SEARCH · Search PubMed

Results for “C.637 A > G mutation”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

2,927 records · Page 37Linked to original sources

PubMed2026

Short-term effects of foot reflexology on pain, anxiety, and physiological responses in women with shoulder and neck pain: A randomized controlled trial.

OBJECTIVES: Shoulder and neck pain (SNP) is a common musculoskeletal complaint among women and is often accompanied by heightened anxiety. Foot reflexology (FR) is a complementary therapy proposed to promote relaxation and short-term psychophysiological regulation. This study examined the short-term effects of a single session of FR on pain, anxiety, and physiological responses in women with SNP. METHODS: A single-blind randomized controlled trial was conducted with 80 women aged 20-64 years in southern Taiwan. Participants were randomly allocated to one of three groups: FR, exercise, or passive rest control. Each group received a single 50-min session. Pain intensity and anxiety were assessed using the Numeric Rating Scale (NRS) and the State-Trait Anxiety Inventory (STAI), respectively. Heart rate and blood pressure were recorded as physiological indicators. Outcomes were measured at baseline, immediately post-intervention, and at 24-h follow-up. RESULTS: Baseline pain, anxiety, and physiological measures did not significantly differ among groups. Immediately after the intervention, both the FR and exercise groups demonstrated greater reductions in pain intensity compared with the passive rest control (P < 0.001 and P = 0.018, respectively). The FR group additionally showed greater reductions in anxiety and heart rate compared with the passive rest group (P = 0.005 and P = 0.001, respectively). Pain reduction in the FR group remained significant at the 24-h follow-up (P = 0.013), whereas anxiety reductions were not sustained. No significant between-group differences were observed for systolic blood pressure. CONCLUSION: A single session of FR was associated with immediate and short-term reductions in pain, anxiety, and heart rate among women with SNP. Foot reflexology may serve as a supportive, non-pharmacological approach for short-term modulation, although sustained effects require further investigation.

Humans↗

PubMed2026

Assessment of Genetic Diversity and Population Structure on Azadirachta indica A. Juss. in an Urban Metropolitan: Ahmedabad, India.

Azadirachta indica (A. indica) A. Juss., commonly known as Neem, is a valuable multipurpose tree with profound medicinal properties and socioeconomic importance, widely recognized since ancient Ayurvedic times. Despite its prominence, knowledge about its genetic diversity within the metropolitan area of Ahmedabad is limited. This study marks the first in-depth exploration of the genetic diversity and population structure of A. indica in Ahmedabad. The authenticity of the species was validated through DNA barcoding, and a Geographical Information System (GIS) was used to collect the samples. A total of 35 A. indica accessions were analyzed using five Inter Simple Sequence Repeat (ISSR) primers. Genetic diversity and population structure were evaluated using Inter Simple Sequence Repeat (ISSR) markers through polymorphism assessment, clustering, ordination, and Bayesian population structure analyses. ISSRs revealed a high level of polymorphism (75.66%), indicating substantial genetic variability among accessions. An analysis of genetic diversity indices revealed low to moderate diversity (Hs = 0.14, Ht = 0.217, I = 0.217). Analysis of Molecular Variance (AMOVA) analysis depicted 81% variation within the population and 19% among the population. Low to moderate genetic differentiation (Gst = 0.319) and moderate gene flow (Nm = 1.06) indicated that urban development has not hindered gene flow among populations. Mantel's test revealed a weak but significant correlation between genetic and geographic distances, suggesting limited isolation by distance. The estimated ΔK using STRUCTURE exhibited two subpopulations, representing two gene pools for A. indica accessions (K = 2). Collectively, these patterns indicate that urbanization has not severely disrupted genetic connectivity in A. indica, reflecting its resilience and adaptive potential in a metropolitan environment. These findings provide pivotal knowledge for further understanding the genetic diversity and population structure of A. indica in one of the fastest-growing cities in India, which can be utilized for new breeding programmes, sustainable development and future conservation strategies around the globe.

India↗

PubMed2026

EDucation and eXercise for gluteal tendinopathy in an Irish context (EDX-Ireland): findings from the LEAP-Ireland feasibility randomised controlled trial.

