become more crucial.     

Allele frequencies and other forensic parameters of the HID-Ion AmpliSeq™ Identity Panel markers in Basques using the Ion Torrent PGM™ platform

The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74 × 10⁻³⁶ for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field.     

Classifying neck pain status using scalar and functional biomechanical variables – development of a method using functional data boosting

BackgroundIndividuals with neck pain have different movement and muscular activation (collectively termed as biomechanical variables) patterns compared to healthy individuals. Incorporating biomechanical variables as covariates into prognostic models is challenging due to the high dimensionality of the data.Research questionWhat is the classification performance of neck pain status of a statistical model which uses both scalar and functional biomechanical covariates?MethodsMotion capture with electromyography assessment on the sternocleidomastoid, splenius cervicis, erector spinae, was performed on 21 healthy and 26 individuals with neck pain during walking over three gait conditions (rectilinear, curvilinear clockwise (CW) and counterclockwise (CCW)). After removing highly collinear variables, 94 covariates across the three conditions were used to classify neck pain status using functional data boosting (FDboost).ResultsTwo functional covariates trunk lateral flexion angle during CCW gait, and trunk flexion angle during CW gait; and a scalar covariate, hip jerk index during CCW gait were selected. The model achieved an estimated AUC of 80.8 %. For hip jerk index, an increase in hip jerk index by one unit increased the log odds of being in the neck pain group by 0.37. A 1° increase in trunk lateral flexion angle throughout gait alone reduced the probability of being in the neck pain group from 0.5 to 0.15. A 1° increase in trunk flexion angle throughout gait alone increased the probability of being in the neck pain group from 0.5 to 0.9.SignificanceInterpreting the physiological significance of the extracted covariates, with other biomechanical variables, suggests that individuals with neck pain performed curvilinear walking using a stiffer strategy, compared to controls; and this increased the risk of being in the neck pain group. FDboost can produce clinically interpretable models with complex high dimensional data and could be used in future prognostic modelling studies in neck pain research.     

Diagnosis of pancreatic cancer using fluorine-18 fluorodeoxyglucose positron emission tomography (FDG PET) —Usefulness and limitations in “clinical reality”—

The present review will provide an overview of the literature concerning the FDG PET diagnosis of pancreatic cancer and a summary from our experience of 231 cases of pancreatic lesions. FDG PET can effectively differentiate pancreatic cancer from benign lesion with high accuracy. Newly-developed PET scanners can detect small pancreatic cancers, up to 7 mm in diameter, by their high resolution, which could make a great contribution to the early detection of resectable and potentially curable pancreatic cancers. FDG PET is useful and cost-beneficial in the pre-operative staging of pancreatic cancer because an unexpected distant metastasis can be detected by whole-body PET in about 40% of the cases, which results in avoidance of unnecessary surgical procedures. FDG PET is also useful in evaluation of the treatment effect, monitoring after the operation and detection of recurrent pancreatic cancers. However, there are some drawbacks in PET diagnosis. A relatively wide overlap has been reported between semiquantitative uptake values obtained in cancers and those in inflammatory lesions. As for false-positive cases, active and chronic pancreatitis and autoimmune pancreatitis sometimes show high FDG accumulation and mimic pancreatic cancer with a shape of focal uptake. There were 8 false negative cases in the detection of pancreatic cancer by FDG PET, up to 33 mm in diameter, mainly because of their poor cellularity in cancer tissues. In addition, there are 19% of cancer cases with a decline in FDG uptake from 1 hr to 2 hr scan. FDG PET was recently applied to and was shown to be feasible in the differential diagnosis of cystic pancreatic lesions, such as intraductal papillary mucinous tumor of the pancreas. Further investigations are required to clarify the clinical value of FDG PET in predicting prognosis of the pancreatic patients.     

