OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

Objective To compare the quality of liquids dispensed by intelligent dispensing robot and traditional manual in PIVAS,to ensure the safety of clinical infusion.Methods Using omeprazole and ambroxol as the main drugs and 5％glucose injection and 0.9％sodium chloride solution as the solvent,a number of quality indexes including drug residues and the number of insoluble particles were evaluated in the two modes of manual and robotic dispensing,respectively.Results Under the robot dispensing mode and manual dispensing mode,the residual amount of drugs was less than 5％,the insoluble particles were far less than the limit,the pH value was in line with the human infusion range,and the endotoxin and aseptic culture were negative results,with no statistical significance(P＞0.05).Conclusions The quality of liquid dispensed under the robotic dispensing mode is guaranteed,and there is no significant difference in the quality of liquid dispensed with the traditional manual dispensing mode,which provides a reliable guarantee for the large-scale application of robotic dispensing in intravenous admixture service.

Background:To compare the efficacy and safety of monthly administrations of gonadotropin releasing hormone (GnRH) agonists LY01005 and Zoladex ? in Chinese patients with premenopausal breast cancer. Methods:From October 2020 to November 2021, 188 premenopausal breast cancer patients were enrolled in 34 hospitals and randomized 1:1 to receive either LY01005 or Zoladex ? every 28 days for a total of three injections. All patients concomitantly received oral tamoxifen (TAM). The primary efficacy endpoint was cumulative probability of maintaining menopausal level [oestradiol (E2) ≤30 pg/ml] from day 29 to day 85. The second efficacy endpoint included changes in E2, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) compared with the baseline. Pharmacokinetics (PK), pharmacodynamics (PD), and safety were analyzed. The study also evaluated the pharmacokinetic and pharmacodynamic characteristics of LY01005. Results:A total of 188 patients were randomised and 187 patients received either LY01005 or Zoladex ?. Cumulative probabilities of maintaining menopausal level (E2≤30 pg/ml) from day 29 to day 85 were 93.1% for LY01005 and 86.3% for Zoladex ?. The between-group difference was 6.8% (95% CI: -2.3%, 15.9%) and primary efficacy in the LY01005 group was not inferior to that in the Zoladex ? group. Changes in E2, LH, and FSH levels compared with the baseline were equivalent between the two groups (E2: 89.34% to 90.23% vs. 82.11% to 85.02%; LH: 88.89% to 95.52% vs. 89.70% to 97.02%; FSH: 75.36% to 80.85% vs.73.07% to 80.24%, respectively). After three consecutive doses of LY01005, the LH and FSH levels of the subjects showed a transient increase after the first dose, reached a peak on the second day and then started to decrease. The LH and FSH reached a lower level and remained at or below that level until the 85th day. Both treatments were well-tolerated. Conclusion:LY01005 is as effective as Zoladex ? in suppressing E2 to menopausal levels in Chinese patients with premenopausal breast cancer, with a similar safety profile.

In the diagnosis and treatment of orthopedic diseases, medical imaging plays a crucial role. However, as traditional imaging relies heavily on the personal experience and subjective judgment of clinicians, it may lead to diagnostic bias. In recent years, artificial intelligence (AI) technology has developed rapidly in the field of medical imaging, offering new opportunities for orthopedic surgeons to interpret imaging results. Deep learning, the essence of AI technology, can automatically extract characteristic images from vast amounts of X-ray films, CT scans, MRIs, and other imaging data, for intelligent analysis. This enables early diagnosis and accurate identification of diseases such as occult fractures, bone tumors, and degenerative lesions, significantly improving the rate and accuracy of disease detection. This article reviews the application of AI technology in X-ray film, CT plain scan and 3D reconstruction, MRI, and ultrasound 3D reconstruction in imaging examination based on the latest research progress. In addition, the potential values of AI technology in orthopedic imaging diagnosis and prediction are explored, and the "bottleneck" problems in AI technology are also analyzed in the diagnosis of orthopedic diseases.