OBJECTIVE: To assess feasibility of a randomised controlled trial (RCT) investigating effectiveness of 6 sessions of an EDucation and eXercise intervention delivered over 8 weeks (EDX-Ireland) for gluteal tendinopathy, against usual care. EDX-Ireland was modified from a 14-session EDucation and eXercise intervention (EDX), delivered over 8 weeks, previously evaluated in an Australian RCT. DESIGN: Feasibility parallel RCT. METHODS: Participants were randomly assigned to physiotherapist-led EDX-Ireland or usual care. EDX-Ireland comprised 6 sessions of education, hip abductor strengthening and functional loading over 8 weeks, supported by a home exercise programme. Primary outcomes included success of different recruitment strategies and recruitment/retention rates. Secondary outcomes measured global rating of change and other clinical outcomes. Descriptive statistics (percentage, mean, standard deviations and 95% confidence intervals (CI)) are presented. RESULTS: Of 323 individuals who expressed interest in study participation, 119 completed physical examination screening, and 65 met criteria and consented to participate (recruitment rate 55%). Sixty-five people (89% women; mean age 53.1 ± 9.3 years), were randomised to EDX-Ireland (n = 32) or usual care (n = 33). Eighty-three percent (n = 54) were recruited via social media/community, 3% (n = 2) from general practitioners and 14% (n = 9) from orthopaedic/rheumatology. Retention was 92% (95% CI 82-97%, n = 60) at 8-weeks, and 89% (95% CI 79-96%, n = 58) at 3-months. Feasibility thresholds were met. Effect size estimates indicate that 134 participants would be required for a future RCT. CONCLUSION: Pre-defined recruitment and retention thresholds were met, indicating that a RCT evaluating 6 sessions of physiotherapist-delivered education and exercise against usual care for gluteal tendinopathy is feasible. TRIAL REGISTRATION: Clinicaltrials.gov (NCT05516563).

Humans↗

PubMed2026

Comparative Effectiveness of Pharmacogenomics for Treatment of Depression.

PURPOSE/BACKGROUND: Pharmacogenomics (PGx), or the use of genetic information to assess drug-gene interactions, is an important step toward precision medicine. It is unclear if clinician use of PGx yields better outcomes for their patients. This study compared the effectiveness of combinatorial PGx-guided plus guideline-informed treatment (PGx+GIT) with guideline-informed treatment (GIT) alone to improve well-being in individuals with major depressive disorder. METHODS/PROCEDURES: Eligible participants (N=201) were randomized to PGx+GIT or GIT alone. PGx was measured with the proprietary GeneSight combinatorial test. PGx+GIT participant clinicians received test results within 2 business days to inform decisions about medication changes. Participants completed the World Health Organization Well-Being Index (WHO-5), Patient Health Questionnaire (PHQ-9), and PROMIS Profile physical functioning and social roles and activity domains every 2 weeks for 2 months and then every 2 months for the remaining 10 months. Monthly medication changes operationalized as necessary clinical adjustments were tracked with the medication recommendation tracking form. FINDINGS/RESULTS: Both groups improved average well-being over the 12-month study period (model-based change in WHO-5 per log (week) [95% CI]: 4.1 [3.3, 5.0] PGx+GIT and 4.8 [4.0, 5.5] GIT). PGx+GIT did not result in superior improvement in well-being (model-based difference [95% CI]: -0.6 [-1.8, 0.5], P =0.270), or any secondary outcomes. The effect of randomized treatment on well-being was not moderated by depression severity, number of previous failed medications for major depressive disorder, or presence of a comorbid condition. IMPLICATIONS/CONCLUSIONS: These data suggest PGx+GIT was not superior to GIT alone, possibly due to a ceiling effect of GIT, or PGx did not yield better results.

Humans↗

PubMed2026

Effect of walking training on blood glucose control and metabolic health in patients with type 2 diabetes: A systematic review and meta-analysis.

