1.Mechanism of Embryo Implantation Promotion via Exosomal miRNA-mediated Communication Network at Maternal-fetal Interface Based on Bushen Huoxue Therapy
Pei GUO ; Jiajun LIU ; Hang ZHOU ; Zeyi GUO ; Yili WANG ; Linwen DENG ; Qian ZENG ; Jinzhu HUANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(14):317-327
ObjectiveTo investigate whether Bushen Huoxue prescription improves embryo implantation through regulating exosomal miRNA to enhance maternal-fetal interface communication based on Bushen Huoxue therapy. MethodsIn the animal experiment, all the rats (except for the blank group) were administered hydroxyurea (450 mg·kg-1) via gavage for 10 d, as well as epinephrine (0.3 mg·kg-1) and mifepristone (5.5 mg·kg-1) via subcutaneous injection for 7 d to establish an implantation disorder model of kidney deficiency and blood stasis type. The Bushen Huoxue prescription (BSHX) groups were administered the prescription at different doses (7.30 g·kg-1 for the high-dose group, 3.65 g·kg-1 for the medium-dose group, and 1.83 g·kg-1 for the low-dose group) via gavage. The dydrogesterone group was administered the corresponding medicine (2.63 mg·kg-1) via gavage. After intervention for 10 days, uterine histopathological changes were observed via hematoxylin-eosin (HE) staining. Mucin (MUC1), forkhead box protein O1 (FoxO1), and homeobox A10 (HoxA10) expression levels were detected by Real-time fluorescence quantitative polymerase chain reaction (Real-time PCR) and Western blot. Cell experiment selected primary endometrial epithelial cells (EEC) and trophoblast cells (TC) as research subjects. Exosome-free medicated serum was prepared by ultracentrifugation and cultured in complete medium. Exosomes were isolated from cell supernatants by ultracentrifugation for cross-co-culture. After 48 h, migration and invasion abilities were assessed by scratch and Transwell assays. Sequencing was then performed on EEC-origin exosomal miRNA. ResultsThe model rats exhibited thin endometrium, along with reduced blood vessels, glandules, and pinopode numbers. BSHX improved endometrial morphology and increased pinopode numbers. MUC1, FoxO1, and HoxA10 expressions were downregulated in the model rats, while these parameters were upregulated after BSHX medium- and high-dose intervention. In the cell experiment, after exosome-free medicated serum intervention for 24 h, migration and invasion abilities were enhanced in the BSHX groups (P<0.01). In EEC-origin exosomal miRNA sequencing, gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses revealed enrichment in biological processes (gastrulation, neuronal differentiation, alongside cell development and regeneration), involving the mitogen-activated protein kinase (MAPK), FoxO1, Wnt, mammalian target of rapamycin (mTOR), and tumor necrosis factor (TNF) signaling pathways. ConclusionBSHX promotes embryo implantation by improving endometrial receptivity via regulating exosomal miRNA. These findings provide potential targets for exosomal miRNA-based assisted reproductive strategies and a novel theoretical basis for infertility treatment by traditional Chinese medicine.
2.Harnessing Machine Learning for Personalized Care of Patients With Idiopathic Sudden Sensorineural Hearing Loss: A Multicenter Cohort Study
Yen-Ting GUO ; Ching-Ting TAN ; Chen-Chi WU ; Chun-Ying WANG ; Chein-Yu HUANG ; Tzu-Hsiang YANG ; Ting-Yi LEE ; Ting-Hua YANG ; Tien-Chen LIU ; Pey-Yu CHEN ; Pei-Hsuan LIN
Clinical and Experimental Otorhinolaryngology 2026;19(2):194-204
Objectives:
. Idiopathic sudden sensorineural hearing loss (ISSNHL) is a significant cause of hearing loss. Intratympanic steroid injection (ITSI) is commonly used as an initial or salvage treatment; however, the lack of a standardized treatment protocol has resulted in variability in clinical practice. In addition, no efficient prediction model currently exists to support personalized management. Therefore, this study aimed to develop tailored management strategies for ISSNHL using a machine-learning model.
