Search Results (5,955)

Background and Objectives: Therapeutic goals for ulcerative colitis (UC) have expanded beyond symptom control to include mucosal and histological healing. However, the long-term prognostic value of achieving both targets remains uncertain, particularly in Asian populations. This study aimed to evaluate long-term outcomes and relapse predictors in patients with UC who achieved both endoscopic and histologic remission. Materials and Methods: This prospective observational study consecutively enrolled adults with clinically inactive UC who attained endoscopic remission (Mayo endoscopic subscore = 0) and histologic remission (Nancy index ≤1) between June 2014 and May 2018. Demographic, clinical, and laboratory data—including fecal calprotectin—were collected. Clinical relapse was defined as a Mayo score increase >3 or initiation of systemic corticosteroids or biologics. Patients were followed longitudinally for a median of 55 months (minimum 12 months), and relapse risk was evaluated using Kaplan–Meier and univariate Cox regression analyses. Results: A total of 41 patients were included (mean age 54 ± 14 years; 56% male). The median follow-up was 54 months (range 17–78). Ten patients (24.4%) relapsed during follow-up, with cumulative relapse rates of 9.8%, 10.3%, 15.8%, and 24.1% at 12, 24, 36, and 48 months, respectively. Kaplan–Meier analyses demonstrated significantly higher relapse in patients with non-E1 disease (E2 + E3, p = 0.021), immunomodulator use (p = 0.008), and biologics use (p = 0.007). In univariate Cox regression, immunomodulator (HR 4.7, 95% CI 1.3–16.4, p = 0.02) and biologics use (HR 4.9, 95% CI 1.4–17.5, p = 0.01) were significant predictors of relapse, whereas disease extent showed only a non-significant trend with wide CIs. Baseline fecal calprotectin was higher in the relapse group (182 ± 370 μg/g vs. 108 ± 164 μg/g) but was not statistically significant. Conclusions: Approximately one-quarter of UC patients who achieved dual remission relapsed within 4 years. These findings highlight the limitations of using dual remission as the sole therapeutic endpoint and underscore the need for additional prognostic factors. High-risk subgroups—such as those with extensive disease or prior exposure to advanced therapies—may require closer monitoring and individualized strategies. Future multicenter studies integrating clinical, endoscopic, histologic, and biomarker data are needed to refine relapse prediction. Full article

Background: The recently proposed Staging of Airflow Obstruction by Ratio (STAR) system classifies severity based on the FEV₁/FVC ratio, potentially offering improved prognostic performance. This study aimed to evaluate the prognostic performance of STAR in patients hospitalized for COPD exacerbation. Methods: A retrospective observational single-center study was conducted including COPD patients who were discharged after hospitalization for a severe exacerbation at a university hospital. The clinical and spirometric data in a stable condition, GOLD classification, STAR system, and mortality outcomes were recorded. Results: A total of 197 patients (23% female) were included. The follow-up was performed for a minimum of 38 months or until death if it occurred earlier. During the study period, 91 patients died (46%). Patients were distributed according to the STAR classification as follows: 21% in STAR 1, 32% in STAR 2, 28% in STAR 3, and 19% in STAR 4. The agreement between STAR and GOLD was fair (Cohen’s kappa = 0.28), with a moderate correlation (Tau-b = 0.49, p < 0.001). STAR grades 2 to 4 demonstrated progressively increasing mortality, while STAR grade 1 showed a mortality similar to grade 2. STAR showed a trend toward a superior discrimination for mortality than GOLD (AUC 0.63 [95%CI 0.55–0.71] vs. 0.55 [0.47–0.63]; p = 0.055), although BODEx remained the most accurate predictor (AUC = 0.70 [0.63–0.77]). Conclusions: The STAR system effectively stratified the mortality risk among hospitalized COPD patients across grades 2 to 4. However, STAR grade 1 failed to differentiate patients with a lower risk. Although STAR may underestimate severity in individual patients with relatively preserved ratios, its integration into clinical evaluation could enhance prognostic assessments. Full article

