1.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.
2.Construction of a nomogram prediction model for post-treatment recurrence in children with hemangioma
Journal of Shenyang Medical College 2025;27(3):282-287
Objective:To investigate the influencing factors of post-treatment recurrence in children with hemangioma and construct a nomogram prediction model.Methods:A total of 280 children with hemangioma treated with propranolol in our hospital from May 2021 to May 2023 were enrolled and divided into the recurrence group(71 cases)and the non-recurrence group(209 cases)based on post-treatment outcomes.Multivariable logistic regression was performed to analyze the factors influencing the recurrence of hemangioma.R package 4.0'rms'was used to construct a nomogram model for predicting the recurrence.Calibration and decision curves were used to internally validate the nomogram model and evaluate the clinical prediction effectiveness.Results:Multivariable logistic regression analysis showed that hemangioma type(OR=1.754,95%CI:1.102-3.565),medication dosage(OR=1.774,95%CI:1.132-4.993),treatment duration(OR=1.841,95%CI:1.142-5.845),age at initial medication(OR=1.695,95%CI:1.104-3.450),and age at treatment discontinuation(OR=1.889,95%CI:1.218-5.254)were independent risk factors of post-treatment recurrence of hemangioma among the children(P<0.05).The calibration curve of the nomogram model closely aligned with the original and ideal curves,with a C-index of 0.810(0.746-0.873).The decision curve showed that the threshold value of the nomogram model was>0.17,with high net clinical benefit for all of them,and was higher than the hemangioma type,medication dosage,treatment duration,age at initial medication,and age at treatment discontinuation.Conclusions:The factors affecting post-treatment recurrence in children with hemangiomas are hemangioma type,medication dosage,treatment duration,age at initial medication,and age at treatment discontinuation.A nomogram model constructed using these factors as predictors can help to predict and evaluate post-treatment recurrence in children with hemangiomas,enabling early intervention and improved prognosis.
3.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.
4.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.
5.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 Trios-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.
Humans
;
Male
;
Mutation
;
Pedigree
;
Child
;
DNA-Binding Proteins/genetics*
;
Nuclear Proteins/genetics*
;
Female
;
Exome Sequencing
6.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.
7.Construction of a nomogram prediction model for post-treatment recurrence in children with hemangioma
Journal of Shenyang Medical College 2025;27(3):282-287
Objective:To investigate the influencing factors of post-treatment recurrence in children with hemangioma and construct a nomogram prediction model.Methods:A total of 280 children with hemangioma treated with propranolol in our hospital from May 2021 to May 2023 were enrolled and divided into the recurrence group(71 cases)and the non-recurrence group(209 cases)based on post-treatment outcomes.Multivariable logistic regression was performed to analyze the factors influencing the recurrence of hemangioma.R package 4.0'rms'was used to construct a nomogram model for predicting the recurrence.Calibration and decision curves were used to internally validate the nomogram model and evaluate the clinical prediction effectiveness.Results:Multivariable logistic regression analysis showed that hemangioma type(OR=1.754,95%CI:1.102-3.565),medication dosage(OR=1.774,95%CI:1.132-4.993),treatment duration(OR=1.841,95%CI:1.142-5.845),age at initial medication(OR=1.695,95%CI:1.104-3.450),and age at treatment discontinuation(OR=1.889,95%CI:1.218-5.254)were independent risk factors of post-treatment recurrence of hemangioma among the children(P<0.05).The calibration curve of the nomogram model closely aligned with the original and ideal curves,with a C-index of 0.810(0.746-0.873).The decision curve showed that the threshold value of the nomogram model was>0.17,with high net clinical benefit for all of them,and was higher than the hemangioma type,medication dosage,treatment duration,age at initial medication,and age at treatment discontinuation.Conclusions:The factors affecting post-treatment recurrence in children with hemangiomas are hemangioma type,medication dosage,treatment duration,age at initial medication,and age at treatment discontinuation.A nomogram model constructed using these factors as predictors can help to predict and evaluate post-treatment recurrence in children with hemangiomas,enabling early intervention and improved prognosis.
8.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.
9.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.
10.The effect of systematic rehabilitation in promoting rehabilitation in patients with massive rotator cuff in-jury after arthroscopic repairi
Junying FAN ; Qiang HUANG ; Xiaohua LIU
Chinese Journal of Rehabilitation Medicine 2024;39(12):1818-1822
Objective:To explore the effectiveness of systematic rehabilitation training in promoting the recovery of pa-tients with massive rotator cuff injury after arthroscopic repair.Method:A total of 90 cases with massive rotator cuff injury undergoing arthroscopic rotator cuff repair were retrospectively included from May 2018 to May 2022.Patients who could adhere to weekly postoperative sys-tematic rehabilitation therapy were selected as the treatment group(n=47),utilizing the rehabilitation program from Beijing Jishuitan Hopsital.Those who only received routine rehabilitation guidance postoperatively were se-lected as the control group(n=43).General data were analyzed and patients were compared for psychological state scores,Constant-Murley shoulder scale and satisfaction levels 6 months after surgery.The range of mo-tion(ROM)of active forward flexion,abduction and extemal rotation of shoulder were tested at 7 weeks,3 months and 6 months after operation in both group.Result:There was no significant difference between two groups in Constant Murley scores before operation(P>0.05).There were significant differences 6 months after operation(P<0.05),the treatment group had higher scores than the control group in Constant Murley scores(P<0.05).At 7 weeks,3 months and 6 months after operation,ROM of shoulder in the treatment group were better than that in the control group(P<0.05).Conclusion:Systematic and individual rehabilitation training for patients after arthroscopic repair of massive ro-tator cuff can effectively restore the function of shoulder joint,improve the psychological states and increases treatment satisfaction.

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