Category: Statistics

Epilepsia Open. 2025 Sep 20. doi: 10.1002/epi4.70150. Online ahead of print.

ABSTRACT

OBJECTIVE: Alterations to brain structures and networks involved in central autonomic and respiratory control are possible biomarkers of SUDEP, but were mainly demonstrated in people at high risk. Postictal generalized EEG suppression (PGES) has been recorded in every case of near or confirmed SUDEP. The structural alterations underpinning PGES are not known.

METHODS: This retrospective study included the brain MRIs of 100 patients with focal and generalized epilepsy who had experienced at least one generalized tonic-clonic seizure (GTCS) documented through long-term video-EEG monitoring, with PGES defined as postictal EEG activity below 10 microvolts lasting at least 20 s. Brain MRIs were parcellated into cortical and subcortical volumes, with further parcellation of thalamic subfields, and univariate and multivariate logistic regression models were applied to identify brain regions associated with PGES.

RESULTS: PGES was observed in 52 of 100 patients. Patients with PGES were older and had a slower heart rate before and after seizures compared to those without PGES. The tonic phase of GTCS was longer in patients with PGES. Univariate logistic regression analysis identified significant associations between PGES and six brain regions: the left and right lateral occipital cortices, left and right precuneus, and left and right thalamus. Multivariate analysis revealed that the right thalamus and both precuneus were independent predictors of PGES. Further analysis of thalamic subfields showed an increased volume of the ventral anterior nucleus of the right thalamus in patients with PGES.

SIGNIFICANCE: Structural alterations in the right thalamus and precuneus are significantly associated with the presence of PGES in epilepsy patients.

PLAIN LANGUAGE SUMMARY: Some people with epilepsy show a period of very low brain activity after a seizure, called PGES, which may be linked to a higher risk of sudden death. We analyzed brain scans from 100 people with epilepsy and found that two brain regions-the right thalamus and the precuneus-were different in those with PGES. These findings may help doctors understand which patients are more at risk after seizures and how to better protect them.

PMID:40974544 | DOI:10.1002/epi4.70150

J Autism Dev Disord. 2025 Sep 20. doi: 10.1007/s10803-025-07040-2. Online ahead of print.

ABSTRACT

PURPOSE: Extended reality (XR) technology has emerged as a promising tool for vocational training by providing controlled, customizable learning environments. This study aimed to evaluate the effectiveness of XR-based interventions in improving vocational skills for individuals with autism spectrum disorder (ASD) and intellectual disability (ID).

METHOD: A meta-analysis was conducted on 26 eligible studies (N = 642) employing pre-post experimental or controlled experimental designs, selected from an initial pool of 3,52 articles. Moderators included: (1) participants’ characteristics (disorder type, age, intelligence quotient, and co-occurring conditions), (2) technical characteristics (level of immersion and human-computer interaction), (3) intervention characteristics (assistance from human interventionist, intervention form, intervention intensity, including frequency, single-session duration, intervention period, total sessions, total duration), (4) target skills, and (5) measurement characteristics (evaluation methods and measurement tools).

RESULTS: We found: (1) XR-based interventions demonstrated a medium overall effect size (SMD = 0.73, 95% CI [0.59, 0.87]) for vocational skills training among individuals with ASD and ID. (2) Based on the results of statistical power analysis, subgroup analyses were conducted for target skill types. We found interventions targeting employment outcomes showed significantly lower effect sizes than those targeting job hard skills, job soft skills, and adaptive psychological traits. Additionally, interventions targeting maladaptive psychological traits were significantly less effective than those targeting job soft skills. (3) Based on results of statistical power analysis, meta-regression was conducted for single-session duration and revealed no significant moderating effect.

CONCLUSION: XR-based interventions show promise for improving vocational skills among individuals with ASD and ID, with effectiveness moderated by target skills. This meta-analysis highlights that improving employment for individuals with ASD and ID requires a multi-layered approach. We need to integrate technology optimization with inclusive policies and employment support.

PMID:40974514 | DOI:10.1007/s10803-025-07040-2

J Autism Dev Disord. 2025 Sep 20. doi: 10.1007/s10803-025-07043-z. Online ahead of print.

ABSTRACT

PURPOSE: Parents of children with autism are exposed to stressors associated with the daily care of raising a child with a developmental disability, which may negatively impact parental quality of life (QOL). The specific aim of this study was to examine the relationships between demographic factors, stress, and coping among parental caregivers of children with autism to determine whether predictors of QOL exist.

METHODS: This study was descriptive, and an electronic survey was distributed to parents of children, age 3-21 years old, diagnosed with autism. The survey measured parent-reported demographic factors, severity of the child’s diagnosis of autism, parental stress, coping, and QOL. Data were analyzed using multiple regression.