Objective:To elucidate the molecular mechanisms through which high-dose dexamethasone exerts long-term effects on bone marrow mesenchymal stem cells (BMSCs), specifically its role in suppressing osteogenic differentiation, accelerating cellular senescence, triggering the senescence-associated secretory phenotype (SASP), and inducing apoptosis.Methods:Primary rat BMSCs were isolated and treated with high-dose dexamethasone (1×10 -4 mol/L) to establish the experimental group, while untreated cells served as the control. The gene and protein expression levels of osteogenic markers, bone alkaline phosphatase (bALP) and Runt-related transcription factor 2 (Runx2), were analyzed in both groups. Cellular senescence was evaluated using senescence-associated β-galactosidase (SA-β-gal) staining. The expression of senescence-related markers (P16 and P21), components of the senescence-associated secretory phenotype (SASP), including tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and interferon (IFN)-γ, as well as apoptosis-related proteins (Bcl-2, Bax, and Cleaved-Caspase-3), and key factors of the Nrf2/HO-1 signaling pathway were assessed at both transcriptional and protein levels using qRT-PCR, immunofluorescence, and Western-blot analyses. These comprehensive evaluations aimed to determine the senescent state, apoptotic features, and alterations in osteogenic differentiation of BMSCs. Results:Following treatment with dexamethasone and subsequent withdrawal, both qRT-PCR and Western blot analyses indicated a significant reduction in the expression of the osteogenic markers bALP and Runx2 at both mRNA and protein levels. The proportion of SA-β-gal positive cells was markedly higher in the dexamethasone group (74.33%±6.89%) than in the control group (20.30%±1.57%, t=17.300, P<0.001). qRT-PCR analysis revealed upregulated mRNA expression of the senescence-related genes P16 and P21 after dexamethasone treatment, which was further supported at the protein level by immunofluorescence showing increased P21 expression. Western-blot results confirmed that protein expression levels of P16 and P21 were significantly elevated in the dexamethasone group (7.025±0.255 and 6.362±0.456, respectively) compared with the control group (1.016±0.115 and 0.816±0.172; both P<0.05). Furthermore, gene expression levels of the senescence-associated secretory phenotype (SASP) factors TNF-α and IL-1β were significantly increased (TNF-α: 3.539±0.599 vs. 0.742±0.095; IL-1β: 4.469±0.331 vs. 0.799±0.175; both P<0.05), and their protein expression was consistently upregulated as validated by Western-blot. Additionally, protein expression levels of TNF-α, IL-1β, and IFN-γ were significantly higher in the dexamethasone-treated group (3.476±0.932 vs. 0.945±0.095; 4.111±0.220 vs. 0.762±0.105; 2.155±0.240 vs. 0.656±0.104; all P<0.05).Western-blot analysis also demonstrated that protein expression of Nrf2 and HO-1 was significantly suppressed in the dexamethasone group (0.21±0.07 and 0.19±0.06, respectively) compared with the control group (1.13±0.15 and 0.92±0.21; P<0.05). Moreover, Western-blot analysis revealed that the expression levels of the pro-apoptotic proteins Bax and Cleaved-Caspase-3 were significantly up, regulated in the dexamethasone, treated BMSCs (Bax: 3.673±0.397 vs. 0.453±0.111; Cleaved-Caspase-3: 3.863±0.399 vs. 0.465±0.057), while the expression of the anti-apoptotic protein Bcl-2 was markedly down, regulated (0.959±0.073 vs. 2.126±0.195), with all differences being statistically significant ( P<0.05). Conclusions:High-dose dexamethasone treatment of BMSCs, followed by withdrawal of dexamethasone, induces cellular senescence and enhances the expression of the senescence-associated secretory phenotype (SASP) through suppression of the Nrf2/HO-1 signaling pathway. Concurrently, it promotes apoptosis by activating the mitochondrial apoptotic pathway, collectively leading to impaired osteogenic differentiation of BMSCs.