Methods:
. This retrospective multicenter cohort study was conducted between January 2015 and December 2020, with data analysis performed between January 2021 and March 2024. Patients were selected based on the International Classification of Diseases, 10th Revision criteria for ISSNHL, along with relevant medication and procedure codes. Patients with pure-tone audiogram results not meeting ISSNHL criteria, better initial hearing in the affected ear, an identifiable etiology, no post-treatment audiogram, or delayed treatment (>6 weeks) were excluded. We included 770 patients diagnosed with ISSNHL who received ITSI. The primary outcome was the area under the receiver operating characteristic curve for prediction performance. Recovery status was determined using the last pure-tone audiogram. Modeling was conducted on the Quanta for Medical Care AI platform using five machine-learning algorithms and a nested cross-validation framework, in which feature selection and hyperparameter tuning were performed in the inner folds and model performance was evaluated in the outer folds.
Results:
. A random forest classifier outperformed the other models in predicting hearing outcomes, achieving an area under the receiver operating characteristic curve of 0.788. Time to ITSI was the most influential treatment-related factor, with ITSI administered within 10 days of hearing loss being associated with better outcomes. This model can be used to provide personalized prognostic estimates under different treatment protocols.
Conclusion
. The machine-learning-based prediction model facilitates personalized treatment strategies and timely treatment adjustments for ISSNHL, thereby optimizing the likelihood of complete recovery.
3.Pulmonary mucoepidermoid carcinoma:a clinicopathological study of 23 patients
Quan QIUYING ; Guo LINGCHUAN ; He XIAOSHUN ; Pang PEI ; Yang QIANQIAN
Chinese Journal of Clinical Oncology 2025;52(9):454-459
Objective:Primary pulmonary mucoepidermoid carcinoma(PMEC)is a rare malignant lung tumor that accounts for approxim-ately 0.1%-0.2%of all primary pulmonary neoplasms.Due to the non-specific clinical symptoms and epidemiological features,PMEC poses diagnostic challenges.Methods:Tissue blocks from 23 archived PMECs were collected from The First Affiliated Hospital of Soochow Uni-versity(November 2012 to December 2023).To establish definitive diagnoses,comprehensive histopathological evaluation,including histo-morphological analysis,immunohistochemistry(IHC),fluorescence in situ hybridization(FISH),and periodic acid-Schiff(PAS)staining were performed.Results:The tumors consisted of varying proportions of mucin-secreting cells(mucous cells),intermediate cells,and epidermoid cells.Immunophenotypically,CK7 was predominantly expressed in the mucous cells,whereas CK5/6,p40,and p63 were expressed in the epidermoid and intermediate cells.The Ki-67 proliferation index ranged from 5%to 60%.All tumors were negative for TTF-1 and Napsin A.Five of the tumors were positive for PD-L1(clone 22C3),with a tumor percentage score of 3%-20%.All 11 tumors tested for ALK(clone D5F3)were negative.IHC for c-Met was performed on two tumors and both were weakly positive(+).Mastermind-like transcriptional co-activator 2(MAML2)gene rearrangement was detected in 34.8%(8/23)of the tumors.Mucous cells were PAS positive.Kaplan-Meier surviv-al analysis revealed a significantly poorer prognosis for patients with lymph node metastasis,distant metastasis,advanced TNM stage(Ⅲ+Ⅳ),poor differentiation,or MAML2 gene rearrangement negativity.Univariate analysis identified poor histological differentiation,lymph node metastasis,distant metastasis,and advanced TNM stage as the major prognostic risk factors.Multivariate analysis confirmed poor differentiation and distant metastasis as independent risk factors for adverse outcomes.Conclusions:PMEC is an aggressive tumor with low incidence and non-specific clinical manifestations,leading to frequent misdiagnosis.Clinicians should maintain a high index of suspicion and ensure a thorough differential diagnosis.