OBJECTIVE: To systematically evaluate the improvement effect of walking training on blood glucose control and metabolic health indicators in type 2 diabetes patients, and to explore the effect of different intervention program characteristics on the efficacy through subgroup analysis. METHOD: The system searched PubMed, Web of Science, EMBASE, Cochrane Library, and EBSCO databases, with a search period from the establishment of the database to March 15, 2026. Include a randomized controlled trial with the main intervention measures of walking behavior, with an intervention period of ≥8 weeks. Two researchers independently conducted literature screening, data extraction, and bias risk assessment. Meta-analysis was conducted using RevMan 5.4 software, with mean difference (MD) and its 95% confidence interval (CI) as effect measures for continuous variables. Select fixed effects model or random effects model for combined analysis based on heterogeneity size, and conduct subgroup analysis according to intervention program characteristics. RESULTS: Totally 5 randomized controlled trials were included, including 483 patients with type 2 diabetes (241 cases in the intervention group and 242 cases in the control group). Participants had a mean age of 54.2 ± 6.5 years, BMI of 29.1 ± 3.2 kg/m2, and 48.5% were male. The meta-analysis results showed that walking training significantly reduced glycated hemoglobin levels, with a combined effect of -0.48% (95% CI: -0.60 to -0.36, P < 0.00001), There is moderate heterogeneity among the studies (I2 = 67%). Subgroup analysis showed that the "walking + other interventions" subgroup (combined effect size -0.58%, 95% CI: -0.96 to -0.20) and the "clear step target" subgroup (combined effect size -0.52%, 95% CI: -0.65 to -0.39) had larger effect sizes and lower heterogeneity within the subgroups. The bias risk assessment shows that the overall quality of the included research methodology is good. CONCLUSION: Walking training can significantly improve the blood glucose control in patients with type 2 diabetes. Combined with diet or behavioral intervention, setting clear goals for the number of steps may achieve better results. Walking training can be used as an effective auxiliary treatment for the management of type 2 diabetes in clinical promotion. Due to limitations in the number and quality of studies included, the above conclusions still require more high-quality research to validate.

Humans↗

PubMed2026

Premature closure underlies bias in medical diagnosis in students: A randomised controlled experiment.

OBJECTIVE: The purpose of the study reported in this article was to shed light on the cognitive mechanism mediating between biasing information and diagnostic error. The literature suggests at least two different hypotheses: premature closure leading biased participants to spend less time on diagnosis or increased competition between diagnostic hypotheses. The latter hypothesis predicts that biased participants would spend more time reaching a diagnosis. METHOD: Using the salient distracting findings (SDF) experimental paradigm, we biased 58 fourth-year medical students while diagnosing 12 clinical vignettes in a within-group incomplete block design under three conditions: cases presented without SDF, with SDF at the beginning and with SDF at the end. For each of these conditions, diagnostic accuracy, the number of SDF-related mistakes and time per word needed to process the case were recorded. The data were analysed using linear mixed modelling. Estimated marginal mean scores were reported. RESULTS: Participants confronted with salient distracting features (SDFs) at the beginning of a clinical case demonstrated significantly lower diagnostic accuracy (mean 0.11) compared with the No-SDF condition (0.27), representing a 61% reduction (F2,693 = 11.995, p < 0.001), and made more SDF-related mistakes (F2, 693 = 16.395, p < 0.001). When SDFs were presented at the end of the case, diagnostic accuracy was also reduced (mean 0.17; 36% reduction), but processing time did not differ from the No-SDF condition. Only early presentation of SDFs was associated with reduced processing time per word (F2,636 = 4.799, p < 0.01), consistent with premature closure. CONCLUSION: These findings demonstrate that biasing information increases diagnostic error in medical students and that only early bias is associated with reduced information processing. The data do not support the competition hypothesis for early bias, as processing time did not increase under biasing conditions. Premature closure can therefore be directly observed rather than inferred, inviting further research.

Humans↗

PubMed2026

Evaluation of Sexual Function With Adjunctive Lumateperone in Patients With Major Depressive Disorder.

Objective: Lumateperone is an atypical antipsychotic to treat schizophrenia, bipolar I or II depression, and major depressive disorder (MDD). Randomized phase 3 Study 502 (NCT05061706) investigated the impact of adjunctive lumateperone 42 mg/day on sexual functioning, per Changes in Sexual Functioning Questionnaire 14-item version (CSFQ-14). Methods: Adults meeting DSM-5 criteria for MDD with inadequate response to 1-2 antidepressant therapies (ADTs) in the current depressive episode, Montgomery-Åsberg Depression Rating Scale Total score ≥24, Clinical Global Impression Scale-Severity score ≥4, and Quick Inventory of Depressive Symptomatology-Self Report-16-item score ≥14 were randomized to 6-week lumateperone 42 mg+ADT or placebo+ADT. Sexual function was assessed by CSFQ-14 Total and domain scores in the intent-to-treat (ITT) population and subgroups. Results: Of 480 patients in the ITT population, 82.5% had sexual dysfunction at baseline (women=284; men=112). Lumateperone+ADT significantly improved CSFQ-14 Total score at Day 43 vs placebo+ADT (least squares mean difference [LSMD]=2.7; effect size [ES]=0.38; P<.0001). Significantly greater improvements were observed in patients with baseline sexual dysfunction (LSMD=3.1; ES=0.42; P<.0001), with no change in those without. Improvements were observed in women (LSMD=3.5; ES=0.47; P<.0001) and in men (LSMD=1.9; ES=0.33; P=.08). Significant improvements in CSFQ-14 Total score at Day 43 were observed across age groups and CSFQ domain scores, with both sexes having significant improvements in pleasure and arousal/ excitement. Improvements in depressive symptoms may be linked to improvement in sexual functioning. Conclusions: Adjunctive lumateperone 42 mg did not worsen sexual functioning and was not associated with treatment-related sexual dysfunction in patients with MDD with inadequate response to ADT. Trial Registration: ClinicalTrials.gov identifier: NCT05061706.

