1.Mechanism of pachymic acid in ameliorating renal injury in pregnancy induced hypertension rats by regulating the Sirt1/PGC‑1α pathway
Junjiang ZHU ; Jincheng LIN ; Jiajian WU ; Yi ZENG ; Jun HU ; Min LI ; Hongying LIU ; Jinfen LI
China Pharmacy 2026;37(2):186-191
OBJECTIVE To investigate the mechanism of pachymic acid on renal injury in pregnancy induced hypertension (PIH) rats by regulating the silent information regulator transcript 1/peroxisome proliferator-activated receptor γ coactivator-1α (Sirt1/PGC-1α) pathway. METHODS Pregnant SD rats were prepared by co-caging and PIH model was induced using N-nitro-L- arginine methyl ester (L-NAME) method. PIH rats were randomly divided into model group, L-pachymic acid (low-dose pachymic acid, 10 mg/kg) group, H-pachymic acid (high-dose pachymic acid, 20 mg/kg) group, and H-pachymic acid+EX527 (20 mg/kg pachymic acid+10 mg/kg EX527) group, with 6 rats in each group. Another 6 normal pregnant rats were selected as blank group. Each group was given relevant medicine or solvent intragastrically or intraperitoneally daily, once a day, for 28 consecutive days. After the last administration, 24 h urinary protein and tail artery systolic blood pressure (SBP) were measured in pregnant rats from each group, along with the levels of serum creatinine (Scr), blood urea nitrogen (BUN),uric acid (UA), and cystatin C (Cys-C). The contents of superoxide dismutase (SOD), malondialdehyde (MDA), glutathione peroxidase (GSH-Px), and 8-hydroxy-2′-deoxyguanosine (8-OHdG) in renal tissue, as well as the mRNA and protein expression levels of Sirt1 and PGC-1α, were also determined. Meanwhile, renal histopathological changes in rats from each group were evaluated using hematoxylin-eosin (HE) staining and periodic acid-Schiff (PAS) staining. RESULTS Compared with model group, L-pachymic acid group and H-pachymic acid group exhibited significant decreases in 24 h urine protein quantification, tail artery SBP, Scr, BUN, UA, Cys-C levels, glomerulosclerosis index score of renal tissue, renal tubular injury score, the percentage of PAS positive area, MDA and 8-OHdG (P<0.05). Conversely, the contents of SOD and GSH-Px, along with the mRNA and protein expression levels of Sirt1 and PGC-1α, were significantly increased (P<0.05). Moreover, these improvements were more pronounced in H-pachymic acid group (P<0.05). Compared with H-pachymic acid group, the aforementioned indicators in pregnant rats from the H-pachymic acid+EX527 group showed significant reversal (P<0.05). CONCLUSIONS Pachymic acid significantly ameliorates renal injury induced by PIH in rats, potentially through activation of the Sirt1/PGC-1α pathway.
2.Research progress on health effects of triclosan and triclocarban
Jiaqi LIU ; Min HUANG ; Zichen YANG ; Yi WANG ; Ke ZHAO ; Yuhua ZHOU ; Yuanping WANG ; Na WANG ; Hexing WANG ; Qingwu JIANG
Shanghai Journal of Preventive Medicine 2026;38(3):251-258
Triclosan (TCS) and triclocarban (TCC) are widely used synthetic broad-spectrum antibacterial agents that can enter the human body through the skin, gastrointestinal tract, and other pathways. More and more studies have found that exposure to TCS and TCC can affect human health, but currently, review reports on the health effects of human exposure to TCS and TCC are limited. Therefore, this study reviewed population studies on the relationship between TCS and TCC exposure and health effects by searching the PubMed database, summarized the associated health outcomes, and elucidated the biological mechanisms. A total of 56 studies were retrieved, among which cross-sectional studies (25 studies, 44.64%) and cohort studies (25 studies, 44.64%) accounted for a relatively large proportion, while case-control studies (6 studies, 10.72%) were relatively few. Studies on TCS exposure (48 studies, 85.71%) were far more prevalent than those on TCC exposure (2 studies, 3.57%). The remaining 6 studies involved both TCS and TCC exposure. The research results revealed that TCS exposure was associated with male and female abnormal reproductive functions, fetal growth restriction, abnormal behavior development in children, obesity, gestational diabetes mellitus (GDM), and immune-related diseases. Although the results of different studies show significant differences, they have indicated that exposure to TCS is a potential risk factor for these health problems. Due to the limited number of studies, the evidence for the relationship between TCC exposure and most of the aforementioned health effects is insufficient. Population studies and in vitro and in vivo studies have shown that exposure to TCS and TCC can interfere with the microbial homeostasis, the endocrine system, oxidative stress and immune function of the body, which are potential mechanisms causing adverse health effects. In the future, large-scale prospective cohort studies, as well as in vivo and in vitro studies, are still needed to further clarify the associations between TCS and TCC exposure and health effects, and to deeply explore its mechanism of action. These efforts will provide references for clarifying the human health hazards of TCS and TCC exposure and formulating targeted prevention and control strategies.
