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Abstract Background Congenital early-onset scoliosis (CEOS), particularly due to hemivertebra, presents significant challenges in spinal deformity correction. The standard surgical approach, hemivertebra resection combined with short-segment fusion, can be complicated by the crankshaft phenomenon, a progressive deformity that may develop postoperatively. This study aims to evaluate the long-term surgical outcomes of single-stage posterior hemivertebra resection with mono-segment fusion in CEOS, stratified by the presence or absence of the crankshaft phenomenon. Methods A retrospective analysis was performed on 31 CEOS patients who underwent single-stage posterior hemivertebra resection and mono-segment fusion between 2003 and 2019. Patients were grouped based on the presence (n = 9) or absence (n = 22) of the crankshaft phenomenon. Clinical and radiographic outcomes, including main curve correction, compensatory curves, apical vertebral translation (AVT), coronal balance (CB), and sagittal balance (SB), were assessed at preoperative, immediate postoperative, and latest follow-up points. Statistical analyses were performed using SPSS and R software. Results The cohort showed significant deformity correction with an initial main curve angle reduction from 29.76° to 7.34° (76% correction rate), though some loss of correction was observed at the last follow-up (12.28°). The group with the crankshaft phenomenon exhibited a significantly lower initial correction rate (62%) compared to the non-crankshaft group (82%), with a higher rate of curve progression at follow-up (25.02° vs. 7.06°). Compensatory curves, AVT, and CB showed differences between groups, with those having the crankshaft phenomenon demonstrating worse outcomes. However, no significant differences were found in sagittal parameters (segmental kyphosis, thoracic kyphosis, and lumbar lordosis) between the two groups. Conclusions The study demonstrates that single-stage posterior hemivertebra resection with mono-segment fusion is effective in correcting deformities in CEOS patients. However, the presence of the crankshaft phenomenon is associated with a poorer long-term surgical outcome, including higher rates of curve progression and worse compensatory curve management. These findings highlight the importance of identifying the crankshaft phenomenon as a potential factor influencing the prognosis of surgical correction in CEOS.

Abstract The occurrence of public health emergency in China often makes nurses more susceptible to anxiety. The present study aimed to investigate the prevalence of anxiety among Chinese nurses during the public health emergency and explore the association between family function and anxiety and its underlying mechanisms. Family care index questionnaire, Connor-Davidson Resilience scale, physical activity rating scale and 7-item Generalized Anxiety Disorder Scale were employed to measure family function, resilience, physical activity and anxiety among 779 Chinese nurses during public health emergency. The prevalence of anxiety among nurses during public health emergency was 29.9%. Resilience partially mediated the association of anxiety with family function. Physical activity moderated the direct and indirect effects of family function on anxiety. The direct effect became insignificant when the standard scores of physical activity were 0.629 and over. In contrast, the indirect effect of family function on anxiety through resilience was stronger when the levels of physical activity increased. The present study suggested for nurses with low levels of physical activity, intervention enhancing family function should be designed to prevent anxiety. For those with higher levels of physical activity, programs aimed at strengthening family function and supporting resilience should be developed to manage anxiety.

Abstract The Crankshaft Phenomenon (CSP) is a significant complication that can occur after posterior spinal fusion, particularly in growing patients with scoliosis. It results from continued anterior spinal growth while the posterior column remains fused, leading to progressive spinal deformities such as loss of correction, increased vertebral rotation, and rib prominence. This phenomenon has been predominantly observed in pediatric patients with idiopathic, congenital, and neuromuscular scoliosis. Although clinical symptoms may be subtle, radiographic signs are crucial for diagnosis but can be challenging to evaluate due to postoperative changes and instrumentation. Current treatment options are limited, often requiring revision surgeries in cases of progressive deformities. This review aims to provide a comprehensive overview of the current understanding of CSP, including its pathophysiology, diagnostic challenges, risk factors, prevention strategies, and potential treatments.

Abstract Background The liver‒brain axis is critical in neurodegenerative diseases (NDs), with lipid metabolism influencing neuroinflammation and microglial function. A systematic investigation of the genetic relationship between lipid metabolism abnormalities and ND, namely, Alzheimer's disease (AD), Parkinson's disease (PD), multiple sclerosis (MS), and amyotrophic lateral sclerosis (ALS), is lacking. To assess potential causal links between ND and six lipid parameters, two-sample Mendelian randomization (MR) was used. Methods Large-scale European ancestry GWAS data for lipid parameters and ND (AD, ALS, PD, and MS) were used. Genetic variants demonstrating significant correlations (P

Abstract Background Compound inheritance of TBX6 accounts for approximately 10% of sporadic congenital scoliosis (CS) cases. Such cases are called TBX6-associated congenital scoliosis (TACS). TACS has been reported to have certain common clinical phenotypes. However, whether the surgical outcomes of TACS patients differ from those of other CS patients remains unclear. Methods We retrospectively searched for patients who were diagnosed with scoliosis. TACS was identified in genetic testing for CS. After propensity score matching, patients with TACS were matched with patients with NTACS according to sex, age, main curvature, classification, deformity location, surgical methods, fusion segment and number of fusions. We evaluated and compared the coronal and sagittal radiographic parameters before surgery, immediately after surgery, and at the final follow-up. Surgical information, including surgical method, fusion segment, blood loss and complications, was also compared and analyzed. Results Twenty-eight TACS patients were propensity score matched with 28 NTACS patients among 473 CS patients. The preoperative matching parameters mentioned in the Methods section were similar between the TACS group and the NTACS group. In the TACS group, the correction rate of the cranial compensatory curve (64.9 ± 18.6% vs. 51.2 ± 24.0%, P = 0.014) and the correction rate of the caudal compensatory curve (77.4 ± 12.5% vs. 65.4 ± 22.7%, P = 0.011) were significantly greater than those in the NTACS group, and the loss rate of correction of the cranial compensatory curve in the TACS group (0.6 ± 19.2% vs. 26.7 ± 50.8, P = 0.002) was significantly lower than that in the NTACS group. The total complication rate (7.2% vs. 14.3%) and incidence of adding-on (0 vs. 7.1%) were lower in the TACS group than in the NTACS group. There were no significant differences between the two groups in terms of blood loss, revision rate, other correction parameters, balance parameters or incidence of complications. Conclusions TACS patients had better surgical outcomes than NTACS patients, which means that genetic diagnosis of the TBX6 gene mutation in CS before surgery can help predict better surgical outcomes. The specific genetic mechanism is not yet clear and may be related to the relatively normal development of paravertebral tissues in TACS patients. Further research is needed. Level of evidence Leve: III.