Humans↗

PubMed2026

Vaginal Hysterectomy Versus Vaginal Assisted Natural Orifice Transluminal Endoscopic Surgery Hysterectomy; Results of a Randomised Controlled Trial.

OBJECTIVE: To compare Vaginal Hysterectomy (VH) with Vaginal Assisted Natural Orifice Transluminal Endoscopic Surgery (NOTES) hysterectomy (VANH) as a day-care procedure. DESIGN: Single-blind, multicentre randomised controlled trial. SETTING: Two Dutch non-academic teaching hospitals. POPULATION: Women aged ≥ 18 years undergoing hysterectomy for benign indications. METHODS: Women were randomised 1:2 (VH or VANH). Primary outcome was SDD. Secondary outcomes included operative time, rate of elective salpingectomies, intraoperative blood loss, complications (Clavien-Dindo), pain scores (NRS) and analgesic use, post-operative recovery (RI-10), and quality of life (EQ-5D-5L). Analyses were performed on an intention-to-treat basis. RESULTS: A total of 113 patients were included in the analyses (n = 42 VH, and n = 71 VANH). SDD occurred significantly more frequently in the VANH group (87.3%) than VH group (71.4%; OR 2.76, 95% CI 1.04-7.25; p = 0.04). VANH was associated with a significantly shorter operative time (median 55 min versus 65 min; p = 0.005), less blood loss (median 50 mL vs. 150 mL; p < 0.001) and more often elective opportunistic salpingectomy compared to VH (100% vs. 77.4%; p = 0.008). NRS were significantly lower in the VANH group the first hour post-operative (3 vs. 1, p < 0.001). Post-operative complications (VH 9.5% vs. VANH 15.5%; p = 0.34), readmission (VH 4.8% vs. VANH 8.5%; p = 0.47), analgesic use, recovery, and quality of life were not statistically significant. CONCLUSIONS: VANH is a safe and effective alternative to VH, offering a higher likelihood of SDD, shorter operative time, reduced blood loss, and more often an elective salpingectomy, without increased complications or differences in pain, recovery, or quality of life.

Humans↗

PubMed2026

Do adherence-focused interventions in low back pain have an impact on rehabilitation outcomes? A systematic review with meta-analysis.

BACKGROUND: Low back pain (LBP) is the leading cause of disability worldwide. Exercise-based interventions are effective, but adherence remains suboptimal. This systematic review and meta-analysis evaluated the effectiveness of strategies designed to enhance adherence to exercise-based interventions in individuals with LBP in terms of adherence as well as pain and functionality. METHODS: Randomized controlled trials including adults with non-specific LBP were eligible if they compared exercise-based interventions incorporating adherence-enhancing strategies versus exercise alone or usual care. Primary outcome was adherence; secondary outcomes were pain and functionality. Searches were conducted in PubMed, Embase, Web of Science, Cochrane Library, CINAHL, Scopus, and PEDro up to May 2026. Two reviewers independently screened studies, extracted data, and assessed risk of bias using the Cochrane RoB 2 tool. Random-effects meta-analyses were performed using standardized mean differences. Certainty of evidence was evaluated using the GRADE approach. RESULTS: Fourteen randomized controlled trials including 1233 participants were included. Risk of bias was low in six studies, with the remainder showing some concerns or high risk. For adherence outcomes, evidence showed no clear effect of adherence-enhancing strategies on either device-measured physical activity (SMD = 0.21, 95% CI -0.01 to 0.43; 3 trials, 320 participants; moderate-certainty evidence) or questionnaire-based adherence (SMD = 0.33, 95% CI -0.23 to 0.89; 4 trials, 377 participants; very low-certainty evidence). For pain and functionality, moderate certainty of evidence indicated small improvements favoring intervention groups in the medium term. CONCLUSIONS: Strategies to enhance adherence to exercise in LBP show uncertain effects on adherence but may provide small improvements in clinical outcomes in the medium term. Higher-quality trials are needed to strengthen the evidence base.