4.Construction and validation of a digital and intelligent competence training program for specialized nurses in Central Sterile Supply Departments
Yuanzhi GUO ; Zhuoya YAO ; Junjie WANG ; Pei ZHAO ; Meng ZHAN ; Junfeng WANG ; Manchun LI
Chinese Journal of Nursing 2025;60(13):1624-1630
Objective To construct the training program for the digital and intelligent capabilities of specialized nurses in the Central Sterile Supply Department(CSSD),and conduct preliminary practice to provide talent support for the intelligent development of CSSD.Methods From February to April 2024,based on the core technologies of digital intelligence and related core capabilities,a training program for digital intelligence-related competencies of CSSD specialized nurses was constructed using literature review and the Delphi expert consultation method.From July to August 2024,the program was initially implemented in the training of CSSD specialized nurses.The nurses'information competency before and after the training was compared,and the nurses' satisfaction with the digital intelligence-related training program was assessed.Results This study conducted 2 rounds of expert consultation via questionnaire.The effective recovery rate of the questionnaires in both rounds was 100%.The expert authority coefficients were 0.790 and 0.800,respectively,and the variation coefficients ranged from 0 to 0.229 and 0 to 0.105.Ultimately,a training program for the digital-related competencies of CSSD specialty nurses was established,which includes 4 components:training objectives,training content,training methods,and assessment methods.Specifically,there were 3 indicators at the first level and 14 at the second level for training objectives,6 indicators at the first level and 32 at the second level for training content,and 6 indicators at the first level for training methods and assessment methods.After the implementation of the training program,the information competency of the nurses in all dimensions and the total score were significantly higher than those before training(P<0.05).Moreover,the average scores for the training content,training methods,and assessment methods were all above 3 points,indicating a high overall satisfaction among the nurses.Conclusion The construction process of the training program for the digital and intelligent capabilities of CSSD specialty nurses is scientific and reliable.The content is highly practical and distinctive in its specialty.The training methods and assessment approaches are diverse.This program can enhance nurses' information competency and provide a reference for the implementation of digital and intelligent training for CSSD specialty nurses.
5.Correlation between serum FT3/FT4 levels and carotid atherosclerosis in a physical examination population
Ying GUO ; Naisi ZHANG ; Dongmei PEI
Chinese Journal of Health Management 2025;19(7):493-499
Objective:To explore the correlation between the ratio of serum free triiodothyronine/free thyroxine (FT3/FT4) and carotid atherosclerosis in a population undergoing physical examination.Methods:This retrospective cross-sectional study consecutively enrolled 4 031 adult healthy examinees who underwent both carotid ultrasound and serum thyroid hormone level testing at the Health Management Center of Shengjing Hospital Affiliated to China Medical University from January 2017 to December 2023. The general information, anthropometric measurements, and related laboratory indicators were collected. Based on carotid ultrasound results, the participants were divided into carotid atherosclerosis group (2 382 cases) and non-carotid atherosclerosis group (1 649 cases). According to the median FT3/FT4 ratio (0.35), participants were further categorized into a high FT3/FT4 ratio group (1 998 cases) and a low FT3/FT4 ratio group (2 033 cases). Receiver operating characteristic (ROC) curve analysis was performed to assess the diagnostic value of serum FT3/FT4 levels for carotid atherosclerosis. Additionally, the carotid atherosclerosis group was subdivided into carotid intima-media thickness (CIMT) thickening group (1 006 cases) and plaque formation group (1 376 cases). Stepwise logistic regression analysis was used to assess the correlation between FT3/FT4 levels and different severity of carotid artery stiffness.Results:Among the 4 031 health examinees included in the study, the detection rate of carotid atherosclerosis was 59.09% (2 382/4 031). The FT3/FT4 ratio in the carotid atherosclerosis group was significantly lower than that in the non-carotid atherosclerosis group (0.34 vs 0.39, Z=-19.958, P<0.001). The incidence rate of carotid atherosclerosis in the high FT3/FT4 ratio group was significantly lower than that in the low FT3/FT4 ratio group (46.7% vs 71.3%, Z=251.797, P<0.001). Multivariate regression analysis revealed that the FT3/FT4 ratio was an independent protective factor for carotid atherosclerosis ( OR=0.493, 95% CI: 0.458-0.529), with a protective effect comparable to high-density lipoprotein cholesterol ( OR=0.659, 95% CI: 0.543-0.801), while fasting blood glucose ( OR=1.566) and low-density lipoprotein cholesterol ( OR=1.164) were risk factors. ROC curve analysis showed that the area under the curve (AUC) of the FT3/FT4 ratio for diagnosing carotid atherosclerosis was 0.685 (sensitivity 79.3%, specificity 50.2%, cutoff value 0.39). In the analysis of carotid atherosclerosis subtypes, the FT3/FT4 ratio in the plaque formation group (0.328) was significantly lower than that in the CIMT thickening group (0.360) and the non-stiffness group (0.391)(all P<0.001), and it exhibited a stronger protective effect against plaque formation ( OR=0.297, 95% CI: 0.256-0.344). Conclusion:The FT3/FT4 ratio shows a dose-response relationship with the severity of carotid artery sclerosis and can serve as an auxiliary screening indicator for individuals at high cardiovascular risk. To enhance diagnostic efficacy, it is recommended to integrate this measure with other metabolic indicators.