Abstract Objective This study assessed the efficacy and safety of magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) versus open surgery (OS) for the treatment of patients with bottom‐of‐sulcus dysplasia (BOSD)‐related epilepsy. Methods Twenty‐two patients underwent MRgLITT, while 39 underwent OS. Postoperative seizure‐free rates were analyzed using Kaplan–Meier curves. The removal ratio, which represents the extent of damage, was calculated based on preoperative lesion volume and postoperative removal volume. Other outcomes, including adverse events, operative time, and hospital stay, were also compared. Results Kaplan–Meier curves indicated the seizure‐free rates were comparable between the MRgLITT group (90.9%, 26.5 [23.0, 35.1] months) and OS group (89.7%, 25.2 [16.2, 34.6] months) at the final follow‐up (p = 0.901, log‐rank test). The removal ratio of MRgLITT (1.3 [1.1, 1.7]) was significantly lower (p = 0.007) than that of OS (5.8 [3.6, 8.5]). A comparison of postoperative neurological deficits, infection rates, and fever rates revealed no significant differences between MRgLITT and OS groups. The operative time (hours) of MRgLITT (3.0, [2.1, 4.9]) was significantly shorter (p = 0.007) than that of OS (3.5 [3.0, 4.5]). The hospital stay (days) after MRgLITT (6 [5.0, 7.5]) was significantly shorter (p

ABSTRACT Objective There has been no definitive conclusion on the selection of the lowest instrumented vertebra (LIV) in Lenke 5C adolescent idiopathic scoliosis (AIS) patients. The purpose of this study was to evaluate whether it is enough to stop distal fusion at L3 in mild to moderate Lenke 5C AIS patients with posterior selective lumbar fusion, Ponte osteotomies and segmental direct vertebra rotation and to analyze the risk factors for postoperative complications in patients selecting L3 as the LIV. Methods A retrospective review was conducted on 106 Lenke 5C AIS patients who underwent corrective surgery in our institution from 2010 to 2021, with a minimum 2‐year follow‐up. The LIV was L3 or L4. According to the LIV, patients were initially divided into Group I (the LIV was L3) and Group II (the LIV was L4). Then, Group I was further divided into a complication group and a non‐complication group. Demographics, radiological parameters, postoperative complications, and clinical outcomes were recorded. Univariate analysis and multivariate logistic analysis were used to identify the risk factors for postoperative complications in patients with L3 as the LIV. Results There were no significant differences in the demographics, radiological parameters, postoperative complications, or clinical outcomes between Group I and Group II (p > 0.05), and the outcomes were satisfactory in both groups. The main postoperative complications were distal adding‐on (11 cases), coronal imbalance (16 cases), proximal junctional kyphosis (2 cases), and internal fixation failure (4 cases). Logistic regression analysis revealed that age and postoperative C7‐CSVL were independent predictors of postoperative complications when selecting L3 as the LIV. Conclusion Terminating the distal fusion level at L3 was practical for mild to moderate Lenke 5C AIS patients. For patients selecting L3 as the LIV, younger patients should be cautious, and maintaining postoperative coronal balance is necessary for avoiding postoperative complications.

Objective Emerging scoliosis (ES) is a rare phenomenon after hemivertebra (HV) resection and short segmental fusion. Since the introduction of the ES, there have been rare in‐depth studies. The aim of the present study was to further analyze the characteristics, risk factors, treatment, and prognosis of ES. Methods A retrospective study analyzed patients with congenital scoliosis due to a single HV who underwent posterior correction and short fusion from 2002 to 2022. ES was defined as a Cobb angle ≥20° from its initial value and an apical vertebra located ≥2 levels away from the fusion region. ES patients and non‐ES patients were matched at a 1:2 ratio. Both demographics and radiological parameters were compared. Univariate analysis and multivariate logistic analysis were used to identify the risk factors of ES. Results Among 261 patients, 13 patients (5.0%) experienced ES. There were eight females and five males. The mean age of the ES patients at the time of primary surgery was 6.6 ± 3.7 years old (2.0–13.2 years old), with a mean follow‐up of 64.2 ± 47.9 months (12–156 months). The ES could be further divided into three types: balance‐related ES, complication‐related ES, and separated ES. There were three balance‐related ESs, six complication‐related ESs, and four separated ESs. At the last follow‐up, six patients were under observation, six patients underwent brace treatment, and one patient underwent revision surgery. Multivariate logistic analysis showed that the magnitude of postoperative compensatory curve (CC) was an independent risk factor for ES (OR = 1.172, p = 0.014). Conclusions ES is an extraordinary phenomenon after HV resection and short fusion, and it can be divided into three types. The magnitude of postoperative CC was an independent risk factor for ES. According to the severity of ES, observation, brace, or surgery can be chosen.

Abstract Background In China many respiratory pathogens stayed low activities amid the COVID-19 pandemic due to strict measures and controls. We here aimed to study the epidemiological and clinical characteristics of pediatric inpatients with Mycoplasma pneumoniae pneumonia (MPP) after the mandatory COVID-19 restrictions were lifted, in comparison to those before the COVID-19 pandemic. Methods We here included 4,296 pediatric patients with MPP, hospitalized by two medical centers in Jiangsu Province, China, from January 2015 to March 2024. Patients were divided into the pre-COVID (n = 1,662) and post-COVID (n = 2,634) groups. Their baseline characteristics, laboratory test results and radiological patterns were separately assessed and compared between the two groups to determine the substantial changes in the disease profile of MPP after the COVID-19 pandemic. Results Epidemiological results suggested a higher annual incidence of MPP after the COVID-19 pandemic when the outbreak reached a peak in October, two months delayed in seasonality compared to that in the pre-COVID era. For pediatric patients with MPP, there was no difference in their median ages, gender ratios, and severe case percentages between the two groups, where most patients were younger than 14 years old. With significance, the post-COVID group had more occurrences of cough and expectoration and higher incidences of influenza A/B virus (IAV/IBV) co-infection than the pre-COVID group. Many hematological parameters and radiological features between the two groups displayed alteration, but comparatively there demonstrated no worsened severity in hospitalized children with MPP after COVID-19 pandemic. Concurrently, the post-COVID group was administered with fewer antibiotics but more corticosteroids for effective treatment than the pre-COVID group. Conclusion Through the COVID-19 pandemic, the epidemiological and clinical characteristics of pediatric patients with MPP differed, but there was no evident change in the disease severity. After the COVID-19 pandemic, the increased incidence of IAV/IBV co-infection may contribute to the differences in clinical symptoms and hematological profiles, while the adding usage of corticosteroids might treat more effectively.

