Nevin Manimala

Genet Med. 2026 Jan 21:102069. doi: 10.1016/j.gim.2026.102069. Online ahead of print.

ABSTRACT

BACKGROUND: Thoracic aortic aneurysms (TAA) are typically asymptomatic until rupture or dissection, with research indicating up to 20% may have a genetic basis. This study evaluates the prevalence of hereditary aortopathies and the utility of genetic testing in adults with TAA applying current ACC/AHA guidelines.

METHODS: We assessed 1,323 consecutive adult patients presenting for TAA evaluation between July 2022 and April 2025 at a large aortic center, enrolling 426 patients who underwent guideline-driven genetic testing. Median(IQR) age was 57 (50-64) years, 22.8% were female, and 11.3% had BAV. Mean aortic diameter was 4.6±0.48cm; 67.1% had TAA and 2.1% had dissections. Statistical analyses assessed the prevalence of genetic aortopathies and risk factors.

RESULTS: Of the 426 patients, 2.6% had diagnostic tests identifying pathogenic variants, 68.3% tested negative, and 29.1% had variants of unknown significance(VUS). Diagnostic tests were significantly associated with younger age(p=0.05) and root aneurysms(p<0.001). No VUS associations were demonstrated. Gender and BAV were not associated with diagnostic tests or VUS. TAA diagnosis <60 years and familial history had the highest utility of the ACC/AHA recommendations, but were not significant.

CONCLUSIONS: Our findings suggest a lower prevalence of genotype-positive TAA than previously reported in all TAA patients; highlighting the need for more refined genetic testing criteria focusing on high-risk individuals. Further research is essential to better define genetic testing’s role in TAA management.

PMID:41581011 | DOI:10.1016/j.gim.2026.102069

J Pediatr Endocrinol Metab. 2026 Jan 26. doi: 10.1515/jpem-2025-0733. Online ahead of print.

ABSTRACT

OBJECTIVES: This study aimed to evaluate changes in fear of hypoglycemia (FOH) and quality of life (QoL) following at least six months of continuous glucose monitoring (CGM) use in the same cohort with type 1 diabetes mellitus (T1DM).

METHODS: This was a prospective, observational study including first-time CGM users. Auxologic, laboratory, and CGM data was collected. All participants were asked to complete the validated Turkish versions of the Pediatric Quality of Life Inventory (PedsQL) 3.0 Diabetes Module for both children and parents; the quality of life for youth scale for adolescents; children’s hypoglycemia index (CHI).

RESULTS: When pre- and post-CGM scores were compared, the mean total CHI score significantly decreased (p=0.018). Among the subscales, significant reductions were also observed in the “specific situations” (p=0.044) and “behavior scales” (p=0.025) subscales, whereas the “general fears” did not show a significant change (p=0.396). In PedsQL forms, there were no statistically significant differences between pre- and post-CGM total or subscale scores. CGM metrics were also compared between participants who showed improvement in FOH and/or QoL and those who did not. Participants with improvement in FOH had significantly higher sensor active use percentages compared to those without improvement (98.95 vs. 93.0 %, p=0.039).

CONCLUSIONS: This study’s ability to assess pre- and post-CGM outcomes in the same patients highlights its clinical significance. Our findings suggest that using CGM in children and adolescents with T1DM is associated with a reduction in FOH.

PMID:41580998 | DOI:10.1515/jpem-2025-0733

Int J Epidemiol. 2026 Jan 2;55(1):dyaf227. doi: 10.1093/ije/dyaf227.

ABSTRACT

BACKGROUND: Italy, among the leading asbestos producers and users until the national ban in 1992, continues to register a high burden of asbestos-related diseases, mainly due to their long latency and delays in remediation. This study investigates the spatio-temporal evolution of pleural mesothelioma (PM) mortality over the past 40 years.

MATERIALS AND METHODS: Malignant pleural tumours and PM deaths (1980-2020) were extracted from the national death registry, adjusted for misclassification of pleural tumours, and analysed by region and birth cohort (1905-1984). The analyses by calendar period and cohort, stratified by sex assigned at birth, were followed by a space-cohort Bayesian Hierarchical Model with structured random effects for time (cohorts up to 1960-1969) and space (administrative regions).

RESULTS: In Italy, from 1980 to 2020, 35 134 people died from PM (24 380 males and 10 754 females). A mortality decrease was observed in males after 2010-14 and in females after 2000-4. Mortality steadily declined in both males and females across cohorts after 1935-44. The space-time analysis enabled the clear identification of the Italian regions most affected by PM.

CONCLUSION: Italy’s trend mirrors those of other Western countries that have banned asbestos, with the highest risks for birth cohorts in working age before the ban. The results reveal distinct spatio-temporal patterns, with the northern regions exhibiting the highest rates. The Italian experience with asbestos-related diseases detection could help other countries to assess the impact of asbestos, raise awareness, and promote a global ban on asbestos.