Objectives: The objective of this study was to separately examine the effects of exercise addiction and the Collagen Type I Alpha 1 Chain (COL1A1) gene rs1800012 G/T polymorphism on injury susceptibility in elite female volleyball players, and to test the hypothesis that the T allele, previously identified as a risk allele, is underrepresented in volleyball players compared to the general population. Methods: The study included 50 professional Turkish female volleyball players with documented injury data, along with 557 Turkish controls, 53 professional Russian volleyball players, and 810 Russian controls. The Turkish participants were enrolled in a case–control study, an injury study, and an exercise addiction study, whereas the Russian participants were enrolled solely in a case–control study. Results: Injured players had significantly higher scores in the Delay of Individual Social Needs and Conflict subscale of the Exercise Addiction Scale compared to their uninjured counterparts (p = 0.036). The random-effects meta-analysis revealed a significantly lower frequency of the COL1A1 T allele in volleyball players compared to controls (pooled OR = 0.63, 95% CI: 0.41–0.96, p = 0.031). Athletes who had not undergone surgery had a significantly higher frequency of the G allele compared to controls (89.2% vs. 78.7%, p = 0.037; OR = 2.23, 95% CI: 1.1–4.7). Among injured athletes, those carrying the GT genotype were significantly more likely to experience prolonged recovery (≥3 months) (57.1%) compared to those with the GG genotype (28.0%, p = 0.017). Conclusions: Exercise addiction and the COL1A1 rs1800012 T allele were associated with a higher incidence of injury in female volleyball players. The T allele was also associated with a longer recovery time following injury. Full article

Background: Sleep disorders, particularly insomnia, represent a significant health concern in medical education. Neuroticism, characterized by emotional instability and stress reactivity, shows cross-sectional associations with sleep disturbances in healthcare trainees. Limited research examines these relationships among South Asian medical students. This cross-sectional study investigated insomnia symptom prevalence, personality correlates, and environmental factors among Pakistani medical students. Methods: We conducted a cross-sectional study among 364 undergraduate medical and dental students in Peshawar, Pakistan (June–November 2024). Data collection occurred during examination months. Data collection employed validated instruments: the Insomnia Severity Index (ISI) and the NEO Five-Factor Inventory neuroticism subscale (NEO-FFI-12). Statistical analyses included Pearson correlations, chi-square tests, and multivariate regression with interaction terms. Results: Among 364 participants (mean age 21.3 ± 2.3 years, 52.2% female), 47.0% reported severe insomnia symptoms (ISI 22–28), with 89.0% experiencing at least subthreshold symptoms (ISI ≥ 8) during the 2-week assessment period. These prevalence rates reflect symptom severity over a 2-week period during examination months and do not represent clinical diagnoses of chronic insomnia disorder, which requires ≥3 months of symptoms with clinical confirmation. High neuroticism (NEO-FFI ≥ 37) characterized 59.8% of students. Multivariate regression revealed a robust cross-sectional association between neuroticism and insomnia symptom severity (β = 0.239, 95% CI [0.173, 0.305], standardized β = 0.342, p < 0.001) and may reflect measurement during peak examination stress rather than stable trait-outcome relationships. Hostel residents showed non-significantly higher clinical insomnia prevalence than day scholars (75.9% vs. 67.5%, p = 0.081). Clinical-year students demonstrated significantly lower insomnia severity than pre-clinical students (β = −1.271, p < 0.001), a finding that contradicts assumptions about increasing stress through training progression. The neuroticism × living arrangement interaction was non-significant (p = 0.118); however, post hoc power analysis indicated the study was underpowered to detect small moderation effects, making this finding inconclusive. Conclusions: This study documents high insomnia symptom severity during a 2-week assessment period in Pakistani medical students, with a robust cross-sectional association with neuroticism. However, these findings must be interpreted within the constraints of the cross-sectional design, which cannot establish temporal precedence or causality between neuroticism and insomnia symptoms. These symptom prevalence rates likely reflect a combination of chronic sleep disorders and transient examination-related stress. Living arrangements showed small, non-significant associations with insomnia. The observed association between neuroticism and insomnia may be partially mediated or confounded by unmeasured variables, including academic stress, psychiatric comorbidities, substance use, and other sleep disorders. Findings suggest potential benefits from interventions addressing cognitive-emotional factors, though comprehensive diagnostic assessment is needed to distinguish chronic insomnia disorder from transient, stress-related sleep difficulties. Longitudinal research with objective sleep measures, structured psychiatric assessment, and systematic confounder evaluation is essential to establish causal relationships and intervention efficacy in this population. Full article