Abstract Catheter-based pulmonary artery denervation (PADN) has achieved promising outcomes to treat pulmonary hypertension (PH). We herein present stereotactic body radiotherapy (SBRT) as a novel noninvasive approach for PADN. A single fraction of 15 Gy, 20 Gy or 25 Gy was delivered for PADN in a thromboxane A2 (TxA2) - induced acute PH swine model. We demonstrated that PADN by 20-Gy SBRT reduced mean pulmonary artery (PA) pressure during the TxA2 challenge. All SBRT dosages led to a deeper denervation area compared with radiofrequency ablation (RFA) and reduced sympathetic neural norepinephrine synthesis in the ablation zone. Probable radiation related side effects were mostly found in animals treated with 25-Gy. In subsequent monocrotaline-induced chronic PH animals, PADN by 20-Gy SBRT resulted in more significant improvement in pulmonary hemodynamics and PA remodeling in comparison to RFA. In summary, our findings suggest that appropriate SBRT scheme could balance the efficacy and safety for PADN, potentiating to be a novel strategy to treat PH.

Abstract Background Immunotherapy has revolutionized the therapeutical regimen for nasopharyngeal carcinoma (NPC), yet its response rate remains insufficient. Programmed death‐ligand 1 (PD‐L1) on small extracellular vesicles (sEVs) mediates local and peripheral immunosuppression in tumors, and the mechanism of PD‐L1 loading into these vesicles is garnering increasing attention. Latent membrane protein 1 (LMP1), a key viral oncoprotein expressed in Epstein‐Barr virus (EBV)‐positive NPC, contributes to remodeling the tumor microenvironment. However, the precise mechanisms by which LMP1 modulates tumor immunity in NPC remain unclear. Here, we aimed to investigate the roles and regulatory mechanisms of LMP1 and sEV PD‐L1 in NPC immune evasion. Methods We analyzed the impact of LMP1 on tumor‐infiltrating lymphocyte abundance in NPC tissues and humanized tumor‐bearing mouse models using multiplex immunofluorescence (mIF) and flow cytometry, respectively. Transmission electron microscopy and nanoparticle tracking analysis were employed to characterize sEVs. Immunoprecipitation‐mass spectrometry was utilized to identify proteins interacting with LMP1. The regulatory effects of sEVs on tumor microenvironment were assessed by monitoring CD8+ T cell proliferation and interferon‐γ (IFN‐γ) expression via flow cytometry. Furthermore, the expression patterns of LMP1 and downstream regulators in NPC were analyzed using mIF and survival analysis. Results High LMP1 expression in NPC patient specimens and mouse models was associated with restricted infiltration of CD8+ T cells. Additionally, LMP1 promoted sEV PD‐L1 secretion, leading to inhibition of CD8+ T cell viability and IFN‐γ expression in vitro. Mechanistically, LMP1 recruited apoptosis‐linked gene 2‐interacting protein X (ALIX) through its intracellular domain and bound PD‐L1 through its transmembrane domain, thereby facilitating the loading of PD‐L1 into ALIX‐dependent sEVs. Disruption of ALIX diminished LMP1‐induced sEV PD‐L1 secretion and enhanced the anti‐tumor immunity of CD8+ T cells both in vitro and in vivo. Moreover, increased expression levels of LMP1 and ALIX were positively correlated with enhanced immunosuppressive features and worse prognostic outcomes in NPC patients. Conclusion Our findings uncovered the mechanism by which LMP1 interacts with ALIX and PD‐L1 to form a trimolecular complex, facilitating PD‐L1 loading into ALIX‐dependent sEV secretion pathway, ultimately inhibiting the anti‐tumor immune response in NPC. This highlights a novel target and prognostic marker for NPC immunotherapy.

ObjectiveThe practice of coal mine production has proved that the vast majority of coal and gas outbursts are controlled by geological structures, and mainly occur in tunnelling working site. Therefore, continuous advanced detection of geological structures is an important technical means to prevent and control coal and gas outbursts in tunnelling working site, and is of great significance to ensure safe production in mines. MethodsBased on the research results of spectral acoustic method in Russia for many years, the resonance phenomenon generated at the weakened contact surface of the roof rock layer by the artificial acoustic signal excited by the coal cutting machine is utilized to construct the prediction coefficient of geological structure based on the stress index and frequency index. Through the monitoring and early warning system composed of seismometer, monitoring sub-station, industrial ring network, and monitoring host, the relative stress coefficient, spectral maximum frequency and geological structure prediction coefficient are calculated and analyzed in real time to realize the real-time monitoring and early warning of the geological structure of the tunnelling working site. Through cooperation between Chinese and Russian teams, an experimental study was conducted on the tunnelling working site of ventilation tunnel J15-15080 in the Eighth Coal Mine of Pingdingshan Tianan Coal Mining Co., Ltd. During the experiment, the tunnelling working site advanced continuously for 756 m, with seven faults being exposed.Results and ConclusionsThe experimental results demonstrate the high consistency between the anomaly areas of the monitoring indicator (i.e., the geologic structure prediction coefficient) of geologic structures and distribution of geologic structures in the mining face, with all geologic structures in the mining face identified within the anomaly areas of the monitoring indicator. At a certain distance in front of the exposed geologic structures, the geologic structure prediction coefficient inevitably increased and exceeded its critical value, which can be set at 7 to ensure 100% reliability for the monitoring and early warning of geologic structures. The advance warning distances were calculated at 6.5‒27.3 m based on the normal distance from the mining face to the fault strike and determined at 13.5‒44 m based on the heading direction of the mining face. The geologic structure prediction coefficients exhibited two distribution morphologies on both sides of a fault, i.e., single- and double-wing morphologies. The former refers to the case where the coefficients exceed the critical value in either the hanging wall or the footwall of the fault, while the latter denotes that the coefficients exceed the critical value in both the hanging wall and footwall of the fault. Based on the distribution of relative stress coefficients on a fault plane and the fault's hanging wall and footwall, the stress-strain zones near the fault can be categorized into zones with unilateral high stress, bilateral high stress, and overall high stress. The distances from high-stress zones to fault planes typically ranged from 3.2 to 28.0 m. The findings of this study will provide a new monitoring indicator and method for continuous online early warning in the advance detection of geologic structures in tunnelling working site.