6.Construction and application of a hierarchical dynamic management intelligent system for nurses
Yuanzhi GUO ; Jie KOU ; Junjie WANG ; Hongli QIN ; Pei ZHAO ; Yifan ZHANG ; Qi WANG ; Hongmei ZHANG
Chinese Journal of Nursing 2025;60(15):1879-1883
Objective To construct a hierarchical dynamic management intelligent system for nurses and to validate its application effectiveness,providing a reference for the development of intelligent nursing human resource management.Methods The nurse hierarchical classification and dynamic promotion management mechanism were clarified,and a hierarchical dynamic management system for nurses was established,comprising 2 modules:personal growth,and tier management and review.The system was officially implemented in a tertiary A hospital in Henan Province in March 2024.A comparison was conducted between pre-implementation(2023)and post-implementation(2024),including nurse tier applications and promotions,efficiency in tier promotion evaluations,Psychological Capital Questionnaire scores of nurses,and user satisfaction with the system.Results Following the implementation of the hierarchical dynamic management intelligent system for nurses,the application rate for tier promotion increased by 11.33%.After system implementation,the promotion pass rate and Psychological Capital Questionnaire scores of nurses were significantly higher than those before implementation,while the time required for tier review was significantly shorter.These differences were statistically significant(P<0.05).The satisfaction survey scores for nurses applying for tier promotion and for reviewers using the system were(62.28±4.56)and(64.09±3.17)scores,respectively.Conclusion The application of the hierarchical dynamic management intelligent system for nurses helps enhance nurses'promotion pass rates and psychological capital,streamlines the nurse tier review process,and demonstrates high user satisfaction with the system.
7.Early results and indications of Stand-alone oblique lateral interbody fusion in lumbar lesions.
Zhong-You ZENG ; Xing ZHAO ; Wei YU ; Yong-Xing SONG ; Shun-Wu FAN ; Xiang-Qian FANG ; Fei PEI ; Shi-Yang FAN ; Guo-Hao SONG
China Journal of Orthopaedics and Traumatology 2025;38(5):454-464
OBJECTIVE:
To summarize the early clinical results and safety of Stand-alone OLIF application of lumbar lesions, and explored its surgical indications.
METHODS:
Total of 92 cases of lumbar spine lesions treated with Stand-alone OLIF at two medical centers from October 2014 to December 2018 were retrospectively analyzed, including 30 males and 62 females with an average age of (61.20±12.94) years old ranged from 32 to 83 years old. There were 20 cases of lumbar spinal stenosis, 15 cases of lumbar disc degeneration, 11 cases of lumbar degenerative spondylolisthesis, 6 cases of discogenic low back pain, 7 cases of giant lumbar disc herniation, 13 cases of primary lumbar discitis, 6 cases of adjacent vertebral disease after lumbar internal fixation surgery, and 14 cases of degenerative lumbar scoliosis. Pre-operative dual energy X-ray bone density examination 31 cases' T-values ranged from -1 to -2.4, 8 cases' T-values ranged from -2.5 to -3.5, and the rest had normal bone density. The number of fusion segments: 68 cases of single segment, 9 cases of two segment, 12 cases of three segment , and 3 cases of four segment. Fusion site:L1,2 1 case, L2,3 4 cases, L3,4 10 cases, L4,5 53 cases, L2,3-L3,4 3 cases, L3,4-L4,5 6 cases, L1,2L2,3L3,4 1 case, L1,2L3,4L4,5 1 case, L2,3L3,4L4,5 10 cases, L1,2L2,3L3,4L4,5 3 cases. The clinical results and imaging results of this group of cases were observed, as well as the complications.