Background/Objectives: Suprascapular nerve block (SSNB) is a useful therapeutic option for chronic shoulder pain, although the synergistic use of corticosteroids with anesthetics to prolong its effect is a controversial topic. The primary objective of this study was to compare the evolution of pain and functionality using the visual analog scale (VAS) and the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire between patients treated with SSNB with corticosteroids (cSSNB) and without them (sSSNB). Methods: A retrospective, observational, longitudinal, analytical cohort study was conducted in 28 patients (14 n per group) aged 50–80 years who had undergone SSNB with 4 mL of 0.25% bupivacaine and 40 mg/mL triamcinolone during 2024 for chronic shoulder pain lasting more than 6 months. The variables to be collected were VAS, DASH, range of motion (ROM) and Lattinen Index (LI) at baseline, the first and the third month. Patients were grouped according to the type of SSNB (cSSNB vs. sSSNB) and analyzed longitudinally and cross-sectionally using IBM-SPSS Statistics version 28.0.0. Results: Regarding pain, the cSSNB obtained a significant reduction in the median VAS of 4 points in the first month (p = 0.001) and in the third month (p = 0.002). In addition, significantly lower evaluations in VAS were obtained in the third month of 3 points (p = 0.04) in favor of the cSSNB. Regarding functionality, a reduction in evaluations with respect to the initial DASH were observed only in the cSSNB, with a difference in the first month of 21.80 points (p = 0.001) and 21.35 points (p = 0.003) in the third month. In addition, differences between groups were found, in favor of the cSSNB, of 19.20 points (p = 0.017) in the first month and 12.55 points (p = 0.012) in the third month. Conclusions: The combined use of corticosteroids in SSNB appears to be associated with better short-to medium-term outcomes in terms of pain and function, compared to the use of SSNB without corticosteroids in chronic rotator cuff pathologies. Full article

Knee osteoarthritis (OA) is a whole-joint disease involving subchondral bone lesion (BML) that predict treatment outcomes. This retrospective, non-randomized study compared extracorporeal shockwave therapy alone (ESWT), autologous protein solution and ESWT (APS), intra-articular mesenchymal stromal cell and ESWT (MSC-A), and combined intra-articular and intra-osseous MSC and ESWT (MSC-B) for knee OA with BML. We hypothesized that combination therapies would provide superior and earlier outcomes for advanced cases. The primary outcome was the change in the Knee Injury and Osteoarthritis Outcome Score (KOOS) at 3 and 6 months. The results showed ESWT was effective, but only in the absence of articular surface collapse (KOOS IV (pre–6M) = 18.6 ± 13.9) vs. presence of collapse (4.4 ± 6.5). APS led to earlier improvement in cases without subchondral bone plate (SBP) tear (KOOS IV (pre–3M) = 18.4 ± 12.7) vs. ESWT 12.0 ± 14.0). MSC-A with SBP tear achieved significant early gain (KOOS IV (pre–3M) = 13.9 ± 10.1) but plateaued by 6 months. MSC-B without collapse showed significant 6-month improvement (KOOS IV (pre–6M) = 15.8 ± 8.6), but failed in collapse cases (KOOS IV (pre–6M) = −4.4 ± 7.7). ESWT is effective, APS provides early benefits, and MSC-B is promising for advanced SBP tear cases, but articular surface collapse limits efficacy across all therapies. Full article

Background/Objectives: To investigate the efficacy and safety of treatment with [¹⁷⁷Lu]Lu-PSMA-I&T Radioligand Therapy (PSMA-RLT) in older patients (≥80 years) vs. younger ones with metastatic castration-resistant prostate cancer (mCRPC). Methods: In this retrospective single-center analysis, 103 patients treated with PSMA-RLT between 2019 and 2024 were included. Overall survival (OS) and therapeutic response were assessed by PSA serum and based on PET/CT Imaging according to the RECIP 1.0 criteria, respectively. Toxicity was additionally assessed via laboratory (hemoglobin, cell counts, and serum creatinine). Adverse events (AEs) were detected according to CTCAE V.5. Results: Median OS did not differ significantly in patients ≥ 80 years vs. <80 years (13.7 vs. 16.1 months, respectively). PSA decline of ≥50% was achieved in 32% patients in total, comparably in both groups (29.4% vs. 34.8%). According to RECIP 1.0, the majority of patients with both ≥80 and <80 years demonstrated stable disease or partial responses in imaging (64% and 71%, post two cycles). Concerning toxicity, the most frequently observed AE was anemia, which occurred in both <80 and ≥80 subgroups (grade 3: 2.8% vs. 5.9%); however, no grade 4 anemia was recorded. Renal function remained stable throughout treatment, and no AE grade 3 or higher was observed. Overall, the safety profile was comparable between age groups. Conclusions: Treatment with PSMA-RLT can be both effective and well tolerated in patients with mCRPC aged 80 years and older. Full article