ABSTRACT Objectives Understanding the patterns and implications of coexisting musculoskeletal conditions is crucial for developing effective management strategies and improving care for older adults. This study aimed to examine the associations between musculoskeletal multimorbidity burden and trajectory and holistic well‐being among middle‐aged and older adults. Methods This prospective study employed data from nine consecutive waves of the English Longitudinal Study of Aging (ELSA), spanning 2002–2018. We used latent class trajectory models (LCTM) to identify groups based on changes in musculoskeletal multimorbidity status. Subsequently, we employed linear mixed models to investigate the associations between musculoskeletal disease burden, trajectory groups, and seven dimensions of holistic well‐being: Activities of Daily Living (ADLs), Instrumental Activities of Daily Living (IADLs), depression, memory, loneliness, social interactions, and life satisfaction. Results In total, 5272 participants (mean age: 71.9 years; SD: 8.9) were included in the final analysis. Four distinct trajectories were identified: a low‐burden group (48.37%), an emerging group (14.76%), a moderate‐burden group (26.00%), and a persistent burden group (10.87%). After adjustment, the findings demonstrate that the musculoskeletal disorder burden significantly impacts ADLs, depression, memory, social interactions, and life satisfaction in middle‐aged and older adults, with minor effects on IADLs and loneliness. Moreover, with the escalation of the burden, its impact significantly intensifies (p for trend is

The phenomenon of coal and gas outburst, triggered by factors including mining-induced stress, manifests as coal seam rupture and rapid gas expulsion. Elucidating the changes in stress, pore pressure, and temperature during this process holds paramount importance for understanding the outburst mechanism and devising preventive measures. To investigate the role of mining-induced stress fluctuations in initiating coal and gas outburst, the abnormal coal support stress was focused on, observed in the Pingdingshan No.12 mine where the Wu and Ji coal seams overlap. Utilizing a multi-field coupling coal and rock dynamic disaster prevention and control technology simulation system, outburst experiments were conducted on coal specimens. Variations in pore pressure and temperature were tracked by these experiments, analyzing the impact of sustained dynamic loading on gas pressure and temperature during the outburst process. The experimental findings reveal that the continuous application of mining-induced stress leads to stress concentration, narrowing the surface area of coal pores and cracks, which in turn elevates the internal pore pressure within the coal, facilitating the flow and propagation of coal and gas, potentially precipitating premature coal and gas outburst. High-frequency dynamic loading accelerates the rise in pore pressure, ultimately triggering a gas outburst once the critical blasting pressure is attained, leading to a rapid depletion of gas pressure. Regarding temperature fluctuations, during the initial injection stage, several factors contribute to an elevation in coal's internal temperature, including enhanced intermolecular forces among gas molecules, the conversion of compressed gas work into heat energy, and the gradual release of gas. Subsequently, during the adsorption equilibrium phase, the internal gas pressure stabilizes, and the heat within the coal gradually dissipates into the surrounding environment, resulting in a modest temperature decrease. However, during the injection-induced outburst phase, dynamic loading and gas injection cause a surge in the internal temperature of the coal cavity. Finally, during the induced outburst phase, the abrupt release of gas leads to a significant temperature drop. Therefore, in devising the prevention and control measures for coal and gas outburst accidents in mining operations, the influence of mining-induced stress must be taken into account.

Abstract The growth of timber assortment is related to site conditions and forest management measures. To our knowledge, however, the effects and relative importance of these factors on the growth of different timber assortments of Chinese fir have not yet been explored. Based on data from long-term fixed observation plots in the northwest of the Chinese fir distribution zone, we examined the effects of planting density and the site index on the timber assortment structure of Chinese fir. Furthermore, we quantified the relative importance of stand factors (age, planting density, stand density index, number of living trees, Gini coefficient, and site index) in determining the growth of various timber assortments. The results showed that the wood yield of all timber assortment types increased as the site quality improved. The outturn and outturn rate of large- and medium-diameter timber were negatively correlated with the planting density. Before the age of 22, planting density had a negative impact on total timber yield and small-diameter timber outturn. After 22 years, planting density had a positive impact on total timber yield and small-diameter timber outturn. SDI (stand density index), age, and SD (stand density) were the most important factors influencing total timber yield and small-diameter timber. The relative importance of age to large-diameter timber was the greatest, followed by SI (site index) and SD. The effects of age, SD, SI, and PD (planting density) on the medium-diameter timber were greater than those of SDI and Gini coefficient. The results indicate small- and medium-diameter timber as the primary target timber assortment types to be cultivated in the study area, while large-diameter timber cannot be effectively produced under the current site conditions. Our findings provide valuable insights for the management of Chinese fir plantations and the directed cultivation of target timber assortments in the northwest of the Chinese fir distribution zone.

Abstract Sleep difficulties affect up to 98% of Parkinson’s disease (PD) patients and are often not well treated. How globus pallidus internus (GPi)-DBS could help is less understood. We retrospectively analyzed sleep outcomes in 32 PD patients after GPi-DBS with a two-year follow-up. We observed high heterogeneity in sleep response to pallidal stimulation: 16 patients showed clinically meaningful improvement, 9 had minor changes, and 7 experienced worsened sleep quality, with no overall significant change on the Parkinson’s Disease Sleep Scale-2 (P = 0.19). Further analysis revealed that stimulation of the left sensorimotor GPi was significantly associated with sleep improvement. Fiber tracts from the left sensorimotor GPi to the bilateral sensorimotor cortex, right GPi, brainstem, and bilateral cerebellum were linked to better sleep, while projections to the left hippocampus correlated with worsened sleep. These findings may guide personalized GPi-DBS lead placement to optimize sleep outcomes in PD.

Background Lumbar spondylolysis is a common cause of low back pain in adolescents. A lot of adolescent idiopathic scoliosis with concomitant spondylolysis has been reported before, but only two cases with acquired spondylolysis following long fusion for scoliosis were reported. We described another similar rare case and discussed its causes and treatment options in this paper. Case Presentation A 17‐year‐old female underwent growing rod implantation, growing rod extension, and final long spinal fusion for idiopathic scoliosis. Then, she suffered from low back pain with a VAS of 1‐2 points and gradually aggravated to a VAS of 7‐8 points at 3.5 years after the final fusion. The X‐ray images showed that there was L4‐S1 instability. And the CT scan images showed new bilateral spondylolysis of L5. Conclusions These findings suggested that distal mechanical stress might cause spondylolysis of the distal vertebra following long fusion for scoliosis. Surgeons should keep instrumentation as short as possible and avoid choosing a low lumbar as LIV when they decide on the fusion levels.

