OBJECTIVE: To investigate the clinical and genetic characteristics of a Chinese pedigree affected with Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) due to variant of WASF1 gene, and to review the literature on NEDALVS associated with WASF1 gene variants. METHODS: A 4-year-and-8-month-old boy with NEDALVS diagnosed at Linyi People's Hospital in July 2024 due to "discovering language development delay for more than 2 years" and his family members were selected as the study subjects. Clinical data of the family members were collected. Peripheral venous blood samples were collected from family members. Whole-exome sequencing (WES) was performed, and candidate variants were verified, by Sanger sequencing. Pathogenicity of candidate variant was classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG). Using the MUpro website, SWISS-MODEL, PyMOL, Clustal X, PolyPhen-2, and Mutation Taster software, bioinformatics analysis of protein three-dimensional structure modeling for gene mutations, cross-species conservation of mutant amino acids, and pathogenicity prediction of mutation sites. Relevant literature was retrieved from databases such as CNKI, Wanfang Data Knowledge Service Platform, and PubMed, and the clinical phenotypes and genotypes of patients with WASF1 gene mutations reported in the literature were summarized and analyzed. This study was approved by the Medical Ethics Committee of Linyi People's Hospital (Ethics No.: YX200303). RESULTS: The proband, a 4-year and 8-month-old male, mainly presented with delayed language and motor development, accompanied by autistic behaviors; the proband's younger brother was 2 years and 7 months old at the time of consultation, mainly presented with delayed language and motor development, accompanied by short stature; the proband's mother mainly presents with limited language expression and poor interpersonal interaction; the proband's maternal grandmother mainly presents with soliloquizing?behavior. The results of WES showed that the proband carried a heterozygous mutation c.214C>T (p.Arg72Cys) in the WASF1 gene, and this site has not been recorded in the database. Sanger sequencing confirmed that the proband's younger brother, mother, and maternal grandmother had harbored the same variant. Based on the guidelines from the ACMG, this variant was rated as likely pathogenic (PM2_Supporting+PP1+PP3+PP4). Through SWISS-MODEL homology modeling and PyMOL structure visualization analysis, it was further confirmed that this variant can lead to a decrease in protein stability. Amino acid sequence conservation analysis of the WASF1 protein using Clustal X software suggested that the c.214C>T (p.Arg72Cys) variant has caused replacement of a highly conserved amino acid. According to the results of PolyPhen-2 and Mutation Taster, the p.Arg72Cys variant was predicted to be a hazardous. By following the retrieval strategy set in this study, a total of 5 research articles regarding to patients with NEDALVS caused by WASF1 gene mutations were retrieved, which involved 15 patients. Combining the proband and their family members discovered in this study, there were a total of 19 NEDALVS patients. The main clinical features included: motor developmental delay (100%, 17/17), language/intellectual developmental delay (100%, 17/17), epilepsy (64.7%, 11/17), autistic behavior (76.5%, 13/17), hypotonia (70.6%, 12/17), abnormal electroencephalogram (64.7%, 11/17), and short stature (17.6%, 3/17). All 19 patients had heterozygous mutations, with 8 mutation sites. Missense mutations were the most common, accounting for 84.2% (16/19). CONCLUSION A pathogenic variant of the WASF1 gene was identified in a pedigree affected with NEDALVS. Discovery of the novel variant has, expanded the mutational spectrum of the WASF1 gene.
Child, Preschool ; Female ; Humans ; Infant ; Male ; China ; Exome Sequencing ; Mutation ; Neurodevelopmental Disorders/genetics* ; Pedigree ; Seizures/genetics* ; East Asian People/genetics*

