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- Research Article
- 10.1016/j.humimm.2026.111712
- May 1, 2026
- Human immunology
- Marcelo Cleyton Da Silva Vieira + 6 more
Association between IL-17A (rs2275913), IL-4 (rs2070874), NLRP3 (rs10754558) polymorphisms and COVID-19 in a cohort of professionals who worked in the first pandemic wave.
- Research Article
- 10.2196/86489
- Apr 7, 2026
- JMIR Infodemiology
- Victoria Sze Min Ekstrom
Nearly 1 in 4 young adults has a chronic condition, yet many feel well despite their diagnosis. Asymptomatic conditions such as prediabetes and hypertension create a unique vulnerability to digital health misinformation, particularly on platforms where inaccurate content is prevalent. Conventional clinical responses, which often just warn patients about online misinformation, fail to address the underlying drivers of this behavior. This viewpoint proposes a novel disease characteristic–based vulnerability framework to understand this challenge, grounded in established behavioral science theories such as the capability, opportunity, and motivation–behavior model; temporal discounting; and the concept of information voids in infodemiology. We identify a critical “information void” for asymptomatic conditions managed primarily through lifestyle modification. This void, created by the absence of symptomatic feedback combined with delayed clinical biomarker feedback, compels patients to seek information online. Instead of viewing this information seeking as a problematic deviation, we reframe it as a “digital phenotype” indicating a patient’s readiness for behavior change. Through case studies illustrating how this framework applies to specific conditions (prediabetes, nonalcoholic fatty liver disease, and untreated hypertension), we demonstrate its practical utility for clinicians, health systems, and policymakers. Evidence supports a multipronged approach: integrating digital health literacy into clinical encounters, providing curated evidence-based resources, and pursuing strategic institutional engagement in digital spaces. While acknowledging the framework’s deliberate simplification and the need for culturally sensitive adaptation across diverse health care settings, this viewpoint offers a generalizable strategy for engaging with patients’ information needs, helping transform a public health challenge into an opportunity for empowerment.
- Research Article
- 10.1038/s41598-026-45642-7
- Mar 31, 2026
- Scientific reports
- Mehwish Roy + 4 more
Strawberry is cultivated in both soil-based field and substrate-based soilless hydroponic systems, yet how cultivation context shapes root-associated bacterial communities and their interaction architecture remains unclear. We compared root-associated bacterial communities from field root-associated soil and hydroponic root-adhering substrate under asymptomatic and symptomatic conditions using 16S rRNA gene amplicon sequencing. Cultivation system was the primary driver of community structure, clearly separating field and hydroponic samples. Field communities were enriched in Firmicutes and Actinobacteria, such as Bacillaceae and Nocardioidaceae, whereas hydroponic communities showed higher relative abundances of Proteobacteria, Bacteroidetes, Planctomycetes, and Verrucomicrobia, including Chitinophagaceae and Sphingomonadaceae. Differential abundance and Random Forest analyses revealed consistent enrichment of Bacillus-associated ASVs in field samples, whereas asymptomatic and symptomatic communities showed greater compositional differentiation in hydroponic than in field samples.. Co-occurrence network analysis further demonstrated that hydroponic communities contained more taxa and interactions but exhibited lower density and clustering compared to field communities, indicating reduced structural cohesion. These findings demonstrate that cultivation system strongly influences both the composition and structural organization of strawberry root-associated bacterial communities, with implications for microbiome-informed disease management in intensive production systems.