Abstract Phenotypes play a fundamental role in medical genetics, serving as external manifestations of underlying genotypes. Deep phenotyping, a cornerstone of precision medicine, involves precise multi-system phenotype assessments, facilitating disease subtyping and genetic understanding. Despite their significance, the field lacks standardized protocols for accurate phenotype evaluation, hindering clinical comprehension and research comparability. We present a comprehensive workflow of deep phenotyping for rare bone diseases from the Genetics Clinic of Skeletal Deformity at Peking Union Medical College Hospital. Our workflow integrates referral, informed consent, and detailed phenotype evaluation through HPO standards, capturing nuanced phenotypic characteristics using clinical examinations, questionnaires, and multimedia documentation. Genetic testing and counseling follow, based on deep phenotyping results, ensuring personalized interventions. Multidisciplinary team consultations facilitate comprehensive patient care and clinical guideline development. Regular follow-up visits emphasize dynamic phenotype reassessment, ensuring treatment strategies remain responsive to evolving patient needs. In conclusion, this study highlights the importance of deep phenotyping in rare bone diseases, offering a standardized framework for phenotype evaluation, genetic analysis, and multidisciplinary intervention. By enhancing clinical care and research outcomes, this approach contributes to the advancement of precision medicine in the field of medical genetics.

Abstract Background This study aims to evaluate the long-term outcomes of one-stage posterior hemivertebra resection and short segment fusion with pedicle screw fixation in children with thoracolumbar congenital early-onset scoliosis (TLCEOS). It specifically investigates the durability of spinal correction and the incidence of complications over an average follow-up of 8.97 years. Methods A retrospective review was conducted on 32 patients treated at a tertiary scoliosis referral center from April 2003 to December 2019. Inclusion criteria were thoracolumbar hemivertebra (T11-L1), treatment via posterior hemivertebra resection and short segment fusion (≤ 5 segments), age under 10 years at surgery, and a follow-up of at least 5 years. Exclusions included idiopathic, syndromic, or neuromuscular scoliosis. Data on demographics, surgical procedures, and radiographic outcomes were collected, and clinical outcomes were evaluated using the Scoliosis Research Society-22 (SRS-22) questionnaire. Statistical analysis was performed using SPSS and R software. Results The study included 32 patients (22 males, 10 females) with a mean age of 5.00 ± 2.42 years at surgery and an average follow-up of 8.97 ± 2.81 years. On average, 3.47 ± 1.11 segments were fused. The main curve corrected from 38.64° ± 14.12° preoperatively to 9.06° ± 7.29° postoperatively, with a final correction rate of 61%. Significant improvements were observed in the SRS-22 domains of Appearance and Satisfaction with Treatment. There were 17 complications, including neurological, pulmonary, and mechanical issues, with some cases requiring revision surgery. Conclusions One-stage posterior hemivertebra resection and short segment fusion with pedicle screw fixation effectively correct TLCEOS long-term, offering significant improvements in patient appearance and satisfaction, with a manageable complication profile.

Abstract Objectives The burden of pain in middle‐aged and older adults is considerable and significantly increases healthcare expenditures. We aimed to investigate the roles of handgrip strength (HGS) weakness and asymmetry in predicting pain across four nationally representative cohorts. Methods This longitudinal study utilized data from four major surveys: the Health and Retirement Study (HRS); the English Longitudinal Study of Ageing (ELSA); the Survey of Health, Ageing and Retirement in Europe (SHARE); and the China Health and Retirement Longitudinal Study (CHARLS). Multivariable cubic regression splines were employed to visually explore the nonlinear associations between HGS and pain in each cohort. The Cox proportional hazard model was applied to analyze the independent and combined relationship between HGS weakness and asymmetry and pain risk. Results We included 41,171 participants in the final analysis, with a mean follow‐up period of 4.68 ± 2.61 years (50.7% female, mean age 64.3 ± 9.3 years). No nonlinear relationship was found between HGS and pain incidence (nonlinear p 0.05 in CHARLS and HRS). After adjustment, the highest quartile groups had a significantly reduced risk of pain compared to the lowest quartile groups across all cohorts, with hazard ratios of 0.81 (0.74, 0.89) in CHARLS, 0.86 (0.77, 0.97) in HRS, 0.88 (0.77, 0.98) in ELSA, and 0.78 (0.73, 0.84) in SHARE. Participants with normal HGS had approximately 20% lower risk of pain compared to those with weak HGS. Each 5 kg increase in HGS was associated with decreased hazard ratios for pain: 0.95 (0.93, 0.97) in CHARLS, 0.97 (0.94, 0.99) in HRS, 0.96 (0.94, 0.99) in ELSA, and 0.94 (0.92, 0.95) in SHARE. The association between HGS asymmetry and pain risk was significant only in a few cohorts (HRS at 10%, 1.10 (1.03, 1.18); SHARE at 30%, 1.12 (1.05, 1.21)). No interaction effect between HGS weakness and asymmetry on pain risk was observed (all p‐values for interaction >0.05). Conclusions Our findings suggest that HGS can be used as an independent predictor of pain in middle‐aged and older European, American, and Chinese populations. However, our results do not support the use of HGS asymmetry as an independent predictor of pain risk. It is necessary to establish appropriate criteria for HGS asymmetry across different populations. The use of both weak HGS and asymmetry as predictors of health outcomes requires further validation in more diverse populations.

With an aim to comprehend the precise regulatory mechanism of dioscin against endometrial carcinoma (EC), we firstly extracted the components from Polygonatum sibiricum followed by identification and structural characterization. The anti-EC activity of dioscin was initially determined based on the inhibition of Ishikawa cell proliferation and tumor growth. The high-throughput sequencing data indicated that dioscin not only promoted apoptosis, including decrease of poly ADP-ribose polymerase (PARP) and B-cell lymphoma-2 (Bcl-2) and increase of c-PARP and Bcl-2-associcated agonist of cell death (Bad), but also induced autophagy, including increase of autophagic lysosomes and LC3Ⅱ/LC3Ⅰ ratio. Mechanistic exploration suggested that dioscin induced autophagy and apoptosis through inhibition of PI3K/AKT/mTOR signaling pathway. Besides, the dioscin-regulated p53 pathway was mainly involved in autophagy induction. Furthermore, inhibition of Ishikawa cell autophagy was linked to dioscin-induced apoptosis. Our data suggest the immense potential of dioscin for the development of functional food for EC and related medical application.

