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Search Results (1,340)

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Keywords = sex-specific analysis

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14 pages, 1168 KiB  
Article
Effect of Relocation, Social Housing Changes, and Diarrhea Status on Microbiome Composition of Juvenile Cynomolgus Macaques (Macaca fascicularis)
by Keely McGrew, Nicole Monts de Oca and Therese A. Kosten
Microorganisms 2025, 13(1), 98; https://doi.org/10.3390/microorganisms13010098 - 7 Jan 2025
Viewed by 223
Abstract
Social housing changes are likely stressful and can be associated with diarrhea, the most common health problem noted in captive macaque populations. Diarrhea may reflect a negative shift in the gut flora (“gut dysbiosis”). This study reported on changes in the gut microbiome [...] Read more.
Social housing changes are likely stressful and can be associated with diarrhea, the most common health problem noted in captive macaque populations. Diarrhea may reflect a negative shift in the gut flora (“gut dysbiosis”). This study reported on changes in the gut microbiome composition of juvenile primates (Macaca fascicularis) that experienced a change in social housing and exhibited diarrhea. A matched-case–control design was utilized to compare fecal samples from gut-unhealthy animals to healthy counterparts (n = 61). Baseline samples from recently imported animals were collected during routine sedation events. When an animal experienced a housing change, the entire cohort was monitored for diarrhea. Post-relocation samples were collected from animals that exhibited diarrhea and from their matched controls. Samples were assessed via 16S rRNA next-generation sequencing for a microbiome analysis and by ELISA for cortisol levels. Fecal cortisol levels did not differ between groups or across time points. Alpha diversity increased after relocation and differed by sex with males demonstrating a greater change in alpha diversity (p < 0.01). Although exhibiting diarrhea did not affect alpha diversity levels, it was associated with increased beta diversity (p < 0.05). Understanding how the microbiome may be affected by relocation will help guide prevention strategies such as the use of specific probiotics to reduce the incidence of diarrhea. Full article
(This article belongs to the Section Gut Microbiota)
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13 pages, 1086 KiB  
Article
The Validation of a Novel, Sex-Specific LDL-Cholesterol Equation and the Friedewald, Sampson-NIH, and Extended-Martin–Hopkins Equations Against Direct Measurement in Korean Adults
by Hyun Suk Yang, Soo-Nyung Kim, Seungho Lee and Mina Hur
Metabolites 2025, 15(1), 18; https://doi.org/10.3390/metabo15010018 - 5 Jan 2025
Viewed by 385
Abstract
Background/Objectives: The currently established equations for calculating low-density lipoprotein cholesterol (LDLc) do not reflect the sex-specific differences in lipid metabolism. We aimed to develop a sex-specific LDLc equation (SSLE) and validate it with three established equations (Friedewald, Sampson-NIH, and ext-Martin–Hopkins) against direct [...] Read more.
Background/Objectives: The currently established equations for calculating low-density lipoprotein cholesterol (LDLc) do not reflect the sex-specific differences in lipid metabolism. We aimed to develop a sex-specific LDLc equation (SSLE) and validate it with three established equations (Friedewald, Sampson-NIH, and ext-Martin–Hopkins) against direct LDLc measurement in Korean adults. Methods: This study included 23,757 subjects (51% male; median age, 51 years) from the 2009–2022 Korean National Health and Nutrition Examination Survey. We developed the SSLE through multiple linear regression incorporating total cholesterol (TC), high-density lipoprotein cholesterol (HDLc), triglycerides (TG), and sex. The validation metrics included Bland–Altman analysis for mean absolute percentage error (MAPE) and agreement of the categorization based on the NCEP ATP-III guidelines, assessed by sex and lipid subgroups. Results: The derived SSLE equation was as follows: for TG < 200 mg/dL, LDLc = 0.963 × TC − 0.881 × HDLc − 0.111 × TG + 0.982 × Sex − 6.958; for TG ≥ 200 mg/dL, LDLc = 0.884 × TC − 0.646 × HDLc − 0.126 × TG + 3.742 × Sex − 3.214 (male = 1, female = 0). The MAPE was similar between males and females for the SSLE (4.6% for both) and ext-Martin–Hopkins (5.0% vs. 4.9%) but higher in males for the Sampson-NIH (5.4% vs. 4.9%) and Friedewald (7.6% vs. 5.7%). In the TG ≥ 400 mg/dL group, the MAPE increased progressively: SSLE (10.2%), ext-Martin–Hopkins (12.0%), Sampson-NIH (12.7%), and Friedewald (27.4%). In the LDLc < 70 mg/dL group, the MAPE was as follows: SSLE (8.0%), Sampson-NIH (8.6%), ext-Martin–Hopkins (9.7%), and Friedewald (12.8%). At TG 200–400 mg/dL, the SSLE revealed very good agreement (κ = 0.801) versus good agreement for other equations (ext-Martin–Hopkins κ = 0.794, Sampson-NIH κ = 0.782, Friedewald κ = 0.696). Conclusions: The novel SSLE demonstrated superior accuracy and agreement in Korean adults. Further validation studies across different ethnic populations are warranted. Full article
