European Journal of Medical Research最新文献

An 18-year-old Chinese woman presented with chief complaints of crowded teeth and mild mandibular prognathism. Clinical and imaging examinations revealed a concave profile, a protruded chin, increased lower anterior facial height mild, skeletal Class III and Angle's Class III malocclusion, with anterior crossbites, and crowded teeth. Extraction camouflaged therapy combined with miniscrews skeletal anchorage was employed to relieve crowding and retract the mandibular anterior teeth. The total active treatment time was 31 months. After treatment, functional occlusion and smile esthetics were significantly improved.

The identification of oncogenic gene fusions in diffuse gliomas may serve as potential therapeutic targets and prognostic indicators, representing a novel strategy for treating gliomas consistent with the principles of personalized medicine. This study identified detectable oncogene fusions in glioma patients through an integrated analysis of genomic and transcriptomic data, which encompassed whole exon sequencing and next-generation RNA sequencing. In addition, this study also conducted a comparison of the genetic characteristics, tumor microenvironment, mutation burden and survival between glioma patients with or without gene fusions. A total of 68 glioma patients were enrolled in this study, including glioblastoma (GBM), low grade glioma (LGG) and diffuse midline glioma (DMG). 14 cases of GBM patients (51.9%, 14/27) were found to harbor the following 70 oncogenic gene fusions: ROS1 (n = 8), NTRK (n = 5), KIF5 (n = 5), RET (n = 3) and other infrequent gene fusions (n = 49). A total of 11 gene fusions were identified in 8 LGG patients (32.0%, 8/25) and seven gene fusions were identified in one DMG patient (16.7%, 1/6). In GBM patient group, five genes including HOXA3, ACTB, CDK5, GNA12 and CARD11 exhibited a statistically significant higher copy number amplification frequency in the GBM group without gene fusions compared to that in the GBM group with gene fusions. In LGG patient group, CDK5 gene was also found to exhibit a statistically significant higher amplification frequency in the LGG group without gene fusions. In addition, KMT2D exhibited a statistically significant higher mutation frequency in the LGG group with gene fusions compared to that in the LGG group without gene fusions. Comparison of the other genetic characteristics including immune cell infiltration score, tumor mutation burden (TMB), and microsatellite instability (MSI). The results showed no statistically significant differences were observed between fusion and non-fusion group of GBM and LGG. The survival analysis revealed that GBM patients without gene fusions exhibited a longer median survival (737 days) compared to GBM patients with gene fusions (642 days), but without a statistical significancy. Our study has identified a set of gene fusions present in gliomas, including a number of novel gene fusions that have not been previously reported. We have also elucidated the underlying genetic characteristics of glioma with gene fusions. Collectively, our findings have the potential to inform future clinical treatment strategies for patients with glioma.

Background: Scarf osteotomy is a well-established procedure for hallux valgus, yet recurrence rates range from 3.6% to 10%. Pes planus, which often coexisting with hallux valgus, is a risk factor for recurrence. This study aimed to evaluate the effectiveness of simultaneous correction of hallux valgus and flexible pes planus.

Methods: A total of 85 feet with hallux valgus associated with adult flexible pes planus were retrospectively reviewed. All patients were treated with scarf osteotomy (SO). Subtalar arthroereisis using a HyProCure implant (SOH) was performed to correct hindfoot valgus based on shared decision-making. We collected and compared pre- and at least 2 year postoperative clinical outcomes (American Orthopaedic Foot & Ankle Society (AOFAS) forefoot, hindfoot score, Visual Analog Scale (VAS) pain intensity) and radiographic outcomes (hallux valgus angle (HVA), intermetatarsal angle (IMA), Meary's angle, talonavicular coverage angle (TNCA), and calcaneal pitch (CP) angle in both groups.

Results: Of the cases reviewed, 51 feet were allocated to SO group, and 34 feet were in SOH group. Recurrence frequency was 5 feet (9.8%) in the SO group, while no recurrences were reported in the SOH group. There was no significant difference in AOFAS forefoot and VAS scores between the groups, However, the SOH group demonstrated significant improvement in AOFAS hindfoot scores and CP angle, as well as a greater reduction in Meary's angle and TNCA, compared to the SO group. Changes in HVA and IMA did not differ significantly between the groups. Three feet in the SOH group experienced sinus tarsi pain, which resolved after removal of the HyProCure implant.

Conclusions: Subtalar arthroereisis with a HyProCure implant is an effective treatment option for adult flexible pes planus associated with scarf osteotomy for hallux valgus, leading to a steady improvement in the patients forefoot deformity and increased patient satisfaction at least 2 years postoperatively.

Purpose: This study evaluated and compared the clinical support capabilities of ChatGPT 4o and ChatGPT 4o mini in diagnosing and treating lumbar disc herniation (LDH) with radiculopathy.

