1.Trends in incidence and mortality of acute myocardial infarction in Xiaoshan District, Hangzhou City from 2017 to 2023
Yuanyuan GAO ; Fenjuan WANG ; Dongfei WANG ; Yurong LI ; Yuanyuan JIANG ; Fangfang ZHAO ; Duanduan XIAO ; Junying LIN
Shanghai Journal of Preventive Medicine 2025;37(3):249-254
ObjectiveTo analyze the incidence rate and mortality of acute myocardial infarction (AMI) and their changing trends among the registered residents in Xiaoshan District, Hangzhou City from 2017 to 2023, so as to provide references for formulating policies related to AMI prevention. MethodsThe morbidity and mortality data of AMI among the registered residents in Xiaoshan District from 2017 to 2023 were collected through the Hangzhou Chronic Disease and Death Cause Monitoring System. Software such as Excel 2019, SPSS 25.0 and Joinpoint 4.9.1.0 were used to calculate the incidence rate, mortality, and average annual percentage change (AAPC) of AMI. ResultsFrom 2017 to 2023, the average annual crude incidence rate, age-standardized incidence rate using China standard population (ASIRC), and the age-standardized incidence rate using World standard population (ASIRW) of AMI in Xiaoshan District were 48.25/100 000, 29.14/100 000, and 21.64/100 000, respectively, and, from which the AAPCs were 5.495%, 6.010%, and 6.533%, respectively, all showing an upward trend. The average annual crude mortality rate, the age-standardized mortality rate using China standard population (ASMRC), and the age-standardized mortality rate using World standard population (ASMRW) were 11.76/100 000, 6.52/100 000, and 4.71/100 000, respectively, from which the AAPCs were -9.669%, -10.433% and -9.615%, respectively, all showing a downward trend. The average annual crude incidence rate of AMI was higher in males (65.87/100 000) than that in females (31.31/100 000). Moreover, the average annual crude mortality rate of AMI was higher in males (14.08/100 000) than that in females (9.52/100 000), and the difference was statistically significant (all P<0.001) .After age grouping, the crude incidence rate of AMI among the residents aged 35-, 45-, 55-, and 65- years in Xiaoshan District from 2017 to 2023 showed an upward trend over time, with AAPCs of 16.993%, 17.149%, 8.523%, and 5.002%, respectively. While the crude mortality rate in residents aged 35-, 75-, and 85-102 years showed an decreasing trend over time, with AAPCs of -23.977%, -15.467%, and -17.415%, respectively, but there was no statistically significant difference in the trends in incidence rate and mortality of other age groups (all P>0.05). ConclusionThe situation of AMI prevention and control among the registered residents in Xiaoshan District is not optimistic, and targeted measures should be strengthened for the male residents aged ≥35 years old.
2.Establishment and evaluation of a rat model of phlegm-heat and Fu-organ excess syndrome following ischemic stroke
Xingfeng PING ; Junying LYU ; Kai LI ; Zongxuan HUANG ; Jianxin YIN
Chinese Journal of Tissue Engineering Research 2025;29(11):2301-2309
BACKGROUND:Traditional Chinese medicine has rich experience and unique advantages in the empirical treatment of phlegm-heat and Fu-organs excess syndrome of ischemic stroke.In order to further explore the therapeutic targets and mechanisms of traditional Chinese medicine for this disease,it is crucial to establish a stable and reliable animal model of phlegm-heat and Fu-organs excess syndrome combined with empirical symptoms of ischemic stroke. OBJECTIVE:To explore the establishment method and evaluation system of the rat model of ischemic stroke with phlegm-heat and Fu-organ excess syndrome. METHODS:Sixty male Sprague-Dawley rats were randomly divided into four groups:blank control group(n=12),ischemic stroke group(n=18),disease+syndrome group(n=18),phlegm-heat and Fu-organ excess syndrome group(n=12),all of which were given high-fat diet for 25 days.On the 26th day,the rats in the blank control group and ischemic stroke group were intragastrically given normal saline and high fat diet,while those in the other two groups were intragastrically given autologous feces suspension and high fat diet for 3 continuous days.After gavage,ischemic stroke models were established using the suture method in the ischemic stroke group and disease+syndrome group.The changes in diet,water intake,body mass,body temperature,fecal traits,nasal secretions,sputum in the throat,and tongue image were recorded.Neurological deficits,tongue image,blood lipid levels,morphological changes of brain tissue and carotid artery,and the serum levels of motilin and somatostatin were detected. RESULTS AND CONCLUSION:Compared with the control group,the rats in the disease+syndrome group had shortness of breath,listlessness,irritability,bradykinesia,a large number of secretions around the nose,audible and heavy sputum in the throat,decreased diet and water intake,increased body mass,body temperature,and slingual vein score,decreased fecal pellet count,Bristol score and fecal moisture content,increased serum total cholesterol,triglyceride,low-density lipoprotein and somatostatin levels,decreased motilin level,increased neurological deficit score,significant pathological changes of the carotid artery,and significant morphological changes of the brain tissue.The ischemic stroke group only showed pathological changes of ischemic brain tissue,without the characteristics of phlegm-heat and Fu-organ excess syndrome.The phlegm-heat and Fu-organ excess syndrome group could present with the typical characteristics of traditional Chinese medicine syndromes,without the pathological changes of brain tissue with ischemic stroke.To conclude,the compound modeling method of high-fat induction combined with suture method and autologous feces gavage can establish an animal model of ischemic stroke with phlegm-heat and Fu-organ excess syndrome.