3.Cage design-centric glider approach to full-endoscopic lumbar fusion: optimizing nerve root protection in facet-sparing and facet-resecting techniques
Yu-Chia HSU ; Hao-Chun CHUANG ; Yuan-Fu LIU ; Chao-Jui CHANG ; Yu-Meng HSIAO ; Yi-Hung HUANG ; Keng-Chang LIU ; Chien-Min CHEN ; Hyeun-Sung KIM ; Cheng-Li LIN
Asian Spine Journal 2026;20(2):343-353
Endoscopic transforaminal lumbar interbody fusion (TLIF) offers substantial advantages in the management of degenerative spinal diseases, including accelerated postoperative recovery. However, its technical complexity and steep learning curve pose risks for nerve root injury. Optimizing nerve root protection in full-endoscopic facet-sparing TLIF (FE fs-TLIF) and full-endoscopic facet-resecting TLIF (FE fr-TLIF) is essential for enhancing surgical safety. This study aimed to improve the nerve root protection in FE fs-TLIF and FE fr-TLIF by optimizing cage glider selection and insertion techniques based on the specific cage shape—banana-shaped or bullet-shaped. The goal was to ensure safe cage positioning and mitigate nerve root injury during discectomy, endplate preparation, and cage insertion. These strategies were validated through cadaveric simulations and clinical implementation. In FE fr-TLIF utilizing bullet-shaped (straight) cages, one-tip and two-tip cage gliders effectively protected the traversing nerve root by facilitating medial cage entry, thereby minimizing irritation of the exiting nerve root. Conversely, in FE fr-TLIF with banana-shaped cages, the lateral tilt of the cage holder during implantation required the use of a two-tip cage glider to protect the traversing and exiting nerve roots, thereby mitigating the potential risk of nerve irritation. In FE fs-TLIF, a one-tip cage glider is preferred for safeguarding the exiting nerve root, while the traversing root is inherently protected by the medial wall of the facet joint. The use of a two-tip cage glider in FE fs-TLIF can cause injury to the nerve root during glider insertion. In addition to the selection of cage gliders, improper cage insertion steps can also contribute to postoperative neurapraxia. The appropriate selection of cage gliders with corresponding insertion techniques is critical for nerve root protection in endoscopic TLIF. Tailoring these choices to the specific approach (FE fs-TLIF or FE fr-TLIF) and cage type (banana or bullet) enhances surgical safety and clinical outcomes.