RESULTS: Study findings suggest that, in parental caregivers of children with autism in (N = 152) daily stressors, coping self-efficacy, and household income were predictors for physical QOL; daily stressors and coping self-efficacy were predictors of psychological QOL, and coping-self efficacy, household income, and severity of the diagnosis of the child were predictors for environmental QOL.

CONCLUSION: Coping self-efficacy and improved income can positively improve QOL, while severity of the diagnosis of autism and daily stressors can negatively impact QOL. Clinically, nurses with a better understanding of the parental stress and coping in parents of children with autism can better recommend tailored resources to improve QOL. Policies to support financial help for families may also improve QOL. Future research should focus on interventions to support caregiver health.

PMID:40974513 | DOI:10.1007/s10803-025-07043-z

Breast Cancer Res Treat. 2025 Sep 20. doi: 10.1007/s10549-025-07821-4. Online ahead of print.

ABSTRACT

PURPOSE: Knowledge of the uptake and breast and ovarian cancer-preventive and survival effects of bilateral risk-reducing mastectomy (BRRM) and salpingo-oophorectomy (RR-BSO) in female BRCA1/2 carriers is essential for optimized decision-making. This study aimed to examine time trends in the number of registered unaffected BRCA1/2 carriers, BRRM and RR-BSO uptake, and oncological effects of risk-reducing surgeries in a nationwide Danish cohort with matched controls.

METHODS: We included 3067 female BRCA1/2 carriers registered in the Hereditary Breast and Ovarian Cancer Registry and 30,652 age-matched controls between 2000 and 2022. Data were retrieved from national health registries. Uptake and oncological effects of risk-reducing surgeries were assessed using cumulative incidences and Cox proportional hazards models with 95% confidence intervals (CI).

RESULTS: Annual numbers of registered unaffected BRCA1/2 carriers, BRRM, and RR-BSO increased over time. BRRM and RR-BSO uptake 10 years after genetic test varied with the age at genetic test and parity. BRRM reduced the hazard rate of breast cancer by 94% [hazard ratio (HR) 0.06, CI 0.01-0.25]. The same pattern was not found for RR-BSO (HR = 1.31, CI 0.90-1.91). Compared to controls, BRCA1/2 carriers had an increased hazard rate for breast cancer before BRRM (HR 7.49, CI 5.81-9.42).

CONCLUSION: BRRM’s large protective effect against breast cancer in BRCA1/2 carriers was confirmed, in contrast to that of RR-BSO. There were tendencies toward a reduction in overall mortality rates after BRRM, and compared with controls, we saw tendencies toward higher mortality rates before BRRM.

PMID:40974500 | DOI:10.1007/s10549-025-07821-4

Gastric Cancer. 2025 Sep 20. doi: 10.1007/s10120-025-01662-2. Online ahead of print.

ABSTRACT

BACKGROUND: The renin-angiotensin system (RAS) has been increasingly recognized to be associated with carcinogenesis and cancer progression. There is extensive preclinical evidence suggesting the benefits of RAS-inhibiting drugs, such as angiotensin receptor blockers (ARBs) and angiotensin-converting enzyme inhibitors (ACEIs), in preventing the progression of gastric cancer (GC). However, clinical evidence supporting the positive effects of ARBs and ACEIs on GC prognosis is currently limited. The purpose of this study is to investigate their effects in a Finnish cohort.

METHODS: This is a retrospective national cohort study, where cancer patient registry data were linked to prescription purchase records for ARBs and ACEIs. The effect of ARB/ACEI in the post-diagnostic period on overall mortality was assessed using Cox regression analysis. Disease-specific mortality associations were evaluated with the Fine and Gray model.

RESULTS: We included 2246 histologically confirmed GC patients diagnosed between 2011 and 2016. Follow-up continued until the end of 2023. In the main analysis, a protective effect of ARB use was associated with a significant reduction in overall mortality (adjusted hazard ratio (HR) 0.81, 95% confidence interval (CI) 0.69-0.94, p = 0.007). Furthermore, the effect was greater for those with higher ARB dosage. A similar finding was not observed with ACEI use. For disease-specific survival, both ARB and ACEI use had a significant protective effect (adjusted HR 0.75, 95% CI 0.62-0.90 p = 0.002 and adjusted HR 0.76, 95% CI 0.63-0.93, P = 0.007, respectively).

CONCLUSIONS: Our study adds to the evidence that ARB use might have a beneficial impact on survival among GC patients.

PMID:40974486 | DOI:10.1007/s10120-025-01662-2

J Gastrointest Cancer. 2025 Sep 20;56(1):190. doi: 10.1007/s12029-025-01313-w.