Background and Objectives: Chronic low back pain (CLBP) is associated with altered neuromuscular control. Dynamic Neuromuscular Stabilization (DNS) targets core–limb coordination; however, its specific impact on lower-limb electromyographic (EMG) activity during gait remains unclear. Materials and Methods: Fifty-five young adults with non-specific CLBP (pain ≥ 3 months with no identifiable specific pathology) completed the trial (overall mean age 23.7 ± 1.3 years). Participants were randomized to an 8-week DNS program or a control. Pre-/Post-intervention surface EMG during gait and clinical outcomes (VAS, ODI) were assessed. Results: Compared with control, DNS showed lower adjusted Post-test VAS (3.08 ± 0.25 vs. 6.13 ± 0.24; ηp² = 0.596) and ODI (15.73 ± 1.55% vs. 34.36 ± 1.52%; ηp² = 0.579). Directionally, DNS was associated with phase-specific EMG modulation: tibialis anterior during mid-stance was lower (ηp² = 0.137), rectus femoris during push-off was lower (ηp² = 0.119), biceps femoris during push-off was lower (ηp² = 0.168), and vastus medialis at heel-strike was higher (ηp² = 0.077) relative to control. Other muscle–phase pairs showed no adjusted between-group differences. Conclusions: An 8-week DNS program was associated with clinically meaningful reductions in pain and disability and with phase-specific changes in lower-limb EMG during gait. These findings support DNS as a promising rehabilitation option for young adults with CLBP; confirmation in larger trials with active comparators is warranted. Full article

Background/Objectives: Paediatric patients continue to lack access to age-appropriate oral medicines for their treatment and have to depend on the off-label use of medicines approved for adults, which compromises dosing accuracy and exposes children to unpleasant bitterness. Building on previous proof-of-concept work with flucloxacillin sodium, this study investigated the effects of fatty-acid chain length on the formation, stability, dissolution, and sensory acceptability of diclofenac sodium (DS)–Eudragit® EPO (EE)–fatty acid (FA) polyelectrolyte complexes (PECs). Four saturated fatty acids, lauric (C12), myristic (C14), palmitic (C16), and stearic acid (C18), were evaluated at stoichiometric equimolar DS:EE:FA ratio (1:1:1). Methods: PEC microparticles were prepared by solvent evaporation. A stability-indicating RP-HPLC assay was developed and validated according to ICH guidelines to quantify DS content. Drug content and stability were monitored over 3 months at ambient storage. In vitro dissolution was performed in pH 5.5 medium at 37 °C. Taste acceptability and willingness to take again was assessed with 25 healthy adult volunteers using 11-point scale. Results: All PECs retained >90% of expected drug content after 3 months. Compared with neat DS, PECs markedly suppressed early drug release (32–39% vs. 94% at 2 min) but achieved >87% cumulative drug release in 60 min. Sensory evaluation showed significant differences across samples (p < 0.001): neat DS was least acceptable (20.8% willing to take again), while DS-EE-PA was most acceptable (92%), followed by DS-EE-SA and DS-EE-MA. DS-EE-LA was least favoured among PECs. Conclusions: Fatty-acid chain length influenced PEC formation and taste acceptability, but not the PEC stability and drug dissolution profile. Palmitic acid (DS-EE-PA) offered the best overall profile and represents a promising candidate for further development of paediatric-appropriate diclofenac formulations. Full article