4.Differences in deltamethrin resistance and kdr gene mutation in Culex tritaeniorhynchus population in and outside the Yellow Sea wetland
Xiao-er ZHANG ; Zhi-ming WU ; Ye TIAN ; Qian CUI ; Yu-qian JI ; Huan WANG ; Shu-juan YANG ; Yi-chao ZHAO ; Yu WANG ; Hua-yu YIN ; Yu DING ; Guo-jin YAN ; Min-sen ZHAO ; Shou-gang ZHANG ; Bing-dong SONG ; Hong-na CHEN ; Jian GAO ; Wei-fang YANG ; Yu-fu ZHANG ; Hui LIU ; Hong-liang CHU
Acta Parasitologica et Medica Entomologica Sinica 2026;33(2):101-107
Objective To gain insights into the biological characteristics of different populations of Culex tritaeniorhynchus within and around the Yellow Sea wetland from the perspective of the occurrence of resistance, we investigated the levels of resistance to deltamethrin and kdr gene mutation in the wetland and its peripheral areas. Methods Specimens were collected from Cx. tritaeniorhynchus populations at two monitoring sites in the Rare Bird National Nature Reserve and Tiaozi Ni Wetland Scenic Area, and also from two populations in Yancheng City and the Liuhe District of Nanjing, and the resistance of these mosquitoes to deltamethrin was determined using the CDC biotest bottle method. For each concentration of deltamethrin assessed, a random subset of exposed specimens was selected for amplification of the kdr gene fragment, followed by Sanger sequencing to identify and analyze resistance-associated mutations. Results The LC50 levels of deltamethrin among mosquitoes from the four populations in Luhe, Yancheng, the Rare Bird National Nature Reserve and the Tiaozi Ni Wetland Scenic Area were 2.048 5, 7.798 2, 3.473 3, and 17.695 5 mg/mL, respectively, with corresponding concentrations of deltamethrin ranging from 0.005 to 5.000,0.050 to 50.000,0.050 to 25.000 and 0.050 to 50.000 mg/mL, respectively. Furthermore, the ranges of the KT50 values were 11.76-107.43, 67.05-216.30,29.77-107.43 and 28.40-329.51 min; the 1-h knockdown rates were 34.58%-99.15%, 9.52%-43.80%, 55.09%-73.01%, and 10.09%-68.07%; and the 24-h mortality rates were 12.15%-67.52%,9.52%-79.56%,13.17%-82.21%, and 11.01%-78.99%, respectively. With respect to kdr gene mutation, we assayed a total of 63,70,59, and 57 mosquitoes for the four populations, for which we detected L1014F mutation frequencies of 14.29%, 35.00%, 20.34%, and 31.58%, respectively, with a majority of these mutations being heterozygous for resistance. In addition, five adult mosquitoes were identified has having synonymous mutations at site 1011[i. e. , AAT(asparagine)mutation to AAC(asparagine)]. Conclusions Our findings revealed the clear resistance of Cx. tritaeniorhynchus to deltamethrin in the Yancheng region of the Yellow Sea wetland, and the resistance phenotype and kdr frequency of Cx. tritaeniorhynchus in the wetland environment were comparable to those of Cx. tritaeniorhynchus in the wetland environment, thereby indicating that the resistance of different populations of Cx. tritaeniorhynchus was homogeneous under the pressure of different insecticide selection within and around the wetland. However, the underlying mechanisms need to be further studied.
5.Clinical efficacy analysis of sulbactam-durlobactam in the treatment of postoperative pulmonary infection caused by extensively drug-resistant Acinetobacter baumannii in liver transplant recipients
Yi ZHANG ; Min TIAN ; Bo WANG ; Xuemin LIU ; Xiaogang ZHANG ; Wenjing WANG
Organ Transplantation 2026;17(4):610-617
Objective To evaluate the clinical efficacy and safety of sulbactam-durlobactam in the treatment of pulmonary infection caused by extensively drug-resistant Acinetobacter baumannii (XDR-AB) after liver transplantation. Methods A retrospective analysis was performed on the data of 3 liver transplant recipients admitted to the First Affiliated Hospital of Xi'an Jiaotong University from May to December 2025, who developed postoperative XDR-AB pulmonary infection and received sulbactam-durlobactam-based anti-infective therapy. Clinical data, clinical efficacy, microbiological response, safety and outcomes were analyzed. Results All isolated strains were XDR-AB producing OXA-23 carbapenemase, and in vitro antimicrobial susceptibility testing showed sensitivity to sulbactam-durlobactam. After treatment with sulbactam-durlobactam, all 3 recipients achieved clinical cure and microbiological eradication, with a treatment course of 6-8 days and pathogen clearance time of 3-6 days. Septic shock was effectively controlled in all recipients, who were successfully weaned from mechanical ventilation, and oxygenation index and organ function scores were significantly improved. No definite nephrotoxicity or other severe adverse reactions related to sulbactam-durlobactam were observed during treatment, and the 30-day all-cause fatality was 0. Two critically ill recipients achieved rapid microbiological clearance after combined nebulized phage therapy. Conclusions Sulbactam-durlobactam-based regimen shows favorable efficacy and safety in liver transplant recipients with postoperative XDR-AB pulmonary infection, and has a promising clinical application prospect.