Adult↗

PubMed2026

Recombinant vs Standard Influenza Vaccine in Adults With Severe Obesity: A Randomized Clinical Trial.

BACKGROUND: Individuals with severe obesity are at increased risk of severe influenza and may have impaired immune responses to vaccination. Recombinant influenza vaccine (RIV) may provide enhanced protection compared with egg-based standard-dose influenza vaccine (SD), but data in this high-risk population are limited. METHODS: The AP-HP FLUO trial (NCT05409612) was an open-label, randomized clinical trial conducted in 15 centers in France (November 2022-March 2023) with 6 months of follow-up. Adults with BMI ≥35 kg/m2 were randomized 1:1 to receive RIV or SD, using minimization by center, age (<50 vs ≥50 years), and BMI (<40 vs ≥40 kg/m2). The primary outcome was the ratio (RIV/SD) of geometric mean hemagglutinin-inhibition (HAI) titers (GMTs) for 4 influenza strains 28 days after vaccination. Safety and reactogenicity were also assessed. RESULTS: A total of 206 participants were included (104 RIV, 102 SD). Median age was 50 years, 60.2% were women, and median BMI was 41.0 kg/m2. At Day 28, GMT ratios favored RIV for A/H1N1 (1.6; 95% CI, 1.1-2.3), A/H3N2 (2.0; 95% CI, 1.3-3.2), and B/Yamagata (1.3; 95% CI, 1.0-1.8), but not for B/Victoria (0.9; 95% CI, 0.6-1.3). The effect did not vary significantly across the different age and BMI groups. By Day 180, titers did not differ significantly. Reactogenicity and safety profiles were similar between groups. CONCLUSIONS: In adults with severe obesity, RIV elicited stronger short-term humoral immune responses than an egg-based standard-dose vaccine, suggesting potential additional benefit for influenza prevention in this vulnerable population.

Humans↗

PubMed2026

Ethiopia missed opportunities for vaccination study: Cluster-randomized evaluation of 5-dose measles vaccine vials and a flexible open-vial policy, 2021-2022.

INTRODUCTION: In 2024, an estimated 95,000 people died from measles globally, largely from suboptimal coverage with the measles-containing vaccine (MCV). Health workers may defer vaccinating eligible children to avoid wasting doses from 10-dose MCV vials, which must be discarded six hours after opening. These missed opportunities for vaccination (MOV) reduce coverage and timeliness. Ethiopia, which provides MCV at 9 and 15 months, considered switching to 5-dose vials. METHODS: We conducted a 15-month, randomized controlled trial with a nested cross-sectional design in Ethiopia. Sixty woredas were randomized to: (1) policy-only, instructing health workers to open 10-dose vials for any number of eligible children, with additional stock for increased wastage; (2) 5-dose switch, combining this policy with replacement of 10-dose by 5-dose vials; or (3) control (routine 10-dose practice). Household and health-facility surveys at baseline and endline assessed effects on first-dose (MCV1) and second-dose (MCV2) coverage, MCV1 timeliness, and wastage. Generalized estimating equation models estimated net intervention effects versus control. We also estimated the government cost of a nationwide 5-dose switch. RESULTS: MCV1 coverage was similar between policy-only and control (adjusted risk difference [ARD] = -1%, 95%CI: -17%, 15%), with no significant differences in MCV1 timeliness or MCV2 coverage. In the 5-dose switch group, MCV1 coverage changed little (ARD = 1%, 95%CI: -17%, 18%), but timely MCV1 at 9 months (ARD = 18%, 95%CI: 7%, 28%) and MCV2 coverage (ARD = 17%, 95%CI: 1%, 34%) rose significantly, and wastage fell (ARD = -7%, 95%CI: -14%, -1%). By endline, 29% of 5-dose health workers opened vials ≥10 times monthly (none in control); caregivers in both intervention groups reported 11% fewer measles-related MOVs. A nationwide 5-dose switch was estimated to save 17% in procurement cost per fully vaccinated (two-dose) child. CONCLUSIONS: The combined 5-dose intervention improved MCV1 timeliness and MCV2 coverage and reduced wastage, addressing a key operational barrier and potentially supporting measles elimination in Ethiopia.