PMID:41580970 | DOI:10.1093/ije/dyaf227

Appl Neuropsychol Child. 2026 Jan 25:1-11. doi: 10.1080/21622965.2026.2620685. Online ahead of print.

ABSTRACT

This study investigated the genetic and neurocognitive distinctions between the cases with Attention-Deficit/Hyperactivity Disorder (ADHD)-only, ADHD+ Oppositional Defiant Disorder (ODD), and typically developing controls (TDCs) by analyzing Synapsin (SYN) III gene polymorphisms and neurocognitive profiles. A total of 59 children with ADHD only, 42 children with ADHD+ODD, and 100 TDCs were evaluated through comprehensive genotyping of SYN III gene polymorphisms, a neurocognitive assessment using CNS Vital Signs test battery, an IQ evaluation, and a semi-structured psychiatric interview. Parents completed the Turgay ADHD Rating Scale IV. The presence of rs133946 C/G in the second haplotype was significantly less prevalent in ADHD+ODD cases (p < 0.001). The absence of C/G haplotype in SYN III rs133946 polymorphism was significantly associated with a heightened risk of ADHD+ODD (β = 2.49, OR = 12.14, p = 0.001) compared to ADHD-only. Neurocognitive analyses revealed that individuals having more rs133946 polymorphism C/G haplotype units exhibited higher Stroop Test-Simple Reaction Time scores (β = 49.50, p = 0.044), despite shared executive function and memory impairments across ADHD groups. However, there were no statistically significant direct differences between ADHD-only and ADHD+ODD groups across all neurocognitive test scores, although both clinical groups differed from TDCs in distinct ways across several tests. The findings suggest that the absence of C/G haplotype in the SYN III rs133946 polymorphism may serve as a genetic marker for ODD comorbidity in ADHD. Although the counter-intuitive association between the absence of C/G haplotype, faster reaction times, and ODD comorbidity may seem beneficial on the surface, it may be one of the potential underlying mechanisms of increased impulsivity or reduced inhibitory control in children with ADHD+ODD.

PMID:41580961 | DOI:10.1080/21622965.2026.2620685

Worldviews Evid Based Nurs. 2026 Feb;23(1):e70114. doi: 10.1111/wvn.70114.

ABSTRACT

BACKGROUND: Evidence-based practice (EBP) is widely endorsed as a cornerstone for high-quality, patient-centered care. However, its integration into daily clinical routines remains inconsistent, particularly in settings where cultural, educational, and organizational challenges persist. Reliable, contextually adapted tools are essential to measure EBP implementation and guide improvement efforts.

AIMS: This study aimed to validate the Italian versions of the EBP Implementation Scale and its short-form (3-item) version.

METHODS: A cross-sectional survey design was adopted. Both versions of the EBP Implementation Scale were translated and culturally adapted in accordance with internationally recognized guidelines. Data were gathered from a national sample of 405 nurses through a combination of convenience and snowball sampling. Psychometric assessment encompassed confirmatory and Bayesian factor analyses, evaluation of internal consistency and test-retest reliability, and measurement invariance testing. All analyses were performed in R Studio.

RESULTS: Confirmatory factor analyses confirmed that both versions (long and short) of the scale measure a single underlying construct. The instruments demonstrated high reliability (ω = 0.96 and 0.87 respectively). Measurement invariance across educational groups was partially established, as the partial scalar invariance model demonstrated acceptable fit (CFI = 0.991, RMSEA = 0.045), suggesting consistent interpretation of the scale across different levels of EBP training. Latent profile analysis revealed distinct subgroups of EBP implementers, with notable differences in latent means (p < 0.001) associated with previous education in evidence-based practice.

DISCUSSION: The Italian EBP Implementation Scales are valid and reliable tools for assessing EBP implementation behaviors. They can support education planning, monitor practice changes over time, and inform interventions aimed at enhancing evidence-based care.

PMID:41580886 | DOI:10.1111/wvn.70114

Inj Epidemiol. 2026 Jan 24. doi: 10.1186/s40621-026-00656-7. Online ahead of print.

ABSTRACT

BACKGROUND: Firearm violence in the United States is highly concentrated within specific demographic, economic, geographic, and social population groups. Prior research indicates elevated violence exposure among gang-involved individuals, but the extent and mental health implications of firearm victimization at the national level remain poorly understood.

METHODS: We analyzed data from a national online survey of 10,000 U.S. adults fielded in 2024. Respondents self-reported lifetime gang membership and lifetime exposure to five forms of firearm victimization: presence at a mass shooting, gun threats, being shot at without injury, accidental gunshot injury, and intentional gunshot injury. Weighted descriptive statistics compared prevalence by lifetime gang status. Multivariable logistic regression estimated adjusted odds ratios controlling for several covariates. Among victims of firearm violence, self-reported psychological impacts, including anxiety, fear, depression, panic attacks, and post-traumatic stress symptoms, were assessed.