(This article belongs to the Special Issue Lipid Biomarkers and Cardiometabolic Diseases—2nd Edition)
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9 pages, 603 KiB  
Study Protocol
The e-STROKE Study: The Design of a Prospective Observational Multicentral Study
by Kateřina Dvorníková, Veronika Kunešová, Svatopluk Ostrý, Robert Mikulík and Michal Bar
J. Cardiovasc. Dev. Dis. 2025, 12(1), 17; https://doi.org/10.3390/jcdd12010017 - 3 Jan 2025
Viewed by 419
Abstract
Introduction: The e-STROKE study is a prospective, multicenter observational study designed to assess the impact of various CT parameters (including e-ASPECT, CT perfusion (CTP), collateral flow status, and the size and location of the ischemic lesion) on the clinical outcomes of patients with [...] Read more.
Introduction: The e-STROKE study is a prospective, multicenter observational study designed to assess the impact of various CT parameters (including e-ASPECT, CT perfusion (CTP), collateral flow status, and the size and location of the ischemic lesion) on the clinical outcomes of patients with ischemic stroke, as evaluated by the modified Rankins Scale (mRS) three months post-stroke. This study also aims to investigate whether the use of multimodal CT imaging increases the number of patients eligible for recanalization therapy. The analysis will integrate data from the RES-Q registry and radiological data from the e-STROKE system provided by Brainomix Ltd. Aims: The primary aim is to determine the predictive value of CT parameters (e-ASPECTS, CTP, collateral vessel status, and ischemic lesion volume and location) on three-month functional outcomes, as defined by the mRS, in patients with non-lacunar stroke following recanalization treatment (IVT and/or MT). The secondary aim is to evaluate whether multimodal CT examination leads to an increase in the number of patients eligible for recanalization therapy. Additionally, this study seeks to assess the specificity and sensitivity of multimodal CT in distinguishing stroke mimics from actual strokes. Methods: This multicenter observational study involves patients with suspected acute ischemic stroke and a premorbid mRS ≤ 4, who are treated with endovascular thrombectomy (EVT), intravenous thrombolysis (IVT), or managed conservatively in stroke centers within the Czech Stroke Research Network (STROCZECH), which is part of the Czech Clinical Research Infrastructure Network (CZECRIN). Data collection includes demographic, clinical, and imaging data variables such as age, sex, ethnicity, risk factors, treatment times (OTT, DNT, and OGT), TICI scores, post-treatment hemorrhage (ECAS II), mRS outcome, stroke etiology, e-ASPECTS, acute ischemic volume (AIV), thrombus length on NCCT, CTA collateral score and collateral vessel density, location of large vessel occlusion, ischemic core, hypoperfusion volume, mismatch ratio and volume, final infarct volume, hemorrhage volume, and MRI in case of negative follow-up NCCT. Conclusions: We anticipate collecting robust clinical and radiological data from approximately 2000 patients across 22 centers over a 12-month period. The results are expected to enhance the precision of diagnostic and prognostic radiological markers in managing acute stroke. Full article
(This article belongs to the Special Issue Stroke: Risk Factors, Mechanisms, Outcomes and Ethnicity)
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29 pages, 4533 KiB  
Article
Insights into Solea senegalensis Reproduction Through Gonadal Tissue Methylation Analysis and Transcriptomic Integration
by Daniel Ramírez, Marco Anaya-Romero, María Esther Rodríguez, Alberto Arias-Pérez, Robert Mukiibi, Helena D’Cotta, Diego Robledo and Laureana Rebordinos
Biomolecules 2025, 15(1), 54; https://doi.org/10.3390/biom15010054 - 2 Jan 2025
Viewed by 380
Abstract
Fish exhibit diverse mechanisms of sex differentiation and determination, shaped by both external and internal influences, often regulated by distinct DNA methylation patterns responding to environmental changes. In S. senegalensis aquaculture, reproductive issues in captivity pose significant challenges, particularly the lack of fertilization [...] Read more.