Methods: Twenty-one questions (across 5 categories) from NASS Clinical Guidelines were input into ChatGPT 4o and ChatGPT 4o mini. Five orthopedic surgeons assessed their responses using a 5-point Likert scale for accuracy and completeness, and a 7-point scale for reliability. Flesch Reading Ease scores were calculated to assess readability. Additionally, ChatGPT 4o analyzed lumbar images from 53 patients, comparing its recognizable agreement with orthopedic surgeons using Kappa values.

Results: Both models demonstrated strong clinical support capabilities with no significant differences in accuracy or reliability. However, ChatGPT 4o provided more comprehensive and consistent responses. The Flesch Reading Ease scores for both models indicated that their generated content was "very difficult to read," potentially limiting patient accessibility. In evaluating lumbar disc herniation images, ChatGPT 4o achieved an overall accuracy of 0.81, with LDH recognition precision, recall, and F1 scores exceeding 0.80. The AUC was 0.80, and the Kappa value was 0.61, indicating moderate agreement between the model's predictions and actual diagnoses, though with room for improvement.

Conclusion: While both models are effective, ChatGPT 4o offers more comprehensive clinical responses, making it more suitable for high-integrity medical tasks. However, the difficulty in reading AI-generated content and occasional use of misleading terms, such as "tumor," indicate a need for further improvements to reduce patient anxiety.

Purpose: This study aims to investigate the influence of multifidus muscle fat infiltration on clinical outcomes in lumbar disc herniation (LDH) undergoing percutaneous endoscopic lumbar discectomy (PELD).

Methods: A retrospective analysis was conducted on 224 patients who underwent lateral PELD, with complete one-year follow-up data. Patients were divided into two groups based on preoperative MRI evaluation of L4 multifidus muscle fat infiltration: a mild group (< 25%) and a severe group (≥ 25%). Baseline characteristics and postoperative outcomes were recorded and compared.

Results: At the final follow-up, significant improvements in VAS scores for back and leg pain, ODI scores, and EQ-5D scores were observed in both groups. There were no statistically significant differences in preoperative VAS scores for back and leg pain, ODI scores, and EQ-5D scores between the two groups. However, significant differences were found in VAS scores for back pain, ODI scores, and EQ-5D scores at 3, 6, and 12 months postoperatively (P < 0.05), while no significant difference was noted in VAS scores for leg pain during follow-up. The total recurrence rate was 6.7% (15 out of 224 cases), with 12 cases in the severe group and 3 cases in the mild group, showing a statistically significant difference (P < 0.05).

Conclusion: The effectiveness of postoperative PELD in patients with LDH is impacted by severe multifidus muscle fat infiltration. Multifidus muscle fat infiltration represents a risk factor for recurrent LDH after PELD.

Background: The mechanism of palmitoylation in the pathogenesis of Alzheimer's disease (AD) remains unclear.

Methods: This study retrieved AD data sets from the GEO database to identify palmitoylation-associated genes (PRGs). This study applied WGCNA along with three machine learning algorithms-random forest, LASSO regression, and SVM-RFE-to further select key PRGs (KPRGs). The diagnostic performance of KPRGs was evaluated using Receiver Operating Characteristic (ROC) curve analysis. Immune cell infiltration analysis was conducted to assess correlations between KPRGs and immune cell types, and a competing endogenous RNA (ceRNA) regulatory network was constructed to explore their potential regulatory mechanisms.

Results: 17 PRGs were identified from the AD data sets, with 7 genes showing increased expression and 10 showing decreased expression. Through WGCNA and machine learning analyses, ZDHHC22 was selected as a KPRG. The ROC curve analysis demonstrated that ZDHHC22 had an area under the curve value of 0.659, indicating moderate diagnostic potential. Immune cell infiltration analysis revealed significant associations between ZDHHC22 expression and the infiltration of several immune cell types, including naïve B cells, CD8 + T cells, and M1 macrophages. In addition, 25 miRNAs and 55 lncRNAs were predicted to potentially target ZDHHC22, forming the basis for a lncRNA-miRNA-mRNA ceRNA network.

Conclusions: This study is the first to use bioinformatics methods to identify ZDHHC22 as a key KPRG in AD, highlighting its potential role in disease diagnosis and immune regulation. The regulatory network of ZDHHC22 provides new insights into the molecular mechanisms of AD and lays the foundation for future targeted therapeutic strategies.

Cholesterol metabolism is abnormally active in tumour cells. Metabolic enzymes related to cholesterol metabolism are upregulated in tumours, but their nonmetabolic functions remain unclear. We found that MVK (mevalonate kinase) is upregulated in lung adenocarcinoma tissues vs. normal tissues and that its expression can be induced by constitutively activated Kras. By investigating the molecular mechanisms involved, we discovered that MVK interacts with TBK1, inhibiting TBK1 phosphorylation and thereby suppressing cGAS-Sting signalling. In addition, we found a negative correlation between MVK expression and CD8⁺ T-cell infiltration via a public database analysis. In summary, our study demonstrates the importance of the nonmetabolic function of MVK in modifying the immunological milieu and provides new targets for lung adenocarcinoma therapy.