3.Summary of the best evidence for the management of patients with hepatocellular carcinoma receiving hepatic arterial infusion chemotherapy
Yan JI ; Yi WANG ; Xin LIN ; Junying HUANG ; Qian ZHONG ; Meng WANG ; Li LI
Journal of Interventional Radiology 2025;34(8):888-893
Objective To evaluate and summarize the best evidence for the management of patients with hepatocellular carcinoma(HCC)receiving hepatic arterial infusion chemotherapy(HAIC),so as to provide evidence-based basis for guiding clinical nursing practice.Methods According to the"6S"evidence model,a computerized retrieval of domestic and foreign academic papers concerning the management of HCC patients receiving HAIC,including guidelines,clinical decisions,systematic evaluation,evidence summaries,expert consensus and relevant high-quality original studies,from the databases was conducted.The retrieval time period was from the establishment of the database to January 2025.Two researchers independently assessed the quality of literature and extracted evidence.Results A total of 13 articles,including one guideline,one evidence summary,4 expert consensus documents,4 randomized controlled trials(RCT),2 cross-sectional surveys,and one case report,were included in this study.A total of 4 pieces of best evidence,involving 24 aspects,were summarized.Conclusion This summary of the best evidence provides evidence-based support for the management of HCC patients receiving HAIC.It is recommended that the formulation of most appropriate management plan should be based on each patient's own condition and the environment of medical resources while transforming and applying the evidence in clinical practice.
4.Study on activation mechanism of SGCs in representation along the distribution of stomach meridian in IBS-D mice.
Na LI ; Junhui REN ; Lu GUAN ; Yashuang XU ; Liyan ZHONG ; Xiaomei SHAO ; Jianqiao FANG ; Junying DU ; Junfan FANG
Chinese Acupuncture & Moxibustion 2025;45(5):593-600
OBJECTIVE:
To explore the peripheral neural mechanism underlying representation along the distribution of stomach meridian induced by intestinal inflammatory reaction using diarrhea predominant-irritable bowel syndrome (IBS-D) mice.
METHODS:
Among 62 healthy male C57BL/6 mice of clean grade, 12 mice were randomly selected and divided into a control group and a model group, 6 mice in each group, additionally, 12 mice were randomly selected and divided into a Tianshu group, a Liangqiu group and a Zusanli group, 4 mice in each group. In the model group, citrobacter was administered orally to establish IBS-D model. In the control group and the model group, the visceral pain threshold was observed using fecal colorectal distension (fCRD) induced electromyography of external oblique muscle, the positive cell number of neutrophil in the colonic muscularis was detected by myeloperoxidase (MPO) staining, the number, location and distribution rule of Evans blue (EB) extravasation points were observed by injection of EB staining solution into the tail vein. In the Tianshu group, the Liangqiu group and the Zusanli group, fluorescent dye Dil was injected at bilateral "Tianshu" (ST25), "Liangqiu" (ST34) and "Zusanli" (ST36) respectively, to observe the dye-positive cell number in different dorsal root ganglion (DRG) segments. In the control group and the model group, the activation of satellite glial cells (SGCs) in different DRG segments was observed by immunofluorescence.
