1.Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome.
Hui HU ; Shengnan WU ; Kai CHEN ; Jingbo SHAO ; Ting ZHANG ; Yongmei XIAO
Chinese Journal of Medical Genetics 2026;43(2):123-128
OBJECTIVE:
To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency.
METHODS:
This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01).
RESULTS:
Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%.
CONCLUSION
For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans
;
Male
;
X-Linked Inhibitor of Apoptosis Protein/deficiency*
;
Child
;
Genetic Diseases, X-Linked/therapy*
;
Phenotype
;
Siblings
;
Retrospective Studies
;
Hematopoietic Stem Cell Transplantation
2.Huanglian Jiedutang Against Acute Ischemic Stroke: A Review
Liyang DONG ; Qinyuan ZHANG ; Yiping WU ; Yingping HE ; Wei SHAO ; Haojia ZHANG ; Xueqian WANG ; Changxiang LI ; Youxiang CUI ; Fafeng CHENG ; Qingguo WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):77-86
Huanglian Jiedutang (HLJDT), as a classical formula for clearing heat and removing toxins, has been widely applied in the treatment of various clinical diseases in recent years, particularly during the fire-heat stage of stroke, where it has attracted considerable attention. Based on previous studies, this paper systematically elaborates on the research progress on the active components of HLJDT, its clinical application in ischemic stroke, and advances in studies on its mechanisms of action. Modern pharmacological studies have demonstrated that HLJDT contains multiple active components, including baicalin, geniposide, and berberine. In the treatment of ischemic stroke, these components exert therapeutic effects through multi-target, multi-pathway, and multi-level mechanisms. Clinical studies have shown that HLJDT can increase cerebral blood flow, reduce cerebral infarct volume, and improve post-stroke physical dysfunction in patients with ischemic stroke. Experimental studies have indicated that HLJDT can improve neurological function scores and increase cerebral perfusion in experimental stroke models. In addition, the mechanisms underlying the anti-ischemic stroke effects of HLJDT may be related to anti-inflammatory and antioxidant activities, promotion of angiogenesis, and regulation of amino acid and energy metabolism. Although existing studies have confirmed that HLJDT exhibits multi-target and multi-pathway synergistic therapeutic characteristics, further large-sample randomized controlled trials are still needed to verify its long-term efficacy and to further elucidate the dynamic interaction network among components, targets, and pathways. Combined with network pharmacology and molecular docking analyses, this study further clarifies the synergistic targets of the core components (berberine, baicalin, and geniposide), providing a theoretical basis for in-depth research and clinical translation of HLJDT in the treatment of ischemic stroke.
3.m6ATEpre: Predicting YTHDF1-mediated mRNA Translation Efficiency Regulated by m6A Sites via Multi-omics Data Integration
Teng ZHANG ; Ming ZHANG ; Shao-Wu ZHANG ; Lian LIU
Progress in Biochemistry and Biophysics 2026;53(4):1087-1102
ObjectiveThe most prevalent mRNA modification, N6-methyladenosine (m6A) plays an important role in various RNA metabolism, including gene expression and translation. By recruiting different “reader” proteins and their cofactors, m6A modification can affect messenger RNA (mRNA) degradation, splicing, nuclear export and translation. However, the selective mechanism by which m6A sites regulate mRNA translation through m6A reader YTHDF1 binding remains poorly understood, due to a lack of computational methods for identifying context-specific m6A sites that regulate translation. To address this, we developed a novel computational framework named m6ATEpre, the first tool designed to predict cell-specific m6A sites that regulate translation efficiency. Methodsm6ATEpre integrates multi-omics data, introduces a novel feature representation strategy for m6A site sequences, and employs an autoencoder to effectively capture embedded feature representations. Specifically, m6ATEpre first integrated MeRIP-seq data and PAR-CLIP data through overlapping m6A sites with YTHDF1 binding sites and identified YTHDF1-mediated m6A sites. Then, m6ATEpre detected the translation gene by analyzing the Ribo-seq data under YTHDF1 knockdown vs control condition. Genes whose translation is mediated by YTHDF1 in an m6A-dependent manner were identified by a significant decrease in translation efficiency upon YTHDF1 knockdown. Next, we proposed a binary vector indicating the presence or absence of YTHDF1 binding motifs to characterize each m6A site sequence. This represents a novel feature representation strategy for m6A sites. m6ATEpre utilized the autoencoder to extract the potentially important feature representations and constructed a multilayer perceptron neural networks model to predict potential m6A sites that regulating translation efficiency. ResultsA comprehensive evaluation of m6ATEpre was conducted through a series of experiments. We