- Research Article
- 10.24248/easci.v8i1.130
- Mar 27, 2026
- East Africa Science
- Ezekiel B Gamuya + 6 more
Background: Bacterial vaginosis is a prevalent and often asymptomatic vaginal condition affecting women of reproductive age, posing significant reproductive health risks. Despite its importance, data on BV prevalence, microbial profiles, and associated factors at Kilimanjaro Christian Medical Centre, a major tertiary hospital in northern Tanzania, remain limited. Therefore, this study aimed to address these gaps. Methods: This was a three-year retrospective laboratory based study of 891 high vaginal swab samples collected from women aged 15–49 years at KCMC between January 2021 and December 2023. Bacterial vaginosis was diagnosed using Amsel criteria and Nugent scoring. Demographic and clinical data were retrieved from the hospital electronic medical system. Data were analysed using descriptive and inferential statistics. P value of <.05 was considered statistically significant. Results: Overall prevalence of bacterial vaginosis was 324 (36.4%). The majority of the studied vaginal samples belonged to women aged 25–34 years 359 (40.3%), and most samples were collected from the Outpatient Department 618 (69.4%). Microbiological analysis revealed that no bacterial growth was the most common finding 565 (63.4%), followed by Candida albicans 205 (23.0%) and Escherichia coli 58 (6.5%). In multivariable logistic regression, attendance at the Labour Ward was significantly protective against BV (AOR = 0.096; 95% CI: 0.012–0.787; P= .029), while the year of sample collection also predicted BV: samples from 2022 had reduced odds (AOR=0.63; 95% CI: 0.40–0.96; P=.035), and samples from 2023 had increased odds (AOR=2.24; 95% CI: 1.51–3.32; P<.01) compared to 2021. Age category and individual microorganisms were not independent predictors of BV. Conclusion: This study showed a high prevalence of bacterial vaginosis (36.4%) with flactating trend among women of reproductive age at KCMC. The most affected were women of reproductive age attending labour ward. The high prevalence among pregnant women has important reproductive health implications, highlighting the need for routine screening to prevent adverse pregnancy outcomes.
- Research Article
- 10.3390/cancers18071084
- Mar 26, 2026
- Cancers
- Daniela Cambria + 16 more
Background/Objectives: FcγRIIIA presents a single nucleotide polymorphism at position 158 (V/F), which affects its binding affinity to the fragment crystallizable (Fc) of antibodies (Abs). In the presence of immune complexes, FcγRIIIA can mediate the inflammatory signaling, severity of bone disease, and osteoclastogenic activity. Based on this functional relevance, we hypothesized that the FcγRIIIA F158V polymorphism may influence the clinical presentation of multiple myeloma (MM). Methods: FcγRIIIA F158V genotyping was performed on genomic DNA extracted from peripheral blood samples of patients affected by MM or asymptomatic conditions named MGUS and SMM. We compared the allele frequency of FcγRIIIA-F158V polymorphism in 72 MM, 42 MGUS and 31 SMM and evaluated the association with clinical features and occurrence of high-risk chromosome abnormalities. Targeted NGS mutation analysis was performed on genomic DNA isolated from purified CD138+ bone marrow plasma cells (BMPCs) of 41 patients, to evaluate the association between somatic mutations and the FcγRIIIA F158V genotype. Results: the FcγRIIIA-158 V/V homozygous genotype was associated with high-risk cytogenetics, anemia, high beta-2 microglobulin levels, and more than 10 osteolytic lesions. V/V homozygous genotype was significantly associated with at least one mutation in RAS pathway genes (N-RAS, K-RAS or B-RAF). In the immune microenvironment, patients carrying the V/V homozygous genotype had a higher percentage of CD14+CD16++ non-conventional inflammatory monocytes than the V/F or FF genotype. Conclusions: Our study contributes to a better understanding of the interactions between genetic variants, tumor microenvironment, and therapeutic response in plasma cell dyscrasias, to identify molecular biomarkers for precision medicine in MM, MGUS and SMM.
- Research Article
- 10.1007/s44250-026-00355-6
- Feb 25, 2026
- Discover Health Systems
- Janmejaya Samal + 1 more
The COVID-19 pandemic was unlike anything the world had ever seen, and the whole world grappled with this scourge. Although currently the COVID-19 pandemic is no longer a public health challenge, the unprecedented utilization and integration of Ayush therapeutics and principles for the COVID-19 response represent a critical health systems and policy experiment which needs a systematic evaluation. A systematic review and meta-analysis was conducted, and the data were extracted till 9th July 2024 using three databases: Scopus, PubMed and DOAJ and a total of seven articles were included for the review, following the PICOS criteria of inclusion and exclusion. Of the 667 articles, seven articles were finally selected, and these articles underwent quality assessment using the AXIS assessment tool. The pooled proportion of the Indian population that utilized the Ayush systems was estimated at a 95% confidence interval, using a random effects model assuming potential heterogeneity. The pooled estimate, publication bias, heterogeneity and sensitivity analysis were graphically represented using a forest, funnel, Galbraith plots and leave-one-out meta-analysis. Additionally, the effects of the small studies were assessed using Egger’s and Begg’s tests. The total sample across the included studies was 789,735. Of the seven articles, six focused on the general population, and five focused on the utilization of the Ayurveda system of medicine. The pooled proportion of the Indian population that utilized the Ayush systems for COVID-19 was 40% (95% CI: 25% − 57%). Based on the policy relevance, risk of exposure, access to guidelines and pattern of utilization two subgroup analyses were carried out. Utilization of multiple systems of Ayush (48%) and utilization among the general population (46%) showed the highest proportion compared to Ayurveda and healthcare workers, respectively. The high heterogeneity (I2 = 99.98%) suggests that the pooled estimate should be interpreted with caution, and the sensitivity analysis found one study had a modest upward influence on the overall estimate. This systematic review found a 40% pooled estimate of utilization of Ayush systems from the included studies, suggesting the utilization of these systems to manage mild and asymptomatic conditions and for preventive purposes.