Fish exhibit diverse mechanisms of sex differentiation and determination, shaped by both external and internal influences, often regulated by distinct DNA methylation patterns responding to environmental changes. In S. senegalensis aquaculture, reproductive issues in captivity pose significant challenges, particularly the lack of fertilization capabilities in captive-bred males, hindering genetic improvement measures. This study analyzed the methylation patterns and transcriptomic profiles in gonadal tissue DNA from groups differing in rearing conditions and sexual maturity stages. RRBS (Reduced Representation Bisulfite Sequencing) was employed to detect notable methylation variations across groups, while RNA was extracted and sequenced for differential expression analysis. Our findings suggest that DNA methylation significantly regulates gene expression, acting as a mechanism that can both repress and enhance gene expression depending on the genomic context. The complexity of this epigenetic mechanism is evident from the varying levels of methylation and correlation rates observed in different CpGs neighboring specific genes linked to reproduction. Differential methylation comparisons revealed the highest number of differently methylated CpGs between maturation stages, followed by rearing conditions, and lastly between sexes. These findings underscore the crucial role of methylation in regulating gene expression and its potential role in sex differentiation, highlighting the complex interplay between epigenetic modifications and gene expression. Full article
(This article belongs to the Special Issue Molecular Insights into Sex and Evolution)
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28 pages, 4740 KiB  
Article
Elucidation of Factors Affecting the Age-Dependent Cancer Occurrence Rates
by Jun Xiao, Yangkun Cao, Xuan Li, Long Xu, Zhihang Wang, Zhenyu Huang, Xuechen Mu, Yinwei Qu and Ying Xu
Int. J. Mol. Sci. 2025, 26(1), 275; https://doi.org/10.3390/ijms26010275 - 31 Dec 2024
Viewed by 220
Abstract
Cancer occurrence rates exhibit diverse age-related patterns, and understanding them may shed new and important light on the drivers of cancer evolution. This study systematically analyzes the age-dependent occurrence rates of 23 carcinoma types, focusing on their age-dependent distribution patterns, the determinants of [...] Read more.
Cancer occurrence rates exhibit diverse age-related patterns, and understanding them may shed new and important light on the drivers of cancer evolution. This study systematically analyzes the age-dependent occurrence rates of 23 carcinoma types, focusing on their age-dependent distribution patterns, the determinants of peak occurrence ages, and the significant difference between the two genders. According to the SEER reports, these cancer types have two types of age-dependent occurrence rate (ADOR) distributions, with most having a unimodal distribution and a few having a bimodal distribution. Our modeling analyses have revealed that (1) the first type can be naturally and simply explained using two age-dependent parameters: the total number of stem cell divisions in an organ from birth to the current age and the availability levels of bloodborne growth factors specifically needed by the cancer (sub)type, and (2) for the second type, the first peak is due to viral infection, while the second peak can be explained as in (1) for each cancer type. Further analyses indicate that (i) the iron level in an organ makes the difference between the male and female cancer occurrence rates, and (ii) the levels of sex hormones are the key determinants in the onset age of multiple cancer types. This analysis deepens our understanding of the dynamics of cancer evolution shared by diverse cancer types and provides new insights that are useful for cancer prevention and therapeutic strategies, thereby addressing critical gaps in the current paradigm of oncological research. Full article
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16 pages, 3457 KiB  
Article
Body Mass Index and Weight Change as Predictors of Hypertension Development: A Sex-Specific Analysis
by Koki Kosami, Masanari Kuwabara, Akira Okayama and Ryusuke Ae
Nutrients 2025, 17(1), 119; https://doi.org/10.3390/nu17010119 - 30 Dec 2024
Viewed by 351
Abstract
Background/Objectives: Obesity is associated with food intake, drinking, and nutrition. It is necessary to examine the association between body mass index (BMI), body weight changes, and the incidence of hypertension, focusing on potential sex differences. Methods: A retrospective two-point [...] Read more.