OBJECTIVE: To investigate the clinical and genetic characteristics of a family with Vissers-Bodmer Syndrome (VIBOS) and to review the relevant literature on VIBOS caused by CNOT1 gene variants. METHODS: A child diagnosed with VIBOS due to "growth retardation for over 6 years" at the Linyi People's Hospital on March 1, 2024 and her family members were selected as the study subjects. Clinical data of the family were collected. Peripheral venous blood samples were collected from the family members. Whole-exome sequencing (WES) was performed on the proband's peripheral blood, and Sanger sequencing was used for verification of the candidate variant in the family. Pathogenicity of the candidate variant was classified according to the "Standards and Guidelines for the Interpretation of Sequence Variants" established by the American College of Medical Genetics and Genomics American College of Medical Genetics (ACMG). Bioinformatics analysis, including pathogenicity prediction using Mutation Taster, three-dimensional protein structure modeling using SWISS-MODEL, and functional impact assessment using PyMOL, was performed. Relevant literature on VIBOS patients due to variants of the CNOT1 gene was retrieved from databases such as CNKI, Wanfang Data, and PubMed. The clinical phenotypes and genotypes of the patients were summarized. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: YX200303). RESULTS: The proband, a 6-year-and-7-month-old female, presented with short stature, distinctive facial features (esotropia, hypertelorism, prominent nasolabial folds), webbed neck, clinodactyly, and intellectual disability. WES revealed that she has carried a heterozygous c.736delG (p.V246*) variant of the CNOT1 gene, which was unreported previously. The proband's father exhibited borderline intellectual function but no short stature or distinctive facial features. Sanger sequencing confirmed that he has carried the same heterozygous variant. According to the ACMG guidelines, this genetic variant was predicted as "likely pathogenic" (PVS1+PM2_Supporting). The c.736delG (p.V246*) variant was predicted to have a deleterious effect by Mutation Taster. Subsequent homology modeling using SWISS-MODEL, coupled with structural visualization and comparison using PyMOL, confirmed that it may cause premature termination of translation and produce a truncated protein. Literature search has retrieved five articles on VIBOS due to CNOT1 gene variants, which included 45 cases. Together with the proband and her father, the common clinical features among these 47 patients included distinctive facial features (83.0%, 39/47), speech delay (70.2%, 33/47), motor delay (70.2%, 33/47), intellectual disability (59.6%, 28/47), and short stature (48.9%, 23/47). In terms of the types of the variants, missense variants were the most common (47.4%, 18/38), followed by frameshift variants (21.0%, 8/38). The variant sites have mainly located in exons 7, 25, and 31. No significant genotype-phenotype correlation was noted. CONCLUSION The c.736delG (p.V246*) frameshift variant of the CNOT1 gene is likely the genetic etiology of VIBOS in this proband. The clinical manifestations of the proband were more severe than in her fathers, which suggested phenotypic variability associated with this variant. This study has provided new evidence for the understanding of the genetic basis of VIBOS.
Child ; Female ; Humans ; Male ; Exome Sequencing ; Intellectual Disability/genetics* ; Mutation ; Pedigree ; Transcription Factors/genetics* ; East Asian People/genetics*

Objective:To screen potential comorbid genes shared between inflammatory bowel disease(IBD)and colorectal cancer(CRC),and to explore the relationship between the key gene a disintegrin and metalloprotease 8(ADAM8)and the pathogenesis of IBD and CRC,as well as the underlying mechanisms.Methods:Transcriptomic data and corresponding clinical information for IBD and CRC were downloaded from the GEO database and TCGA database.Differential expression analysis,prognostic gene screening,and intersection analysis were performed to identify shared genes.Multiple datasets were used to analyze and validate the expression patterns of ADAM8 in IBD and CRC and its correlation with clinicopathological features.Survival analysis was conducted to evaluate the prognostic value of ADAM8 in CRC.Functional and pathway enrichment analyses were conducted to explore the potential mechanisms by which ADAM8 influences CRC progression.The correlation between ADAM8 and tumor microenvironment components was further assessed using tumor microenvironmental algorithms.The database data was validated by detecting the expression in Chinese CRC tissues using immunohistochemistry(IHC).Results:ADAM8 was identified as a potential shared comorbidity gene in IBD and CRC.ADAM8 was significantly upregulated in both IBD and CRC tissues(all P<0.01),and its high expression was associated with disease progression(P<0.01).CRC patients with high ADAM8 expression had shorter overall survival(OS)(P<0.05 or P<0.01).ADAM8 was also significantly highly expressed in Chinese CRC tissues(P<0.01).Pathway analysis revealed that ADAM8 expression was closely linked to immune cell migration,cytokine production,and immune receptor interactions.Additionally,ADAM8 expression positively correlated with immune cell infiltration,including neutrophils and macrophages(P<0.01 or P<0.001).Conclusion:ADAM8 is highly expressed in IBD and CRC tissues and is closely associated with patient prognosis,disease progression,and immune cell infiltration.It holds promise as a common therapeutic target for both diseases.