- Supplementary Content
- 10.1155/crid/8865188
- Feb 9, 2026
- Case Reports in Dentistry
- Lucrezia Parma-Benfenati
BackgroundExternal cervical root resorption (ECRR) is an uncommon and often asymptomatic condition whose early diagnosis is challenging. When located on the buccal aspect of posterior teeth, treatment should address both lesion control and long‐term periodontal stability.Case PresentationA 67‐year‐old healthy, nonsmoking female presented with RT1 gingival recessions in the mandibular right sextant and a cervical defect on Tooth #28. Clinical and radiographic evaluation confirmed ECRR with a favorable prognosis. Treatment included a partial‐thickness flap for surgical access, complete debridement of the defect, minimal osteoplasty, and restoration under rubber dam isolation. A free gingival graft harvested from the palate was placed to increase keratinized tissue and deepen the vestibule. At 3‐ and 15‐month follow‐ups, the tooth remained vital and asymptomatic, the graft showed stable integration, and radiographs demonstrated no progression of the lesion.ConclusionsIn non‐esthetic posterior areas, a combined restorative–periodontal approach with a free gingival graft can successfully manage ECRR while enhancing keratinized tissue and supporting long‐term periodontal health.
- Research Article
- 10.3390/diagnostics16030497
- Feb 6, 2026
- Diagnostics (Basel, Switzerland)
- Joanna Gołębiewska + 4 more
Background/Objectives: To investigate the rate of exudative progression over time in patients with non-exudative macular neovascularization (NE-MNV) associated with various acquired macular degenerations presenting with a double-layer sign (DLS) or triple-layer sign (TLS) on optical coherence tomography (OCT), and to identify potential predictors of this progression. Methods: Fifty-one eyes of fourty-nine patients with a DLS or TLS on OCT images were identified. OCT angiography (OCTA) was performed to detect NE-MNV, and only eyes with confirmed NE-MNV were included in the final analysis. Central macular thickness (CMT), choroidal thickness (CT), morphology of the abnormal vessels, the duration of follow-up, progression to active exudative MNV, and the status of the contralateral eye were assessed. Results: The final analysis included 32 eyes of 30 participants with NE-MNV. The median observation period was 46 months. The causes of NE-MNV were age- related macular degeneration (AMD) in 59.38% of eyes, pachychoroid epitheliopathy (PPE) in 37.50%, and other causes in 3.12%. Exudation developed in 15.62% of eyes (median time to onset: 24 months), predominantly in the AMD subgroup. Abnormalities in the fellow eye were present in 59.38% of cases. Neither age nor other factors, including sex, cause of MNV, CMT, CT, MNV morphology, or fellow eye status, were statistically significant predictors of progression to active MNV (p = 0.67, p > 0.99, p = 0.62, p = 0.09, p = 0.09, p = 0.2, p = 0.62, resp.). Conclusions: NE-MNV is an asymptomatic condition that may occur in the course of various retinal diseases. While DLS and TLS demonstrate high sensitivity and specificity for the diagnosis of NE-MNV, their presence does not always indicate concurrent MNV. Multimodal imaging is essential for accurate monitoring of these patients and detection of potential disease progression.