compared its performance against that of a similar prediction task model, as well as other classifiers. The results indicate that m6ATEpre achieved the best prediction performance. In addition, we analyzed different feature representation strategies and performed ablation experiments to validate the rationality of the model design. The results demonstrate that our proposed feature representation strategy has a greater advantage in improving prediction performance. In the HeLa cell line, bioinformatic analysis of the metagene distribution and sequence minimum free energy of m6A sites regulating translation efficiency (m6A-reg-TE sites) revealed their specific properties in translation regulation. Functional enrichment analysis indicated that m6A-reg-TE genes are associated with specific biological processes and KEGG pathways. By integrating the binding sites of YTHDF1 co-factors with m6A-reg-TE sites, we revealed that YTHDF1-mediated and m6A-dependent translation efficiency regulation requires the cooperation of multiple translation-regulatory RNA-binding proteins among its co-factors in the HeLa cell line. Furthermore, we extended our predictions to the dataset of the HEK293T cell line. Similarly, bioinformatic analysis of the metagene distribution and functional enrichment revealed the cell-specific characteristic of these predicted m6A-reg-TE sites in HEK293T cells. Likewise, integrated analysis of multiple YTHDF1 co-factors and m6A-reg-TE sites predicted in the HEK293T cell line reveals their m6A-dependent cooperation in regulating translation efficiency. Conclusionm6ATEpre is a timely tool that will advance our understanding of the mechanisms of m6A regulation in translation efficiency. The source code and datasets used in this work can be downloaded from
4.Clinical Efficacy and Radiographic Outcomes of Manipulative Reduction Combined with Small Splint Fixation for Distal Radius Fractures:A Retrospective Multicenter Study with Propensity Score Matching
Mao WU ; Guoda DAI ; Yang SHAO ; Shaoshuo LI ; Zhen HUA ; Hengyan CUI ; Tingchen ZHU ; Dipeng LI ; Jintao LIU ; Ming ZHOU ; Peimin WANG ; Liyong ZHANG ; Jianwei WANG
Journal of Traditional Chinese Medicine 2026;67(10):1086-1092
ObjectiveTo observe the clinical efficacy and radiographic outcomes of manipulative reduction combined with small splint fixation in the treatment of distal radius fractures. MethodsThe clinical data of 1051 patients with distal radius fractures were retrospectively collected from five hospitals included in the Jiangsu Diagnosis and Treatment Data Platform for Traditional Chinese Medicine(TCM) Dominant Diseases. Propensity score matching at a 1∶4 ratio was applied, resulting in 580 cases selected for final analysis, which comprised 448 patients in the TCM group(manipulative reduction plus small splint fixation) and 132 in the surgical treatment group(open reduction and internal fixation). Each group was further stratified into type A, B, and C subgroups based on AO fracture classification. Radiographic indicators including palmar tilt, radial inclination, and radial height were compared between groups before treatment and 1 day, 1 week, and 4-6 weeks after treatment, and pain visual analog scale(VAS) scores before treatment and 1 week and 4-6 weeks after treatment were also compared. Wrist joint function was assessed 12 weeks after treatment, using the Dienst wrist function score and the Gartland and Werley(G-W) wrist function score. Additionally, the radiographic indicators at different timepoints and the 12-week wrist function levels were compared between groups across different fracture types. ResultsNo statistically significant difference was observed in radiographic indicators and VAS scores at all timepoints before and after treatment, as well as wrist joint function grades assessed by the Dienst score and the G-W score at 12 weeks after treatment (P>0.05). Compared to those before treatment, both groups showed increased palmar tilt, radial inclination, and radial height 1 week and 4-6 weeks after treatment, and decreased VAS scores (P<0.05). Compared to those 1 week after treatment, both groups showed a decrease in palmar tilt, an increase in radial inclination and radial height, and a reduction in VAS score 4-6 weeks after treatment(P<0.05). In type A and B subgroups, the surgical treatment group had a higher radial inclination than the TCM group 4-6 weeks after treatment, while in the type C subgroup, a higher radial height was shown in the surgical treatment group than in the TCM group 4-6 weeks after treatment(P<0.05). In type C subgroup, there was significant difference between groups in the wrist joint function by G-W scores 12 weeks after treatment(P<0.05). ConclusionManipulative reduction combined with small splint fixation can maintain fracture alignment and alleviate pain in treating distal radius fractures, which achieves therapeutic outcomes comparable to surgical treatment. It is particularly suitable for type A and B fractures and can be considered an effective treatment option for distal radius fractures.