RESULTS:
Compared with the control group, in the model group, the area under curve of electromyography of external oblique muscle was increased at fCRD of 25, 50 and 75 μL distilled water (P<0.001, P<0.01); the MPO-positive cell number of neutrophil in the colonic muscularis was increased (P<0.01). Few EB extravasation points could be found in the control group, while there were much more EB extravasation points observed in the model group, which was specially distribution in the area of stomach meridian, from "Huaroumen" (ST24) to "Zusanli" (ST36), as well as the surface area dominated by L2-L5 segment of the spinal cord. The Dil-positive cells were mainly exhibited in the DRG of T11, L5 and L4 segments in the Tianshu group, the Liangqiu group and the Zusanli group, respectively. Compared with the control group, the ratio of glial fibrillary acidic protein (GFAP)/glutamine synthetase (GS) co-expression was increased in the DRG of T11, L4 and L5 segments in the model group (P<0.05, P<0.01).
CONCLUSION
The activation of SGCs within DRG of T11, L4 and L5 segments may relate closely to the occurrence of the representation along the stomach meridian distribution in IBS-D mice.
Animals
;
Male
;
Mice
;
Irritable Bowel Syndrome/therapy*
;
Mice, Inbred C57BL
;
Meridians
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Stomach/physiopathology*
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Humans
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Acupuncture Points
;
Disease Models, Animal
5.Diagnotic value of endoscopic retrograde cholangiopancreatography combined with modified biopsy forceps for suspected malignant biliary stricture (with video)
Junying LIU ; Mengqiang CAI ; Yurong CUI ; Wei LIU ; Zhaoxia HE ; Haiyang YU ; Jinxin LI
Chinese Journal of Digestive Endoscopy 2025;42(7):572-576
To explore the diagnostic value of endoscopic retrograde cholangiopancreatography (ERCP) combined with modified biopsy forceps for suspected malignant biliary obstruction, 72 patients with suspected malignant biliary obstruction who underwent ERCP using modified biopsy forceps from January 2017 to April 2023 in the First Affiliated Hospital of Henan University of Chinese Medicine were selected as the modified group, while 61 contemporaneous patients who underwent ERCP with traditional biopsy forceps were selected as the control group at the same time. The stenosis site was identified during the operation, and the effective pathological tissue was obtained by biopsy. Benign or malignant tumor was determined according to the medical history and clinical follow-up data. The sensitivity and specificity of the two groups were compared. The success rate of biopsy was 100.00% in the two groups. All patients had no serious complications and were diagnosed histologically. Sixty-seven cases were finally diagnosed as malignant and 5 cases were benign in the modified group. In the control group, 58 cases were malignant and 3 cases were benign. The sensitivity for diagnosis of malignant biliary stricture was 79.10% (54/67) in the modified group, and 60.34% (35/58) in the control group, with significant difference ( χ2=6.218, P= 0.013). The specificity of the two methods for the diagnosis of malignant stenosis was 100.00%. Therefore, it is safe and effective to apply ERCP combined with the modified biopsy forceps in the diagnosis of extrahepatic malignant bile duct stenosis.