- Research Article
- 10.1038/s41467-026-68718-4
- Feb 5, 2026
- Nature communications
- Kane A Foster + 27 more
Multiple myeloma (MM) is associated with skewed T cell activation and function which is present in asymptomatic myeloma precursor conditions, but underlying mechanisms of progression remain undefined. Here, we assemble a large single-cell RNA sequencing dataset of the bone marrow and blood from patients with MM, precursor conditions, and non-cancer controls. We demonstrate that, unlike solid cancers, MM is not characterized by T cell exhaustion, but by antigen-driven terminal memory differentiation. This is influenced by tumour-intrinsic features including tumour burden and expression of antigen-presentation genes. Expanded TCR clones accumulating in MM are not enriched with viral specificities but accumulate in effector states in highly-infiltrated marrows. Additionally, we identify a role for T cell dynamics in patients treated with autologous stem cell transplantation and demonstrate T cell features predict progression from precursor to symptomatic MM. Together, these results suggest that anti-tumour immunity drives a distinctive form of cancer-associated T cell differentiation in MM.
- Research Article
- 10.3269/1970-5492.2016.11.08
- Jan 12, 2026
- EuroMediterranean Biomedical Journal
- Marcello Natali + 4 more
Introduction: Thoracic splenosis is an acquired rare condition, resulting from heterotopic autotransplantation of splenic parenchyma into chest, usually after traumatic spleen and diaphragm rupture.Methods and Results: This paper describes the thoracic splenosis, as an incidental diagnosis and asymptomatic condition, 34 years after a thoracoabdominal trauma in a patient who underwent radiological investigations due to a 15 kg weight loss in the previous four months: the only abnormalities found were thoraco-parapericardial and abdominal nodules of splenosis.Discussion: Thoracic splenosis is a rare condition, usually following a thoracoabdominal trauma with concomitant lesions of the spleen and diaphragm, which allow thoracic implantation of splenic tissue. Patients are generally asymptomatic, and the condition is discovered incidentally during radiological investigations, which allow certain diagnosis without using invasive methods. Excision of splenosis should be considered for symptomatic patients or unconfirmed diagnosis.Conclusions: Thoracic splenosis iS a rare condition. Imaging investigations allow to diagnose the condition, and excision of splenosis is not suggested for asymptomatic patients.
- Research Article
- 10.1155/crdi/5308187
- Jan 1, 2026
- Case reports in infectious diseases
- Alexander Kaminsky + 5 more
Coccidioidomycosis is a fungal infection that primarily manifests as an asymptomatic condition caused by inhalation of fungal spores. Less commonly, patients can develop dissemination to extrapulmonary locations such as the skin or primary cutaneous inoculation of the fungus at a site of trauma. These cutaneous complications are primarily found among immunosuppressed individuals. Here, we present a patient with no relevant past medical history that, after living in an area to which Coccidioides is endemic, developed a slowly growing, pruritic plaque on his right thigh with well-demarcated areas of hypopigmentation and lichenification with erythematous borders; after several inconclusive biopsies, fungal spherules characteristic of coccidioidomycosis were found on pathology. Along with morphologic evidence of trauma at the site of the infection, the most likely diagnosis was determined to be primary cutaneous coccidioidomycosis. This case is notable for several reasons. First, the patient had a persistent cutaneous coccidioidomycosis infection, with a rare clinical presentation, despite no history of immunocompromising conditions or medications. Second, the patient experienced disease progression while on an empiric trial of a Janus Kinase (JAK) inhibitor. Taken together, these findings may suggest a clinical distinction between the presentation of cutaneous fungal infections in immunocompetent and immunocompromised patients.