Introduction: To evaluate the feasibility of multimodal deep learning (DL) for automated staging of familial exudative vitreoretinopathy (FEVR) using color fundus photographs (CFP) and fluorescein angiography (FFA). Methods: We assembled a multimodal dataset across FEVR stages 0–5 and post-laser cases and benchmarked CNNs (Convolutional Neural Networks), Transformers, and multimodal fusion under center-region and multi-image settings. Class imbalance was mitigated via weighted sampling and focal/class-balanced losses. We report accuracy, recall, precision, macro-F1, Cohen’s κ, and class-wise ROC/AUC with 95% Cis. Results: AI system showed balanced performance versus specialists (0.65 vs. Dr. A: 0.48/Dr. B: 0.48) in CFP assessment, maintaining high specificity (0.91–0.92). Among architectures: (1) Transformers outperformed CNNs in single-modal analysis; (2) ResNet showed moderate performance (AUC 0.70–0.85) but limited capability for intermediate grades (AUC < 0.70); (3) CRD-Net achieved peak performance (AUC up to 0.94, severe cases AUC > 0.90). While FFA improved Dr. B’s accuracy to 0.56, it remained below AI levels. Stage-specific accuracy ranged from 0.72 to 0.88 across the FEVR spectrum. Conclusions: Leveraging a novel multimodal database and high-performance AI models, systematic comparisons demonstrated the superiority of Transformer architectures over CNNs in single-modal analysis, while CRD-Net’s multimodal fusion approach achieved optimal performance across all severity grades. Multimodal DL shows feasibility as a decision-support tool for automated FEVR staging within confirmed cohorts. Full article

Background: Acute heart failure (AHF) is a common cause of hospital admission with high morbidity and mortality. Up to one-third of AHF patients require rehospitalization during the first three months after discharge due to the nature of disease and the patient’s characteristics. In this regard, the first 3 months after an episode of decompensation of heart failure are called the “vulnerable” period. However, there is a gap in knowledge about the significance of this rehospitalization on heart failure course. The aim of the study is to evaluate impact on mortality of AHF rehospitalization during 3 months after hospital discharge on a retrospective registry with 3 year follow-up. Methods: Patients after AHF hospitalization episode between 1 December 2020 and 30 November 2023were monitored via electronical medical records for 3 year follow-up. All patients who survived after index hospitalization were included. The primary endpoint was all-cause mortality. COX-multiple regression was used to evaluate the impact of rehospitalization during 90 days after index discharge on outcomes. p values less than 0.05 were considered to be significant. Results: A cohort of 204 patients, 56.6% males, with an average age of 72 ± 13 years, were included in the study with medium follow-up of 22 ± 12 months. Within 3 months after discharge, 55 (27%) patients were rehospitalized for AHF, and 11 (5%) patients died. Patients who experienced a recurrent episode of AHF were characterized by a history of previous hospitalizations for AHF before inclusion (39 (71%) vs. 72 (48%); p = 0.005), the use of intravenous inotropic drugs (5 (9%) vs. 2 (1%); p = 0.007), higher initial doses of furosemide during index hospitalization (98 ± 46 vs. 82 ± 37; p = 0.01), and higher doses of furosemide at discharge (54 ± 41; 41 ± 33; p = 0.02). Left ventricular ejection fraction (LVEF), prevalence of atrial fibrillation (AF), diabetes mellitus (DM), and chronic kidney disease (CKD) did not differ between the groups. Over 3 years follow-up, 68 (33.2%) patients died, and cardiovascular mortality was 15.6% (32 patients). In multivariate COX-regression age (HR 1.04 [1.008–1.07]), heart rate (HR) on admission (HR 1.02 [1.004–1.03]), and hospitalization within the first 3 months after discharge were independent predictors of death (HR 2.21 [1.32–3.83]). Conclusions: Readmission for AHF within the first 3 months after discharge is an independent risk factor for all-cause cardiovascular mortality during 3 years follow-up. Full article

Ziziphus lotus (L.) Lam., (Rhamnaceae) a resilient shrub native to Moroccan’s arid regions, functions as a keystone species by creating microhabitats that buffer temperature extremes, retain soil moisture, and accumulate organic matter. However, its role in structuring soil fungal diversity and community composition in these environments remains largely unexplored. This study investigated the spatial distribution of fungal communities associated with Z. lotus in barley-planted and non-planted fields. Soil samples were collected at 0, 3, and 6 m from shrub clusters during the barley harvest. The fungal community was dominated by Ascomycota (93.5%). Alpha diversity indices (Shannon–Wiener and Simpson) were significantly higher near shrub bases (0 and 3 m) compared to more distant soils (6 m), indicating a clear decline in diversity with distance (0 m vs. 6 m: p = 0.0012; 3 m vs. 6 m: p = 0.0007). Soil physicochemical parameters, including calcium carbonate content, nitrate, and salinity, significantly influenced fungal diversity (p ≤ 0.05). Beta diversity analysis revealed significant spatial differentiation in fungal community composition (PERMANOVA: p = 0.001). Overall, fungal richness and diversity were highest near shrub. Genera such as Cladosporium, Fusarium, and Alternaria were more abundant near shrub bases, while taxa like Didymellaceae and Alfaria were specially restricted. Functional predictions indicated dominance of fungi with mixed trophic modes (pathotroph–saprotroph–symbiotroph), suggesting ecological plasticity. Despite barley cultivation, the fungal community structure remained largely similar between the planted and non-planted fields. Overall, our findings underscore the ecological importance of Z. lotus as a reservoir of stress-tolerant fungi and as a potential keystone species for restoring degraded arid ecosystems. Full article