RESULTS:
The surgical time ranged from 40 to 140 minutes with an average of (60.92±27.40) minutes. The intraoperative bleeding volume was 20 to 720 ml with an average of (68.22±141.60) ml. The patients had a follow-up period of 6 to 84 months with an average of (38.50±12.75) months. The height of the intervertebral space recovered from (9.23±1.94) mm in preoperative to (12.68±2.01) mm in postoperative, and (9.11±1.72) mm at the last follow-up, there was a statistically significant difference(F=6.641, P=0.008);there was also a statistically significant difference between the postoperative and preoperative height of the intervertebral space(t=9.27, P<0.000 1);and there was also a statistically significant difference (t=10.06, P<0.000 1) between the last follow-up and postoperative height of the intervertebral space. At the last follow-up, cage subsidence grading was as follows:level 0 in 69 cases (76 segments), levelⅠin 17 cases (43 segments), level Ⅱin 5 cases (14 segments), and level Ⅲ in 1 case (1 segment);according to the number of segments, normal subsidence accounts for 56.72%, abnormal subsidence accounts for 43.28%. Bone mineral desity of normal subsidence groups was -0.50±0.07 whinch was better than that the abnormal subsidence groups -2.10±0.43, and the difference was statistically significant(χ2=2.275, P=0.014). As well as there was a statistically significant difference in the patient's VAS of backache from (6.28±2.11) in preoperative to (1.48±0.59) in last follow-up(t=8.56, P<0.05). The ODI recovered from (36.30±7.52)% before surgery to (10.20±2.50)% at the last follow-up, with a statistically significant difference (t=7.79, P<0.000 1). Complications involved 4 cases of intraoperative vascular injury, 21 cases of endplate injury, and 4 cases of combined vertebral fractures. The incision skin has no necrosis or infection. There were 4 cases of left sympathetic chain injury, 4 cases of transient left hip flexion weakness, 2 cases of left thigh anterolateral numbness with quadriceps femoris weakness, and 1 case of incomplete intestinal obstruction;8 cases were treated with posterior pedicle screw fixation due to fusion cage settlement accompanied by stubborn lower back pain, and 6 cases were treated with fusion cage settlement and lateral displacement. According to the actual number of cases, there were 38 complications, with an incidence rate of 41.3%.
CONCLUSION
The application of Stand alone OLIF in lumbar spine disease fusion has achieved good early results, with obvious clinical advantages, but also there are high probability of complications. It is recommended to choose carefully. It is necessary to continuously summarize and gradually clarify and complete the surgical indications and specific case selection criteria.
Humans
;
Male
;
Female
;
Middle Aged
;
Spinal Fusion/methods*
;
Lumbar Vertebrae/injuries*
;
Aged
;
Adult
;
Retrospective Studies
;
Aged, 80 and over
8.Association between metabolic parameters and erection in erectile dysfunction patients with hyperuricemia.
Guo-Wei DU ; Pei-Ning NIU ; Zhao-Xu YANG ; Xing-Hao ZHANG ; Jin-Chen HE ; Tao LIU ; Yan XU ; Jian-Huai CHEN ; Yun CHEN
Asian Journal of Andrology 2025;27(4):482-487
The relationship between hyperuricemia (HUA) and erectile dysfunction (ED) remains inadequately understood. Given that HUA is often associated with various metabolic disorders, this study aims to explore the multivariate linear impacts of metabolic parameters on erectile function in ED patients with HUA. A cross-sectional analysis was conducted involving 514 ED patients with HUA in the Department of Andrology, Jiangsu Province Hospital of Chinese Medicine (Nanjing, China), aged 18 to 60 years. General demographic information, medical history, and laboratory results were collected to assess metabolic disturbances. Sexual function was evaluated using the 5-item version of the International Index of Erectile Function (IIEF-5) questionnaire. Based on univariate analysis, variables associated with IIEF-5 scores were identified, and the correlations between them were evaluated. The effects of these variables on IIEF-5 scores were further explored by multiple linear regression models. Fasting plasma glucose ( β = -0.628, P < 0.001), uric acid ( β = -0.552, P < 0.001), triglycerides ( β = -0.088, P = 0.047), low-density lipoprotein cholesterol ( β = -0.164, P = 0.027), glycated hemoglobin (HbA1c; β = -0.562, P = 0.012), and smoking history ( β = -0.074, P = 0.037) exhibited significant negative impacts on erectile function. The coefficient of determination ( R ²) for the model was 0.239, and the adjusted R ² was 0.230, indicating overall statistical significance ( F -statistic = 26.52, P < 0.001). Metabolic parameters play a crucial role in the development of ED. Maintaining normal metabolic indices may aid in the prevention and improvement of erectile function in ED patients with HUA.