ABSTRACT

PURPOSE: Small bowel (SB) capsule endoscopy (CE) is a well-established investigation for suspected SB pathology, but little research has evaluated the diagnostic miss rate of SB cancer. This Australian study sought to assess the risk of developing SB cancer within 36 months of a cancer-negative CE (PCSBC-3Y) using a novel root-cause analysis (RCA) method.

METHODS: Using a prospective CE database and data linkage with a population-based state cancer registry, the PCSBC-3Y rate was evaluated in consecutive patients undergoing CE between 2007 and 2019. SB cancers diagnosed or suspected from CE were defined as ‘detected cancers’, whilst those diagnosed within 36 months of a negative CE were defined as ‘missed cancers’. Descriptive statistics summarised characteristics for all diagnosed SB cancers. All PCSBC-3Y cases were evaluated by RCA.

RESULTS: A total of 20 patients were diagnosed with SB cancer within 36 months of CE, comprising of 18 detected cancers and two missed cancers. The overall PCSBC-3Y rate was 10% (95% CI 2.6-28.7%). The two missed cancers included one jejunal gastrointestinal stromal tumour and one duodenal adenocarcinoma. RCA revealed both missed cancers to be unavoidable, as the SB was normal on two retrospective reviews of the CE video recordings.

CONCLUSION: This study introduces the concept of measuring the PCSBC-3Y rate and a novel algorithm of RCA. In our quaternary referral CE cohort, the PCSBC-3Y rate was 10%. A subsequent RCA suggested that the two missed cancers were unavoidable.

PMID:40974481 | DOI:10.1007/s12029-025-01313-w

Biodegradation. 2025 Sep 20;36(5):89. doi: 10.1007/s10532-025-10185-7.

ABSTRACT

Sanitary landfilling remains a cost-effective waste management strategy, employing engineered liners and leachate collection systems to mitigate environmental pollution. However, long-term degradation of compacted clay baseliners (CCLs) poses risks to environmental safety and groundwater quality. This study investigated seasonal and habitat-specific microbial communities within CCLs and leachate from the Pulau Burung Sanitary Landfill, Pinang, Malaysia, utilizing 16S rRNA gene amplicon sequencing and functional prediction via PICRUSt2. Triplicate samples were collected from leachate and baseliner layers (0-30 cm depth) during both rainy and dry seasons, alongside assessments of physicochemical properties and permeability. Significant seasonal differences (p < 0.05) were observed in the physicochemical profiles of leachate and baseliner samples. Baseliner microbiomes exhibited greater compositional stability and smaller beta-diversity shifts compared to the more dynamic leachate communities. Alpha diversity increased in both matrices during the dry season, although changes in baseliner richness were not statistically significant (p > 0.05). Microbial community shifts were primarily driven by seasonal variations in environmental parameters. Core phyla shared across both habitats included Pseudomonadota (31.15-45.88%), Bacillota (8.58-31.15%), Actinobacteriota (6.22-19.58%), Acidobacteriota (0.16-15.85%), Chloroflexota (0.85-13.84%), and Bacteroidota (1.38-12.74%). Additional phyla such as Patescibacteria (0.77-2.06%), Cyanobacteria (0.12-6.16%), Desulfobacterota (0.77-5.38%), and Verrucomicrobiota (0.59-2.33%) showed matrix-specific enrichment. Functional prediction revealed distinct enzyme profiles and metabolic pathway enrichment. Anaerobic genera such as Geobacter, Desulfuromonas, Desulfuromusa, Pseudopelobacter, Desulfotomaculum, Clostridium, Desulfitobacterium, Telmatospirillum, and Dethiobacter were associated with redox cycling and mineral-transforming processes, suggesting potential contributions to increased clay porosity and reduced structural integrity. These findings demonstrate the ecological and functional complexity of landfill microbiomes and their potential role in compromising barrier performance. The study recommends routine monitoring of microbial functional genes and the development of biogeochemically resilient clay blends or in situ biobarriers to enhance long-term containment efficacy.

PMID:40974475 | DOI:10.1007/s10532-025-10185-7

Clin Transl Allergy. 2025 Sep;15(9):e70103. doi: 10.1002/clt2.70103.

ABSTRACT

BACKGROUND: Cefaclor is a commonly prescribed β-lactam antibiotic and a known major cause of immediate-type drug hypersensitivity in Korea. However, its genetic risk factors remain poorly understood. We aimed to identify genetic variants associated with cefaclor-induced anaphylaxis and evaluate their potential clinical implications.

METHODS: Whole-exome sequencing and HLA genotyping were performed in 33 patients with cefaclor-induced anaphylaxis and 41 drug-tolerant controls. Associations were assessed using logistic regression. Selected variants were validated in an independent Korean population. Gene set enrichment analysis (GSEA) was performed using association statistics from all variants to investigate relevant biological pathways.