Objective:To investigate the effects of radiofrequency technology combined with electrical stimulation biofeedback training on stress urinary incontinence in female patients.Methods:This is a prospective study that included 360 female patients with stress urinary incontinence who visited the Department of Gynecology and Obstetrics at Lianyungang Maternal and Child Health Hospital from June 2021 to June 2023. The patients were divided into three groups using a random number table method: a radiofrequency treatment group ( n = 120, treated with radiofrequency technology), an electrical stimulation treatment group ( n = 120, treated with electrical stimulation biofeedback training), and a combined treatment group ( n = 120, treated with a combination of radiofrequency technology and electrical stimulation biofeedback training). The clinical efficacy of the three groups was evaluated. Before and after treatment, a 1-hour pad test and urine test were conducted. The Incontinence Questionnaire-Urinary Incontinence Short Form was used to assess the surface electromyography values of the pelvic floor muscles in patients across the three groups. Results:The effective treatment rate in the combined treatment group was 87.50% (105/120), which was significantly higher than the rates in the radiofrequency treatment group (69.17%, 83/120) and the electrical stimulation treatment group (71.67%, 86/120) ( χ2 = 13.05, P < 0.05). After treatment, the 1-hour pad test showed that the urine leakage amounts and the Incontinence Questionnaire-Urinary Incontinence Short Form scores for the combined treatment group were (1.14 ± 0.16) g and (4.15 ± 0.48), respectively. In comparison, the values in the radiofrequency treatment group were (3.04 ± 0.42) g and (8.66 ± 0.89), while in the electrical stimulation treatment group they were (3.01 ± 0.39) g and (8.78 ± 0.91). Differences among the three groups were statistically significant ( F = 1 024.37, 1 354.96, all P < 0.05). After treatment, the surface electromyography values during the rapid contraction, sustained contraction, and endurance contraction phases for the combined treatment group were (31.97 ± 3.24) μV, (27.01 ± 3.02) μV, and (20.05 ± 2.11) μV, respectively. For the radiofrequency treatment group, the values were (27.85 ± 2.72) μV, (21.63 ± 2.39) μV, and (15.14 ± 1.63) μV, while the electrical stimulation treatment group showed values of (27.93 ± 2.75) μV, (22.04 ± 2.41) μV, and (15.39 ± 1.67) μV. Differences among the three groups were also statistically significant ( F = 78.49, 156.43, 278.16, all P < 0.05). Conclusions:Radiofrequency technology combined with electrical stimulation biofeedback training can substantially improve pelvic floor muscle strength and reduce urinary incontinence symptoms in female patients with stress urinary incontinence.