5.Advancements in Gas-releasing Micro/Nanoplatforms for Overcoming MDR Bacterial Infections in Diabetic Wounds
Ruo-Can LIU ; Yu-Qian WANG ; Shuai ZHANG ; Shao-Zhi ZUO ; Yun-Di WU ; Xi-Long WU
Progress in Biochemistry and Biophysics 2026;53(5):1356-1375
Chronic diabetic wounds, severely complicated by multidrug-resistant (MDR) bacterial infections, represent a profound and escalating global health crisis. The intrinsically hostile microenvironment of diabetic wounds, characterized by localized hypoxia, persistent oxidative stress, and poor vascularization, creates an ideal niche for opportunistic pathogens such as Staphylococcus aureus and Pseudomonas aeruginosa. These bacteria readily construct dense extracellular polymeric substance (EPS) biofilms, which not only physically shield the microbes from host immune responses but also actively trap the wound in a state of chronic, unresolved inflammation. Consequently, conventional systemic and topical antibiotic therapies are becoming increasingly futile, as poor perfusion at the wound site restricts drug bioavailability, while the rapid genetic evolution of bacteria and the impenetrable nature of biofilms lead to catastrophic treatment failures, often culminating in severe tissue necrosis and lower-extremity amputations. To circumvent the limitations of traditional antimicrobials, therapeutic gas delivery has emerged as a highly promising, paradigm-shifting strategy. Gaseous signaling molecules, particularly nitric oxide (NO), carbon monoxide (CO), hydrogen sulfide (H2S), and hydrogen (H2), possess unique physicochemical properties that allow them to seamlessly penetrate dense biofilm matrices and cellular membranes. Once inside, these gases operate via multi-targeted mechanisms that are incredibly difficult for bacteria to develop resistance against; for instance, NO induces severe lipid peroxidation and DNA cleavage in bacteria, CO downregulates pro-inflammatory cytokines, H2S significantly accelerates endothelial cell migration for neovascularization, and H2 acts as a powerful selective antioxidant to neutralize tissue-damaging reactive oxygen species (ROS). Together, these therapeutic gases not only exert broad-spectrum bactericidal effects but also actively reprogram the wound bed by promoting the critical M1-to-M2 macrophage polarization and stimulating angiogenesis. Despite their immense biological potential, the direct clinical translation of gas therapies is severely hindered by inherent physicochemical drawbacks, including extreme volatility, short physiological half-lives, poor aqueous solubility, and the high risk of off-target systemic toxicity, if applied indiscriminately. To conquer these immense pharmacokinetic barriers, cutting-edge advancements in materials science have driven the development of gas-releasing micro- and nanoplatforms. Utilizing sophisticated carriers such as metal-organic frameworks (MOFs), mesoporous silica, polymeric nanoparticles, liposomes, and injectable hydrogels, researchers can now encapsulate gas-donor molecules to achieve sustained, localized delivery. More importantly, these advanced nanoplatforms are ingeniously engineered to be stimuli-responsive. By exploiting the pathological hallmarks of the diabetic wound environment, such as elevated glucose concentrations, acidic pH, and overexpressed ROS, or by utilizing external triggers like near-infrared (NIR) light irradiation and ultrasound, these intelligent platforms ensure on-demand, precise spatio-temporal gas release. This often allows for powerful synergistic combinations, such as photothermal or photodynamic therapy coupled with gas release, thereby obliterating biofilms while sparing healthy tissue. While the therapeutic outcomes of these smart delivery systems in eradicating MDR infections and accelerating tissue repair are unprecedented, several critical challenges remain before widespread clinical adoption, as long-term biosafety profiles of the carrier nanomaterials, complexities in large-scale good manufacturing practice (GMP) production, and stringent regulatory hurdles must be rigorously addressed. Looking forward, the next frontier lies in the realm of precision medicine and theranostics, where future research must focus on the seamless integration of these gas-releasing platforms with flexible, wearable biosensors capable of continuously monitoring wound biomarkers (e.g., pH, temperature, uric acid) in real-time. Coupled with artificial intelligence algorithms to govern automated, closed-loop adaptive dosing, these next-generation smart dressings hold the ultimate potential to comprehensively transform the clinical management of complex, infected diabetic wounds.