6.Regularity of prescriptions for ischemic stroke based on latent structure combined with association rules
Xingfeng PING ; Zongxuan HUANG ; Kai LI ; Guangmin XIE ; Junying LYU
Chinese Journal of Tissue Engineering Research 2025;29(29):6277-6284
BACKGROUND:Currently,traditional Chinese medicine has accumulated extensive experience in the treatment and management of ischemic stroke.The application of latent structure combined with association rule analysis to deeply explore and summarize the"medicine-prescription-syndrome"rules is conducive to promoting the optimization of ischemic stroke prevention and treatment strategies.OBJECTIVE:To explore the rules of Chinese medicine in the treatment of ischemic stroke,and provide a reference for the clinical treatment of ischemic stroke based on syndrome differentiationMETHODS:A systematic search was conducted for clinical research literature on traditional Chinese medicine treatment of ischemic stroke from China National Knowledge Infrastructure(CNKI),WanFang,VIP,and SinoMed databases,covering the period from January 1,1990,to August 15,2024.The relevant studies were selected and the data were extracted into an Excel 2019 database for analysis.The frequency of use of Chinese herbs,their properties,meridional tropism,therapeutic effects and associated syndromes were analyzed.High-frequency herbs(>4%)were subjected to latent structure modeling,comprehensive clustering,and association rule analysis using Lantern 5.0 and RStudio software,followed by summary of medication patterns and potential traditional Chinese medicine syndromes for ischemic stroke.RESULTS AND CONCLUSION:(1)A total of 231 articles were included,involving 203 kinds of traditional Chinese medicine,and the frequency of use was 2 524 times.(2)The high-frequency Chinese herbs were Chuanxiong,Earthworm,Angelica,Astragalus,Salviorrhiza,red peony root,safflower,leech,peach kernel,and pinellia.These herbs had predominantly warm,cold,or neutral properties,with bitter,sweet,and pungent flavors.Primary meridional tropism targets the liver,spleen and heart.Drug for invigorating blood circulation and eliminating stasis,deficiency tonifying drug,calming liver wind drug,expectorant cough suppressant and anti-asthmatic drug were used more frequently.(3)The latent structure model analysis identified 7 latent variables,14 latent classes,6 comprehensive clustering models,and 19 core prescriptions.It is hypothesized that the main traditional Chinese medicine syndromes for ischemic stroke are qi deficiency and blood stasis syndrome,wind-phlegm obstructing the channels syndrome,phlegm and blood stasis obstructing the channels syndrome,and phlegm-heat obstructing the viscera syndrome.(4)The association rule analysis revealed 29 strongly associative rules,including 2 two-item rules and 27 three-item rules.The highest degree of support was Angelica-Chuanxiong,and the highest degree of confidence was Angelica+licorice-Chuanxiong.The results show that ischemic stroke is a syndrome with qi and blood deficiency,liver and kidney Yin deficiency as the root causes,and wind,phlegm,blood stasis,and fire as the manifestations.The treatment is mainly to benefit qi and strengthen health,promote blood circulation and remove blood stasis,combined with pathological factors such as"phlegm and heat,""qi stagnation,""Yin deficiency,"and"liver fire,"supplemented by clearing heat and phlegm,promoting qi stagnation,nourishing liver and kidney,clearing liver and reducing fire.
7.Influencing factors for atrial fibrillation in elderly patients with heart failure and construction of a nomogram model
Yakun SU ; Tingting LIN ; Qiong WANG ; Fengde LI ; Junying SONG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2025;27(8):1010-1015
Objective To elucidate the independent risk factors for AF in elderly patients with HF,develop a nomogram prediction model,and assess its predictive value for AF in elderly HF pa-tients.Methods A retrospective study was conducted on 299 patients of first HF hospitalization in Hengshui People's Hospital from June 2019 to December 2023,and based on the presence or absence of AF,they were divided into an AF group(133 cases)and a non-AF group(166 cases).The patients admitted from June 2019 to December 2022 were assigned into a modeling cohort(206 cases),while those from January 2023 to December 2023 into a validation cohort(93 cases).The general data were collected.Multivariate logistic regression analysis was performed on the modeling cohort to identify the independent predictors of AF in elderly HF patients,and a nomo-gram prediction model was constructed.ROC curve,calibration curve and clinical decision curve analyses were applied to evaluate the discrimination,calibration and clinical practicability of the prediction model.Results Multivariate logistic regression analysis revealed that the etiology of HF(CHD vs HP,OR=0.610,95%CI:0.301-1.250,P=0.178;CMD vs HP,OR=0.213,95%CI:0.052-0.883,P=0.033),LAD(OR=1.081,95%CI:1.020-1.152,P=0.015),HF classifi-cation(HFmrEF vs HFrEF,OR=5.897,95%CI:2.448-14.201,P=0.000;HFpEF vs HFrEF,OR=7.211,95%CI:2.522-20.640,P=0.001),pre-albumin(PALB)(OR=0.438,95%CI:0.217-0.901,P=0.030),UAC(OR=2.186,95%CI:1.075-4.430,P=0.025),and direct biliru-bin(DBi)(OR=4.531,95%CI:2.052-9.990,P=0.000)were independent risk factors for AF in the elderly HF patients.ROC curve analysis showed the AUC value of the prediction model based on these factors in the modeling cohort was 0.831,and the AUC value in the validation cohort was 0.840.Decision curve analysis indicated that the model possessed clinical practicability within a probability threshold range of 10%-82%for the modeling cohort and 12%-100%for the vali-dation cohort.Conclusion Our nomogram prediction model based on multivariate logistic regres-sion analysis exhibits good predictive value for the occurrence of AF in elderly HF patients,and can facilitate clinical decision-making on diagnosis and treatment.