- Research Article
- 10.1136/bmjopen-2025-106485
- Jan 1, 2026
- BMJ Open
- Peter Allmark + 6 more
ObjectiveTo examine how patients and family members decide whether to accept a highly invasive intervention (aortic valve replacement (AVR)) when their condition (aortic stenosis (AS)) is asymptomatic and its course uncertain.DesignNested, longitudinal, qualitative substudy of an ongoing randomised controlled trial (RCT) (NCT04204915) testing early intervention (EI) versus watchful waiting (WW) in patients with asymptomatic severe AS.SettingSix select UK sites of the RCT.ParticipantsSelect participants of the RCT, their next-of-kin and some who declined RCT participation.Results73 interviews were conducted, with 41 participants.Few knew much about AS before diagnosis. Uncertainty and the need for reliable information regarding symptoms and progress was a significant problem.While some expressed unease at a major intervention for an asymptomatic condition, there were no outright objections to the idea.Those who declined participation in the RCT did so for personal reasons, for example, their home circumstances did not permit the required period of recovery or they felt too old to risk intervention.Reasons for accepting early intervention included the belief that the condition was serious and likely to deteriorate, and so better to have the intervention before such deterioration, as well as avoiding long waiting lists. Trusting clinicians’ judgement played a part in some decisions. Patients also wanted choice in the type of intervention received.The longitudinal interviews (n=32) showed satisfaction in the early intervention group despite some problems in the the early recovery phase, especially for those undergoing surgical AVR.ConclusionsWhere evidence supports major intervention for an asymptomatic condition, patients are likely to accept the offer, although personal circumstances play an important role in decision-making. Where a condition is not well known to the public, such as AS, patients rely on clinicians and other resources to help decide. Liaison with patient groups in developing shared decision-making resources may help with complex decisions.Trial registration numberNCT04204915
- Abstract
- 10.1002/alz70856_103242
- Dec 26, 2025
- Alzheimer's & Dementia
- Agnès Pérez‐Millan + 10 more
BackgroundThe Cortical Asymmetry Index (CAI) evaluates brain asymmetry, showing increased asymmetry in sporadic Alzheimer's Disease (AD). We investigate CAI in asymptomatic (AMC) and symptomatic (SMC) mutation carriers of Autosomal Dominant Alzheimer's Disease (ADAD).MethodBaseline T1‐weighted MRI were collected from the ADAD cohort at Clínic Barcelona (Clinic Barcelona cohort), including SMC (N = 19), AMC (N = 22), and healthy controls (CTR) (N = 19). The Dominantly Inherited Alzheimer Network observational study (DIAN‐OBS) provided longitudinal MRI data as a second cohort (DIAN cohort), including SMC (N = 115), AMC (N = 234), and CTR (N = 215). In the DIAN cohort, SMC participants were subdivided into mild cognitive impairment (SMC‐MCI, CDR=0.5) and AD (SMC‐AD, CDR≥1). Available cerebrospinal fluid (CSF) and plasma neurofilament‐light chain (NfL) levels were included. Cortical thickness was analysed using Freesurfer, and CAI was calculated using the open‐source pipeline. Cross‐sectional analyses assessed diagnosis and APOE4 differences, adjusting for age, sex, and estimated years from onset (EYO), and correlations between CAI and age, EYO, MMSE, and NfL. Longitudinal progression differences were examined using GAM models according to EYO with the DIAN cohort, using as fixed effects age, sex and the interaction between the group and EYO.ResultCAI distinguished AMC and SMC from CTR in Clinic Barcelona cohort, and differentiated SMC‐AD from CTR and AMC in DIAN cohort (Figure 1). Carriers and SMC in the Clinic Barcelona cohort exhibited higher CAI, linked to elevated plasma‐NfL, advanced EYO and lower MMSE. In DIAN cohort, carriers showed higher CAI associated with elevated NfL (plasma and CSF), reduced MMSE and advanced EYO (also for SMC‐AD). DIAN cohort APOE3/3 showed differences from other APOE genotypes in carriers and distinctions between AMC and SMC (Figure 2). In the DIAN cohort, SMC and SMC‐AD presented a significant CAI increase over time (Figure 3).ConclusionADAD individuals show increased brain asymmetry as the disease progresses and correlate with key biomarkers in both cohorts. APOE3/3 showed higher levels of asymmetry than the other APOE genotypes. Longitudinally, CAI increases significantly in SMC and SMC‐AD, highlighting its potential as a marker for disease monitoring. These findings highlight CAI's potential as a tool for early detection and tracking of AD progression
- Research Article
- 10.18781/r.mex.fit.2506-2
- Dec 22, 2025
- Revista Mexicana de Fitopatología, Mexican Journal of Phytopathology
- Gustavo Mora-Aguilera + 5 more
