Costal cartilage fractures in blunt polytrauma patients - a prospective clinical and radiological follow-up study

Purpose To assess the healing of costal cartilage fractures (CCFX) in patients with blunt polytrauma with follow-up imaging and clinical examination. Effect on physical performance and quality of life (QoL) was also evaluated. Methods The study group comprised twenty-one patients with diagnosed CCFX in trauma CT. All the patients underwent MRI, ultrasound, ultra-low-dose CT examinations, and clinical status control. The patients completed QoL questionnaires. Two radiologists evaluated the images regarding fracture union, dislocation, calcifications, and persistent edema at fracture site. An attending trauma surgeon clinically examined the patients, with emphasis on focal tenderness and ribcage mobility. Trauma registry data were accessed to evaluate injury severity and outcome. Results The patients were imaged at an average of 34.1 months (median 36, range 15.8-57.7) after the initial trauma. In 15 patients (71.4%), CCFX were considered stable on imaging. Cartilage calcifications were seen on healed fracture sites in all the patients. The fracture dislocation had increased in 5 patients (23.8%), and 1 patient (4.8%) showed signs of a non-stable union. Four patients (19.0%) reported persistent symptoms from CCFX. Conclusion Non-union in CCFX is uncommon but may lead to decreased stability and discomfort. Both clinical and radiological examinations play an important part in the post-traumatic evaluation of CCFX. CT and MRI visualize the healing process, while dynamic ultrasound may reveal instability. No significant difference in QoL was detected between patients with radiologically healed and non-healed CCFX. Post-traumatic disability was mostly due to other non-thoracic injuries.Peer reviewe

Unanticipated population structure of European grayling in its northern distribution: implications for conservation prioritization

<p>Abstract</p> <p>Background</p> <p>The European grayling (<it>Thymallus thymallus</it>) is a salmonid fish native to Europe, with a distribution ranging from England and France to the Ural Mountains of north-western Russia. The majority of grayling populations inhabit freshwater rivers and lakes but some populations also occupy brackish water in northern parts of the Baltic Sea. Previous population genetic studies have demonstrated that grayling populations in Finland, Estonia and Russia belong to a single mitochondrial lineage and exhibit high levels of differentiation even at a small geographic scale. As a result, we predicted that grayling populations should not cluster regionally. Despite the extensive amount of genetic research that has been carried out on grayling, comprehensive national-level information on population structure of grayling in Northern Europe is still lacking. Yet this is the level at which populations are currently managed.</p> <p>Results</p> <p>We found unanticipated population structure of grayling clustering into three groups largely corresponding to the northern, Baltic and south-eastern geographic areas of Finland using 13 microsatellite loci. We also found a high level of genetic differentiation among the groups and moderate to high differentiation within the groups. This combined with low variability strongly indicates that genetic drift and limited migration have a major impact on grayling population structure. An allele size permutation test indicated that mutations at microsatellite loci have not significantly contributed to genetic differentiation among the three Finnish groups. However, at the European scale, mutations had significantly contributed to population differentiation.</p> <p>Conclusion</p> <p>This research provides novel genetic information on European grayling in its northern distribution range and has clear implications for supporting country-scale conservation efforts. Specifically, the strong between population divergence observed indicates that single populations should generally be recognized as separate management units. We also introduced an alternative prioritization strategy for population conservation based on the evaluation of the relative roles of different evolutionary forces shaping the gene pools. We envision that the proposed approach to categorize populations for conservation will be a useful tool for wildlife researchers and conservationists working on a diverse range of organisms.</p

aColor: Mechatronics, Machine Learning, and Communications in an Unmanned Surface Vehicle

The aim of this work is to offer an overview of the research questions, solutions, and challenges faced by the project aColor ("Autonomous and Collaborative Offshore Robotics"). This initiative incorporates three different research areas, namely, mechatronics, machine learning, and communications. It is implemented in an autonomous offshore multicomponent robotic system having an Unmanned Surface Vehicle (USV) as its main subsystem. Our results across the three areas of work are systematically outlined in this paper by demonstrating the advantages and capabilities of the proposed system for different Guidance, Navigation, and Control missions, as well as for the high-speed and long-range bidirectional connectivity purposes across all autonomous subsystems. Challenges for the future are also identified by this study, thus offering an outline for the next steps of the aColor project.Comment: Paper was originally submitted to and presented in the 8th Transport Research Arena TRA 2020, April 27-30, 2020, Helsinki, Finlan

Developmental Validation of Short Tandem Repeat Reagent Kit for Forensic DNA Profiling of Canine Biological Material

Aim To develop a reagent kit that enables multiplex polymerase chain reaction (PCR) amplification of 18 short tandem repeats (STR) and the canine sex-determining Zinc Finger marker. Methods Validation studies to determine the robustness and reliability in forensic DNA typing of this multiplex assay included sensitivity testing, reproducibility studies, intra- and inter-locus color balance studies, annealing temperature and cycle number studies, peak height ratio determination, characterization of artifacts such as stutter percentages and dye blobs, mixture analyses, species- specificity, case type samples analyses and population studies. Results The kit robustly amplified domesticated dog samples and consistently generated full 19-locus profiles from as little as 125 pg of dog DNA. In addition, wolf DNA samples could be analyzed with the kit. Conclusion The kit, which produces robust, reliable, and reproducible results, will be made available for the forensic research community after modifications based on this study’s evaluation to comply with the quality standards expected for forensic casework

Developmental Validation of Short Tandem Repeat Reagent Kit for Forensic DNA Profiling of Canine Biological Material