8.Sleep disorder and mental fatigue in elderly patients with cerebral small vessel disease
Cunsheng WEI ; Yingying XUE ; Qian LI ; Xiaorong YU ; Meng CAO ; Junying JIANG ; Xuemei CHEN
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2025;27(8):1061-1064
Objective To explore the sleep quality and mental fatigue level in elderly patients with cerebrovascular small disease(CSVD).Methods A total of 222 patients aged over 65 years old hospitalized due to chronic diseases in Department of Neurology of the Affiliated Jiangning Hospi-tal of Nanjing Medical University from August 2022 to June 2024 were recruited prospectively and continuously.According to the CSVD score,they were divided into a CSVD group(CSVD score≥1,148 cases)and a non-CSVD group(CSVD score=0,74 cases).All the patients were evaluated by sleep quality,fatigue and neuropsychological scale when they were fully cooperated and in good condition.Subsequently,the patients in the CSVD group were further assigned into a good sleep subgroup(117 cases)and a poor sleep subgroup(31 patients).Results The CSVD group had significantly higher total score of Pittsburgh sleep quality index(PSQI),sleep quality score,sleep disturbance score,total score of self-rating fatigue,and mental fatigue score than the non-CSVD group(P<0.01).The sleep quality score,sleep disturbance score,and mental fatigue score were risk factors for CSVD(P<0.05).The mental fatigue score was significantly higher in the CSVD patients with poor sleep than those with good sleep(4.13±1.15 vs 2.50±1.92,P<0.01).Conclusion Elderly CSVD patients were more likely to have decreased sleep quality and mental fatigue,and among them,those with poor sleep quality are prone to having mental fatigue than those with good sleep.
9.Comparative efficacy of whole blood transfusion versus component therapy in the resuscitation of patients with traumatic shock: a Meta-analysis
Yingkai XU ; Zihan YUAN ; Junying LI ; Wanbing LIU ; Lei LIU
Chinese Journal of Trauma 2025;41(6):594-604
Objective:To compare the efficacy of whole blood (WB) versus component therapy (COMP) in the resuscitation of patients with traumatic shock.Methods:A systematic literature search was conducted using PubMed and Embase databases for English literature published from January 2006 to December 2023. Studies on the comparative efficacy of WB versus COMP in resuscitation of patients with traumatic shock were all included. Patients were categorized according to the initial transfusion strategies into WB group and COMP group. Primary outcome indicators were extracted and subjected to meta-analysis, including transfusion requirements after admission (4-hour red blood cell requirement, 4-hour plasma requirement, 4-hour total transfusion volume, 24-hour red blood cell requirement, 24-hour plasma requirement, and 24-hour total transfusion volume), length of hospital stay, length of ICU stay, and mortality rates (early mortality, 24-hour mortality, late mortality, and in-hospital mortality, and 24-hour mortality with multiple variables adjusted).Results:Twenty-seven studies involving 15 176 patients (4 692 patients in WB group and 10 484 in COMP group) were included. Meta-analysis results indicated that the 4-hour red blood cell requirement (SMD=-0.44, 95% CI -0.69, -0.19, P<0.01), 4-hour plasma requirement (SMD=-0.25, 95% CI -0.50, -0.01, P<0.05), 24-hour red blood cell requirement (SMD=-0.22, 95% CI -0.36, -0.09, P<0.01), and 24-hour mortality with multiple variables adjusted ( OR=0.78, 95% CI 0.68, 0.91, P<0.05) were significantly reduced in WB group. No significant differences were observed between the two groups regarding 4-hour total transfusion volume, 24-hour plasma requirement, 24-hour total transfusion volume, length of hospital stay, length of ICU stay, early mortality, 24-hour mortality, late mortality, and total in-hospital mortality ( P>0.05). Conclusions:WB demonstrates certain advantages over COMP in the resuscitation of patients with traumatic shock by reducing 4-hour red blood cell requirement, 4-hour plasma requirement, 24-hour red blood cell requirement, and 24-hour mortality with multiple variables adjusted. However, WB and COMP demonstrate comparable effectiveness in reducing 4-hour total transfusion volume, 24-hour plasma requirement, 24-hour total transfusion volume, early mortality rate, 24-hour mortality rate, late mortality rate, and in-hospital mortality.
