ObjectiveTo analyze the research hotpots and development trends of international nursing ethical decision-making in the past 10 years by bibliometric methods. MethodsLiterature related to nursing ethical decision-making published in the Web of Science core collection database from 2014 to 2023 was retrieved. VOSviewer 1.6.18 software was utilized to visually present and analyze data regarding the number of publications， journal sources， countries of origin， author information， research institutions， key terms， co-cited references， and others. ResultsA total of 149 articles were included， involving 85 source journals， of which Nursing Ethics and BMC Medical Ethics were the most prolific. The number of publications on nursing ethical decision-making showed an overall upward trend， with the United States leading other countries in the number of publications. These publications involved 567 authors from 302 research institutions， and the degree of inter-institutional collaboration was relatively low. Keyword clustering， timeline overlay， and density analysis revealed that current research hotspots and trends included the ethical issues and decision-making in clinical nursing practice， the ethical decision-making level and competence of university nursing undergraduates， the ethical decision-making of nursing managers， and ethical decision-making dilemmas encountered by nursing staff during public health emergencies. ConclusionResearch on nursing ethical decision-making is gradually deepening but remains fragmented， lacking sustainability and collaboration. The ethical decision-making levels and competencies of university nursing students， as well as the field of ethical decision-making among nursing managers， may emerge as novel research hotspots in the future. Henceforth， it is necessary to strengthen in-depth exchanges among authors and institutions， pay close attention to international research frontiers， and enhance both the depth and breadth of research.

Objective:To explore the clinical, genetic, and therapeutic prognostic characteristics of two pediatric cases of Lesch-Nyhan syndrome (LNS) in order to enhance understanding of this disease and investigate more effective treatment strategies.Methods:Clinical data were collected from two children clinically diagnosed with LNS who were treated at Anhui Provincial Children′s Hospital from April 2023 to January 2024. Data were collected retrospectively and included clinical manifestations (symptoms, signs, laboratory and imaging findings), treatment course, and follow-up results. Peripheral venous blood samples (2 mL each) were obtained from children 1 and his parents. Whole-exome sequencing (WES) was performed. Candidate variants were validated by Sanger sequencing to confirm the genetic etiology.Standard bioinformatic analysis of the raw WES data was conducted, including quality control, alignment, variant calling, and annotation. Candidate pathogenic variants were filtered using population frequency databases (e.g., gnomAD), disease databases (e.g., OMIM, ClinVar), and multiple in silico pathogenicity prediction tools (e.g., SIFT, PolyPhen-2, CADD). Phenotype matching was integrated using Human Phenotype Ontology (HPO) terms. Pathogenicity classification of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (2015). This study was approved by the Medical Ethics Committee of Anhui Children′s Hospital, Children′s Hospital of Fudan University (Approval No.: EYLL-2014-027).Results:Case 1, a 4-year-old boy presented with "developmental delay for over 3 years, accompanied by abnormal postures and involuntary lip-biting". Physical examination revealed limb dystonia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant in the HPRT1 gene, c. 135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, confirming the diagnosis of LNS. This variant was absent from population databases (gnomAD, 1000 Genomes, dbSNP). Protein function prediction tools consistently indicated pathogenic or likely pathogenic variant (SIFT, PolyPhen-2, CADD, and REVEL scores all reached pathogenic thresholds). Protein structural modeling revealed that the mutation disrupts the hydrogen-bonding network, compromising tetramer stability. ACMG classification designated it as likely pathogenic (PM1 + PM2_Supporting + PM5 + PP3). The patient was treated with benhaxol hydrochloride, baclofen, and clonazepam to improve neurological symptoms, and also received treatment with febuxostat in the nephrology department to manage purine metabolism. After one year of follow-up, the patient′s abnormal posture showed slight improvement, self-injurious behavior persisted but was managed with protective gloves, blood uric acid levels normalized, and renal stones decreased. Case 2, a 13-year-old boy was hospitalized in the nephrology department due to a urinary tract infection. Following successful infection treatment, his limb dystonia worsened, leading to his transfer to the neurology ward. The patient had a history of delayed motor and language development, abnormal postures, and lip-biting self-injurious behavior, with elevated blood uric acid levels, leading to an LNS diagnosis. The parents declined genetic testing due to financial constraints. Following discharge, the patient did not adhere to the prescribed medication regimen or attend scheduled outpatient visits. The patient had died by the time of the 4-month follow-up contact. Conclusion:HPRT1 gene variants are the genetic cause of LNS in children, and the HPRT1 gene is the only known pathogenic gene for LNS. Early genetic diagnosis, strict adherence to multidisciplinary comprehensive treatment, and intensive intervention for self-injurious behaviors are crucial for improving the quality of life and prolonging survival in children with LNS.