6.Advancements in Gas-releasing Micro/Nanoplatforms for Overcoming MDR Bacterial Infections in Diabetic Wounds
Ruo-Can LIU ; Yu-Qian WANG ; Shuai ZHANG ; Shao-Zhi ZUO ; Yun-Di WU ; Xi-Long WU
Progress in Biochemistry and Biophysics 2026;53(5):1356-1375
Chronic diabetic wounds, severely complicated by multidrug-resistant (MDR) bacterial infections, represent a profound and escalating global health crisis. The intrinsically hostile microenvironment of diabetic wounds, characterized by localized hypoxia, persistent oxidative stress, and poor vascularization, creates an ideal niche for opportunistic pathogens such as Staphylococcus aureus and Pseudomonas aeruginosa. These bacteria readily construct dense extracellular polymeric substance (EPS) biofilms, which not only physically shield the microbes from host immune responses but also actively trap the wound in a state of chronic, unresolved inflammation. Consequently, conventional systemic and topical antibiotic therapies are becoming increasingly futile, as poor perfusion at the wound site restricts drug bioavailability, while the rapid genetic evolution of bacteria and the impenetrable nature of biofilms lead to catastrophic treatment failures, often culminating in severe tissue necrosis and lower-extremity amputations. To circumvent the limitations of traditional antimicrobials, therapeutic gas delivery has emerged as a highly promising, paradigm-shifting strategy. Gaseous signaling molecules, particularly nitric oxide (NO), carbon monoxide (CO), hydrogen sulfide (H2S), and hydrogen (H2), possess unique physicochemical properties that allow them to seamlessly penetrate dense biofilm matrices and cellular membranes. Once inside, these gases operate via multi-targeted mechanisms that are incredibly difficult for bacteria to develop resistance against; for instance, NO induces severe lipid peroxidation and DNA cleavage in bacteria, CO downregulates pro-inflammatory cytokines, H2S significantly accelerates endothelial cell migration for neovascularization, and H2 acts as a powerful selective antioxidant to neutralize tissue-damaging reactive oxygen species (ROS). Together, these therapeutic gases not only exert broad-spectrum bactericidal effects but also actively reprogram the wound bed by promoting the critical M1-to-M2 macrophage polarization and stimulating angiogenesis. Despite their immense biological potential, the direct clinical translation of gas therapies is severely hindered by inherent physicochemical drawbacks, including extreme volatility, short physiological half-lives, poor aqueous solubility, and the high risk of off-target systemic toxicity, if applied indiscriminately. To conquer these immense pharmacokinetic barriers, cutting-edge advancements in materials science have driven the development of gas-releasing micro- and nanoplatforms. Utilizing sophisticated carriers such as metal-organic frameworks (MOFs), mesoporous silica, polymeric nanoparticles, liposomes, and injectable hydrogels, researchers can now encapsulate gas-donor molecules to achieve sustained, localized delivery. More importantly, these advanced nanoplatforms are ingeniously engineered to be stimuli-responsive. By exploiting the pathological hallmarks of the diabetic wound environment, such as elevated glucose concentrations, acidic pH, and overexpressed ROS, or by utilizing external triggers like near-infrared (NIR) light irradiation and ultrasound, these intelligent platforms ensure on-demand, precise spatio-temporal gas release. This often allows for powerful synergistic combinations, such as photothermal or photodynamic therapy coupled with gas release, thereby obliterating biofilms while sparing healthy tissue. While the therapeutic outcomes of these smart delivery systems in eradicating MDR infections and accelerating tissue repair are unprecedented, several critical challenges remain before widespread clinical adoption, as long-term biosafety profiles of the carrier nanomaterials, complexities in large-scale good manufacturing practice (GMP) production, and stringent regulatory hurdles must be rigorously addressed. Looking forward, the next frontier lies in the realm of precision medicine and theranostics, where future research must focus on the seamless integration of these gas-releasing platforms with flexible, wearable biosensors capable of continuously monitoring wound biomarkers (e.g., pH, temperature, uric acid) in real-time. Coupled with artificial intelligence algorithms to govern automated, closed-loop adaptive dosing, these next-generation smart dressings hold the ultimate potential to comprehensively transform the clinical management of complex, infected diabetic wounds.