Aim To develop a reagent kit that enables multiplex polymerase chain reaction (PCR) amplification of 18 short tandem repeats (STR) and the canine sex-determining Zinc Finger marker. Methods Validation studies to determine the robustness and reliability in forensic DNA typing of this multiplex assay included sensitivity testing, reproducibility studies, intra- and inter-locus color balance studies, annealing temperature and cycle number studies, peak height ratio determination, characterization of artifacts such as stutter percentages and dye blobs, mixture analyses, species- specificity, case type samples analyses and population studies. Results The kit robustly amplified domesticated dog samples and consistently generated full 19-locus profiles from as little as 125 pg of dog DNA. In addition, wolf DNA samples could be analyzed with the kit. Conclusion The kit, which produces robust, reliable, and reproducible results, will be made available for the forensic research community after modifications based on this study’s evaluation to comply with the quality standards expected for forensic casework

Morphology and histology of silent and symptom-causing atherosclerotic carotid plaques - Rationale and design of the Helsinki Carotid Endarterectomy Study 2 (the HeCES2)

Introduction: Every fifth ischemic stroke is caused by thromboembolism originating from an atherosclerotic carotid artery plaque. While prevention is the most cost-effective stroke therapy, antiplatelet and cholesterol-lowering drugs have a ceiling effect in their efficacy. Therefore, discovery of novel pathophysiologic targets are needed to improve the primary and secondary prevention of stroke. This article provides a detailed study design and protocol of HeCES2, an observational prospective cohort study with the objective to investigate the pathophysiology of carotid atherosclerosis.Materials and Methods: Recruitment and carotid endarterectomies of the study patients with carotid atherosclerosis were performed from October 2012 to September 2015. After brain and carotid artery imaging, endarterectomised carotid plaques (CPs) and blood samples were collected from 500 patients for detailed biochemical and molecular analyses.Findings to date: We developed a morphological grading for macroscopic characteristics within CPs. The dominant macroscopic CP characteristics were: smoothness 62%, ulceration 61%, intraplaque hemorrhage 60%, atheromatous gruel 59%, luminal coral-type calcification 34%, abundant (44%) and moderate (39%) intramural calcification, and symptom-causing hot spot area 53%.Future plans: By combining clinically oriented and basic biomedical research, this large-scale study attempts to untangle the pathophysiological perplexities of human carotid atherosclerosis.Key MessagesThis article is a rationale and design of the HeCES2 study that is an observational prospective cohort study with the objective to investigate the pathophysiology of carotid atherosclerosis.The HeCES2 study strives to develop diagnostic algorithms including radiologic imaging to identify carotid atherosclerosis patients who warrant surgical treatment.In addition, the study aims at finding out new tools for clinical risk stratification as well as novel molecular targets for drug development.Peer reviewe

Discrepancies between Radiology Specialists and Residents in Fracture Detection from Musculoskeletal Radiographs

(1) Background: The aim of this study was to compare the competence in appendicular trauma radiograph image interpretation between radiology specialists and residents. (2) Methods: In this multicenter retrospective cohort study, we collected radiology reports from radiology specialists (N = 506) and residents (N = 500) during 2018–2021. As a reference standard, we used the consensus of two subspecialty-level musculoskeletal (MSK) radiologists, who reviewed all original reports. (3) Results: A total of 1006 radiograph reports were reviewed by the two subspecialty-level MSK radiologists. Out of the 1006 radiographs, 41% were abnormal. In total, 67 radiographic findings were missed (6.7%) and 31 findings were overcalled (3.1%) in the original reports. Sensitivity, specificity, positive predictive value, and negative predictive value were 0.86, 0.92, 0.91 and 0.88 respectively. There were no statistically significant differences between radiology specialists’ and residents’ competence in interpretation (p = 0.44). However, radiology specialists reported more subtle cases than residents did (p = 0.04). There were no statistically significant differences between errors made in the morning, evening, or night shifts (p = 0.57). (4) Conclusions: This study found a lack of major discrepancies between radiology specialists and residents in radiograph interpretation, although there were differences between MSK regions and in subtle or obvious radiographic findings. In addition, missed findings found in this study often affected patient treatment. Finally, there are MSK regions where the sensitivity or specificity is below 90%, and these should raise concerns and highlight the need for double reading and should be taken into consideration in radiology education.Peer reviewe

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negative selection. This selection signal is significantly stronger for variants arising upstream of genes intolerant to loss-of-function variants. Furthermore, variants creating uORFs that overlap the coding sequence show signals of selection equivalent to coding missense variants. Finally, we identify specific genes where modification of uORFs likely represents an important disease mechanism, and report a novel uORF frameshift variant upstream of NF2 in neurofibromatosis. Our results highlight uORF-perturbing variants as an under-recognised functional class that contribute to penetrant human disease, and demonstrate the power of large-scale population sequencing data in studying non-coding variant classes. Upstream open reading frames (uORFs), located in 5' untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.Peer reviewe

Serum Proteomic Profiling to Identify Biomarkers of Premature Carotid Atherosclerosis

To evaluate the presence of serum protein biomarkers associated with the early phases of formation of carotid atherosclerotic plaques, label-free quantitative proteomics analyses were made for serum samples collected as part of The Cardiovascular Risk in Young Finns Study. Samples from subjects who had an asymptomatic carotid artery plaque detected by ultrasound examination (N = 43, Age = 30–45 years) were compared with plaque free controls (N = 43) (matched for age, sex, body weight and systolic blood pressure). Seven proteins (p </p