Humans↗

PubMed2026

Characterizing Submental Neuromuscular Activity of Swallowing Rehabilitation: An Electromyographic Evaluation of Rehabilitative Maneuvers in Healthy Adults.

PURPOSE: The effortful swallow (ES), the Mendelsohn maneuver (MM), and isometric tongue presses (TPs) are widely used swallowing maneuvers/exercises to improve elements of swallowing, such as muscle strength and biomechanics. However, the underlying neuromuscular mechanisms of these exercises remain unclear, potentially limiting our ability to specify treatment targets and improve treatment efficacy. This study aimed to compare submental neuromuscular activation patterns during the ES, MM, TPs, and typical swallows in healthy young and older adults. METHOD: As part of a larger randomized crossover validation study, 60 healthy adults (30 young and 30 older) completed typical swallows and three maneuvers using a wearable submental surface electromyographic (sEMG) system (i-Phagia). Outcome variables included (a) normalized mean sEMG amplitude and (b) time to peak sEMG amplitude. Linear mixed models were used to examine effects of task, age, and sex on both outcomes. RESULTS: Normalized mean amplitude was significantly different across tasks. Post hoc pairwise comparisons confirmed that all three maneuvers produced higher normalized mean sEMG amplitude than typical swallows, with the ES eliciting the highest amplitude across age groups. Time to peak amplitude differed significantly across tasks, with typical swallows requiring the shortest time to reach peak amplitude, followed by the ES, MM, and TP. CONCLUSIONS: The ES required the highest neuromuscular effort with the shortest time to reach peak amplitude, suggesting its potential for targeting submental muscle power. Typical swallows required the least neuromuscular effort with the shortest time to reach peak amplitude, suggesting their potential for training submental muscle speed. The MM and TP may also improve submental muscle strength; however, given their temporal requirements (longer durations), they may be more beneficial for targeting coordination and endurance, though more research in this area is warranted. These findings underscore the importance of task-specific neuromuscular profiling to inform mechanism-based swallowing rehabilitation. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.32948549.

Humans↗

PubMed2026

Alterations in Spatiotemporal Parameters in Patients With Lower-Limb Amputation: A Systematic Review With Meta-Analysis.

OBJECTIVES: To evaluate differences in spatiotemporal gait parameters in individuals with transfemoral (TFA) and transtibial amputation (TTA) compared with physically able individuals. METHODS: This systematic review with meta-analysis was conducted according to the MOOSE guidelines. Cross-sectional studies or clinical trials that assessed spatiotemporal gait parameters in adults with unilateral TFA or TTA were included. Searches were performed in Medline (via PubMed), CINAHL, Scopus, LILACS, Cochrane Library, and Embase using descriptors related to amputation and gait. Risk of bias was assessed using the Joanna Briggs Institute scale for cross-sectional studies, whereas the meta-analysis was performed using quantitative data for the following outcomes: walking speed, step length, stride length, step width, cadence, stance time, swing time, step time, or stride time. RESULTS: A total of 12 cross-sectional studies involving 150 individuals with amputation (86 TTA and 64 TFA) and 138 healthy controls were included. Meta-analysis demonstrated a significant reduction in walking speed (mean difference of -0.24; 95% CI -0.32 to -0.17; p < 0.0001; I2 = 61%) and cadence (mean difference of -6.01; 95% CI -9.69 to -2.34; p = 0.001; I2: 54%) in patients with amputation compared with healthy individuals. A reduction in stride length (mean difference of -11.71; 95% CI -23.37 to -0.04; p = 0.05; I2: 85%) and an increase in step width (mean difference of 5.22; 95% CI 2.99 to 7.45; p < 0.0001; I2: 71%) were also observed. Step time showed no significant difference between groups (mean difference of 0.06; 95% CI -0.01 to 0.14; p = 0.11; I2: 93%). Patients with TFA amputation exhibited greater impairment in gait variables, particularly cadence, when compared with a healthy individual. CONCLUSIONS: Patients with lower limb amputation present with functionally compromised gait, characterized by reduced walking speed. Increased step width and reduced stride length are findings that may suggest compensatory strategies during gait and improved balance, which are important requirements for amputee patients. These findings reinforce the need for rehabilitation interventions focused on improving propulsion and postural safety. TRIAL REGISTRATION: PROSPERO: CRD42024620098.