7.Spicy food consumption and risk of vascular disease: Evidence from a large-scale Chinese prospective cohort of 0.5 million people.
Dongfang YOU ; Dianjianyi SUN ; Ziyu ZHAO ; Mingyu SONG ; Lulu PAN ; Yaqian WU ; Yingdan TANG ; Mengyi LU ; Fang SHAO ; Sipeng SHEN ; Jianling BAI ; Honggang YI ; Ruyang ZHANG ; Yongyue WEI ; Hongxia MA ; Hongyang XU ; Canqing YU ; Jun LV ; Pei PEI ; Ling YANG ; Yiping CHEN ; Zhengming CHEN ; Hongbing SHEN ; Feng CHEN ; Yang ZHAO ; Liming LI
Chinese Medical Journal 2025;138(14):1696-1704
BACKGROUND:
Spicy food consumption has been reported to be inversely associated with mortality from multiple diseases. However, the effect of spicy food intake on the incidence of vascular diseases in the Chinese population remains unclear. This study was conducted to explore this association.
METHODS:
This study was performed using the large-scale China Kadoorie Biobank (CKB) prospective cohort of 486,335 participants. The primary outcomes were vascular disease, ischemic heart disease (IHD), major coronary events (MCEs), cerebrovascular disease, stroke, and non-stroke cerebrovascular disease. A Cox proportional hazards regression model was used to assess the association between spicy food consumption and incident vascular diseases. Subgroup analysis was also performed to evaluate the heterogeneity of the association between spicy food consumption and the risk of vascular disease stratified by several basic characteristics. In addition, the joint effects of spicy food consumption and the healthy lifestyle score on the risk of vascular disease were also evaluated, and sensitivity analyses were performed to assess the reliability of the association results.
RESULTS:
During a median follow-up time of 12.1 years, a total of 136,125 patients with vascular disease, 46,689 patients with IHD, 10,097 patients with MCEs, 80,114 patients with cerebrovascular disease, 56,726 patients with stroke, and 40,098 patients with non-stroke cerebrovascular disease were identified. Participants who consumed spicy food 1-2 days/week (hazard ratio [HR] = 0.95, 95% confidence interval [95% CI] = [0.93, 0.97], P <0.001), 3-5 days/week (HR = 0.96, 95% CI = [0.94, 0.99], P = 0.003), and 6-7 days/week (HR = 0.97, 95% CI = [0.95, 0.99], P = 0.002) had a significantly lower risk of vascular disease than those who consumed spicy food less than once a week ( Ptrend <0.001), especially in those who were younger and living in rural areas. Notably, the disease-based subgroup analysis indicated that the inverse associations remained in IHD ( Ptrend = 0.011) and MCEs ( Ptrend = 0.002) risk. Intriguingly, there was an interaction effect between spicy food consumption and the healthy lifestyle score on the risk of IHD ( Pinteraction = 0.037).
CONCLUSIONS
Our findings support an inverse association between spicy food consumption and vascular disease in the Chinese population, which may provide additional dietary guidance for the prevention of vascular diseases.