Humans
;
Male
;
Erectile Dysfunction/metabolism*
;
Hyperuricemia/metabolism*
;
Adult
;
Middle Aged
;
Cross-Sectional Studies
;
Glycated Hemoglobin/metabolism*
;
Blood Glucose/metabolism*
;
Uric Acid/blood*
;
Young Adult
;
Triglycerides/blood*
;
Adolescent
;
Cholesterol, LDL/blood*
;
Penile Erection/physiology*
;
Surveys and Questionnaires
9.Trend in testicular volume change after orchiopexy in 854 children with cryptorchidism.
Ying-Ying HE ; Zhi-Cong KE ; Shou-Lin LI ; Hui-Jie GUO ; Pei-Liang ZHANG ; Peng-Yu CHEN ; Wan-Hua XU ; Feng-Hao SUN ; Zhi-Lin YANG
Asian Journal of Andrology 2025;27(6):723-727
The aim of this study was to investigate the trend in testicular volume changes after orchiopexy in children with cryptorchidism. The clinical data of 854 children with cryptorchidism who underwent orchiopexy between January 2013 and December 2016 in Shenzhen Children's Hospital (Shenzhen, China) were retrospectively analyzed. The mean (standard deviation) age of the patients was 2.8 (2.5) years, and the duration of follow-up ranged from 1 year to 5 years. Ultrasonography was conducted preoperatively and postoperatively. The variables analyzed included age at the time of surgery, type of surgical procedure, laterality, preoperative testicular position, preoperative and postoperative testicular volumes, and the testicular volume ratio of them. The average testicular volumes preoperatively and at 1 year, 2 years, 3 years, and 5 years postoperatively were 0.27 ml, 0.38 ml, 0.53 ml, 0.87 ml, and 1.00 ml, respectively ( P < 0.001). The corresponding testicular volume ratios were 0.67, 0.76, 0.80, 0.83, and 0.84 ( P < 0.001). The mean volume of the undescended testes was significantly smaller than the mean normative value ( P < 0.001, lower than the 10 th percentile). The postoperative testicular volumes in children with cryptorchidism were generally lower than those in healthy boys but were still greater than the 10 th percentile and exhibited an increasing trend. The older the child is at the time of surgery, the larger the gap in volume between the affected and normal testes. Although testicular volume tends to gradually increase after orchiopexy for cryptorchidism, it could not normalizes. Earlier surgery results in affected testicular volumes closer to those of healthy boys.
Humans
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Male
;
Cryptorchidism/diagnostic imaging*
;
Orchiopexy
;
Child, Preschool
;
Testis/surgery*
;
Retrospective Studies
;
Organ Size
;
Ultrasonography
;
Infant
;
Child
;
Postoperative Period
;
Follow-Up Studies
10.Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases.
Chuan ZHANG ; Pei ZHANG ; Bing-Bo ZHOU ; Xing WANG ; Lei ZHENG ; Xiu-Jing LI ; Jin-Xian GUO ; Pi-Liang CHEN ; Ling HUI ; Zhen-Qiang DA ; You-Sheng YAN
Chinese Journal of Contemporary Pediatrics 2025;27(7):808-814
OBJECTIVES:
To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.
METHODS:
A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene.
RESULTS:
For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).
CONCLUSIONS
Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
Humans
;
Phenylketonurias/epidemiology*
;
Female
;
Male
;
Retrospective Studies
;
Phenylalanine Hydroxylase/genetics*
;
Mutation
;
Child, Preschool
;
China/epidemiology*
;
Child
;
Infant

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