Humans↗

PubMed2026

Harnessing Polygenic Risk Scores to Refine Venous Thromboembolism Risk Stratification.

BACKGROUND: Venous thromboembolism (VTE) is a major cause of morbidity in patients of all ages. Despite growing interest in polygenic risk scores (PRS) for VTE, their utility remains understudied. Our objective was to evaluate the independent impact of a PRS on VTE susceptibility in adults and children. METHODS: We completed a retrospective, case-control study of two separate cohorts with evaluation of three VTE PRS models, with the primary analysis focused on a 293 single nucleotide polymorphism (SNP) PRS. The adult cohort included 597 VTE cases and 31 998 controls, and the pediatric cohort included 109 cases and 448 controls, both obtained from a de-identified databank with linked genetic data. Separate adult and pediatric multivariable logistic regressions were performed to measure the association of risk factors with VTE. RESULTS: Higher PRS in adults was significantly associated with increased odds of VTE, with each 1-standard deviation increase in PRS conferring an adjusted odds ratio of 1.25 (OR = 1.25, 95% CI 1.15-1.36, p < 0.001). Leading risk factors for adults were cancer (OR = 2.43, 95% CI: 2.04-2.89, p < 0.001) and recent surgery (OR = 2.16, 95% CI: 1.83-2.54, p < 0.001). The standardized PRS also exhibited increased risk for VTE in children (OR = 1.38, 95% CI 1.10-1.74, p = 0.003). Central venous catheterization (OR = 5.65, 95% CI 3.40-9.50, p < 0.001) was the foremost risk factor for pediatric VTE. CONCLUSION: VTE in adults and children is multifactorial, with clinical and genome-wide risk factors contributing. PRS may serve as a valuable adjunct to clinical risk factors for VTE risk stratification.

Humans↗

PubMed2026

Design of an innovative framework based hybrid catalyst for simultaneous and sensitive monitoring of food additive and preservative of vanillin and nitrite in direct samples.

As vanillin (VAN) and nitrite (NIT) contamination in the food chain poses substantial threats to environmental and public health, rapid and portable detection is essential. The present study presents the first electrochemical sensor report based on a hybrid composite of Ni-TPA-MOF and MoS2/Co3O4. The oxidation of VAN and NIT exhibited sharp peaks and less over-potential on Ni-TPA-MOF/MoS2/Co3O4/GCE than on control electrode surfaces. On modified composite electrode surfaces, pH and scan rate were investigated for VAN and NIT. Further, the oxidation current exhibited high linearity at VAN and NIT concentrations of 5 nM-1000 μM and 3 nM-1250 μM, with detection limits of 0.102 nM and 0.073 nM (S/N = 3). We also applied anti-interfering ability (five/ten-fold excess of co-interfering compounds) and practical tests to various food-based real samples, with high recoveries of 98.85-102.41%. This study highlights the catalytic properties of Ni-TPA-MOF/MoS2/Co3O4 and demonstrates the sensor as a promising tool for food safety.

Benzaldehydes↗

PubMed2026

Daily low-dose carboplatin or weekly carboplatin plus nab-paclitaxel for concurrent chemoradiotherapy in older patients with locally advanced non-small cell lung cancer (JCOG1914): A randomized phase 3 trial.

BACKGROUND: Daily low-dose carboplatin with concurrent thoracic radiotherapy is the standard treatment for older patients with unresectable locally advanced non-small cell lung cancer (LA-NSCLC) in Japan. METHODS: This open-label phase 3 trial was conducted at 38 institutions in Japan. Patients aged ≥ 75 years with LA-NSCLC were randomly assigned (1:1) to receive daily carboplatin (30 mg/m2) or weekly carboplatin (area under the curve, 2 mg·min/mL) plus nab-paclitaxel (30 mg/m2) with thoracic radiotherapy. Durvalumab maintenance therapy was recommended after treatment completion. The primary endpoint was overall survival, which was used to assess the non-inferiority of weekly carboplatin plus nab-paclitaxel compared to daily low-dose carboplatin. RESULTS: From December 2020 to March 2024, 124 patients were enrolled (carboplatin arm, 61 and carboplatin plus nab-paclitaxel arm, 63). In the planned interim analysis, the Bayesian predictive probability indicating the non-inferiority of carboplatin plus nab-paclitaxel compared with carboplatin in the final analysis was 8.0%, leading to early study termination for futility. The median overall survival was not estimable in the carboplatin arm; the estimated value in the carboplatin plus nab-paclitaxel arm was 26.1 months (hazard ratio, 1.56; 95% confidence interval, 0.79-3.11; p = 0.200). Two treatment-related and seven non-cancer-related deaths occurred in the carboplatin plus nab-paclitaxel arm. Patients in the carboplatin arm had better quality of life than those in the carboplatin plus nab-paclitaxel arm at 6 weeks (odds ratio, 0.39; 95% confidence interval, 0.18-0.81; p = 0.012). CONCLUSIONS: Daily low-dose carboplatin with concurrent thoracic radiotherapy remains the standard treatment for older patients with unresectable LA-NSCLC in Japan.