Background/Objective. This study analyzed for the first time the asymptomatic condition induced by CLas in Citrus sinensis / C. aurantium based on initial reports in the Central Gulf region of Mexico. The objective was to analyze with a mechanistic approach the spatial-temporal concentration of CLas at the plant level in commercial orchards to demonstrate the possible implication of a prolonged incubation period in the asymptomatic expression of HLB. Materials and Methods. Two out of three trees (A1-A3) (>30 years old) of asymptomatic Valencia sweet orange trees positive for CLas, identified through official diagnostic protocols in San José Acateno, Puebla, were confined. On trees A2 and A3, 13 and 16 secondary branches were marked, with a total of 112 and 108 foliage/samples per month, respectively (total 646 samples), obtained from the distal and proximal parts of each branch. Seven monthly samplings of plant material were carried out between May and December. At the root level, three categories were sampled by diameter/function and by a combination of six distal trunk sectors (0 - 280 cm) by 4 in depth (0 x 110 cm) with a total of 111 samples. DNA extraction was performed with 2% CTAB and quantification by RT-qPCR (oligos, HLBp/HLBas). Results. In canopy, the incidence/branches in A3 was 52.2% (Ct = 22.7 – 34.9), and in A2 47.8% (Ct = 23.4 –35), with no statistical difference (p = 0.48). The inoculum load was 1.6 (±1.3) log-CLas, equivalent to 109 copies/reaction in 100 mL (range in number of copies 6.3 to 68,870.7). CLas did not differ between distal (1.6 log) and proximal (1.5 log) samples (p = 0.33). Significative temporal fluctuation was found between June and October in positive samples (37 – 87, p < 0.0001), but not in CLas concentration (1.6 – 3.5 log-CLas, p > 0.72). The distribution of CLas by branch had a temporal effect (p = 0.0001) and by sector (p = 0.07), showing high mobility and seasonality. The maximum concentration (Ymax) was associated with the middle-upper sector of the canopy, and high mobility towards the lower and upper sectors in Yinitial and Yfinal. In roots, 38.7% positivity was found. The detectability of CLas was homogeneous among root types (p < 0.0001) but variable in concentration (p = 0.04). The 47.6%, 15.4%, and 38.7% incidence was associated with 38.3, 43.4, and 9.5 average CLas copies for support, conduction, and absorption roots, respectively (p = 0.0001). Two sections with higher CLas intensity-concentration (80 – 144 copies) were associated with roots in the middle drip zone (160 – 240 cm) and medium depth strata (50 – 80 cm). Conclusion. CLas was significantly and consistently detected in plant and root tissue throughout the experimental period, but at fluctuating, non-incremental concentration, analogous between trees A2 and A3. The wide canopy-root distribution suggests a chronic systemic effect. Consequently, the incubation period does not determine the asymptomatic condition in the sweet orange/sour orange productive system investigated. Other factors, e.g. inherent to pathogen variability, could be involved. These results contribute to optimizing a surveillance-monitoring system considering seasonality, zone-branch, sector-canopy and type of tissue, with a greater probability of detection of CLas even in an eventual asymptomatic condition and generate new insights for Clas management.
- Research Article
- 10.20473/ijdm.v8i2.2025.81-85
- Dec 2, 2025
- Indonesian Journal of Dental Medicine
- Sindy Cornelia Nelwan + 3 more
Background: Intrusive luxation is one of the most severe types of dental trauma, especially in children with immature permanent teeth. Immediate and appropriate management is crucial to preserve pulp vitality and ensure proper root development. Purpose: This case report aims to present the management of an intruded immature permanent maxillary incisor in a pediatric patient through surgical repositioning and flexible splinting. Case: An 8-year-old boy presented three days after a football-related fall with a 6 mm intrusion of the permanent maxillary right central incisor. The tooth showed no mobility, and no root fracture was detected radiographically, although the periodontal space was reduced. Case Management: Due to the severity of the intrusion, immediate surgical repositioning under local anesthesia was performed. The tooth was carefully luxated and repositioned, followed by splinting using brackets and ligature wire from tooth #54 to #63 for three weeks. Antibiotics, analgesics, and antiseptic mouth rinse were prescribed. The tooth was kept out of occlusion, and pulp testing at three weeks indicated vitality. The splint was removed without complications, and a five-month follow-up confirmed stable teeth, an asymptomatic condition, and ongoing root and periodontal healing. Conclusion: Early surgical repositioning combined with flexible splinting can yield favorable outcomes in managing intrusive luxation in immature permanent teeth. Timely intervention and continuous follow-up are essential to preserve pulp vitality, support root development, and prevent complications such as resorption and ankylosis.