Objective To explore the efficacy of precise surface positioning method in percutaneous screw fixation for Jones fracture.Methods Data of 46 patients with Jones fractures admitted to our hospital from September 2021 to December 2023 were retrospectively analyzed.According to the different treatment methods,the patients were divided into screw groups(24 patients fixed by percutaneous screws)and tension band groups(22 patients fixed by incision and reset tension band).The general conditions,follow-up time,surgical time,hospitalization time,fracture reduction quality,postoperative complete weight-bearing time,fracture healing time,and complications in the two groups were recorded and compared.The American Association of Foot and Ankle Surgery(AOFAS)system was used to assess the recovery of foot function.Results There was no statistically significant difference in the general data before the operation between the two groups of patients(P＞0.05).The follow-up time of the two groups was 6 to 24 months.Compared with the tension band group,the screw group had shorter operation time[(32.96±5.35)min vs.(47.27±9.42)min],shorter hospitalization time[(5.75±1.18)d vs.(7.68±2.05)d],earlier postoperative complete weight-bearing time[(6.47±0.73)w vs.(7.29±1.66)w],faster fracture healing time[(3.31±0.68)months vs.(4.29±1.29)months],higher AOFAS score[(89.13±2.62)vs.(79.59±4.49)](all P＜0.05).The tension band group of fracture reduction quality was better than the screw group(P＜0.05).The quality of fracture reduction during the operation in the tension band group was better than that in the screw group(P＜0.05).In terms of complications:no complications occurred in the screw group,one patient in the tension band group developed infection,and one patient had a loose Kirchner needle.Conclusion Precise surface positioning method in percutaneous screw fixation for Jones fracture is a safe and effective method with precise positioning,simple operation,small trauma,and rapid rehabilitation,which is worthy of clinical promotion,but the indications need to be strictly controlled according to the type of fracture.

Objective:To elucidate the molecular mechanisms through which high-dose dexamethasone exerts long-term effects on bone marrow mesenchymal stem cells (BMSCs), specifically its role in suppressing osteogenic differentiation, accelerating cellular senescence, triggering the senescence-associated secretory phenotype (SASP), and inducing apoptosis.Methods:Primary rat BMSCs were isolated and treated with high-dose dexamethasone (1×10 -4 mol/L) to establish the experimental group, while untreated cells served as the control. The gene and protein expression levels of osteogenic markers, bone alkaline phosphatase (bALP) and Runt-related transcription factor 2 (Runx2), were analyzed in both groups. Cellular senescence was evaluated using senescence-associated β-galactosidase (SA-β-gal) staining. The expression of senescence-related markers (P16 and P21), components of the senescence-associated secretory phenotype (SASP), including tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and interferon (IFN)-γ, as well as apoptosis-related proteins (Bcl-2, Bax, and Cleaved-Caspase-3), and key factors of the Nrf2/HO-1 signaling pathway were assessed at both transcriptional and protein levels using qRT-PCR, immunofluorescence, and Western-blot analyses. These comprehensive evaluations aimed to determine the senescent state, apoptotic features, and alterations in osteogenic differentiation of BMSCs. Results:Following treatment with dexamethasone and subsequent withdrawal, both qRT-PCR and Western blot analyses indicated a significant reduction in the expression of the osteogenic markers bALP and Runx2 at both mRNA and protein levels. The proportion of SA-β-gal positive cells was markedly higher in the dexamethasone group (74.33%±6.89%) than in the control group (20.30%±1.57%, t=17.300, P<0.001). qRT-PCR analysis revealed upregulated mRNA expression of the senescence-related genes P16 and P21 after dexamethasone treatment, which was further supported at the protein level by immunofluorescence showing increased P21 expression. Western-blot results confirmed that protein expression levels of P16 and P21 were significantly elevated in the dexamethasone group (7.025±0.255 and 6.362±0.456, respectively) compared with the control group (1.016±0.115 and 0.816±0.172; both P<0.05). Furthermore, gene expression levels of the senescence-associated secretory phenotype (SASP) factors TNF-α and IL-1β were significantly increased (TNF-α: 3.539±0.599 vs. 0.742±0.095; IL-1β: 4.469±0.331 vs. 0.799±0.175; both P<0.05), and their protein expression was consistently upregulated as validated by Western-blot. Additionally, protein expression levels of TNF-α, IL-1β, and IFN-γ were significantly higher in the dexamethasone-treated group (3.476±0.932 vs. 0.945±0.095; 4.111±0.220 vs. 0.762±0.105; 2.155±0.240 vs. 0.656±0.104; all P<0.05).Western-blot analysis also demonstrated that protein expression of Nrf2 and HO-1 was significantly suppressed in the dexamethasone group (0.21±0.07 and 0.19±0.06, respectively) compared with the control group (1.13±0.15 and 0.92±0.21; P<0.05). Moreover, Western-blot analysis revealed that the expression levels of the pro-apoptotic proteins Bax and Cleaved-Caspase-3 were significantly up, regulated in the dexamethasone, treated BMSCs (Bax: 3.673±0.397 vs. 0.453±0.111; Cleaved-Caspase-3: 3.863±0.399 vs. 0.465±0.057), while the expression of the anti-apoptotic protein Bcl-2 was markedly down, regulated (0.959±0.073 vs. 2.126±0.195), with all differences being statistically significant ( P<0.05). Conclusions:High-dose dexamethasone treatment of BMSCs, followed by withdrawal of dexamethasone, induces cellular senescence and enhances the expression of the senescence-associated secretory phenotype (SASP) through suppression of the Nrf2/HO-1 signaling pathway. Concurrently, it promotes apoptosis by activating the mitochondrial apoptotic pathway, collectively leading to impaired osteogenic differentiation of BMSCs.

