Background/Objectives: Forensic DNA phenotyping (FDP) enables the prediction of externally visible characteristics (EVCs) such as eye, hair, and skin color, ancestry, and age from biological traces. However, low template DNA (LT-DNA), often derived from degraded or trace samples, poses significant challenges due to allelic dropout, contamination, and incomplete profiles. This review evaluates recent advances in FDP from LT-DNA, focusing on the integration of machine learning (ML) models to improve predictive accuracy and operational readiness, while addressing ethical and population-related considerations. Methods: A comprehensive literature review was conducted on FDP and ML applications in forensic genomics. Key areas examined include SNP-based trait modeling, genotype imputation, epigenetic age estimation, and probabilistic inference. Comparative performance of ML algorithms (Random Forests, Support Vector Machines, Gradient Boosting, and deep learning) was assessed using datasets such as the 1000 Genomes Project, UK Biobank, and forensic casework samples. Ethical frameworks and validation standards were also analyzed. Results: ML approaches significantly enhance phenotype prediction from LT-DNA, achieving AUC > 0.9 for eye color and improving SNP recovery by up to 15% through imputation. Tools like HIrisPlex-S and VISAGE panels remain robust for eye and hair color, with moderate accuracy for skin tone and emerging capabilities for age and facial morphology. Limitations persist in admixed populations and traits with polygenic complexity. Interpretability and bias mitigation remain critical for forensic admissibility. Conclusions: L integration strengthens FDP from LT-DNA, offering valuable investigative leads in challenging scenarios. Future directions include multi-omics integration, portable sequencing platforms, inclusive reference datasets, and explainable AI to ensure accuracy, transparency, and ethical compliance in forensic applications.
BACKGROUND Lower respiratory infections (LRIs) remain the world's leading infectious cause of death. This analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2023 provides global, regional, and national estimates of LRI incidence, mortality, and disability-adjusted life-years (DALYs), with attribution to 26 pathogens, including 11 newly modelled pathogens, across 204 countries and territories from 1990 to 2023. With new data and revised modelling techniques, these estimates serve as an update and expansion to GBD 2021. Through these estimates, we also aimed to assess progress towards the 2025 Global Action Plan for the Prevention and Control of Pneumonia and Diarrhoea (GAPPD) target for pneumonia mortality in children younger than 5 years. METHODS Mortality from LRIs, defined as physician-diagnosed pneumonia or bronchiolitis, was estimated using the Cause of Death Ensemble model with data from vital registration, verbal autopsy, surveillance, and minimally invasive tissue sampling. The Bayesian meta-regression tool DisMod-MR 2.1 was used to model overall morbidity due to LRIs. DALYs were calculated as the sum of years of life lost (YLLs) and years lived with disability (YLDs) for all locations, years, age groups, and sexes. We modelled pathogen-specific case-fatality ratios (CFRs) for each age group and location using splined binomial regression to create internally consistent estimates of incidence and mortality proportions attributable to viral, fungal, parasitic, and bacterial pathogens. Progress was assessed towards the GAPPD target of less than three deaths from pneumonia per 1000 livebirths, which is roughly equivalent to a mortality rate of less than 60 deaths per 100 000 children younger than 5 years. FINDINGS In 2023, LRIs were responsible for 2·50 million (95% uncertainty interval [UI] 2·24-2·81) deaths and 98·7 million (87·7-112) DALYs, with children younger than 5 years and adults aged 70 years and older carrying the highest burden. LRI mortality in children younger than 5 years fell by 33·4% (10·4-47·4) since 2010, with a global mortality rate of 94·8 (75·6-116·4) per 100 000 person-years in 2023. Among adults aged 70 years and older, the burden remained substantial with only marginal declines since 2010. A mortality rate of less than 60 deaths per 100 000 for children younger than 5 years was met by 129 of the 204 modelled countries in 2023. At a super-regional level, sub-Saharan Africa had an aggregate mortality rate in children younger than 5 years (hereafter referred to as under-5 mortality rate) furthest from the GAPPD target. Streptococcus pneumoniae continued to account for the largest number of LRI deaths globally (634 000 [95% UI 565 000-721 000] deaths or 25·3% [24·5-26·1] of all LRI deaths), followed by Staphylococcus aureus (271 000 [243 000-298 000] deaths or 10·9% [10·3-11·3]), and Klebsiella pneumoniae (228 000 [204 000-261 000] deaths or 9·1% [8·8-9·5]). Among pathogens newly modelled in this study, non-tuberculous mycobacteria (responsible for 177 000 [95% UI 155 000-201 000] deaths) and Aspergillus spp (responsible for 67 800 [59 900-75 900] deaths) emerged as important contributors. Altogether, the 11 newly modelled pathogens accounted for approximately 22% of LRI deaths. INTERPRETATION This comprehensive analysis underscores both the gains achieved through vaccination and the challenges that remain in controlling the LRI burden globally. Furthermore, it demonstrates persistent disparities in disease burden, with the highest mortality rates concentrated in countries in sub-Saharan Africa. Globally, as well as in these high-burden locations, the under-5 LRI mortality rate remains well above the GAPPD target. Progress towards this target requires equitable access to vaccines and preventive therapies-including newer interventions such as respiratory syncytial virus monoclonal antibodies-and health systems capable of early diagnosis and treatment. Expanding surveillance of emerging pathogens, strengthening adult immunisation programmes, and combating vaccine hesitancy are also crucial. As the global population ages, the dual challenge of sustaining gains in child survival while addressing the rising vulnerability in older adults will shape future pneumonia control strategies. FUNDING Gates Foundation.