Humans↗

PubMed2026

Enhancing Self Care Among Oral Cancer Survivors Using a Digital Approach: The Empowered Survivor Trial.

BACKGROUND: Oral and oropharyngeal cancer survivors experience debilitating physical and psychosocial challenges. Little knowledge exists on the efficacy of interventions to enhance self-efficacy in managing these challenges, increase survivorship preparedness, and improve health-related quality of life (HRQoL). METHODS: Individuals (n = 643) diagnosed with oral or oropharyngeal cancer diagnosed within past 3 years were randomized to a digital intervention, Empowered Survivor (ES) or a Generic Online Intervention (GO). Primary (self-efficacy, preparedness, HRQoL) and secondary outcomes (self-care activities) were measured at Baseline, 2-months, and 6-months. RESULTS: Participants assigned to ES reported greater self-efficacy and increased self-care activities of oral self-exams, swallowing, and mobility exercises than those assigned to GO (self-efficacy: 2 months, p = 0.003, 6-months, p < 0.001; self-care activities). CONCLUSIONS: The ES enhanced self-efficacy and increased self-care activities. Further examinations of survivorship preparedness and HRQoL in oral and oropharyngeal cancer are warranted. TRIAL REGISTRATION: Registered on clinicaltrials. gov as NCT04713449.

Humans↗

PubMed2026

Association Between Statin Use and Dry Eye Disease: A Systematic Review and Meta-Analysis.

TOPIC: This systematic review and meta-analysis evaluated the literature-pooled association between statins and dry eye disease (DED). CLINICAL RELEVANCE: Statins, a common treatment modality for dyslipidemia, have been proposed as a potential contributor to DED via their activity in meibomian gland epithelial cells. However, single studies show mixed evidence, and there remains an unmet clinical need to clarify whether statin exposure is associated with DED. METHODS: This review was reported in accordance with the Preferred Reporting Items for Systematic Reviews of Interventions (PRISMA) 2020 statement and was registered a priori on PROSPERO (CRD420251238004). Ovid MEDLINE, Embase, CINAHL, Web of Science, CENTRAL, and the reference lists of relevant reviews were searched from inception to November 2025 for studies reporting the association between statin use and DED. Random-effects meta-analysis using inverse-variance weighting was conducted to pool effect estimates as odds ratios with 95% confidence intervals (CIs). Study risk of bias was appraised using the ROBINS-E tool, and the certainty of the evidence was reported using the GRADE framework. RESULTS: Six observational studies were included in the meta-analysis (n = 560,821; 356,012/559,141 [63.7%] statin users). The pooled analysis revealed a significant positive association between statins and DED (odds ratio 1.09, 95% CI 1.05-1.13, P < .001), with an absolute risk difference of 10.2 more DED cases per 1000 (95% CI 5.5 more to 15.2 more). This result was derived from very low-certainty evidence given limitations in study design and serious inconsistency. Subgroup and sensitivity analyses for risk of bias (P = .123), method of outcome ascertainment (P = .737), type of effect estimate (P = .496), and leave-one-out analyses showed no evidence of effect modification and demonstrated consistent direction of association across studies. CONCLUSION: Statin use was associated with a small but statistically significant increase in DED, limited by very low-certainty evidence. Physicians should monitor for and educate patients on ocular surface symptoms in patients using statins with pre-existing DED risk factors. Future studies should use standardized DED diagnostic criteria to investigate the impact of statin dose, type, and duration to better characterize this potential association.

Humans↗

Results for “C.637 A&#xa0;>&#xa0;G mutation”

Results for “C.637 A > G mutation”