Objective:To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. Methods:Four patients diagnosed with PMS at Guangzhou Women and Children′s Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Guangzhou Women′s and Children′s Medical Center Liuzhou Hospital (Ethics No. 2025-007).Results:All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 kb to 112.64 kb, primarily involving the SHANK3 gene. Conclusion:PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. METHODS: Four patients diagnosed with PMS at Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Hospital (Ethics No. 2025-007). RESULTS: All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 Kb to 112.64 Kb, primarily involving the SHANK3 gene. CONCLUSION PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.
Child ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Exome Sequencing ; Nerve Tissue Proteins/genetics* ; Phenotype

Objective To investigate the healing effect of electrical stimulation in the treatment of infected pressure injury in rats.Methods Twenty-four male SD rats were divided into blank group,model group and electrical stimulation group by random number ta-ble method.The infected pressure injury model of stage 3 was established by magnet external compression and observed for 2 weeks.The model group healed naturally,and the electrical stimulation group underwent electroacupuncture.The wound areas of rats were measured on the 1st,3rd,5th,7th,10th and 14th days after modeling,the wound healing rate was calculated,and the experimental wound assess-ment tool(EWAT)scores on the 3rd,7th and 14th days were evaluated.On the 7th and 14th days,hematoxylin-eosin staining and Masson staining were used to observe the pathological changes of wound skin tissue,and the expression levels of inducible nitric oxide syn-thase(INOS),CD206,CD31 andα-smooth muscle actin(α-SMA)antibodies were measured by fluorescent staining.Results The wound healing rate of the electrical stimulation group were higher than that in the model group at the 3rd,5th,7th,10th and 14th days of treatment,and the difference were statistically significant(P＜0.05).The EWAT scores of wounds in the electrical stimulation group were lower than that in the model group at the 3rd,7th and 14th days,and the difference were statistically significant(P＜0.05).Tissue morphology observation showed that electrical stimulation reduced wound inflammation,promoted capillary production and collagen deposi-tion,and accelerated epithelial crawling.Compared with the model group,electrical stimulation treatment reduced the expression level of INOS antibody and increased the expression levels of CD206 antibody,α-SMA antibody and CD31 antibody,and the difference was sta-tistically significant(P＜0.05).Conclusion Electrical stimulation can effectively promote the healing of infected wounds in rats with stage 3 pressure injury,promotes macrophage polarization and vascular reconstruction.

Objective To investigate the healing effect of electrical stimulation in the treatment of infected pressure injury in rats.Methods Twenty-four male SD rats were divided into blank group,model group and electrical stimulation group by random number ta-ble method.The infected pressure injury model of stage 3 was established by magnet external compression and observed for 2 weeks.The model group healed naturally,and the electrical stimulation group underwent electroacupuncture.The wound areas of rats were measured on the 1st,3rd,5th,7th,10th and 14th days after modeling,the wound healing rate was calculated,and the experimental wound assess-ment tool(EWAT)scores on the 3rd,7th and 14th days were evaluated.On the 7th and 14th days,hematoxylin-eosin staining and Masson staining were used to observe the pathological changes of wound skin tissue,and the expression levels of inducible nitric oxide syn-thase(INOS),CD206,CD31 andα-smooth muscle actin(α-SMA)antibodies were measured by fluorescent staining.Results The wound healing rate of the electrical stimulation group were higher than that in the model group at the 3rd,5th,7th,10th and 14th days of treatment,and the difference were statistically significant(P＜0.05).The EWAT scores of wounds in the electrical stimulation group were lower than that in the model group at the 3rd,7th and 14th days,and the difference were statistically significant(P＜0.05).Tissue morphology observation showed that electrical stimulation reduced wound inflammation,promoted capillary production and collagen deposi-tion,and accelerated epithelial crawling.Compared with the model group,electrical stimulation treatment reduced the expression level of INOS antibody and increased the expression levels of CD206 antibody,α-SMA antibody and CD31 antibody,and the difference was sta-tistically significant(P＜0.05).Conclusion Electrical stimulation can effectively promote the healing of infected wounds in rats with stage 3 pressure injury,promotes macrophage polarization and vascular reconstruction.

Objective:To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. Methods:Four patients diagnosed with PMS at Guangzhou Women and Children′s Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Guangzhou Women′s and Children′s Medical Center Liuzhou Hospital (Ethics No. 2025-007).Results:All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 kb to 112.64 kb, primarily involving the SHANK3 gene. Conclusion:PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.

Objective:To explore the research hotspots and trends of risk prediction models in nursing at home and abroad.Methods:The visual analysis software CiteSpace was used, and the Web of Science was used as the data source. The publication situation of the risk prediction model in nursing was visually analyzed, mainly including time distribution, country/research institution cooperation network, journal collinear network, co-citation, keywords and emerging words.Results:A total of 684 articles were included. The number of publications on the risk prediction in nursing was on the rise. The United States was the country that contributed the most to the number of publications, and China ranked second. The Journal of Advanced Nursing was the most published journal. In terms of institutions and authors, the cooperation was not close. Research hotspots mainly focused on pressure injuries, falls, and nurses' burnout. Adverse event prediction, patient prognosis and intelligent data mining were the key research directions. Conclusions:Compared with international ones, the research on nursing risk prediction in China still needs to be strengthened. Future research can broaden the direction, perfect the existing model and carry out verification and improvement, so as to provide a good reference for nursing work.