- Abstract
- 10.1002/alz70862_110715
- Dec 1, 2025
- Alzheimer's & Dementia
- Agnès Pérez‐Millan + 10 more
BackgroundThe Cortical Asymmetry Index (CAI) evaluates brain asymmetry, showing increased asymmetry in sporadic Alzheimer’s Disease (AD). We investigate CAI in asymptomatic (AMC) and symptomatic (SMC) mutation carriers of Autosomal Dominant Alzheimer’s Disease (ADAD).MethodBaseline T1‐weighted MRI were collected from the ADAD cohort at Clínic Barcelona (Clinic Barcelona cohort), including SMC (N = 19), AMC (N = 22), and healthy controls (CTR) (N = 19). The Dominantly Inherited Alzheimer Network observational study (DIAN‐OBS) provided longitudinal MRI data as a second cohort (DIAN cohort), including SMC (N = 115), AMC (N = 234), and CTR (N = 215). In the DIAN cohort, SMC participants were subdivided into mild cognitive impairment (SMC‐MCI, CDR=0.5) and AD (SMC‐AD, CDR≥1). Available cerebrospinal fluid (CSF) and plasma neurofilament‐light chain (NfL) levels were included. Cortical thickness was analysed using Freesurfer, and CAI was calculated using the open‐source pipeline. Cross‐sectional analyses assessed diagnosis and APOE4 differences, adjusting for age, sex, and estimated years from onset (EYO), and correlations between CAI and age, EYO, MMSE, and NfL. Longitudinal progression differences were examined using GAM models according to EYO with the DIAN cohort, using as fixed effects age, sex and the interaction between the group and EYO.ResultCAI distinguished AMC and SMC from CTR in Clinic Barcelona cohort, and differentiated SMC‐AD from CTR and AMC in DIAN cohort (Figure 1). Carriers and SMC in the Clinic Barcelona cohort exhibited higher CAI, linked to elevated plasma‐NfL, advanced EYO and lower MMSE. In DIAN cohort, carriers showed higher CAI associated with elevated NfL (plasma and CSF), reduced MMSE and advanced EYO (also for SMC‐AD). DIAN cohort APOE3/3 showed differences from other APOE genotypes in carriers and distinctions between AMC and SMC (Figure 2). In the DIAN cohort, SMC and SMC‐AD presented a significant CAI increase over time (Figure 3).ConclusionADAD individuals show increased brain asymmetry as the disease progresses and correlate with key biomarkers in both cohorts. APOE3/3 showed higher levels of asymmetry than the other APOE genotypes. Longitudinally, CAI increases significantly in SMC and SMC‐AD, highlighting its potential as a marker for disease monitoring. These findings highlight CAI's potential as a tool for early detection and tracking of AD progression
- Research Article
- 10.5603/fm.108175
- Nov 20, 2025
- Folia morphologica
- Aleksandra Gawlikowska-Sroka + 7 more
Anatomical variants such as the precondylar tubercle (PCT) and third occipital condyle (TOC) are rare bony projections located at the anterior margin of the foramen magnum. Though often asymptomatic, they can have clinical relevance in radiological and surgical contexts. Despite growing interest in these traits, their presence in European skeletal collections remains poorly documented. This study examined 126 crania from the historical collection curated at the Museum of Anthropology "Giuseppe Sergi" (MGS), Sapienza University of Rome. Biological profiles were reassessed using standard anthropological methods for sex determination and age estimation. Macroscopic evaluation focused on the presence of PCT and TOC, as well as associated traits such as bipartite hypoglossal canals. Eight crania presented PCTs; of these, two also exhibited TOC. In the latter specimens, the absence of postmortem damage allowed confident exclusion of fusion with the atlas or axis, suggesting an incidental occurrence and likely asymptomatic condition. Two specimens with PCT also displayed bipartite hypoglossal canals. Although the sample does not represent a population in the proper sense, these findings align with previously reported frequencies in modern collections and highlight potential developmental origins shared between PCT and TOC. The identification of PCT and TOC in a curated historical sample contributes to the documentation of rare morphological variants at the craniovertebral junction. These results underscore the relevance of skeletal collections in descriptive anatomy and support future multidisciplinary research integrating clinical, developmental, and evolutionary perspectives.