6.Design, synthesis and anti-Alzheimer's disease activity evaluation of cinnamyl triazole compounds
Wen-ju LEI ; Zhong-di CAI ; Lin-jie TAN ; Mi-min LIU ; Li ZENG ; Ting SUN ; Hong YI ; Rui LIU ; Zhuo-rong LI
Acta Pharmaceutica Sinica 2025;60(1):150-163
19 cinnamamide/ester-triazole compounds were designed, synthesized and evaluated for their anti-Alzheimer's disease (AD) activity. Among them, compound
7.Effects of Compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata on ILC2s-Related Factors in Lung of Allergic Rhinitis Model Mice
Yi ZHANG ; Xiaohua TAO ; Min LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):51-59
ObjectiveTo explore the effects of compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata on the expression of type 2 innate lymphoid cells(ILC2s)-related factors in the lung of allergic rhinitis(AR)mice. MethodsAccording to the random number table method,fifty-four C57BL/6J mice were randomly divided into the following groups: Blank group,model group,Mahuang Fuzi Xixintang group,Asari Radix et Rhizoma and Aconiti Lateralis Radix Praeparata group,Ephedrae Herba and Asari Radix et Rhizoma group,Ephedrae Herba and Aconiti Lateralis Radix Praeparata group,Ephedrae Herba group,Aconiti Lateralis Radix Praeparata group, and Asari Radix et Rhizoma group (6 mice in each group). Except the blank group,the other groups were subjected to intraperitoneal injection of ovalbumin(OVA)and intranasal challenge to induce AR. After the AR model was established,the mice in the blank group and the model group were given 0.2 mL·d-1 normal saline by gavage,while those in the Mahuang Fuzi Xixintang group(2.31 g·kg-1),Asari Radix et Rhizoma and Aconiti Lateralis Radix Praeparata group(1.54 g·kg-1), Ephedrae Herba and Asari Radix et Rhizoma group(1.16 g·kg-1), Ephedrae Herba and Aconiti Lateralis Radix Praeparata group(1.93 g·kg-1),Ephedrae Herba group(0.77 g·kg-1),Aconiti Lateralis Radix Praeparata group(1.16 g·kg-1),and Asari Radix et Rhizoma group(0.39 g·kg-1)were given corresponding medicine by gavage,with the treatment lasting for 14 consecutive days. The survival state of mice in each group was observed, and the levels of serum immunoglobulins E(IgE)after intranasal challenge were measured by enzyme-linked immunosorbent assay(ELISA). The pathological changes of nasal and lung tissues were observed by hematoxylin-eosin(HE)staining. The expression of ILC2s in lung tissue of mice was detected by immunofluorescence(IF). The mRNA expression of GATA binding protein 3(GATA3),retinoic acid receptor-related orphan receptor-α(RORα), and inhibitor of DNA binding 2(ID2)in the lung tissue of mice was detected by quantitative real-time polymerase chain reaction(real-time PCR). The levels of IgE,interleukin(IL)-4,IL-5, and IL-13 in serum were detected by ELISA. ResultsCompared with the blank group,the model group had poor survival state of mice and significantly increased serum IgE level after intranasal challenge(p<0.01). Additionally,the mice in the model group showed a large amount of neutrophil infiltration in the mucosa of the posterior turbinate, obvious nasal mucosal bleeding and purulent secretion,shed epithelium, thickened bronchial wall,obvious intravascular hyperemia and edema,diffusion and infiltration of a large number of inflammatory cells,seriously damaged alveolar structure,and local lung consolidation. The model group also exhibited significantly increased expression of ILC2s in the lung tissue(P<0.01),increased