Objective Although the advantages of postoperative braces have been verified in many fields, it is not clear whether postoperative braces can help reduce patients' adverse psychological emotions such as kinesiophobia, anxiety, and depression. This study aims to analyze whether the use of a postoperative brace helps reduce adverse psychological emotions in adolescent idiopathic scoliosis (AIS) patients undergoing spinal deformity surgeries. Methods All consecutive patients who underwent spinal corrective surgeries at our institution between April 2023 and July 2023 formed the prospective cohort. Outcome measures were collected in the preoperative period, 3 months after surgery, and 6 months after surgery. All patients were assessed using the Tampa scale for kinesiophobia (TSK), the hospital anxiety and depression scale (HADS), and the numerical rating scale (NRS). A statistical model of propensity score matching was used to eliminate potential selection bias and maintain comparability. Multivariate linear regression models were used to determine the relationship between postoperative brace and adverse psychological emotions. Results After propensity score matching, this study ultimately enrolled 150 patients. There were no significant differences between the two groups in terms of demographic and perioperative variables. The fully adjusted model showed that the TSK scores of the non‐brace group at the 3‐month (ꞵ = 2.50, 95% CI 0.80–4.20, p = 0.005) and 6‐month follow‐up (ꞵ = 2.75, 95% CI 0.75–4.74, p = 0.007) were significantly higher than those of the brace group. The HADS score of the non‐brace group at the 3‐month follow‐up was significantly higher than that of the brace group (ꞵ = 1.75, 95% CI 0.28–3.22, p = 0.019). The NRS score of the non‐brace group at the 3‐month follow‐up was significantly higher than that of the brace group (ꞵ = 0.69, 95% CI 0.05–1.33, p = 0.034). At the 6‐month follow‐up, there were no significant difference for HADS score or NRS score between the two groups. Conclusion In the early postoperative period, the postoperative brace could provide AIS patients with psychological supports and help them reduce the frequency of adverse psychological emotions. The postoperative brace could continuously improve the fear of movement within 6 months after surgery, and help reduce anxiety, depression, and pain within 3 months after surgery.

Objective The orthopedic surgical treatment strategies for patients with tumor‐induced osteomalacia (TIO) require improvement, especially for patients where the causative tumors are located in surgically challenging areas, requiring a greater degree of in‐depth investigation. This work aims to summarize and investigate clinical features and orthopedic surgical treatment effects of patients with tumor‐induced osteomalacia (TIO), whose causative tumors are located in the hip bones. Methods A retrospective analysis was conducted on the clinical data of all patients diagnosed with culprit tumors located in the hip bones who underwent surgical treatment at the orthopedic bone and soft tissue tumor sub‐professional group of Peking Union Medical College Hospital from January 2013 to January 2023. This retrospective study summarized the clinical data, preoperative laboratory test results, imaging findings, surgery‐related data, perioperative changes in blood phosphorus levels, and postoperative follow‐up data of all patients who met the inclusion criteria. Normally distributed data are presented as mean and standard deviation, while non‐normally distributed data are shown as the means and 25th and 75th interquartile ranges. Results The clinical diagnostic criteria for TIO were met by all 16 patients, as confirmed by pathology after surgery. Among the 16 patients, we obtained varying degrees of bone pain and limited mobility (16/16), often accompanied by difficulties in sitting up, walking, and fatigue. An estimated 62.5% (10/16) of patients had significantly shorter heights during the disease stages. All 16 patients underwent surgical treatment for tumors in the hip bones, totaling 21 surgeries. In the pathogenic tumor, there were 16 cases of skeletal involvement and none of pure soft tissue involvement. Out of the 16 patients, 13 cases had a gradual increase in blood phosphorus levels following the latest orthopedic surgery, which was followed up for 12 months to 10 years. Due to unresolved conditions after the original surgery, four patients received reoperation intervention. Two cases of refractory TIO did not improve in their disease course. Conclusion In summary, the location of the causative tumor in the hip bone is hidden and diverse, and there is no defined orthopedic surgical intervention method for this case in clinical practice. For patients with TIO where the tumors are located in the hip bones, surgical treatment is difficult and the risk of postoperative recurrence is high. Careful identification of the tumor edge using precise preoperative positioning and qualitative diagnosis is crucial to ensure adequate boundaries for surgical resection to reduce the likelihood of disease recurrence and improve prognosis.

Abstract Objective The present study aimed to identify various distinguishing features for use in the accurate classification of stereoelectroencephalography (SEEG) channels based on high‐frequency oscillations (HFOs) inside and outside the epileptogenic zone (EZ). Methods HFOs were detected in patients with focal epilepsy who underwent SEEG. Subsequently, HFOs within the seizure‐onset and early spread zones were defined as pathological HFOs, whereas others were defined as physiological. Three features of HFOs were identified at the channel level, namely, morphological repetition, rhythmicity, and phase–amplitude coupling (PAC). A machine‐learning (ML) classifier was then built to distinguish two HFO types at the channel level by application of the above‐mentioned features, and the contributions were quantified. Further verification of the characteristics and classifier performance was performed in relation to various conscious states, imaging results, EZ location, and surgical outcomes. Results Thirty‐five patients were included in this study, from whom 166 104 pathological HFOs in 255 channels and 53 374 physiological HFOs in 282 channels were entered into the analysis pipeline. The results revealed that the morphological repetitions of pathological HFOs were markedly higher than those of the physiological HFOs; this was also observed for rhythmicity and PAC. The classifier exhibited high accuracy in differentiating between the two forms of HFOs, as indicated by an area under the curve (AUC) of 0.89. Both PAC and rhythmicity contributed significantly to this distinction. The subgroup analyses supported these findings. Significance The suggested HFO features can accurately distinguish between pathological and physiological channels substantially improving its usefulness in clinical localization. Plain Language Summary In this study, we computed three quantitative features associated with HFOs in each SEEG channel and then constructed a machine learning‐based classifier for the classification of pathological and physiological channels. The classifier performed well in distinguishing the two channel types under different levels of consciousness as well as in terms of imaging results, EZ location, and patient surgical outcomes.