Humans
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Aged
;
Vascular Diseases/etiology*
;
Risk Factors
;
China/epidemiology*
;
Adult
;
Proportional Hazards Models
;
Cerebrovascular Disorders/epidemiology*
;
East Asian People
8.A Single-Arm Phase II Clinical Trial of Fulvestrant Combined with Neoadjuvant Chemotherapy of ER+/HER2– Locally Advanced Breast Cancer: Integrated Analysis of 18F-FES PET-CT and Metabolites with Treatment Response
Qing SHAO ; Ningning ZHANG ; Xianjun PAN ; Wenqi ZHOU ; Yali WANG ; Xiaoliang CHEN ; Jing WU ; Xiaohua ZENG
Cancer Research and Treatment 2025;57(1):126-139
Purpose:
This Phase II trial was objected to evaluate the efficacy and safety of adding fulvestrant to neoadjuvant chemotherapy in patients with estrogen receptor (ER)+/human epidermal growth factor receptor 2 (HER2)– locally advanced breast cancer (LABC). Additionally, the study aimed to investigate the association of 16α-18F-fluoro-17β-fluoroestradiol (18F-FES) positron emission tomography (PET)–computed tomography (CT) and metabolites with efficacy.
Materials and Methods:
Fulvestrant and EC-T regimen were given to ER+/HER2– LABC patients before surgery. At baseline, patients received 18F-FES PET-CT scan, and plasma samples were taken for liquid chromatography–mass spectrometry analysis. The primary endpoint was objective response rate (ORR). Secondary endpoints included total pathologic complete response (tpCR) and safety.
Results:
Among the 36 patients enrolled, the ORR was 86.1%, the tpCR rate was 8.3%. The incidence of grade ≥ 3 treatment-emergent adverse events was 22%. The decrease in ER value in sensitive patients was larger than that in non-sensitive patients, as was Ki-67 (p < 0.05). The maximum standardized uptake value, mean standardized uptake values, total lesion ER expression of 18F-FES PET-CT in sensitive patients were significantly higher than those in non-sensitive patients (p < 0.05). Moreover, these parameters were significantly correlated with Miller and Payne grade and the change in ER expression before and after treatment (p < 0.05). Thirteen differential expressed metabolites were identified, which were markedly enriched in 19 metabolic pathways.
Conclusion
This regimen demonstrated acceptable toxicity and encouraging antitumor efficacy. 18F-FES PET-CT might serve as a tool to predict the effectiveness of this therapy. Altered metabolites or metabolic pathways might be associated with treatment response.
9.A Single-Arm Phase II Clinical Trial of Fulvestrant Combined with Neoadjuvant Chemotherapy of ER+/HER2– Locally Advanced Breast Cancer: Integrated Analysis of 18F-FES PET-CT and Metabolites with Treatment Response
Qing SHAO ; Ningning ZHANG ; Xianjun PAN ; Wenqi ZHOU ; Yali WANG ; Xiaoliang CHEN ; Jing WU ; Xiaohua ZENG
Cancer Research and Treatment 2025;57(1):126-139
Purpose:
This Phase II trial was objected to evaluate the efficacy and safety of adding fulvestrant to neoadjuvant chemotherapy in patients with estrogen receptor (ER)+/human epidermal growth factor receptor 2 (HER2)– locally advanced breast cancer (LABC). Additionally, the study aimed to investigate the association of 16α-18F-fluoro-17β-fluoroestradiol (18F-FES) positron emission tomography (PET)–computed tomography (CT) and metabolites with efficacy.
Materials and Methods:
Fulvestrant and EC-T regimen were given to ER+/HER2– LABC patients before surgery. At baseline, patients received 18F-FES PET-CT scan, and plasma samples were taken for liquid chromatography–mass spectrometry analysis. The primary endpoint was objective response rate (ORR). Secondary endpoints included total pathologic complete response (tpCR) and safety.
Results:
Among the 36 patients enrolled, the ORR was 86.1%, the tpCR rate was 8.3%. The incidence of grade ≥ 3 treatment-emergent adverse events was 22%. The decrease in ER value in sensitive patients was larger than that in non-sensitive patients, as was Ki-67 (p < 0.05). The maximum standardized uptake value, mean standardized uptake values, total lesion ER expression of 18F-FES PET-CT in sensitive patients were significantly higher than those in non-sensitive patients (p < 0.05). Moreover, these parameters were significantly correlated with Miller and Payne grade and the change in ER expression before and after treatment (p < 0.05). Thirteen differential expressed metabolites were identified, which were markedly enriched in 19 metabolic pathways.