OBJECTIVE: To explore the clinical, genetic, therapeutic and prognostic characteristics of two children with Lesch-Nyhan syndrome (LNS) in order to enhance understanding of this disease and formulate more effective therapeutic strategies. METHODS: Clinical data were collected from two children clinically diagnosed with LNS who were treated at Anhui Provincial Children's Hospital from April 2023 to January 2024. Data were retrospectively collected and included clinical manifestations (symptoms, signs, laboratory and imaging findings), treatment course, and results of follow-up. Peripheral venous blood samples were obtained from child 1 and his parents. Whole-exome sequencing (WES) was performed. Candidate variants were validated by Sanger sequencing. Standard bioinformatic analysis of the raw WES data was conducted, including quality control, alignment, variant calling, and annotation. Candidate pathogenic variants were filtered using population frequency databases (e.g., gnomAD), disease databases (e.g., OMIM, ClinVar), and multiple in silico pathogenicity prediction tools (e.g., SIFT, PolyPhen-2, CADD). Phenotype matching was integrated using Human Phenotype Ontology (HPO) terms. Pathogenicity classification of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (2015). This study was approved by the Medical Ethics Committee of Anhui Children's Hospital, Children's Hospital of Fudan University (Ethics No.: EYLL-2014-027). RESULTS: Child 1, a 4-year-old boy, had presented with developmental delay for over 3 years, accompanied by abnormal postures and involuntary lip-biting. Physical examination revealed limb dystonia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant of the HPRT1 gene, c.135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, which confirmed the diagnosis of LNS. This variant was absent from population databases (gnomAD, 1000 Genomes, dbSNP). Protein function prediction tools consistently indicated it as a pathogenic or likely pathogenic variant (SIFT, PolyPhen-2, CADD, and REVEL scores all reached pathogenic thresholds). Protein structural modeling revealed that the variant may disrupt the hydrogen-bonding network compromising the tetramer stability. ACMG classification designated it as likely pathogenic (PM1+PM2_Supporting+PM5+PP3). The patient was treated with benhaxol hydrochloride, baclofen, and clonazepam to improve his neurological symptoms, in addition with treatment with febuxostat from the Nephrology Department to manage his purine metabolism. After one year of follow-up, the patient's abnormal posture showed slight improvement, self-injurious behavior persisted but was managed with protective gloves, blood uric acid levels normalized, and renal stones decreased. Case 2, a 13-year-old boy, was hospitalized to the Nephrology Department due to urinary tract infection. Following successful control of the infection, his limb dystonia has worsened, leading to his transfer to the Neurology Ward. The patient had a history of delayed motor and language development, abnormal postures, and lip-biting self-injurious behavior, with elevated blood uric acid levels, leading to the diagnosis of LNS. His parents had declined genetic testing due to financial constraints. Following discharge, the patient did not adhere to the prescribed medication regimen or attend scheduled outpatient visits. The patient had died by the time of the 4-month follow-up contact. CONCLUSION Variants of the HPRT1 gene probably underlay the LNS in the two children, and the HPRT1 is the only known pathogenic gene for LNS. Early genetic diagnosis, strict adherence to multidisciplinary comprehensive treatment, and intensive intervention for self-injurious behaviors are crucial for improving the quality of life and prolonging the survival of children with LNS.
Humans ; Male ; Lesch-Nyhan Syndrome/diagnosis* ; Exome Sequencing ; Child, Preschool ; Phenotype ; Infant ; Child ; Female ; Retrospective Studies ; Mutation