Objective To explore the efficacy of precise surface positioning method in percutaneous screw fixation for Jones fracture.Methods Data of 46 patients with Jones fractures admitted to our hospital from September 2021 to December 2023 were retrospectively analyzed.According to the different treatment methods,the patients were divided into screw groups(24 patients fixed by percutaneous screws)and tension band groups(22 patients fixed by incision and reset tension band).The general conditions,follow-up time,surgical time,hospitalization time,fracture reduction quality,postoperative complete weight-bearing time,fracture healing time,and complications in the two groups were recorded and compared.The American Association of Foot and Ankle Surgery(AOFAS)system was used to assess the recovery of foot function.Results There was no statistically significant difference in the general data before the operation between the two groups of patients(P＞0.05).The follow-up time of the two groups was 6 to 24 months.Compared with the tension band group,the screw group had shorter operation time[(32.96±5.35)min vs.(47.27±9.42)min],shorter hospitalization time[(5.75±1.18)d vs.(7.68±2.05)d],earlier postoperative complete weight-bearing time[(6.47±0.73)w vs.(7.29±1.66)w],faster fracture healing time[(3.31±0.68)months vs.(4.29±1.29)months],higher AOFAS score[(89.13±2.62)vs.(79.59±4.49)](all P＜0.05).The tension band group of fracture reduction quality was better than the screw group(P＜0.05).The quality of fracture reduction during the operation in the tension band group was better than that in the screw group(P＜0.05).In terms of complications:no complications occurred in the screw group,one patient in the tension band group developed infection,and one patient had a loose Kirchner needle.Conclusion Precise surface positioning method in percutaneous screw fixation for Jones fracture is a safe and effective method with precise positioning,simple operation,small trauma,and rapid rehabilitation,which is worthy of clinical promotion,but the indications need to be strictly controlled according to the type of fracture.

Objective To compare the quality of liquids dispensed by intelligent dispensing robot and traditional manual in PIVAS,to ensure the safety of clinical infusion.Methods Using omeprazole and ambroxol as the main drugs and 5％glucose injection and 0.9％sodium chloride solution as the solvent,a number of quality indexes including drug residues and the number of insoluble particles were evaluated in the two modes of manual and robotic dispensing,respectively.Results Under the robot dispensing mode and manual dispensing mode,the residual amount of drugs was less than 5％,the insoluble particles were far less than the limit,the pH value was in line with the human infusion range,and the endotoxin and aseptic culture were negative results,with no statistical significance(P＞0.05).Conclusions The quality of liquid dispensed under the robotic dispensing mode is guaranteed,and there is no significant difference in the quality of liquid dispensed with the traditional manual dispensing mode,which provides a reliable guarantee for the large-scale application of robotic dispensing in intravenous admixture service.

In the diagnosis and treatment of orthopedic diseases, medical imaging plays a crucial role. However, as traditional imaging relies heavily on the personal experience and subjective judgment of clinicians, it may lead to diagnostic bias. In recent years, artificial intelligence (AI) technology has developed rapidly in the field of medical imaging, offering new opportunities for orthopedic surgeons to interpret imaging results. Deep learning, the essence of AI technology, can automatically extract characteristic images from vast amounts of X-ray films, CT scans, MRIs, and other imaging data, for intelligent analysis. This enables early diagnosis and accurate identification of diseases such as occult fractures, bone tumors, and degenerative lesions, significantly improving the rate and accuracy of disease detection. This article reviews the application of AI technology in X-ray film, CT plain scan and 3D reconstruction, MRI, and ultrasound 3D reconstruction in imaging examination based on the latest research progress. In addition, the potential values of AI technology in orthopedic imaging diagnosis and prediction are explored, and the "bottleneck" problems in AI technology are also analyzed in the diagnosis of orthopedic diseases.