Background: Dose-sparing approaches can be effective in maintaining immunogenicity and safety while expanding vaccine coverage. We previously demonstrated that a half dose of ChAdOx1 nCoV-19 is as effective and immunogenic for primary vaccination. Methods: This non-inferiority, non-randomized controlled trial evaluated the effectiveness, humoral, and cellular immune responses of a third booster dose—comparing half-dose and full-dose regimens—in individuals aged 18–49 years, with a 1-year follow-up. Results: A total of 2801 participants were enrolled: 2352 received half doses and 449 received full doses. The incidence rate of COVID-19 was 225.0 per 1000 person-years in the half-dose group and 173.8 in the full-dose group, with no significant difference in effectiveness (β = −0.05; 95% CrI: −0.24 to 0.15). No deaths occurred, and hospitalization rates were similar. In a subsample (n = 558), anti-S IgG levels peaked 28 days post-dose and declined by day 180 after the primary series [175 (121–252) vs. 121 (71–208) GMT, p < 0.001], but remained elevated after the booster [192.1 (124–297) vs. 550 (380–797) GMT, p < 0.001]. Booster antibody levels were similar between groups [592.4 (318–1140) vs. 550 (380–797) GMT]. The half-dose group showed high titers against Omicron and robust T/B-cell responses (e.g., EMCD4, EMCD8, IFN⁺CD4⁺, CD19⁺TNF⁺). Conclusions: Fractional half dose of ChAdOx nCov-19 was effective and non-inferior to a full booster dose. Homologous regimen with 3 half doses or 3 full doses induced a similar increase in antibody titers and robust cellular response. ClinicalTrials.gov (NCT05059106). Full article

Background: Pediatric acute myeloid leukemia (pAML) is the second most common type of childhood leukemia, behind acute lymphoblastic leukemia. High-throughput technologies have enabled the identification of increasing molecular alterations linked to AML prognosis, revealing genomic heterogeneity among individual patients and providing clinically valuable diagnostic and prognostic information. This study systematically analyzed the correlation between high-frequency mutated genes and prognosis in pAML by performing whole-transcriptome sequencing (WTS) of bone marrow samples from newly diagnosed AML children in Southwest China and mapping their genetic profiles. Methods: pAML patients treated at the Department of Hematology and Oncology, Children’s Hospital of Chongqing Medical University, from January 2015 to October 2024, were enrolled, and WTS was performed. The study described the frequency, pathogenicity classification, and risk stratification of mutation genes and fusion genes, and constructed a genetic landscape. For high-frequency pAML mutations, the impact on early induction remission rate (CR) and long-term event-free survival (EFS) was evaluated. Results: A total of 134 pediatric AML patients from Southwest China were included, with a male-to-female ratio of 74:60 and a median diagnosis age of 5.96 years. Based on pathogenicity classification using WTS, fusion genes were categorized into level 1, level 2, and level 3 genes, as well as mutation genes. The study identified five fusion genes of level 1, the most frequent being RUNX1::RUNX1T1 (32/134, 23.88%), KMT2A rearrangements (29/134, 21.64%), and CBFB::MYH11 (13/134, 9.7%). Sixteen mutation genes of level 1 were detected, seven of which recurred in over 5% of patients, including NRAS (31/134, 23.13%), FLT3 (25/134, 18.66%), KIT (24/134, 17.91%), CEBPA (14/134, 10.45%), WT1 (13/134, 9.7%), KRAS (11/134, 8.2%), and PTPN11 (7/134, 5.22%). Sex-based analysis revealed that PTPN11 mutations were significantly more frequent in males (9.45% vs. 0%, p = 0.023), as were KIT mutations (24.32% vs. 10.00%, p = 0.044). Risk-stratified analysis showed that WT1 mutations (14.13% vs. 0%, p = 0.031) and FLT3-ITD mutations (13.19% vs. 0%, p = 0.042) were enriched in intermediate- and high-risk groups, whereas CEBPA (25.64% vs. 5.43%, p = 0.012), KIT (35.90% vs. 10.87%, p = 0.003), and KIT-E8 (20.51% vs. 1.10%, p < 0.001) mutations were more prevalent in low-risk groups. Prognostic analysis indicated that PTPN11 and KIT mutations did not affect CR or EFS across sexes, nor did WT1, CEBPA, or KIT mutations influence outcomes by risk stratification. However, FLT3-ITD-positive patients had significantly lower CRs (χ² value = 11.965, p = 0.007), although EFS differences were nonsignificant. In contrast, WT1 mutations were associated with inferior EFS compared to wild-type (p = 0.036). Furthermore, the univariate and multivariate Cox regression revealed consistent results with the above findings, indicating that WT1 mutation was an independent adverse prognostic factor for EFS (HR = 2.400, 95% CI: 1.101–5.233, p = 0.028). The results of univariate and multivariate logistic regression analyses also confirmed that FLT3-ITD mutation was an independent predictor of initial treatment response in our cohort (OR = 10.699, 95% CI: 2.108–54.302, p = 0.004). Conclusions: This study delineated the genetic landscape of pAML in Southwest China and explored the prognostic value of gene fusions and mutations in early and long-term outcomes. These findings provide a foundation for understanding the genetic heterogeneity of pAML and offer evidence for the development of precision medicine approaches. Full article