mRNA expression of GATA3 and RORα,decreased mRNA expression of ID2(P<0.05,P<0.01),and increased levels of serum IgE, IL-4,IL-5,and IL-13(P<0.05,P<0.01). Compared with the model group,the Mahuang Fuzi Xixintang group and the other medicine treatment groups showed improved survival state of mice, significantly reduced inflammatory cell infiltration in the nasal and lung tissues,a small amount of nasal mucosal bleeding,trachea wall thinning,and no hyperemia,edema, and nasal secretions. Furthermore, the expression of ILC2s in lung tissue was significantly decreased(P<0.01). The mRNA expression level of GATA3 was decreased(P<0.05),especially in the Aconiti Lateralis Radix Praeparata group(P<0.01). The expression mRNA levels of RORα were decreased only in the Ephedrae Herba and Aconiti Lateralis Radix Praeparata group and the Ephedrae Herba group(P<0.05). The levels of serum IgE were decreased(P<0.05), and IL-5 levels were significantly decreased(P<0.01). IL-4 levels were significantly decreased in the groups except the Aconiti Lateralis Radix Praeparata group(P<0.01),and the level of IL-13 in the Mahuang Fuzi Xixintang group was decreased(P<0.05). The levels of IL-13 in were significantly decreased in the Ephedrae Herba and Aconiti Lateralis Radix Praeparata group, Ephedrae Herba group, Aconiti Lateralis Radix Praeparata group, and Asari Radix et Rhizoma group(P<0.01). ConclusionDifferent compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata can reduce the inflammation of OVA-induced AR mice and has more advantages in reducing the secretion of IgE and IL-5. The compatibility of Ephedrae Herba and Aconiti Lateralis Radix Praeparata has the most advantage in reducing the mRNA expression of GATA3 and RORα to inhibit the expression of ILC2s and thus exert the anti-allergic effect,while the other compatibility has the extensive advantage in inhibiting the mRNA expression of GATA3.
8.Effects of Compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata on ILC2s-Related Factors in Lung of Allergic Rhinitis Model Mice
Yi ZHANG ; Xiaohua TAO ; Min LIU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(11):51-59
ObjectiveTo explore the effects of compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata on the expression of type 2 innate lymphoid cells(ILC2s)-related factors in the lung of allergic rhinitis(AR)mice. MethodsAccording to the random number table method,fifty-four C57BL/6J mice were randomly divided into the following groups: Blank group,model group,Mahuang Fuzi Xixintang group,Asari Radix et Rhizoma and Aconiti Lateralis Radix Praeparata group,Ephedrae Herba and Asari Radix et Rhizoma group,Ephedrae Herba and Aconiti Lateralis Radix Praeparata group,Ephedrae Herba group,Aconiti Lateralis Radix Praeparata group, and Asari Radix et Rhizoma group (6 mice in each group). Except the blank group,the other groups were subjected to intraperitoneal injection of ovalbumin(OVA)and intranasal challenge to induce AR. After the AR model was established,the mice in the blank group and the model group were given 0.2 mL·d-1 normal saline by gavage,while those in the Mahuang Fuzi Xixintang group(2.31 g·kg-1),Asari Radix et Rhizoma and Aconiti Lateralis Radix Praeparata group(1.54 g·kg-1), Ephedrae Herba and Asari Radix et Rhizoma group(1.16 g·kg-1), Ephedrae Herba and Aconiti Lateralis Radix Praeparata group(1.93 g·kg-1),Ephedrae Herba group(0.77 g·kg-1),Aconiti Lateralis Radix Praeparata group(1.16 g·kg-1),and