Background: Many deaths during heat waves stem not only from body overheating but also from heat stress, which can intensify pre-existing medical conditions, leading to fatal outcomes. Aim: This study aimed to investigate whether the intensity of pathological changes in the heart muscle and lung tissue of albino rats exposed to hyperthermia correlates with different water temperatures (WT) and to determine whether the histological structure of the myocardium and lungs varies. Methods: A sample of 21 albino rats was exposed to water temperatures of 37°C, 41°C, and 44°C. Temperature readings were recorded before immersion, immediately after immersion, at the point of reaching hyperthermia, at 20 minutes, and at the time of death. Tissue samples were collected from the dissected rats, fixed in 10% buffered formalin at room temperature, embedded in paraffin, sectioned into 4–5 μm slices, and stained using the hematoxylin-eosin method. Results: The severity of myocardial histopathological alterations increased with both higher temperatures and longer exposure durations WT. However, the progression of morphological alterations in cardiomyocytes was not markedly significant, likely due to the brief exposure time, which limited the visualization of subcellular alterations in Hematoxylin and Eosin staining-stained tissue. All lung samples from the seven rats exposed to the highest temperatures displayed bronchiolitis and acute bronchitis, along with early bronchopneumonia. Conclusion: While some organs exhibit greater tolerance to heat stroke than other organs, most organs show similar alterations characterized by capillary dilation, vascular pathway disruption, and extravasation. The extent of pathological changes in myocardial and lung tissue intensified with higher temperatures and longer exposure durations to elevated WT. However, the progression of morphological alterations in cardiomyocytes did not demonstrate marked significance, likely because of the brief exposure period. This short duration may limit the detection of subcellular changes when using hematoxylin-eosin staining.
Introduction: Vitamin D (VD) deficiency has become a global epidemic in the past 2 decades. Cardiac troponin is a specific biomarker for detecting myocardial injury, particularly in the context of myocardial infarction (MI), where elevated levels are indicative of myocardial necrosis. This study aimed to investigate the relationship between VD levels and troponin values in patients admitted to the Intensive Care Unit under suspicion of acute coronary syndrome, including comparisons with patients ultimately not diagnosed with ACS. Materials and Methods: This cross-sectional study included a group of 69 patients who were hospitalized in the Intensive Care Unit of the Hospital under suspicion of acute coronary syndrome. The control consisted of patients without ACS. The content of VD-(25[OH]D) in blood plasma was measured by enzyme-linked immunosorbent assay during June–August 2024. Blood samples were taken in tubes with ethylenediaminetetraacetic acid anticoagulant. The tubes without anticoagulant were used for collecting blood for VD, fibrinogen, D-dimer, and lipid parameter measurement. Results: A statistically significant difference in total cholesterol levels was observed between patients with angina pectoris and those with MI (P < 0.05). Pearson correlation analysis also demonstrated a moderate negative correlation between VD levels and troponin values in patients diagnosed with MI (P < 0.05), indicating that lower VD concentrations may be associated with greater myocardial injury. Conclusions: Based on the data obtained, the medical community is inclined to believe that correction of VD deficiency has great prognostic significance. Further clinical and experimental studies are needed to study in more detail the mechanisms of the negative effects of VD deficiency on the cardiovascular system.