Background/Objectives: Obesity is associated with food intake, drinking, and nutrition. It is necessary to examine the association between body mass index (BMI), body weight changes, and the incidence of hypertension, focusing on potential sex differences. Methods: A retrospective two-point cohort study was conducted using data from the Japanese Specific Health Checkup program from 2011 to 2013. Multivariable logistic regression analyses were employed to assess associations between BMI, weight change, and hypertension onset, adjusting for age, sex, and lifestyle factors, including smoking, drinking, and exercise. Results: In total, 397,181 participants were analyzed. A higher BMI was linked to a higher risk of hypertension, with an odds ratio (OR) of 1.11 (95% confidence interval [CI]: 1.11–1.12) for both sexes. Women aged 40–65 showed higher ORs than men. Weight gain was associated with developing hypertension, with an OR (95% CI) of 1.09 (1.09–1.10) in men and 1.08 (1.07–1.08) in women. This association held across all BMI levels, even among individuals without obesity, with the effect being generally stronger in men. Conclusions: Both BMI and weight change contribute to the development of hypertension among the Japanese healthy population, with differences based on sex. Weight reduction may reduce the risk of hypertension for individuals with and without obesity, emphasizing the importance of weight stability through food and nutrition control, particularly for women. Full article
(This article belongs to the Special Issue Obesity and Related Diseases: The Role of Nutrition)
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17 pages, 320 KiB  
Article
The Role of Rotational Thromboelastometry in Early Detection of the Hemostatic Derangements in Neonates with Systemic Candida Infection
by Rozeta Sokou, Alexia Eleftheria Palioura, Aikaterini Konstantinidi, Alexandra Lianou, Maria Lampridou, Martha Theodoraki, Daniele Piovani, Stefanos Bonovas, Konstantina A. Tsante, Petros Ioannou, Nicoletta Iacovidou and Andreas G. Tsantes
J. Fungi 2025, 11(1), 17; https://doi.org/10.3390/jof11010017 - 30 Dec 2024
Viewed by 404
Abstract
Background: Systemic Candida infection (SCI) is the third most common cause of late-onset sepsis in Neonatal Intensive Care Units (NICU). While platelet involvement in fungal infections has been extensively studied, evaluation of the hemostatic mechanism in Candida infections, especially in neonates, has not [...] Read more.
Background: Systemic Candida infection (SCI) is the third most common cause of late-onset sepsis in Neonatal Intensive Care Units (NICU). While platelet involvement in fungal infections has been extensively studied, evaluation of the hemostatic mechanism in Candida infections, especially in neonates, has not been widely investigated. The aim of the current study was to evaluate the hemostatic profile of neonates with SCI through rotational thromboelastometry (ROTEM), a laboratory method that assesses the viscoelastic properties of blood. Methods: This is a single-centered prospective cohort study including a group of neonates with SCI (n = 21); the control group consisted of healthy neonates (n = 24). Demographics, clinical parameters, and laboratory data were recorded at the disease onset. Neonatal scores for the assessment of disease severity (Modified NEOMOD, nSOFA, and NeoBAT) were also calculated. ROTEM parameters of neonates with SCI were compared to those of healthy neonates. Results: ROTEM parameters differed between neonates with SCI and healthy neonates, indicating a hypocoagulable profile of infected neonates. Specifically, neonates with SCI had significantly prolonged clotting time (CT) and clot formation time (CFT), as well as lower clot amplitude at 10 min (A10) and maximum clot firmness (MCF) when compared to healthy neonates (p values < 0.05), findings that remained consistent after adjusting for confounding factors such as gestational age, birth weight, and sex. In addition, a strong correlation was noted between ROTEM parameters and disease severity based on the modified NEOMOD, nSOFA, and NeoBAT scores. Conclusions: ROTEM parameters revealed a hypocoagulable profile in neonates during the early stages of SCI, which is also associated with disease severity. The results of this study highlight the need for monitoring of hemostatic status of this vulnerable group of patients and indicate that ROTEM analysis may have a role in the early detection of the hemostatic derangements associated with SCI in neonates, in order to ensure timely diagnosis and targeted therapeutic intervention. Full article
(This article belongs to the Special Issue Fungal Infections: New Challenges and Opportunities, 2nd Edition)
14 pages, 1191 KiB  
Article
Exploring Dietary- and Disease-Related Influences on Flatulence and Fecal Odor Perception in Inflammatory Bowel Disease
by Lea Pueschel, Sonja Nothacker, Leonie Kuhn, Heiner Wedemeyer, Henrike Lenzen and Miriam Wiestler
J. Clin. Med. 2025, 14(1), 137; https://doi.org/10.3390/jcm14010137 - 29 Dec 2024
Viewed by 560
Abstract
Background/Objectives: Inflammatory bowel disease (IBD) affects gastrointestinal function and may alter fecal and flatulence odor (intestinal odor) due to changes in inflammation, the gut microbiome, and metabolism. Investigating the relationship between dietary habits and intestinal odor in IBD is critical given the [...] Read more.
