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.

To summarize the nursing experience of a patient with uremia on maintenance hemodialysis complicated by recurrent ventricular tachycardia and treated with transcatheter radiofrequency ablation.Key nursing interventions included:dynamically assessing the patient's coagulation and bleeding status,being vigilant against the occurrence of deep vein thrombosis,and preventing local and major organ bleeding;implementing goal-oriented volume management strategies to prevent electrolyte disorders;the strengthened management of vascular access to reduce risks of stenosis or occlusion in the arteriovenous fistula;conducting precise assessment and comprehensive intervention to reduce the patient's psychological and mental burden.After careful treatment and nursing care,the patient was stable and discharged on the 6th postoperative day.During the 2-month outpatient follow-up,cardiac function indicators were normal,and the fistula was unobstructed,and the patient recovered well.

Objective To explore the potential categories of psychosocial adaptation in psoriasis patients and their differences in social alienation.Methods Using a cross-sectional survey design,convenience sam-pling was used to select 376 psoriasis patients from multiple hospitals in Shandong Province from September to December 2022.Participants completed the general information questionnaire,Psychosocial Adaptation to Illness Scale(PAIS-SR),Acceptance and Action Questionnaire-Ⅱ(AAQ-2),and General Alienation Scale(GAS).Latent profile analysis was performed using Mplus8.0 software to identify psychosocial adaptation patterns of psoriasis patients,and SPSS25.0 was used to compare social alienation differences among different adaptation groups.Results Psoriasis patients could be divided into two latent profiles:moderate psychosocial adaptation group(31.38％)and low psychosocial adaptation group(68.62％).Medical payment method,dis-ease recurrence,psoriasis subtype,disease duration,family history,skin lesion exposure,and AAQ-2 scores were identified as main influencing factors(P＜0.05).Significant differences in total GAS scores were found between the two groups(P＜0.05).Conclusion The psychosocial adaptation of psoriasis patients shows het-erogeneity and could be classified into two latent profiles.Targeted interventions should be implemented to improve psychosocial adaptation levels.

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.

Objective This study aimed to assess the clinical utility of combining the Controlling Nutri-tional Status(CONUT)score with the Prognostic Nutritional Index(PNI)for evaluating anemia risk in elderly colorectal cancer patients and to establish a risk prediction model.Methods A total of 661 elderly colorectal cancer patients treated at Xinjiang Uygur Autonomous Region People's Hospital from July 2018 to March 2025 were included in this retrospective study.Patients were categorized into anemic and non-anemic groups and randomly assigned to a training set and validation set at a 7:3 ratio.The XGBoost algorithm was applied to develop a predictive model for anemia risk,and its performance was assessed using the receiver operating characteristic(ROC)curve.SHAP value visualization,and other methods.Results Among the 661 patients,257(38.9％)were diagnosed with anemia.Compared with the non-anemic group,patients in the anemic group had significantly lower levels of PNI and albumin,but higher CONUT scores and blood urea nitrogen levels.Additionally,the anemic group had higher proportions of tumor diameter≥5 cm,poorly differentiated tumors,and stage Ⅲ-Ⅳ disease(all P<0.05).The XGBoost model demonstrated good discriminatory ability,with an AUC of 0.897(95％CI:0.868～0.925).SHAP value analysis identified PNI,CONUT score,albumin,blood urea nitrogen,TNM stage,tumor differentiation,and tumor size as major contributing variables.PNI and albumin were protective factors,whereas CONUT score,blood urea nitrogen,and tumor-related features were risk factors.Conclusion Nutritional indicators such as PNI and CONUT score,along with tumor characteristics,can effectively predict the risk of anemia in elderly patients with colorectal cancer.The XGBoost-based predictive model demonstrates high discriminatory power and good inter-pretability,providing valuable support for early screening of high-risk patients and guiding individualized nutri-tional interventions and anemia management.

Objective This study aimed to assess the clinical utility of combining the Controlling Nutri-tional Status(CONUT)score with the Prognostic Nutritional Index(PNI)for evaluating anemia risk in elderly colorectal cancer patients and to establish a risk prediction model.Methods A total of 661 elderly colorectal cancer patients treated at Xinjiang Uygur Autonomous Region People's Hospital from July 2018 to March 2025 were included in this retrospective study.Patients were categorized into anemic and non-anemic groups and randomly assigned to a training set and validation set at a 7:3 ratio.The XGBoost algorithm was applied to develop a predictive model for anemia risk,and its performance was assessed using the receiver operating characteristic(ROC)curve.SHAP value visualization,and other methods.Results Among the 661 patients,257(38.9％)were diagnosed with anemia.Compared with the non-anemic group,patients in the anemic group had significantly lower levels of PNI and albumin,but higher CONUT scores and blood urea nitrogen levels.Additionally,the anemic group had higher proportions of tumor diameter≥5 cm,poorly differentiated tumors,and stage Ⅲ-Ⅳ disease(all P<0.05).The XGBoost model demonstrated good discriminatory ability,with an AUC of 0.897(95％CI:0.868～0.925).SHAP value analysis identified PNI,CONUT score,albumin,blood urea nitrogen,TNM stage,tumor differentiation,and tumor size as major contributing variables.PNI and albumin were protective factors,whereas CONUT score,blood urea nitrogen,and tumor-related features were risk factors.Conclusion Nutritional indicators such as PNI and CONUT score,along with tumor characteristics,can effectively predict the risk of anemia in elderly patients with colorectal cancer.The XGBoost-based predictive model demonstrates high discriminatory power and good inter-pretability,providing valuable support for early screening of high-risk patients and guiding individualized nutri-tional interventions and anemia management.

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

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.

To summarize the nursing experience of a patient with uremia on maintenance hemodialysis complicated by recurrent ventricular tachycardia and treated with transcatheter radiofrequency ablation.Key nursing interventions included:dynamically assessing the patient's coagulation and bleeding status,being vigilant against the occurrence of deep vein thrombosis,and preventing local and major organ bleeding;implementing goal-oriented volume management strategies to prevent electrolyte disorders;the strengthened management of vascular access to reduce risks of stenosis or occlusion in the arteriovenous fistula;conducting precise assessment and comprehensive intervention to reduce the patient's psychological and mental burden.After careful treatment and nursing care,the patient was stable and discharged on the 6th postoperative day.During the 2-month outpatient follow-up,cardiac function indicators were normal,and the fistula was unobstructed,and the patient recovered well.

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.