Background: Cold damage of maize during germination is a global problem; it occurs frequently in northeast China, and leads to a large-scale reduction in yield. Low temperature tolerance of maize in germination is a complex quantitative trait controlled by multigenes, and no major QTLs or key genes have been identified. Results: An F2 isolation population with S319 and R144 as parents was constructed. The bulked segregant analysis (BSA) and specific-locus amplified fragment-sequencing (SLAF-seq) methods were applied to locate the chromosomal association regions related to low-temperature tolerance of maize during germination. Sequencing obtained 221.72 Gbp clean data, with an average sequencing depth of 25.96X. Four candidate regions associated with low-temperature tolerance trait of maize in germination were obtained, with a total length of 25.71 Mb and 1513 annotated genes, including 456 nonsynonymous mutant genes and 111 frameshift mutant genes. Conclusions: This study aimed to lay the foundation for the mining of candidate genes of low-temperature tolerance in maize during germination, and accelerate the process of targeted improvement of maize low-temperature tolerance molecular marker-assisted breeding.How to cite: Yu T, Zhang J, Cao J, et al. QTL analysis of low temperature tolerance in maize germination by SLAF-seq and BSA technique. Electron J Biotechnol 2024;70. https://doi.org/10.1016/j.ejbt.2024.04.003.

Abstract While numerous single nucleotide variants and small indels have been identified in Parkinson’s disease (PD), the contribution of structural variants (SVs), copy number variants (CNVs), and short tandem repeats (STRs) remains poorly understood. Here we investigated the association using the high-depth whole-genome sequencing data from 466 Chinese PD patients and 513 controls. Totally, we identified 29,561 SVs, 32,153 CNVs, and 174,905 STRs, and found that CNV deletions were significantly enriched in the end-proportion of autosomal chromosomes in PD. After genome-wide association analysis and replication in an external cohort of 352 cases and 547 controls, we validated that the 1.6 kb-deletion neighboring MUC19, 12.4kb-deletion near RXFP1 and GGGAAA repeats in SLC2A13 were significantly associated with PD. Moreover, the MUC19 deletion and the SLC2A13 5-copy repeat reduced the penetrance of the LRRK2 G2385R variant. Moreover, genes with these variants were dosage-sensitive. These data provided novel insights into the genetic architecture of PD.

Abstract Small extracellular vesicles (sEV) derived from diverse natural killer (NK) cell lines have proven their exceptional antitumor activities. However, sEV from human primary NK cells, especially memory-like NK cells, are rarely utilized for cancer treatment. In this study, we obtained sEV from IL-12, IL-15 and IL-18 cultured human memory-like NK cells (mNK-sEV) that showed strong cytokine-secretory ability. It was uncovered that mNK-sEV entered cancer cells via macropinocytosis and induced cell apoptosis via caspase-dependent pathway. Compared to sEV from conventionally cultured NK cells (conNK-sEV), mNK-sEV inhibited tumor growth to a greater extent. Concomitantly, pharmacokinetics and biodistribution results validated a higher accumulation of mNK-sEV than conNK-sEV in tumors of xenografted murine models. Notably, elevated containment of granulysin (GNLY) within mNK-sEV, at least in part, may contribute to the enhanced therapeutic effect. Herein our results present that mNK-sEV can be a novel class of therapeutic reagent for effective cancer treatment. Graphical Abstract

Background: This study investigated the subthalamic nucleus (STN) function and deep brain stimulation (DBS) effects on single-unit activity (SUA) in Parkinson's disease (PD) patients with dysarthria. Methods: After presurgical speech analysis, we recorded STN neuronal activities while PD patients (n = 16) articulated Chinese Pinyin consonants. The Pinyin consonants were categorized by the manner and place of articulation for SUA cluster analysis. The cohort was then divided into normal articulation and dysarthria groups based on diadochokinetic (DDK) assessments. The STN SUA patterns, represented by the mean firing rate (FR), peak time, and response intensity during articulation, were analyzed and compared between the two groups. Finally, a stimulation cohort of 7 PD patients was included to test articulation and SUA pattern changes following intraoperative DBS. Results: Clustering analysis of STN neuronal firing patterns demonstrated that neurons encode articulation by grouping consonants with the same manner of articulation into distinct clusters. Using k-means clustering, we further classified SUAs into two waveform types: negative spikes (type 1) and positive spikes (type 2). Dysarthria patients exhibited an increased mean FR of type 1 spikes and a reduced response intensity of type 2 spikes. During intraoperative stimulation, PD patients showed accelerated DDK, accompanied by a decrease in type 1 mean FR and an increase in type 2 mean FR. Conclusion: Our findings indicate the crucial role of the STN in consonant encoding and dysarthria at the single-unit level. Both SUA firing patterns in the STN and DDK performance can be modulated by DBS.

IntroductionThe basic helix-loop-helix (bHLH) transcription factor family is one of the largest gene families in plants, extensively involved in plant growth, organ development, and stress responses. However, limited studies of this family are available in sea buckthorn (Hippophae rhamnoides).MethodsIn this study, we identified 144 bHLH genes in H. rhamnoides (HrbHLH) through a genome-wide search method, then explored their DNA and protein sequences and physicochemical properties.Results and discussionAccording to the sequence similarities, we classified them into 15 groups with specific motif structures. To explore their expressions, we performed gene expression profiling using RNA-Seq and identified 122 HrbHLH mRNAs were highly expressed, while the remaining 22 HrbHLH genes were expressed at very low levels in all 21 samples. Among these HrbHLH genes, HrbHLH47, HrbHLH74, HrbHLH90, HrbHLH131 showed the highest expression level in the root nodule, root, leaf, stem and fruit tissues. Furthermore, eleven HrbHLH genes displayed increased expressions during the fruit development process of sea buckthorn. Finally, we validated the expression patterns of HrbHLH genes using reverse transcription quantitative real-time PCR (QPCR). This comprehensive analysis provides a useful esource that enables further investigation of the physiological roles and molecular functions of the HrbHLH TFs.

Abstract The development and aging of the brain constitute a lifelong dynamic process, marked by structural and functional changes that entail highly coordinated cellular differentiation and epigenetic regulatory mechanisms. Chromatin accessibility serves as the foundational basis for genetic activity. However, the holistic and dynamic chromatin landscape that spans various brain regions throughout development and ageing remains predominantly unexplored. In this study, we employed single-nucleus ATAC-seq to generate comprehensive chromatin accessibility maps, incorporating data from 69,178 cells obtained from four distinct brain regions – namely, the olfactory bulb (OB), cerebellum (CB), prefrontal cortex (PFC), and hippocampus (HP) – across key developmental time points at 7 P, 3 M, 12 M, and 18 M. We delineated the distribution of cell types across different age stages and brain regions, providing insight into chromatin accessible regions and key transcription factors specific to different cell types. Our data contribute to understanding the epigenetic basis of the formation of different brain regions, providing a dynamic landscape and comprehensive resource for revealing gene regulatory programs during brain development and aging.