Predicting eye and hair colour in a Norwegian population using Verogen’s ForenSeq™ DNA signature prep kit

Prediction of eye and hair colour from DNA can be an important investigative tool in forensic cases if conventional DNA profiling fails to match DNA from any known suspects or cannot obtain a hit in a DNA database. The HIrisPlex model for simultaneous eye and hair colour predictions was developed for forensic usage. To genotype a DNA sample, massively parallel sequencing (MPS) has brought new possibilities to the analysis of forensic DNA samples. As part of an in-house validation, this study presents the genotyping and predictive performance of the HIrisPlex SNPs in a Norwegian study population, using Verogen’s ForenSeq™ DNA Signature Prep Kit on the MiSeq FGx system and the HIrisPlex webtool. DNA-profiles were successfully typed with DNA input down to 125 pg. In samples with DNA input < 125 pg, false homozygotes were observed with as many as 92 reads. Prediction accuracies in terms of AUC were high for red (0.97) and black (0.93) hair colours, as well as blue (0.85) and brown (0.94) eye colours. The AUCs for blond (0.72) and brown (0.70) hair colour were considerably lower. None of the individuals was predicted to have intermediate eye colour. Therefore, the error rates of the overall eye colour predictions were 37% with no predictive probability threshold (pmax) and 26% with a probability threshold of 0.7. We also observed that more than half of the incorrect predictions were for individuals carrying the rs12913832 GG genotype. For hair colour, 65% of the individuals were correctly predicted when using the highest probability category approach. The main error was observed for individuals with brown hair colour that were predicted to have blond hair. Utilising the prediction guide approach increased the correct predictions to 75%. Assessment of phenotype-genotype associations of eye colours using a quantitative eye colour score (PIE-score), revealed that rs12913832 AA individuals of Norwegian descent had statistically significantly higher PIE-score (less brown eye colour) than individuals of non-northern European descent. To our knowledge, this has not been reported in other studies. Our study suggests that careful assessment of the target population prior to the implementation of forensic DNA phenotyping to case work is beneficial.     

Endovascular treatment of experimental aneurysms in rabbits using Guglielmi detachable coils – a feasibility study

The Guglielmi detachable coil (GDC) has been generally accepted for treatment of intracranial aneurysms. Preclinical testing of new coil developments requires animal models of aneurysms which imitate human aneurysms in size, configuration and neck morphology. We assessed in detail the technical requirements and steps for transfemoral treatment of experimentally induced aneurysms at the top of the brachiocephalic trunk (TBC) in rabbits. We created aneurysms in five rabbits by distal ligation and intraluminal incubation of the right common carotid artery with elastase. All animals were treated successfully 2-3 weeks after induction of the aneurysm, with dense packing of the coils. No complications related to the procedures occurred. The study demonstrates that our animal model can be a suitable method for testing the biocompatibility and occlusion rate of new embolic materials.     

Applications of artificial intelligence in forensic sciences: Current potential benefits,limitations and perspectives

In recent years, new studies based on artificial intelligence (AI) have been conducted in the forensic field, posing new challenges and demonstrating the advantages and disadvantages of using AI methodologies to solve forensic well-known problems. Specifically, AI technology has tried to overcome the human subjective bias limitations of the traditional approach of the forensic sciences, which include sex prediction and age estimation from morphometric measurements in forensic anthropology or evaluating the third molar stage of development in forensic odontology. Likewise, AI has been studied as an assisting tool in forensic pathology for a quick and easy identification of the taxonomy of diatoms. The present systematic review follows the PRISMA 2020 statements and aims to explore an emerging topic that has been poorly analyzed in the forensic literature. Benefits, limitations, and forensic implications concerning AI are therefore highlighted, by providing an extensive critical review of its current applications on forensic sciences as well as its future directions. Results are divided into 5 subsections which included forensic anthropology, forensic odontology, forensic pathology, forensic genetics, and other forensic branches. The discussion offers a useful instrument to investigate the potential benefits of AI in the forensic fields as well as to point out the existing open questions and issues concerning its application on real-life scenarios. Procedural notes and technical aspects are also provided to the readers.