(1) Background: Resting heart rate (RHR) is an easily measurable cardiovascular risk indicator, yet its relationship with cardiometabolic risk factors remains understudied in rural African populations. This study investigated the association between RHR and cardiovascular risk factors among adults in the rural Ellisras community, South Africa. (2) Methods: A cross-sectional analysis was conducted among 629 participants (306 males, 323 females) aged 18 years and above from the Ellisras Longitudinal Study. Anthropometric measurements, blood pressure, biochemical parameters, and lifestyle factors were assessed. RHR was categorized as normal (60–100 bpm), bradycardia (<60 bpm), or tachycardia (>100 bpm). Statistical analysis included descriptive statistics, chi-square tests, Pearson correlations, and logistic regression to identify predictors of abnormal RHR. (3) Results: The mean age was 25.55 ± 1.97 years, with significant gender differences in cardiovascular parameters. Females had higher RHR (81.78 ± 11.73 vs. 70.36 ± 12.89 bpm, p < 0.001), body mass index (BMI) (24.62 vs. 20.67 kg/m², p < 0.001), and waist circumference (WC) (81.00 vs. 73.50 cm, p < 0.001). Resting heart rate (RHR) distribution varied significantly by gender (p < 0.001), with bradycardia more prevalent in males (91.3% vs. 8.7%) and tachycardia in females (75.0% vs. 25.0%). Significant positive correlations were observed between RHR and age (r = 0.105, p = 0.009), diastolic blood pressure (DBP) (r = 0.135, p < 0.001), fasting blood glucose (FBG) (r = 0.098, p = 0.016), total cholesterol (TCHOL) (r = 0.168, p < 0.001), LDL-C (r = 0.201, p < 0.001), WC (r = 0.169, p < 0.001), and sum of 4 skinfolds (bicep, tricep, subscapular and supraspinale) and (r = 0.184, p < 0.001). A negative correlation was found with systolic blood pressure (SBP) (r = −0.105, p < 0.001). In the logistic regression analysis, participants aged >25 years had significantly lower odds of abnormal RHR (OR = 0.50, 95% CI: 0.26–0.97, p = 0.039), after adjusting for confounders. In the fully adjusted model, RHR remained significantly associated with DBP (β = 0.59, p < 0.001), LDL-C (β = 2.76, p = 0.008), WC (β = 0.10, p = 0.012), and triglycerides (TG) (β = 2.78, p = 0.002). (4) Conclusions: RHR demonstrates significant associations with multiple cardiovascular risk factors in this rural South African population, with distinct gender-specific patterns. Age emerged as the primary independent predictor of abnormal RHR. These findings suggest that RHR could serve as a valuable, cost-effective screening tool for cardiovascular risk assessment in resource-limited rural settings. Full article