Mood disorders/psychosis have been associated with dysfunctions in the default mode network (DMN). However, the relative contributions of DMN regions to state and trait disturbances in pediatric bipolar disorder (PBD) remain unclear. The aim of this study was to investigate the possible mechanisms of PBD through brain imaging and explore the influence of psychotic symptoms on functional alterations in PBD patients. Twenty-nine psychotic and 26 non-psychotic PBD patients, as well as 19 age- and sex-matched healthy controls underwent a resting-state functional MRI scan and the data were analyzed by independent component analysis. The DMN component from the fMRI data was extracted for each participant. Spearman's rank correlation analysis was performed between aberrant connectivity and clinical measurements. The results demonstrated that psychotic PBD was characterized by aberrant DMN connectivity in the anterior cingulate cortex/medial prefrontal cortex, bilateral caudate nucleus, bilateral angular gyri, and left middle temporal gyrus, while non-psychotic PBD was not, suggesting further impairment with the development of psychosis. In summary, we demonstrated unique impairment in DMN functional connectivity in the psychotic PBD group. These specific neuroanatomical abnormalities may shed light on the underlying pathophysiology and presentation of PBD.

[ ABSTRACT] AIM:To investigate the effect of the overexpression of voltage-gated chloride channel family protein 3 ( ClC-3) gene on bones of mice .METHODS: The tail gene detection assay was used to confirm the overexpression of ClC-3.The male FVB mice of three months old were divided into two groups , the wild type ( WT) group and the ClC-3 overexpressed (ClC-3 transgene) group.The body weight, length and weight of the right tibias were measured .The upper and middle parts of the tibias were dissected , decalcified, paraffin-imbed, sectioned and stained with HE staining .The bone morphology metrology was used to analyze the changes of bone structures .The percent trabecular area (%Tb.Ar), trabecular number ( Tb.N) , trabecular width ( Tb.Wi) and trabecular separation ( Tb.Sp) of cancellous bone in the upper part of the tibia were measured.The total tissue area (T.Ar), cortical area (Ct.Ar), percent cortical area (%Ct.Ar), marrow area ( Ma.Ar) and percent marrow area (%Ma.Ar) of the cortical bone in the middle part of the tibia were detec-ted .RESULTS:The wild type mice and the ClC-3-overexpressed mice were verified by the tail gene detection assay . Compared with WT group , the body weight and the length and weight of the tibia were decreased in ClC -3 transgene mice (P<0.05).In the cancellous bones of ClC-3 transgene mice, the%Tb.Ar and Tb.Wi were decreased (P<0.05), the Tb.Sp was increased (P<0.05) and the Tb.N was not significantly changed .In the cortical bones of ClC-3 transgene mice, the T.Ar, Ct.Ar and%Ct.Ar were decreased (P<0.05), the%Ma.Ar was increased (P<0.05), and the Ma. Ar was not significantly changed .CONCLUSION:ClC-3 overexpression may lead to the reduction of the bone mass and the destructure of the cancellous and cortical bones .The results suggest that ClC-3 may be involved in the regulation of bone resorption and/or formation.

Aim To investigate the roles of chloride channels in the apoptosis and apoptotic volume de-crease (AVD)induced by adriamycin in nasopharyn-geal carcinoma CNE-2Z cells.Methods Apoptotic rates were detected by flow cytometry,and the volume changes were measured by the time-lapse live cell ima-ging technique.The patch clamp technique was used to record whole-cell chloride currents.Results Adria-mycin induced apoptosis of CNE-2Z cells.An early ap-optotic volume decrease was observed in the cell trea-ted with adriamycin.The cell volume was decreased by about 10% in 2 h.Adriamycin activated a chloride current which showed outward rectification.The chlo-ride channel blocker 5-nitro-2-(3-phenylpropylamino)-benzoate (NPPB ) could inhibit the adriamycin-in-duced chloride currents,apoptosis and prevent cell shrinkage.Conclusions Our findings suggest that ad-riamycin causes cell apoptosis by activation of chloride channels.Chloride channels may be involved in the apoptosis and apoptotic volume decrease induced by adriamycin in CNE-2Z cells.

Aim To clarify the effect of Borneol on the chloride channels and cell volume in poorly differentia-ted nasopharyngeal carcinoma CNE-2Z cells.Methods The technique of whole-cell patch clamp was used to detect the chloride currents and analyze the character-istics of the currents in CNE-2Z cells.The volume changes caused by Borneol were measured by the meth-od of time-lapse live cell imaging.Results The chlo-ride currents were induced by extracellular application of Borneol (20 μmol·L -1 )isotonic condition.The currents showed a characteristic of outward rectification and did not show voltage-dependent or time-dependent inactivation.The reversal potential of the currents was close to the CI-equilibrium potential. The currents were inhibited by the chloride channel blocker tamox-ifen.The currents were also inhibited by 47% hyper-tonic solution.Borneol decreased the cell volume by 9.4% in 30 min.Tamoxifen completely inhibited the Borneol-induced cell volume decrease.Conclusion Borneol can activate volume-sensitive chloride channels and induce volume decrease in CNE-2Z cells.Chloride channels play a pivotal role in the process of volume decrease caused by Borneol.