10.Clinical analysis of a child with heterotopic ventricular gray matter Renpenning syndrome caused by PQBP1 gene mutation and a literature review
Yazhen FAN ; Jianchuang ZHAO ; Qian CHEN ; Xianjie HUANG ; Fan LI ; Junying QIAO
Chinese Journal of Medical Genetics 2025;42(3):314-321
Objective:To explore the genetic etiology of a child with Renpenning syndrome (RS), and review the literature on the clinical characteristics and gene mutations of RS.Methods:A child with RS (patient 1) who was diagnosed and treated in the Pediatric Intensive Care Unit of the Third Affiliated Hospital of Zhengzhou University in November 2023 was selected as the research object. The medical history, family history, physical examination, cerebrospinal fluid examination, echocardiography, brain magnetic resonance imaging (MRI), brain magnetic resonance angiography, cardiac coronary CT angiography and intelligence quotient (IQ) score of child 1 were retrospectively collected. Peripheral venous blood samples were collected from patient 1, his parents, sister and brother, respectively. Genomic DNA was extracted from the child and his family members, and three-whole exome sequencing (Trios-WES) was performed. Sanger sequencing was used to verify the pedigree. Bioinformatics softwares (Mutation Taster, REVEL, SIFT, PolyPhen-2, GERP+ +, SWISS-MODEL) were applied. The pathogenicity of the detected variants was rated according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Classification of Genetic Variants (hereinafter referred to as the ACMG Guidelines). " PQBP1 gene" " Renpenning syndrome" " PQBP1 gene" " Renpenning syndrome" were used as keywords in Chinese and English, respectively. Case reports of patients with RS caused by PQBP1 gene variants were retrieved from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed database. The clinical features and gene variants of RS caused by PQBP1 gene variants were summarized and analyzed. This study was reviewed by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Approval No. 2024-334-01). Results:The patient 1, a 12-year-old boy, was admitted to the hospital due to fever and disturbance of consciousness. Cerebrospinal fluid test showed viral encephalitis caused by human herpesvirus 7 infection. The main clinical manifestations were unusual facies (microcephaly, long narrow face, microphthalmos, superior oblique palpebral fissure, hypertelorism of inner canthus, bulbous nasal columella) and mental retardation. Auxiliary examination showed than patient 1 had atrial septal defect, nodular heterotopia in the posterior horn of the left ventricle, angiodysplasia, and low IQ. The disease began in infancy, and there was no family history of related diseases. A hemizygous deletion, c. 459_462del (p.Arg153SerfsTer41), was identified in exon 5 of the PQBP1 gene in patient 1, which was inherited from his mother by Sanger sequencing. The results of bioinformatics analysis showed that the mutation was harmful. This variant was rated as pathogenic (PVS1+ PS4+ PM2_Supporting+ PP3) according to ACMG Guidelines. According to the literature search strategy set in this study, a total of 13 cases of RS were retrieved, involving 16 cases of RS patient caused by PQBP1 gene mutation (patients 2-17), including patient 1, a total of 17 cases of RS. Among the 17 patients, 16 male patients had hemizygous mutations in the X chromosome PQBP1 gene, and 1 female patient had heterozygous mutations, including 12 deletion frameshift nonsense mutations, 3 point missense mutations, and 2 duplication mutations. Except for two fetuses, all patients had special facial features and low IQ to varying degrees. Ten patients had abnormal development of one or more organs such as eyes, heart, brain, etc. Conclusion:The main clinical manifestations of RS are developmental delay, long narrow face, bulbous nose, microcephaly, and may be accompanied by heterotopia of gray matter of ventricle and congenital heart disease. The c. 459_462del (p.Arg153SerfsTer41) variant of the PQBP1 gene is the genetic basis of patient 1 in this study.

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