Background/Objectives: Inflammatory bowel disease (IBD) affects gastrointestinal function and may alter fecal and flatulence odor (intestinal odor) due to changes in inflammation, the gut microbiome, and metabolism. Investigating the relationship between dietary habits and intestinal odor in IBD is critical given the relationship between diet, gut health, and microbiome diversity. Methods: We performed a cohort analysis of a monocentric, cross-sectional study at a tertiary referral center and compared the perception of fecal and flatulence odor in 233 IBD patients (n = 117 women) with that of 96 healthy controls (HCs) (n = 67 women). In addition to a short screening questionnaire on highly processed foods (sQ-HPF), dietary behavior (Food Frequency Questionnaire (FFQ)), clinical (HBI, PMS) and biochemical (CRP, fecal calprotectin) parameters of disease activity, and adherence to a Mediterranean diet were assessed. Results: A notable predisposition towards elevated levels of intestinal malodor was identified in the IBD cohort when compared to the HC group. The analysis of dietary behavior in conjunction with intestinal malodor revealed more pronounced associations in the HC collective than in the IBD collective. The data further indicated that, in comparison to those in remission, IBD individuals with an active disease status exhibited a higher prevalence of intestinal malodor. In an adjusted logistic regression analysis of the influence of disease- and diet-specific factors on flatulence and fecal malodor in IBD, male sex was identified as a significant risk factor. Conclusions: This study highlights the significance of dietary factors in the management of IBD symptoms, with a particular focus on flatulence and fecal odor. Individuals with IBD demonstrated a higher propensity for intestinal malodor compared to HC, with active disease status further amplifying this prevalence. Dietary behavior showed stronger associations with malodor in the HC group than in IBD individuals, suggesting distinct interaction patterns between diet and gut health in these populations. Full article
(This article belongs to the Special Issue Inflammatory Bowel Disease (IBD): Clinical Diagnosis and Treatment)
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27 pages, 8616 KiB  
Article
Identification of Disease-Relevant, Sex-Based Proteomic Differences in iPSC-Derived Vascular Smooth Muscle Cells
by Nethika R. Ariyasinghe, Divya Gupta, Sean Escopete, Deepika Rai, Aleksandr Stotland, Niveda Sundararaman, Benjamin Ngu, Kruttika Dabke, Liam McCarthy, Roberta S. Santos, Megan L. McCain, Dhruv Sareen and Sarah J. Parker
Int. J. Mol. Sci. 2025, 26(1), 187; https://doi.org/10.3390/ijms26010187 - 29 Dec 2024
Viewed by 348
Abstract
The prevalence of cardiovascular disease varies with sex, and the impact of intrinsic sex-based differences on vasculature is not well understood. Animal models can provide important insights into some aspects of human biology; however, not all discoveries in animal systems translate well to [...] Read more.
The prevalence of cardiovascular disease varies with sex, and the impact of intrinsic sex-based differences on vasculature is not well understood. Animal models can provide important insights into some aspects of human biology; however, not all discoveries in animal systems translate well to humans. To explore the impact of chromosomal sex on proteomic phenotypes, we used iPSC-derived vascular smooth muscle cells from healthy donors of both sexes to identify sex-based proteomic differences and their possible effects on cardiovascular pathophysiology. Our analysis confirmed that differentiated cells have a proteomic profile more similar to healthy primary aortic smooth muscle cells than iPSCs. We also identified sex-based differences in iPSC-derived vascular smooth muscle cells in pathways related to ATP binding, glycogen metabolic process, and cadherin binding as well as multiple proteins relevant to cardiovascular pathophysiology and disease. Additionally, we explored the role of autosomal and sex chromosomes in protein regulation, identifying that proteins on autosomal chromosomes also show sex-based regulation that may affect the protein expression of proteins from autosomal chromosomes. This work supports the biological relevance of iPSC-derived vascular smooth muscle cells as a model for disease, and further exploration of the pathways identified here can lead to the discovery of sex-specific pharmacological targets for cardiovascular disease. Full article
(This article belongs to the Special Issue Research in iPSC-Based Disease Models)
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17 pages, 1419 KiB  
Article
Polygenic Score Approach to Predicting Risk of Metabolic Syndrome
by Yanina Timasheva, Olga Kochetova, Zhanna Balkhiyarova, Gulnaz Korytina, Inga Prokopenko and Arie Nouwen
Genes 2025, 16(1), 22; https://doi.org/10.3390/genes16010022 - 26 Dec 2024
Viewed by 372
Abstract
Background/Objectives: Metabolic syndrome (MetS) is a complex condition linking obesity, diabetes, and hypertension, representing a major challenge in clinical care. Its rising global prevalence, driven by urbanization, sedentary lifestyles, and dietary changes, underscores the need for effective management. This study aims to explore [...] Read more.