Conclusion
This regimen demonstrated acceptable toxicity and encouraging antitumor efficacy. 18F-FES PET-CT might serve as a tool to predict the effectiveness of this therapy. Altered metabolites or metabolic pathways might be associated with treatment response.
10.Infrared thermography-assisted design and harvesting of ultrathin anterolateral thigh perforator flaps.
Chenxi ZHANG ; Jiadong PAN ; Shanqing YIN ; Guoqing SHAO ; Xianting ZHOU ; Gaoxiang YU ; Luzhe WU ; Xin WANG
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(9):1143-1148
OBJECTIVE:
To explore the application value of infrared thermography in the design and harvesting of ultrathin anterolateral thigh perforator flaps.
METHODS:
Between June 2024 and December 2024, 9 cases of ultrathin anterolateral thigh perforator flaps were designed and harvested with the assistance of infrared thermography. There were 7 males and 2 females, aged 21-61 years (mean, 39.8 years). The body mass index ranged from 19.49 to 26.45 kg/m² (mean, 23.85 kg/m²). Causes of injury included 5 cases of traffic accident injuries and 4 cases of machine crush injuries. There were 3 cases of leg wounds, 2 cases of foot wounds, and 4 cases of hand wounds. After debridement, the size of wound ranged from 7 cm×4 cm to 13 cm×11 cm. The time from admission to flap repair surgery was 5-12 days (mean, 7 days). Preoperatively, perforator localization was performed using a traditional Doppler flow detector and infrared thermography, respectively. The results were compared with the actual intraoperative locations; a discrepancy ≤10 mm was considered as consistent localization (positive), and the positive predictive value was calculated. All 9 cases were repaired with ultrathin anterolateral thigh perforator flaps designed and harvested based on thermographic images. The size of flap ranged from 8 cm×5 cm to 14 cm×8 cm, with a thickness of 3-6 mm (mean, 5.2 mm). One donor site was repaired with a full-thickness skin graft, and the others were sutured directly. Postoperatively, anti-inflammatory, anticoagulant, and anti-vascular spasm treatments were administered, and follow-up was conducted.
RESULTS:
The Doppler flow detector identified 22 perforating vessels within the set range, among which 16 were confirmed as superficial fascia layer perforators intraoperatively, with a positive predictive value of 72.7%. The infrared thermograph detected 23 superficial fascia layer perforating vessels, and 21 were verified intraoperatively, with a positive predictive value of 91.3%. There was no significant difference between the two methods [OR (95%CI)=3.93 (0.70, 22.15), P=0.100]. The perforator localization time of the infrared thermograph was (5.1±1.3) minutes, which was significantly shorter than that of the Doppler flow detector [(10.1±2.6) minutes; MD (95%CI)=-5.00 (-7.08, -2.91), P<0.001]. Postoperatively, 1 case of distal flap necrosis healed after dressing change; all other flaps survived successfully. The skin grafts at donor site survived, and all incisions healed by first intention. All patients were followed up 3-6 months (mean, 4.7 months). No pain or other discomfort occurred at the donor or recipient sites. All patients with foot wounds could walk with shoes, and no secondary flap revision was required. Flaps in 3 hand wound cases, 2 foot wound cases, and 3 leg wound cases recovered light touch and pressure sensation, but not pain or temperature sensation; the remaining 2 cases had no sensory recovery.
CONCLUSION
Preoperative localization using infrared thermography for repairing ultrathin anterolateral thigh perforator flaps can help evaluate the blood supply status of perforators, reduce complications, and improve surgical safety and flap survival rate.
Humans
;
Perforator Flap/blood supply*
;
Adult
;
Male
;
Thermography/methods*
;
Female
;
Thigh/blood supply*
;
Middle Aged
;
Plastic Surgery Procedures/methods*
;
Tissue and Organ Harvesting/methods*
;
Infrared Rays
;
Skin Transplantation/methods*
;
Soft Tissue Injuries/surgery*
;
Young Adult

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