Abstract Approximately 90% of Parkinson’s patients (PD) suffer from dysarthria. However, there is currently a lack of research on acoustic measurements and speech impairment patterns among Mandarin-speaking individuals with PD. This study aims to assess the diagnosis and disease monitoring possibility in Mandarin-speaking PD patients through the recommended speech paradigm for non-tonal languages, and to explore the anatomical and functional substrates. We examined total of 160 native Mandarin-speaking Chinese participants consisting of 80 PD patients, 40 healthy controls (HC), and 40 MRI controls. We screened the optimal acoustic metric combination for PD diagnosis. Finally, we used the objective metrics to predict the patient’s motor status using the Naïve Bayes model and analyzed the correlations between cortical thickness, subcortical volumes, functional connectivity, and network properties. Comprehensive acoustic screening based on prosodic, articulation, and phonation abnormalities allows differentiation between HC and PD with an area under the curve of 0.931. Patients with slowed reading exhibited atrophy of the fusiform gyrus (FDR p = 0.010, R = 0.391), reduced functional connectivity between the fusiform gyrus and motor cortex, and increased nodal local efficiency (NLE) and nodal efficiency (NE) in bilateral pallidum. Patients with prolonged pauses demonstrated atrophy in the left hippocampus, along with decreased NLE and NE. The acoustic assessment in Mandarin proves effective in diagnosis and disease monitoring for Mandarin-speaking PD patients, generalizing standardized acoustic guidelines beyond non-tonal languages. The speech impairment in Mandarin-speaking PD patients not only involves motor aspects of speech but also encompasses the cognitive processes underlying language generation.

Abstract In carbonate reservoirs characterized by the fracture‐cavity system as storage spaces, the drilling process is highly prone to the loss of drilling fluid. This not only affects drilling efficiency but can also lead to severe accidents, such as blowouts. Therefore, it is crucial to understand the distribution pattern of these fractures. However, the formation of carbonate rock fracture‐cavity system systems, being controlled by various factors, is difficult to precisely identify. This limitation hampers the efficient development of such types of oil and gas fields. This paper presents a case study of the M55 sub‐section carbonate gas reservoir in the Sulige gasfield, proposing an improved You Only Look Once v5s (YOLOv5s) deep learning algorithm. It utilizes enhanced training with conventional logging data to identify response characteristics of fractures in the carbonate reservoirs. And its identification results have been confirmed to be accurate by various fracture data obtained through different means, such as the core samples, cast thin section photographs, imaging logging data, and seismic attributes. This method incorporates the Ghost convolution module to replace the Conv module in the backbone network of the YOLOv5s model, and modifies the C3 module into a Ghost Bottleneck module, effectively making the model more lightweight. Additionally, a Convolutional Block Attention Module is integrated into the Neck network, enhancing the model's feature extraction capabilities. Finally, the method employs the Efficient Intersection over Union Loss function instead of the Complete Intersection over Union Loss, reducing the network's regression loss. The validation results using actual data demonstrate that this method achieves an average recognition accuracy of 87.3% for the fracture‐cavity system, which is a 3% improvement over the baseline model (YOLOv5s). This enhancement is beneficial for precisely locating the drilling fluid loss positions in carbonate reservoirs.

Olea dioica Roxb, 1820 is a very important ethnomedicinal tree because of its medicinal properties and it belongs to the Oleaceae family. It is mainly distributed in evergreen and semi-evergreen forests. However, the chloroplast genome of O. dioica has not yet been reported. In this study, the chloroplast genome sequence of O. dioica was sequenced using next-generation sequencing technologies. The complete chloroplast genome of O. dioica was 155,138 bp in length (GenBank accession no. PP048999), comprising a large single-copy (LSC) region of 86,048 bp, a small single-copy (SSC) region of 17,816 bp, and two inverted repeat (IR) regions 25,637 bp each. The overall GC content was 37.8%. The complete chloroplast genome of O. dioica contains 131 complete genes, which are 88 protein-coding genes, 35 transfer RNA genes, and eight ribosomal RNA genes. A maximum-likelihood (ML) tree of O. dioica and 14 other species in the family Oleaceae suggested that O. dioica showed a close relationship with Olea brachiata.

Abstract Background The role of isocitrate dehydrogenase (IDH) mutation status for glioma stratification and prognosis is established. While structural magnetic resonance image (MRI) is a promising biomarker, it may not be sufficient for non-invasive characterisation of IDH mutation status. We investigated the diagnostic value of combined diffusion tensor imaging (DTI) and structural MRI enhanced by a deep radiomics approach based on convolutional neural networks (CNNs) and support vector machine (SVM), to determine the IDH mutation status in Central Nervous System World Health Organization (CNS WHO) grade 2–4 gliomas. Methods This retrospective study analyzed the DTI-derived fractional anisotropy (FA) and mean diffusivity (MD) images and structural images including fluid attenuated inversion recovery (FLAIR), non-enhanced T1-, and T2-weighted images of 206 treatment-naïve gliomas, including 146 IDH mutant and 60 IDH-wildtype ones. The lesions were manually segmented by experienced neuroradiologists and the masks were applied to the FA and MD maps. Deep radiomics features were extracted from each subject by applying a pre-trained CNN and statistical description. An SVM classifier was applied to predict IDH status using imaging features in combination with demographic data. Results We comparatively assessed the CNN-SVM classifier performance in predicting IDH mutation status using standalone and combined structural and DTI-based imaging features. Combined imaging features surpassed stand-alone modalities for the prediction of IDH mutation status [area under the curve (AUC) = 0.846; sensitivity = 0.925; and specificity = 0.567]. Importantly, optimal model performance was noted following the addition of demographic data (patients’ age) to structural and DTI imaging features [area under the curve (AUC) = 0.847; sensitivity = 0.911; and specificity = 0.617]. Conclusions Imaging features derived from DTI-based FA and MD maps combined with structural MRI, have superior diagnostic value to that provided by standalone structural or DTI sequences. In combination with demographic information, this CNN-SVM model offers a further enhanced non-invasive prediction of IDH mutation status in gliomas.