ObjectiveTo learn the inner experience of decisions to seek medical attention among patients with ischemic stroke and to explore the factors that affect patients’ early decisions to seek medical attention， providing a basis for formulating intervention measures to reduce patient delays. MethodsUsing qualitative research methods， semi-structured in-depth interviews were conducted with 24 patients with ischemic stroke who had delayed seeking medical attention through purposive sampling， and the data were analyzed by category analysis method. ResultsThe five major themes that affected ischemic stroke patients’ decisions to seek medical attention were symptom experience （insufficient attention to disease and the impact of symptoms on the patients）， symptom assessment （symptom perception， symptom interpretation， and symptom recognition）， symptom response （psychological denial and self-relief）， prior knowledge of the diseases （deficient knowledge and stroke experience）， as well as environmental-social factors （morbidity context， external information support， and medical insurance）. ConclusionUnder the guidance of cognitive， psychosocial， and environmental frameworks， targeted intervention strategies should be proposed to reduce the incidence of delayed decisions to seek medical attention among patients with ischemic stroke.

Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.

Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective:To explore the clinical, genetic, and therapeutic prognostic characteristics of two pediatric cases of Lesch-Nyhan syndrome (LNS) in order to enhance understanding of this disease and investigate more effective treatment strategies.Methods:Clinical data were collected from two children clinically diagnosed with LNS who were treated at Anhui Provincial Children′s Hospital from April 2023 to January 2024. Data were collected retrospectively and included clinical manifestations (symptoms, signs, laboratory and imaging findings), treatment course, and follow-up results. Peripheral venous blood samples (2 mL each) were obtained from children 1 and his parents. Whole-exome sequencing (WES) was performed. Candidate variants were validated by Sanger sequencing to confirm the genetic etiology.Standard bioinformatic analysis of the raw WES data was conducted, including quality control, alignment, variant calling, and annotation. Candidate pathogenic variants were filtered using population frequency databases (e.g., gnomAD), disease databases (e.g., OMIM, ClinVar), and multiple in silico pathogenicity prediction tools (e.g., SIFT, PolyPhen-2, CADD). Phenotype matching was integrated using Human Phenotype Ontology (HPO) terms. Pathogenicity classification of variants was performed according to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants (2015). This study was approved by the Medical Ethics Committee of Anhui Children′s Hospital, Children′s Hospital of Fudan University (Approval No.: EYLL-2014-027).Results:Case 1, a 4-year-old boy presented with "developmental delay for over 3 years, accompanied by abnormal postures and involuntary lip-biting". Physical examination revealed limb dystonia, anxious expression, lower lip damage, and communication difficulties. Laboratory tests showed hyperuricemia and renal stones. Genetic testing identified a hemizygote variant in the HPRT1 gene, c. 135G>T (p.Arg45Ser), inherited from an asymptomatic carrier mother, confirming the diagnosis of LNS. This variant was absent from population databases (gnomAD, 1000 Genomes, dbSNP). Protein function prediction tools consistently indicated pathogenic or likely pathogenic variant (SIFT, PolyPhen-2, CADD, and REVEL scores all reached pathogenic thresholds). Protein structural modeling revealed that the mutation disrupts the hydrogen-bonding network, compromising tetramer stability. ACMG classification designated it as likely pathogenic (PM1 + PM2_Supporting + PM5 + PP3). The patient was treated with benhaxol hydrochloride, baclofen, and clonazepam to improve neurological symptoms, and also received treatment with febuxostat in the nephrology department to manage purine metabolism. After one year of follow-up, the patient′s abnormal posture showed slight improvement, self-injurious behavior persisted but was managed with protective gloves, blood uric acid levels normalized, and renal stones decreased. Case 2, a 13-year-old boy was hospitalized in the nephrology department due to a urinary tract infection. Following successful infection treatment, his limb dystonia worsened, leading to his transfer to the neurology ward. The patient had a history of delayed motor and language development, abnormal postures, and lip-biting self-injurious behavior, with elevated blood uric acid levels, leading to an LNS diagnosis. The parents declined genetic testing due to financial constraints. Following discharge, the patient did not adhere to the prescribed medication regimen or attend scheduled outpatient visits. The patient had died by the time of the 4-month follow-up contact. Conclusion:HPRT1 gene variants are the genetic cause of LNS in children, and the HPRT1 gene is the only known pathogenic gene for LNS. Early genetic diagnosis, strict adherence to multidisciplinary comprehensive treatment, and intensive intervention for self-injurious behaviors are crucial for improving the quality of life and prolonging survival in children with LNS.

Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.

Objective:To investigate the clinical characteristics of encephalocraniocutaneous lipomatosis (ECCL) in pediatric patients.Methods:A retrospective analysis was conducted on the clinical data of 2 ECCL cases admitted to Children′s Hospital Affiliated to Zhengzhou University between January 2024 and December 2024. Additionally, a review of relevant literature was performed to summarize the clinical features of this condition.Results:Case 1 is a male patient aged 2 years and 10 months, while case 2 is a female patient aged 8 months. Both patients presented with seizures and exhibited nevus psiloliparus on the scalp, non-scarring alopecia, nodular skin tags around the eyes, and ocular choristomas. Brain magnetic resonance imaging revealed leptomeningeal angiomatosis in both cases, with case 1 also demonstrating an intracranial lipoma and case 2 showing localized cerebral atrophy and an arachnoid cyst. Whole-exome sequencing of peripheral blood and copy number variation analysis in both cases did not identify any pathogenic variants. Additionally, no relevant pathogenic variants were detected in the scalp lesion tissue of case 2. A review of the literature revealed that, to date, there have been 5 reported domestic cases, 132 reported foreign cases in pediatric populations, totally 139 cases including 2 cases described in this article. Among these patients, 86 are male, 49 are female, and the gender of 4 cases remains unspecified. Clinical manifestations observed included seizures in 79.0% (64/81) of cases and developmental delay in 64.7% (57/88). Cutaneous lesions were characterized by non-scarring alopecia in 100% (97/97) of cases,non-hair-bearing fatty tissue nevi in 98.3% (58/59), nodular skin tags in 96.5% (56/58), and subcutaneous lipomas in 94.8% (73/77). Ocular lesions predominantly involved choristomas, occurring in 91.8% (90/98) of cases. Central nervous system abnormalities were identified as ventricular dilatation or hydrocephalus in 85.0% (68/80) of cases, intracranial lipomas in 82.1% (69/84), localized cerebral atrophy in 80.9% (34/42), intracranial vascular anomalies in 74.1% (23/31), and spinal lipomas in 66.6% (30/45).Conclusions:ECCL is an uncommon neurocutaneous disorder with the potential to impact various organ systems, notably the integumentary, ocular, and central nervous systems. Pediatric patients may exhibit symptoms such as seizures, developmental delays, and additional clinical manifestations, necessitating vigilant monitoring and management.

Objective To investigate the clinical effect of bone melon extract(BME)combined with lornoxicam(LN)in elderly patients after total hip arthroplasty.Methods Elderly patients with femoral neck fracture attending the Department of Orthopedics of Xixi Hospital in Hangzhou City from January 2020 to June 2023 were retrospectively selected as study subjects.According to different postoperative treatment programs,they were divided into the BME group(LN combined with BME treatment)and the LN group(LN treatment).The visual analog scores(VAS)and Oswestry dysfunction index questionnaire(ODI)scores of patients in the two groups preoperatively and postoperatively,the changes of inflammatory factors[C-reactive protein(CRP),interleukin-6(IL-6),and tumor necrosis factor-α(TNF-α)]before surgery and 4 weeks after surgery,and the clinical efficacy of patients in the two groups preoperatively and at 6 months postoperatively,the hip joint function(Harris score),daily living ability[Barthel index(BI)]and quality of life[Mos36-Item Short Form Health Survey(SF-36)]were compared.Results A total of 100 patients were included in the study,with 56 in the BME group and 44 in the LN group.Before treatment,the differences in VAS scores,ODI scores,inflammatory factors,Harris scores,BI and SF-36 between the two groups were not statistically significant(P＞0.05).After treatment,VAS scores,ODI scores,CRP,IL-6 and TNF-αdecreased significantly in both groups compared with those before treatment(P＜0.05);and these indicators in the BME group were lower than those in the LN group(P＜0.05).In terms of therapeutic efficacy,the therapeutic efficiency of the BME group was significantly higher than that of the LN group(P＜0.05).Harris scores,BI and SF-36 significantly increased in both groups(P＜0.05),and these in the BME group were greater than those in the LN group(P＜0.05).Conclusion Compared with LN treatment alone,BME combined with LN can promote rapid recovery in elderly patients after total hip arthroplasty.