Background: Between 10% and 80% of surgical patients experience some form of fear and anxiety before surgery. This is often attributed to inadequate or incorrect preoperative information. Objectives: This study aimed to critically evaluate and compile research that describes the impact of preoperative information on the patient's well-being before surgery. Methods: A systematic search was conducted on PubMed, Medline, CHINAL, Embase, and the Cochrane Library database for qualitative and quantitative literature regarding factors influencing patients' well-being before surgery. An inductive thematic analysis generated categories and subcategories. Nineteen studies were included. Results: Two main categories emerged from the thematic analysis of the included articles. These were the direct impact of information on fear and anxiety and the indirect impact of information on fear and anxiety. Information from healthcare professionals, alternative sources of information, shortage of healthcare professionals, music, and inability to receive information were some of the factors that can influence the well-being of patients before surgery. There are different reasons for the patient's fear and anxiety preoperatively, as well as the importance of direct and indirect information and other methods. For some patients, however, too much information could cause more fear and anxiety. Conclusion: The importance of the patient's discomfort being highlighted by the healthcare professionals emerges clearly and shows negative experiences in those cases where the patient feels his fears and concerns are not being addressed. More qualitative and quantitative research in the same theme, education and using person-centred care, and the right amount of information based on the patient's wishes are needed to improve the patient's well-being.
Hypothermia-related deaths present significant diagnostic challenges due to non-specific and often inconsistent autopsy findings. This study investigated the histological and immunohistochemical alterations associated with primary and secondary hypothermia in an experimental Rattus norvegicus model, focusing on the effects of benzodiazepine and alcohol ingestion. Twenty-one male rats were divided into three groups: control (K), benzodiazepine-treated (B), and alcohol-treated (A). After two weeks of substance administration, hypothermia was induced and multiple organ samples were analyzed. Histologically, renal tissue showed hydropic and vacuolar degeneration, congestion, and acute tubular injury across all groups, with no significant differences in E-cadherin expression. Lung samples revealed congestion, emphysema, and hemorrhage, with more pronounced vascular congestion in the alcohol and benzodiazepine groups. Cardiac tissue exhibited vacuolar degeneration and protein denaturation, particularly in substance-exposed animals. The spleen showed preserved architecture but increased erythrocyte infiltration and significantly elevated myeloperoxidase (MPO)-positive granulocytes in the intoxicated groups. Liver samples demonstrated congestion, focal necrosis, and subcapsular hemorrhage, especially in the alcohol group. Immunohistochemical analysis revealed statistically significant differences in MPO expression in both lung and spleen tissues, with the highest levels observed in the benzodiazepine group. Similarly, CK7 and CK20 expression in the gastroesophageal junction was significantly elevated in both alcohol- and benzodiazepine-treated animals compared to the controls. In contrast, E-cadherin expression in the kidney did not differ significantly among the groups. These findings suggest that specific histological and immunohistochemical patterns, particularly involving pulmonary, cardiac, hepatic, and splenic tissues, may help differentiate primary hypothermia from substance-related secondary hypothermia. The study underscores the value of integrating toxicological, histological, and molecular analyses to enhance the forensic assessment of hypothermia-related fatalities. Future research should aim to validate these markers in human autopsy series and explore additional molecular indicators to refine diagnostic accuracy in forensic pathology.
This cross-sectional study investigates the global burden of nontraumatic subarachnoid hemorrhage in 2021.
Background: Primary hypothermia occurs when the body is exposed to extremely low temperatures in an environment with no underlying health conditions. Secondary hypothermia, on the other hand, results from disruptions in thermoregulation due to diseases, trauma, surgery, drugs, alcohol, or infections. Postmortem biochemistry has become a crucial factor in forensic examinations, offering valuable apprehension into tissue of and organ dysfunction associated with the process of dying. Aim: This research aims to explore various biochemical markers and their significance in distinguishing primary from secondary hypothermia. Methods: This study involved 21 Wistar rats, which were separated into three experimental groups: CG (n = 7), which were exposed only to hypothermic conditions; AHG (n = 7); and BHG (n = 7). We tested these parameters in each rat: glucose, urea, creatinine, blood urea nitrogen to creatinine ratio, phosphorus, calcium, sodium, potassium, sodium to potassium ratio, chloride, and calculated osmolality. Results: Distinct biochemical differences were noted between primary and secondary hypothermia. Glucose and creatinine levels exhibited significant variations (p < 0.001). Urea concentrations also manifested notable differences between the groups (p < 0.001). Phosphorus levels demonstrated significant differences (p = 0.004), with post hoc analyses revealing significant contrasts between the AHG and BHG (p = 0.014) and between the BHG and CG (p = 0.014). Potassium levels and the sodium-to-potassium ratio differed significantly (p < 0.001). Osmolality also varied significantly across experimental groups (p < 0.001), with post hoc tests confirming significant differences between the AHG and CG (p = 0.013) and between the BHG and CG (p = 0.002). Conclusion: The calculated osmolality exhibited significant variation among the different groups, indicating a notable impact of the substances on the biochemical profile related to hypothermia. This study focused on the effectiveness of biochemical markers in distinguishing primary hypothermia from secondary hypothermia.
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