RESULTS: People with a history of gang involvement reported substantially higher lifetime exposure to all forms of firearm victimization. After adjustment, gang involvement was associated with 2-4 times greater odds of firearm exposure across outcomes. Psychological impacts following firearm victimization were prevalent in both gang and non-gang groups. Differences in reported mental health impacts by gang status were generally modest, with relatively few statistically significant differences in adjusted models.

CONCLUSIONS: Firearm victimization is highly concentrated among people with a history of gang involvement, and such exposure is associated with substantial psychological distress. Mental health impacts were broadly similar across gang-involved and non-gang victims. These findings highlight the importance of recognizing gang-involved adults as a population with disproportionate exposure to firearm violence and significant trauma-related needs within a public health framework.

PMID:41580880 | DOI:10.1186/s40621-026-00656-7

BMC Rheumatol. 2026 Jan 24. doi: 10.1186/s41927-025-00612-w. Online ahead of print.

NO ABSTRACT

PMID:41580876 | DOI:10.1186/s41927-025-00612-w

Cancer Imaging. 2026 Jan 24. doi: 10.1186/s40644-026-00995-0. Online ahead of print.

NO ABSTRACT

PMID:41580866 | DOI:10.1186/s40644-026-00995-0

Parasit Vectors. 2026 Jan 24. doi: 10.1186/s13071-025-07209-9. Online ahead of print.

ABSTRACT

BACKGROUND: The control of toxoplasmosis relies on conventional chemotherapeutics, which have hitherto unresolved concerns.

METHODS: Swiss albino mice were intraperitoneally (IP) infected with 5 × 10³ tachyzoites of RH HXGPRT( -) strain of Toxoplasma gondii, then IP treated with one-fourth lethal dose 50 (one-fourth LD50) of Cerastes cerastes venom (CCV) for three consecutive days (LD = 0.535 mg/kg). The anti-Toxoplasma activity of CCV was evaluated, for the first time, in immunocompetent (IC) and immunosuppressed (IS) mice via estimation of their mortality and survival time, microscopical counting of peritoneal tachyzoites, measurement of liver parasite burdens using quantitative real-time polymerase chain reaction (qRT-PCR), detection of infectivity, and ultrastructural changes of the treated tachyzoites. The safety of the used dose was biochemically assessed by measuring liver, kidney, and oxidative stress markers in serum.

RESULTS: CCV induced an insignificant reduction in mortality rate (MR) and a significant increase in survival time of mice. A statistically significant decrease in the mean peritoneal parasite burden with 89.8% and 90.8% reduction (%R) was observed in both IC and IS-treated subgroups compared with their controls, respectively. This reduction was consistent with 88% and 86% decrease in liver parasite load, respectively, and obvious ultrastructural alterations in treated tachyzoites. Concerning the infectivity study, the percent reduction was 78.8% and 85.5% in the peritoneal fluid and 71.1% and 60.4% in the liver tissues of IC and IS subgroups, respectively. The biochemical safety of the used dose and its high antioxidant activity were verified.

CONCLUSIONS: Thus, one-fourth LD50 of CCV can be considered a promising, effective natural alternative to standard chemotherapy for acute toxoplasmosis.

PMID:41580860 | DOI:10.1186/s13071-025-07209-9

J Orthop Surg Res. 2026 Jan 24. doi: 10.1186/s13018-026-06678-7. Online ahead of print.

ABSTRACT

BACKGROUND: Previous studies have shown that let-7c-5p is significantly expressed at a lower level in the serum of fracture patients, suggesting that it may play a role in bone repair. Therefore, this study aims to explore how let-7c-5p regulates osteogenic differentiation in tibial fractures.

METHODS: A total of 80 patients with tibial fractures and 83 healthy individuals were included in this study. The level of let-7c-5p in the serum were detected by RT-qPCR. Osteoblast cell line (MC3T3-E1) were cultured in vitro to induce osteogenic differentiation. RT-qPCR was used to detect the expression of let-7c-5p and osteogenic differentiation markers. The activity of alkaline phosphatase (ALP) was determined using an ALP assay kit. Dual-luciferase reporter gene assay and RNA immunoprecipitation were used to verify the targeting relationship between let-7c-5p and CDK8.

RESULTS: In the early stage of tibial fractures, the level of let-7c-5p in the patient’s serum was significantly lower than that of the control group, and as the healing processes progressed, its level gradually increased. In osteogenic induction, let-7c-5p, the activity of ALP, and the levels of osteogenic markers all increase. Increasing the level of let-7c-5p significantly enhanced the expression of osteogenic markers, while inhibiting its expression would weaken this effect. let-7c-5p directly targeted and negatively regulated the expression of cyclin-dependent kinase 8 (CDK8). Overexpression of CDK8 could reverse the osteogenic effect mediated by let-7c-5p.

CONCLUSION: During the healing process of tibial fractures, let-7c-5p promotes osteogenic differentiation by inhibiting CDK8, thereby accelerating fracture healing.

PMID:41580834 | DOI:10.1186/s13018-026-06678-7