Background/Objectives: Metabolic syndrome (MetS) is a complex condition linking obesity, diabetes, and hypertension, representing a major challenge in clinical care. Its rising global prevalence, driven by urbanization, sedentary lifestyles, and dietary changes, underscores the need for effective management. This study aims to explore the genetic mechanisms behind MetS, including adiposity, inflammation, neurotransmitters, and β-cell function, to develop a prognostic tool for MetS risk. Methods: We genotyped 40 genetic variants across these pathways in 279 MetS patients and 397 healthy individuals. Using logistic regression, we evaluated the prognostic capability of a polygenic score model for MetS risk, both independently and with other factors like sex and age. Results: Logistic regression analysis identified 18 genetic variants significantly associated with MetS. The optimal predictive model used polygenic scores calculated with weights assigned to the 18 loci (AUC 82.5%, 95% CI 79.4–85.6%), with age and sex providing a minimal, non-significant improvement (AUC 83.3%, 95% CI 80.2–86.3%). The addition of the polygenic score significantly improved net reclassification (NRI = 1.03%, p = 3.42 × 10−50). Including all 40 variants did not enhance prediction (NRI = −0.11, p = 0.507). Conclusions: Polygenic scores could aid in predicting MetS risk and health outcomes, emphasizing the need for diagnostic tools tailored to specific populations. Additional research is warranted to corroborate these conclusions and explore the molecular mechanisms of MetS. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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10 pages, 571 KiB  
Article
Sleep Genetics and Cognitive Changes over Time: The Moderating Effect of Age and the Role of Brain
by Angeliki Tsapanou, Seonjoo Lee, Silvia Chapman, Niki Mourtzi, Christian Habeck and Yaakov Stern
Genes 2025, 16(1), 21; https://doi.org/10.3390/genes16010021 - 26 Dec 2024
Viewed by 469
Abstract
Background: Sleep plays a crucial role in cognitive performance and cognitive changes in aging. In the current study, we investigated the role of sleep duration genetics in cognitive changes over time and the moderating effect of age. Methods: Participants were drawn from the [...] Read more.
Background: Sleep plays a crucial role in cognitive performance and cognitive changes in aging. In the current study, we investigated the role of sleep duration genetics in cognitive changes over time and the moderating effect of age. Methods: Participants were drawn from the Reference Abilities Neural Network and the Cognitive Reserve studies of Columbia University. Each participant underwent an evaluation of sleep function and an extensive neuropsychological assessment. Published GWAS summary statistics from a polygenic score for sleep duration (Sleep PGI) were used to derive Sleep PGI in our study. We examined whether this Sleep PGI is associated with cognitive changes over a 5-year follow-up and if age moderates this effect. Analysis was performed after first being adjusted for age group (young: 20–44; middle: 45–64; old: 65–80), sex, education, the first four principal components, intracranial volume (ICV), mean cortical thickness, and total gray matter volume. We included ICV, mean thickness, and total gray matter volumes as time-varying covariates. We further included interactions of time with age and the first four PCs. Results: A total of 96 white-only participants were included, aged 24 to 78 years old. In the fully adjusted model, age-specific analysis showed that in younger individuals, higher Sleep PGI was associated with lower rates of cognitive decline in speed of processing. Conclusion: Genetic variants associated with sleep duration significantly influence performance in speed of processing, with age playing a critical moderating role, over and above brain morphometry. A genetic predisposition for longer sleep duration can work as a protective factor against decline in the speed of processing in young adults. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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12 pages, 1116 KiB  
Article
Metallothionein-1A (MT1A) Gene Variability May Play a Role in Female Frailty: A Preliminary Study
by Paolina Crocco, Francesco De Rango, Rossella La Grotta, Giuseppe Passarino, Giuseppina Rose and Serena Dato
Genes 2025, 16(1), 15; https://doi.org/10.3390/genes16010015 - 26 Dec 2024
Viewed by 308
Abstract
Background/Objectives: Frailty is a complex geriatric syndrome resulting in decreased physiological reserve. While genetics plays a role, the underlying mechanisms remain unsolved. Metallothioneins (MTs), metal-binding proteins with high affinity for zinc, an essential mineral for many physiological functions, are involved in processes including [...] Read more.