Background: This study aimed to explore the association between the stress hyperglycemia ratio (SHR) and short- and long-term outcomes in critically ill patients with sepsis.

Methods: This retrospective observational cohort study was conducted using the Medical Information Mart for Intensive Care-IV (MIMIC-IV v2.2) database. Patients were categorized into 4 SHR quartiles. The main focus was on in-hospital mortality and 1-year all-cause mortality as primary endpoints, while intensive care unit and hospital stays were considered as secondary outcomes. Regression and subgroup analyses were used to assess the correlation between SHR and the primary and secondary outcomes. Restricted cubic spline analysis was utilized to explore the nonlinear relationships between SHR and in-hospital and 1-year all-cause mortality.

Results: This study included two groups of patients, comprising 7456 and 6564 individuals. The in-hospital and 1-year mortality was 11.96% and 17.96% in Cohort 1 and 2, respectively. SHR was associated with an elevated risk of in-hospital mortality (OR: 2.08, 95%CI 1.66-2.61) and 1-year mortality (HR: 1.70, 95% CI 1.42-2.04). Patients in SHR quartile 4 had a higher risk of in-hospital (OR: 1.86, 95% CI 1.51-2.30) and 1-year (HR: 1.44, 95% CI 1.23-1.69) mortality than those in quartile 2. Restricted cubic spline analysis showed a "J-shaped" relationship between SHR and all-cause mortality in both cohorts. The relationship between high SHR and mortality remained consistent across almost all predefined subgroups.

Conclusions: Our study suggests that high SHR is associated with increased in-hospital and 1-year mortality in critically ill sepsis patients. Further investigations are needed to validate these results.

Background: The autophagy-lysosome is intricately linked to the development of gout. At present, the diagnosis and monitoring of gout are mainly invasive tests, which cannot predict the occurrence of gout in the acute phase, and bring new pain to patients. This study focuses on the changes of lysosome-related proteins in urinary exosomes of patients with acute gout attack to explore the potential noninvasive biomarkers clinical application value.

Methods: Urine samples were collected from the subject and exosomes were extracted. To explore the differentially expressed proteins in urinary exosomes among acute gout patients (AD group), intermittent gout patients (ID group) and normal controls (NC group) by DIA mass spectrometry. Urinary exosomal lysosome associated proteins were analyzed and receiver operating characteristic (ROC) curves of differentially expressed proteins were drawn to evaluate their clinical value in monitoring acute gout attack.

Results: A total of 1896 proteins were detected between AD group and ID group, of which 121 proteins were differentially expressed (FC > 1.5 and p < 0.05). There were three lysosomal-related proteins differentially expressed in urinary exosomes between AD group and ID group. Compared with the ID group, the expression of Cathepsin Z (CTSZ) and AP-1 complex subunit beta-1 (AP1B1) was increased, while the expression of Lysosome-associated membrane glycoprotein 2 (LAMP2) was decreased in AD group. The ROC analysis showed that CTSZ, AP1B1 and LAMP2 had a strong ability to predict acute gout attack, with AUC of 0.826, 0.847 and 0.882, respectively.

Conclusions: There are many specific protein changes in the urinary exosomes of patients with acute gout attack. The urinary exosomes of patients with acute gout attack may exhibit alterations in lysosome-related proteins, particularly CTSZ, AP1B1, and LAMP2, which may become potential biomarkers for monitoring acute gout attack.

Objectives: To evaluate the efficacy and safety of a non-invasive low-frequency tibial nerve stimulator (TNS-01) vs sham control in relieving the symptoms of overactive bladder (OAB) patients.

Patients: Participants who were diagnosed with primary OAB or exhibited at least one OAB symptom. All participants underwent three 30-min intervention sessions weekly.

Methods: The subjects were 1:1randomized (block randomization with a block size of 4) to either active treatment (TNS-01 group) or sham treatment (sham group). Based on the randomization, the subject will be given either an active or sham device system (systems will only differ in the Instructions for Use and electrode size/shape). During the 12-week study period, all participants underwent three 30-min intervention sessions weekly. The primary endpoint was the change in Overactive Bladder Symptom Score (OABSS) at week 12 from the baseline.

Results: Of the 109 recruited OAB patients. In the TNS-01 group, the OABSS change from baseline at week 12 was significantly higher than that in the sham group (2.83 ± 2.53 vs 1.62 ± 2.59, p = 0.02). The absolute and percent changes of average UUI episodes per day from baseline at week 8 in the TNS-01 group were significantly lower from those in the sham group (0.11 ± 1.33 vs 0.68 ± 2.14, p = 0.01; - 27.82% ± 167.33% vs 87.18% ± 25.20%, p = 0.04). One treatment-related adverse event (hematuria) was reported by one patient (1.8%) in the sham group.

Conclusions: The TNS-01 device is effective and safe in relieving OAB symptoms after 12 weeks of stimulation.

Trial registration number: NCT04999657.