- Research Article
- 10.51473/rbmed.v1i1.2025.2
- Nov 12, 2025
- Revista Científica Brasileira de Saúde e Medicina (Brazilian Scientific Journal of Health and Medicine)
- Fabricio Chaves De Melo Castelo Branco
Cardiovascular diseases (CVDs) remain the leading cause of global mortality and have shown a concerning increase among young adults. This phenomenon is primarily driven by modifiable factors such as physical inactivity, inadequate diet, smoking, alcohol consumption, and stress. Recent literature highlights that early screening is an essential strategy for identifying these risk factors, enabling effective preventive interventions. This study conducted a narrative literature review using the databases PubMed, SciELO, and Google Scholar, covering publications from 2019 to 2025. A total of 28 articles addressing the prevention and early diagnosis of CVDs in young adults were analyzed. The results demonstrated that screening through simple tests—such as blood pressure measurement, blood glucose, and lipid profile—allows the detection of asymptomatic conditions and significantly reduces the risk of cardiovascular events. In addition to clinical benefits, a positive economic impact is observed, reducing costs related to hospitalizations and long-term treatments. It is concluded that early screening should be incorporated as a priority public health policy, integrating health education, risk screening, and continuous medical follow-up, with a special focus on young adults.
- Research Article
- 10.1093/eurheartj/ehaf784.3846
- Nov 5, 2025
- European Heart Journal
- M Saito + 7 more
Abstract Background Negative emotions, such as depression, are associated with a high risk of cardiovascular events and reduced quality of life (QOL). Conversely, laughter, a reflection of positive emotions and a potential contributor to improved vascular function, has not been comprehensively investigated in this context. Thus, this study aimed to evaluate the associations among laughter frequency, cardiovascular risk, and QOL in a cardiology outpatient population. Methods A survey of asymptomatic patients attending a cardiology outpatient clinic between April 2023 and March 2024 was performed. Patients with a clinical frailly scale score of ≥3, history of hospitalization, or inability to complete the questionnaire were excluded. Laughter frequency was assessed using a three-point scale (almost daily, 1–5 times a week, and 1–3 times a month). The relationship between laughter frequency and cardiovascular event risk (assessed using the Suita score as a surrogate marker) along with QOL measures (Kansas City Cardiomyopathy Questionnaire overall summary score and EuroQol 5 Dimension) was analyzed. Results Overall, 611 patients (median age, 71 years; male, 65%) were included. Laughter frequency was significantly higher in women than in men (p &lt; 0.01). Although no significant association was found between laughter frequency and cardiovascular event risk, a higher laughter frequency was positively associated with both QOL measures. After adjusting for age, sex, grip strength, B-type natriuretic peptide, Meta-analysis Global Group in Chronic Heart Failure score, smoking, exercise habits, gardening habits, pet ownership, and bathing habits, the association with improved QOL remained significant (Figure 1, upper panel, model 1). However, the strength of this association was attenuated after further adjustment for the depression indicator (Patient Health Questionnaire-2 score) (Figure 1, lower panel, model 2). Conclusion The self-reported frequency of laughter was not associated with cardiovascular event risk but showed a positive association with QOL. This association was attenuated after accounting for depression, which signifies partial mediation by mental health factors. Promoting laughter may serve as a simple, nonpharmacological approach to improve the QOL of patients with asymptomatic cardiac conditions, particularly through its effect on mental well-being.Figure1
- Research Article
1
- 10.1515/cclm-2025-1056
- Nov 4, 2025
- Clinical chemistry and laboratory medicine
- Cristina Agulló + 19 more
Monoclonal gammopathies (MGs) represent a diverse group of plasma cell disorders that range from asymptomatic premalignant conditions to aggressive malignancies such as multiple myeloma (MM). Mass spectrometry (MS) based serum analysis offers a non-invasive, highly sensitive alternative to conventional techniques for identifying and quantifying M-proteins. It enables more precise assessment of treatment response and residual disease, particularly in patients with suspected complete response (CR), those not eligible for bone marrow procedures, or those treated with monoclonal antibodies that may interfere with standard assays. This guideline document, endorsed by the Spanish Society of Laboratory Medicine (SEMEDLAB) and the Spanish Society of Hematology (SEHH), provides comprehensive recommendations for the clinical and analytical application of MS in the detection and monitoring of M-proteins in patients with MGs. The document outlines optimal use of MS at diagnosis, during follow-up, and in reporting practices, with a focus on standardized implementation, interpretative criteria, and clinical decision-making support.