Background/Objectives: Frailty is a complex geriatric syndrome resulting in decreased physiological reserve. While genetics plays a role, the underlying mechanisms remain unsolved. Metallothioneins (MTs), metal-binding proteins with high affinity for zinc, an essential mineral for many physiological functions, are involved in processes including oxidative stress and inflammation. We investigated the impact of genetic variations in MTs on frailty. Methods: 448 subjects (235 females and 213 males, median age of 76 years) were categorized into three frailty groups (non-frail/pre-frail/frail), by hierarchical cluster analysis based on cognitive status (MMSE), functional capacity (ADL), and physical strength (HGS). Subjects were analyzed for selected SNPs in MT1A, MT1B, MT2A, and MT3 genes by PCR-RFLP. Results: An association was found between the rs8052394-A/G (Lys51Arg) polymorphism in the MT1A gene and frailty in females both in binary (OR = 0.345, p = 0.037) and multinomial logistic regression (OR = 0.343, p = 0.036) corrected for age and sex, with carriers of the minor G-allele less likely to transition from non-frail to pre-frail status. Additionally, a significant association with albumin levels (beta = 0.231; p = 0.027) and a trend of association with CRP levels (beta = −1.563; p = 0.097) were observed for this SNP in non-frail females, both indicative of a low inflammatory status. However, Bonferroni correction for multiple SNPs and physiological parameters tested renders these results statistically non-significant. Conclusions: Although its associations do not survive Bonferroni correction, this exploratory study suggests a sex-specific influence of MT1A variability in frailty, likely affecting zinc availability, aligning with ongoing research on sex differences in frailty risk and progression. Larger studies are needed to validate these findings and clarify the mechanisms behind MTs’ variability in frailty progression. Full article
(This article belongs to the Special Issue Genetic Variation in Age-Related Changes)
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12 pages, 1811 KiB  
Article
Early Prediction of Abdominal Aortic Aneurysm Rupture Risk Using Numerical Biomechanical Analysis
by Kristina Grassl, Thomas C. Gasser, Florian K. Enzmann, Alexandra Gratl, Josef Klocker, David Wippel, David C. Walcher, Elke R. Gizewski and Sabine H. Wipper
Diagnostics 2025, 15(1), 25; https://doi.org/10.3390/diagnostics15010025 - 26 Dec 2024
Viewed by 199
Abstract
Objective: We aimed to predict patient-specific rupture risks and growth behaviors in abdominal aortic aneurysm (AAA) patients using biomechanical evaluation with finite element analysis to establish an additional AAA repair threshold besides diameter and sex. Methods: A total of 1219 patients [...] Read more.
Objective: We aimed to predict patient-specific rupture risks and growth behaviors in abdominal aortic aneurysm (AAA) patients using biomechanical evaluation with finite element analysis to establish an additional AAA repair threshold besides diameter and sex. Methods: A total of 1219 patients treated between 2005 and 2024 (conservative and repaired AAAs) were screened for a pseudo-prospective single-center study. A total of 15 ruptured (rAAA) vs. 15 non-ruptured AAAs (control group) were matched for pre-rupture imaging (first rAAA) and the initial post-rupture imaging (second rAAA) with two images in the asymptomatic control group (first and second control). The matching criteria were as follows: aneurysm diameter, sex, and time period between imagings. The biomechanical properties were analyzed with the finite element method (A4clinicsRE, Vascops GmbH, Graz, Austria). Results: Both groups had the same median aortic diameter of 5.5 cm in the first imaging but had significantly different aneurysm progressions with 6.9 cm (5.5–9.4 cm) in the second rAAA vs. 6.0 cm (5.1–7.3 cm) in the second control group (p = 0.006). The first rAAA, compared to the first control, showed significantly a higher peak wall stress (PWS) (211.8 kPa vs. 180.5 kPa, p = 0.029) and luminal diameter (43.5 mm vs. 35.3 mm; p = 0.016). The second rAAA, compared to the matched second control, showed a significantly higher PWS (281.9 kPa vs. 187.4 kPa, p = 0.002), luminal diameter (58.3 mm vs. 39.7 mm; p = 0.007), PWRR (0.78 vs. 0.49, p = 0.014) and RRED (79.8 vs. 56.5, p = 0.014). The rAAA group showed over-proportional averages, over the observation time, and an increase in PWS (nearly 10× faster in rAAA) and luminal diameter (nearly 4× faster in rAAA) per month. Conclusions: The finite element analysis of biomechanical properties could be used for the early prediction of an increased rupture risk in AAA patients. This was confirmed by matched imaging analyses before and after AAA rupture. Further multicenter data are needed to support these findings. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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22 pages, 6305 KiB  
Systematic Review
Personalized Risk Assessment for Taxane-Induced Hypersensitivity Reactions: A Systematic Review and Meta-Analysis
by Hyun Jin Park, Minoh Ko, In-Wha Kim and Jung Mi Oh
J. Pers. Med. 2025, 15(1), 2; https://doi.org/10.3390/jpm15010002 - 24 Dec 2024
Viewed by 367
Abstract
Background/Objectives: Taxanes, including paclitaxel and docetaxel, are widely used in cancer treatment but frequently cause hypersensitivity reactions (HSRs), disrupting treatment continuity. This meta-analysis aimed to identify consistent risk factors for taxane-induced HSRs to support personalized risk assessments and optimize therapeutic outcomes. Methods: This [...] Read more.