Asari Radix et Rhizoma group(0.39 g·kg-1)were given corresponding medicine by gavage,with the treatment lasting for 14 consecutive days. The survival state of mice in each group was observed, and the levels of serum immunoglobulins E(IgE)after intranasal challenge were measured by enzyme-linked immunosorbent assay(ELISA). The pathological changes of nasal and lung tissues were observed by hematoxylin-eosin(HE)staining. The expression of ILC2s in lung tissue of mice was detected by immunofluorescence(IF). The mRNA expression of GATA binding protein 3(GATA3),retinoic acid receptor-related orphan receptor-α(RORα), and inhibitor of DNA binding 2(ID2)in the lung tissue of mice was detected by quantitative real-time polymerase chain reaction(real-time PCR). The levels of IgE,interleukin(IL)-4,IL-5, and IL-13 in serum were detected by ELISA. ResultsCompared with the blank group,the model group had poor survival state of mice and significantly increased serum IgE level after intranasal challenge(p<0.01). Additionally,the mice in the model group showed a large amount of neutrophil infiltration in the mucosa of the posterior turbinate, obvious nasal mucosal bleeding and purulent secretion,shed epithelium, thickened bronchial wall,obvious intravascular hyperemia and edema,diffusion and infiltration of a large number of inflammatory cells,seriously damaged alveolar structure,and local lung consolidation. The model group also exhibited significantly increased expression of ILC2s in the lung tissue(P<0.01),increased mRNA expression of GATA3 and RORα,decreased mRNA expression of ID2(P<0.05,P<0.01),and increased levels of serum IgE, IL-4,IL-5,and IL-13(P<0.05,P<0.01). Compared with the model group,the Mahuang Fuzi Xixintang group and the other medicine treatment groups showed improved survival state of mice, significantly reduced inflammatory cell infiltration in the nasal and lung tissues,a small amount of nasal mucosal bleeding,trachea wall thinning,and no hyperemia,edema, and nasal secretions. Furthermore, the expression of ILC2s in lung tissue was significantly decreased(P<0.01). The mRNA expression level of GATA3 was decreased(P<0.05),especially in the Aconiti Lateralis Radix Praeparata group(P<0.01). The expression mRNA levels of RORα were decreased only in the Ephedrae Herba and Aconiti Lateralis Radix Praeparata group and the Ephedrae Herba group(P<0.05). The levels of serum IgE were decreased(P<0.05), and IL-5 levels were significantly decreased(P<0.01). IL-4 levels were significantly decreased in the groups except the Aconiti Lateralis Radix Praeparata group(P<0.01),and the level of IL-13 in the Mahuang Fuzi Xixintang group was decreased(P<0.05). The levels of IL-13 in were significantly decreased in the Ephedrae Herba and Aconiti Lateralis Radix Praeparata group, Ephedrae Herba group, Aconiti Lateralis Radix Praeparata group, and Asari Radix et Rhizoma group(P<0.01). ConclusionDifferent compatibility of Ephedrae Herba,Asari Radix et Rhizoma, and Aconiti Lateralis Radix Praeparata can reduce the inflammation of OVA-induced AR mice and has more advantages in reducing the secretion of IgE and IL-5. The compatibility of Ephedrae Herba and Aconiti Lateralis Radix Praeparata has the most advantage in reducing the mRNA expression of GATA3 and RORα to inhibit the expression of ILC2s and thus exert the anti-allergic effect,while the other compatibility has the extensive advantage in inhibiting the mRNA expression of GATA3.