Objective:To investigate the effects of radiofrequency technology combined with electrical stimulation biofeedback training on stress urinary incontinence in female patients.Methods:This is a prospective study that included 360 female patients with stress urinary incontinence who visited the Department of Gynecology and Obstetrics at Lianyungang Maternal and Child Health Hospital from June 2021 to June 2023. The patients were divided into three groups using a random number table method: a radiofrequency treatment group ( n = 120, treated with radiofrequency technology), an electrical stimulation treatment group ( n = 120, treated with electrical stimulation biofeedback training), and a combined treatment group ( n = 120, treated with a combination of radiofrequency technology and electrical stimulation biofeedback training). The clinical efficacy of the three groups was evaluated. Before and after treatment, a 1-hour pad test and urine test were conducted. The Incontinence Questionnaire-Urinary Incontinence Short Form was used to assess the surface electromyography values of the pelvic floor muscles in patients across the three groups. Results:The effective treatment rate in the combined treatment group was 87.50% (105/120), which was significantly higher than the rates in the radiofrequency treatment group (69.17%, 83/120) and the electrical stimulation treatment group (71.67%, 86/120) ( χ2 = 13.05, P < 0.05). After treatment, the 1-hour pad test showed that the urine leakage amounts and the Incontinence Questionnaire-Urinary Incontinence Short Form scores for the combined treatment group were (1.14 ± 0.16) g and (4.15 ± 0.48), respectively. In comparison, the values in the radiofrequency treatment group were (3.04 ± 0.42) g and (8.66 ± 0.89), while in the electrical stimulation treatment group they were (3.01 ± 0.39) g and (8.78 ± 0.91). Differences among the three groups were statistically significant ( F = 1 024.37, 1 354.96, all P < 0.05). After treatment, the surface electromyography values during the rapid contraction, sustained contraction, and endurance contraction phases for the combined treatment group were (31.97 ± 3.24) μV, (27.01 ± 3.02) μV, and (20.05 ± 2.11) μV, respectively. For the radiofrequency treatment group, the values were (27.85 ± 2.72) μV, (21.63 ± 2.39) μV, and (15.14 ± 1.63) μV, while the electrical stimulation treatment group showed values of (27.93 ± 2.75) μV, (22.04 ± 2.41) μV, and (15.39 ± 1.67) μV. Differences among the three groups were also statistically significant ( F = 78.49, 156.43, 278.16, all P < 0.05). Conclusions:Radiofrequency technology combined with electrical stimulation biofeedback training can substantially improve pelvic floor muscle strength and reduce urinary incontinence symptoms in female patients with stress urinary incontinence.

Objective To analyze the definition of mobile health readiness,and provide a theoretical basis for assessment and clinical practice.Methods Web of Science,PubMed,Embase,Cochrane Library,CINAHL,CNKI,Wanfang data,VIP,and China Biomedical Literature Service System databases were searched.The search time limit was from the establishment of the database to January 2024.Walker and Avant's methods were used to perform concept analysis.Results As a result,38 articles were selected for analysis.Mobile health readiness can be classified into 4 defined attributes:willingness to adopt new technologies,digital health literacy,technological accessibility,and supporting environment and resources.Antecedents can be discussed from the aspects of digital gap,health care service,and user factors.Mobile health readiness can impact on users and health care systems.Conclusion The concept attributes of mobile health readiness were identified by concept analysis method,which provides references for community nurses to assess the mobile health readiness of users.In the future,researchers can combine the connotations of mobile health readiness to develop assessment tools,and construct interventions for the implementation of mobile health,thereby promoting the application of mobile health in China and the development of intelligent nursing.

Objective To analyze the definition of mobile health readiness,and provide a theoretical basis for assessment and clinical practice.Methods Web of Science,PubMed,Embase,Cochrane Library,CINAHL,CNKI,Wanfang data,VIP,and China Biomedical Literature Service System databases were searched.The search time limit was from the establishment of the database to January 2024.Walker and Avant's methods were used to perform concept analysis.Results As a result,38 articles were selected for analysis.Mobile health readiness can be classified into 4 defined attributes:willingness to adopt new technologies,digital health literacy,technological accessibility,and supporting environment and resources.Antecedents can be discussed from the aspects of digital gap,health care service,and user factors.Mobile health readiness can impact on users and health care systems.Conclusion The concept attributes of mobile health readiness were identified by concept analysis method,which provides references for community nurses to assess the mobile health readiness of users.In the future,researchers can combine the connotations of mobile health readiness to develop assessment tools,and construct interventions for the implementation of mobile health,thereby promoting the application of mobile health in China and the development of intelligent nursing.