Background/Objectives: Taxanes, including paclitaxel and docetaxel, are widely used in cancer treatment but frequently cause hypersensitivity reactions (HSRs), disrupting treatment continuity. This meta-analysis aimed to identify consistent risk factors for taxane-induced HSRs to support personalized risk assessments and optimize therapeutic outcomes. Methods: This systematic review and meta-analysis followed the PRISMA guidelines and was registered with PROSPERO (CRD42023476738). Comprehensive literature searches were conducted up to 30 June 2024. The quality of the studies was assessed using the Newcastle-Ottawa Scale. Data were synthesized to calculate pooled odds ratios (ORs) and 95% confidence intervals (CIs), using fixed or random effects models. Results: A total of 18 studies of moderate or higher quality were included, involving 8333 patients. The incidence of HSRs ranged from 3.0% to 33.1%. Risk factors assessed included history of allergy, obesity, postmenopausal state, ovarian cancer, and H2 receptor antagonist (H2RA) premedication. A history of allergy was identified as a potential risk factor with marginal significance (OR 1.85, 95% CI 0.97–3.54, p = 0.06), while H2RA premedication, ovarian cancer, and female sex were not significantly associated with HSR risk. Substantial heterogeneity was observed for obesity (I2 = 57.71%, p = 0.069) and postmenopausal status (I2 = 78.98%). Conclusions: This study highlights the complex nature of taxane-induced HSRs and emphasizes the need for personalized risk assessments. While a history of allergy is a potential risk factor, heterogeneity across other factors underscores the importance of individualized approaches. Clinicians should tailor strategies to balance the benefits of taxane therapy with patient-specific risks to improve clinical outcomes. Full article
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Article
Anatomical Facial Characteristics of Teeth and Tooth Analysis
by Sybrand Gerhard de Bruin, Sundika Ishwarkumar-Govender and Pamela Pillay
Dent. J. 2025, 13(1), 2; https://doi.org/10.3390/dj13010002 - 24 Dec 2024
Viewed by 313
Abstract
Background: This study aimed to document the angulation, inclination, and facial anatomical characteristics of teeth in a select South African population to determine if there are any population norms. Digital intra-oral scans were used, to analyze the morphology of teeth and measure the [...] Read more.
Background: This study aimed to document the angulation, inclination, and facial anatomical characteristics of teeth in a select South African population to determine if there are any population norms. Digital intra-oral scans were used, to analyze the morphology of teeth and measure the facial clinical crown. Methods: A quantitative observational research design with 60 3D intra-oral scans of a select South African population group was used. Morphometric analysis of 3D intra-oral scans was performed for a select South African population group, measuring the clinical crown height, width, angulation, and inclination of each tooth. Results: Significant differences in crown widths between male and female subjects were observed for several teeth in the maxillary and mandibular arches: males exhibited larger mean widths and larger crown dimensions than females. The South African Black group showed more sexual dimorphism compared to the South African Indian group. Clinical crown length and tooth angulation differed significantly between South African Indian and South African Black populations, while crown width and inclination remained consistent across these population groups and crown inclination between sex groups. Conclusions: Certain teeth exhibited notable variations between South African Indian and South African Black population groups; specifically, crown length and angulation had significant differences, whereas crown inclination and width remained consistent across these population groups. Full article
(This article belongs to the Special Issue Women's Research in Dentistry)
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