RESULTS: A rare missense variant, rs765144578 in TPSAB1 was strongly associated with anaphylaxis and remained significant in the validation control group. It was found in 90.91% of patients with hypotension, suggesting a link to reaction severity. Rs192498095 in HLA-DRB5 showed a significant association in the discovery cohort. However, it was not detected in the replication set, likely due to its rarity and polymorphic nature. Co-occurrence of rs765144578 in TPSAB1 and rs192498095 in HLA-DRB5 markedly increased risk. GSEA revealed significant enrichment of the TNF-α signaling via NF-κB pathway, reflecting pathway-level immune activation.

CONCLUSION: Genetic variants in TPSAB1 and HLA-DRB5 may contribute to the risk of cefaclor-induced anaphylaxis, and TPSAB1 may also be associated with severity. These findings may support the development of future screening strategies or individualized risk prediction models in β-lactam allergy.

PMID:40974473 | DOI:10.1002/clt2.70103

J Assist Reprod Genet. 2025 Sep 20. doi: 10.1007/s10815-025-03675-3. Online ahead of print.

ABSTRACT

PURPOSE: To investigate whether re-biopsy and re-vitrification affect embryo developmental potential and clinical outcomes.

METHODS: Embryos that underwent preimplantation genetic testing for aneuploidy (PGT-A) and single embryo transfer between December 2017 and April 2024 were studied. All embryos were categorized into three groups: fresh biopsy and vitrification (BV group; n = 346); thawed, biopsied, and subsequently vitrified (VBV group; n = 12); fresh biopsied, vitrified, further thawed and biopsied again due to inconclusive results from the previous biopsy (BVBV group; n = 19). The live birth rate and miscarriage rate will be evaluated after embryo transfer in each group.

RESULTS: Live birth rate (LBR) was not statistically significant among the BV group (50.00%), VBV group [41.67%; adjusted relative risks (aRR) 0.96; 95% confidence interval (95% CI): 0.81-1.14], and BVBV group (42.11%; aRR 0.97, 95% CI: 0.83-1.13). The miscarriage rate was not statistically significant: BV group (11.27%); VBV group (25%; aRR 1.09, 95% CI: 0.95-1.25), and BVBV group (5.26%; aRR 0.97, 95% CI: 0.91-1.02).

CONCLUSIONS: The differences in LBR and miscarriage rates among the groups were not statistically significant. However, the limited sample sizes of the VBV and BVBV groups cannot rule out the possibility of moderate differences. Some embryos can be successfully salvaged, leading to live births. To minimize inconclusive results, the laboratory should refine the procedural details.

PMID:40974472 | DOI:10.1007/s10815-025-03675-3

Eur J Pediatr. 2025 Sep 20;184(10):627. doi: 10.1007/s00431-025-06416-x.

ABSTRACT

Tenosynovial giant cell tumour (TGCT) is a benign fibrohistiocytic proliferation that can lead to intraarticular inflammation causing secondary degenerative arthropathy. Surgery is the preferred treatment to avoid complications. Paediatric TGCT is rarely reported, mostly in case studies. This revision presents the largest paediatric series. This observational study involved 24 paediatric patients reported between 1998 and 2023 with confirmed histological diagnosis of TGCT. Descriptive statistics were used for analysis. Twenty-four patients (mean age 12.25 years, SD 3.78; 1:1 gender ratio) were included with the anatomopathological diagnosis of TGCT. The knee was the most affected joint (75%), with localized nodular presentation (66.7%). Initial symptoms were mechanical pain in all patients, joint effusion in 79.1%, and limp in 25%. Mean duration of symptom duration before diagnosis was 9 months (range 4-15). Magnetic Resonance Imaging (MRI) findings were consistent with TGCT in all cases, and alter confirmed by arthroscopic biopsy. Radiographs showed soft tissue changes in five patients. Treatment included arthroscopic synovectomy (70.8%) or open surgery (29.2%). Over a mean follow-up of 98 months (range 6-288), six recurrences occurred, all with diffuse presentation at the knee.

CONCLUSION: MRI is the preferred method for diagnosis and follow-up. Surgery is the main treatment, with low recurrence if nodular lesions are accurately removed. Outcomes and recurrence depend on diffuse presentation. We recommend open surgery for recurrences and local adjuvant treatment.

WHAT IS KNOWN: • Tenosynovial Giant Cell Tumour (TGCT) is an uncommon benign synovial lesion usually described as isolated case reports in children. • MRI is the preferred imaging technique due its superior tissue contrast and ability to differentiate diffuse and localized forms.

WHAT IS NEW: • We present the largest known pediatric series of TGCT including 24 histolgically confirmed cases and with outcome data. • The study provides insight into recurrence patterns and supports a tailored surgical approach based on lesion type.

PMID:40974423 | DOI:10.1007/s00431-025-06416-x