Abstract Child abuse is a global public health problem, which has emerged as a neglected yet pressing issue in global development. Early and accurate identification of abuse at a lower-age group is of great significance for treatment, which might reduce the risk of re-maltreatment and promote children s physical and mental health development. Therefore, by reviewing the clinical characteristics, risk factors and existing abuse identification and screening tools of child abuse, the study aims at providing basic evidence for the development of child abuse risk identification tools and the establishment of child maltreatment system in China, so as to take timely intervention measures to prevent adverse outcomes or reduce their severity.

Objective:To summarize and discuss the surgical effect in otoplasty of prominent ear using cartilage folding with unilateral cartilage incision.Methods:Data of patients with prominent ear who were treated in the Department of Vascular and Plastic Surgery of Guangdong Provincial People’s Hospital and the Department of Plastic Surgery of Sun Yat-sen Memorial Hospital from May 2018 to April 2022 were retrospectively analyzed. All patients underwent otoplasty using cartilage folding with unilateral cartilage incision. During the operation, a unilateral cartilage incision was made along the lateral bottom of intended antihelix, cartilage dissection and scoring were made, and the cartilage was folded and sutured to form the antihelix. The patients were followed up postoperatively for auricular shape, wound healing and other complications.Results:A total of 18 patients with prominent ear (22 ears) were included, consisting of 12 males (15 ears) and 6 females (7 ears), aged from 18 to 51 years(average of 25.8 years). There were 9 cases on the left, 5 cases on the right and 4 cases on both sides. Four patients had pain in the operation area within 2 days postoperatively which could be relieved by analgesics. The patients were followed up for 1-24 months, with an average follow-up of 13.6 months. Twenty-two prominent ears were corrected. Scaphoconchal angle and cranioauricular angle of the prominent ears were significantly reduced, and the shape of the antihelix was smooth after the operation. All patients were satisfied with the results. There were no other complications after the operation, such as deformity relapse, infection, unhealing, auricular cartilage deformation and hypertrophic scar.Conclusions:Otoplasty of prominent ear using cartilage folding with unilateral cartilage incision is a simple, stable and satisfactory surgical method for the treatment of prominent ear.

Objective:To summarize and discuss the surgical effect in otoplasty of prominent ear using cartilage folding with unilateral cartilage incision.Methods:Data of patients with prominent ear who were treated in the Department of Vascular and Plastic Surgery of Guangdong Provincial People’s Hospital and the Department of Plastic Surgery of Sun Yat-sen Memorial Hospital from May 2018 to April 2022 were retrospectively analyzed. All patients underwent otoplasty using cartilage folding with unilateral cartilage incision. During the operation, a unilateral cartilage incision was made along the lateral bottom of intended antihelix, cartilage dissection and scoring were made, and the cartilage was folded and sutured to form the antihelix. The patients were followed up postoperatively for auricular shape, wound healing and other complications.Results:A total of 18 patients with prominent ear (22 ears) were included, consisting of 12 males (15 ears) and 6 females (7 ears), aged from 18 to 51 years(average of 25.8 years). There were 9 cases on the left, 5 cases on the right and 4 cases on both sides. Four patients had pain in the operation area within 2 days postoperatively which could be relieved by analgesics. The patients were followed up for 1-24 months, with an average follow-up of 13.6 months. Twenty-two prominent ears were corrected. Scaphoconchal angle and cranioauricular angle of the prominent ears were significantly reduced, and the shape of the antihelix was smooth after the operation. All patients were satisfied with the results. There were no other complications after the operation, such as deformity relapse, infection, unhealing, auricular cartilage deformation and hypertrophic scar.Conclusions:Otoplasty of prominent ear using cartilage folding with unilateral cartilage incision is a simple, stable and satisfactory surgical method for the treatment of prominent ear.