9.Osteopathia striata with cranial sclerosis caused by the AMER1 gene variant
Jian MA ; Xiao CHEN ; Yuqiang LYU ; Min GAO ; Rui DONG ; Zhongtao GAI ; Yi LIU
Chinese Journal of Applied Clinical Pediatrics 2025;40(1):60-63
A retrospective analysis was made on clinical data of a child with osteopathia striata with cranial sclerosis (OS-CS) diagnosed in the Department of Neonatology, Children′s Hospital Affiliated to Shandong University in January 2024.The proband was admitted to hospital due to premature delivery at 30 + 2 weeks, shortness of breath and poor response for 13 days after resuscitation.After birth, the child had no spontaneous breathing with floppy limbs.Tracheal intubation was required for positive pressure ventilation.Cranial ultrasound showed right subventricular hemorrhage with bilateral intraventricular hemorrhage and bilateral parieto-occipital subdural hemorrhage; cardiac ultrasound showed patent ductus arteriosus and tricuspid regurgitation; scrotal ultrasound showed bilateral inguinal cryptorchidism with right testicular hydrocele; gastrointestinal ultrasound showed that the lumen of the transverse colon was filled with many fecal matters with strong echoes.Whole exome sequencing(WES) indicated that the proband carried a hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene, which was inherited from his mother, as verified by Sanger sequencing.The hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene was rated as likely pathogenic (PVS1+ PM2-Supporting) according to the American College of Medical Genetics and Genomics(ACMG) guidelines, which was not included in the Human Gene Mutation Database(HGMD) database.High-throughput sequencing identified the hemizygous variant of c. 1489C>T(p.Arg497 *) in the AMER1 gene as the genetic etiology of the proband.This was the first report of AMER1 gene variant leading to OS-CS in China.The study enriches the variation spectrum and clinical phenotype spectrum of the AMER1 gene, providing a valuable foundation for clinical diagnosis, treatment, and subsequent research of the disease.
10.The nomogram prediction model for the risk of dropout in sublingual immunotherapy of patients with allergic rhinitis
Cong PENG ; Zhuguang YI ; Huiping YE ; Dan LIU ; Min WU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(3):330-337
Objective:To develop and externally validate a nomogram prediction model for assessing the risk of treatment dropout in allergic rhinitis (AR) patients undergoing sublingual immunotherapy (SLIT).Methods:Between February 2016 and December 2019, data from 358 and 259 AR patients undergoing SLIT were collected from Guizhou Provincial People′s Hospital and Huangshi Central Hospital, respectively. The data included general patient information, dust mite sIgE levels, allergen types, and 22 other clinical variables. Data from Guizhou Provincial People′s Hospital were used as the training set, while data from Huangshi Central Hospital were served as the external validation set. A multivariable Cox regression model was used to identify independent factors associated with SLIT dropout and to develop a nomogram prediction model.Results:Multivariate Cox regression analysis identified several significant factors influencing SLIT dropout, including dust mite sIgE levels (Grade Ⅱ-Ⅳ; HR=1.48, 95% CI: 1.16-1.88), presence of other allergic diseases ( HR=0.47, 95% CI: 0.37-0.61), Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) score ( HR=0.98, 95% CI: 0.97-1.00), WeChat management ( HR=0.77, 95% CI: 0.60-0.98), treatment efficacy ( HR=0.72, 95% CI: 0.56-0.92), age (5-17 years, HR=0.50, 95% CI: 0.36-0.71;≥60 years, HR=1.42, 95% CI: 1.08-1.87), household income (<5 000 CNY, HR=1.44, 95% CI: 1.09-1.90;>20 000 CNY, HR=0.66, 95% CI: 0.44-0.99), allergen types (single dust mite, HR=0.70, 95% CI: 0.49-0.93; and combined pollen or mold, HR=1.45, 95% CI: 1.02-2.04), and time to efficacy <3 months ( HR=0.73, 95% CI: 0.56-0.94), all P<0.05. At the third-year follow-up, the area under curve (AUC) for the nomogram model was 0.913 (95% CI: 0.881-0.943) in the training group and 0.886 (95% CI: 0.838-0.933) in the validation group. Calibration and decision curve analyses demonstrated the model′s consistency with actual dropout rates and clinical benefit in both groups. Additionally, a Brier score of 0.29 further confirmed the model′s predictive accuracy. Conclusion:We successfully develop a nomogram-based prediction model for SLIT dropout in AR patients, which could assist healthcare professionals in effectively identifying high-risk patients and facilitate the development of more personalized and timely treatment plans aimed at enhancing patient compliance.


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