OBJECTIVE: To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. METHODS: A child who was admitted to Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100). RESULTS: The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c.1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PS2+PM2_supporting). CONCLUSION The c.1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.
Humans ; SOXD Transcription Factors/genetics* ; Male ; Infant ; Exome Sequencing ; Genetic Testing ; Mutation

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with neurodevelopmental disorder caused by homozygous frameshift variant of the TRAPPC6B gene, and to provide reference for the diagnosis of the disease. METHODS: A child with neurodevelopmental disorder caused by homozygous variant of TRAPPC6B gene who was admitted to the Children's Hospital Affiliated to Zhengzhou University in March 2023 due to "inability to stand and walk independently at 1 year and 3 months old" was selected as the study object. The clinical data were collected by retrospective analysis method. Target region high-throughput sequencing was carried out on the child and parental peripheral blood samples, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The pathogenicity of variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as ACMG guidelines). The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethic No.2022-K-L025). RESULTS: The child was a 1-year-and-3-months-old boy whose parents were sib mating. The child presented with global developmental delay, microcephaly and short stature. MRI showed poor white matter myelination, abnormal signals of bilateral periventricular white matter and bilateral external sac, thin corpus callosum, and widening of the third ventricle. Genetic testing revealed that the TRAPPC6B gene of the child had a homozygous variant of c.240_241delAA (p.Q80Hfs*34), which was inherited from his parents. According to the ACMG guidelines, this variant was judged to be potentially pathogenic (PVS1_Strong+PM2_Supporting+PM3_Supporting), resulting in premature occurrence of terminator codons and a change in the three-dimensional structure of protein. The variant was located in the functional domain, which may directly affect the functional domain of the protein, resulting in functional domain defects. CONCLUSION The frameshift variation of TRAPPC6B gene c.240_241delAA (p.Q80Hfs*34) has not been reported, which may be the genetic cause of neurodevelopmental disorders in child in this study. These findings expand the variation spectrum of TRAPPC6B gene and provide basis for genetic counseling and prenatal diagnosis of this family.
Humans ; Infant ; Male ; Frameshift Mutation ; Homozygote ; Neurodevelopmental Disorders/genetics* ; Phenotype

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Osteopathia striata with cranial sclerosis (OSCS) due to variant of AMER1 gene. METHODS: A child presented at the Affiliated Children's Hospital of Zhengzhou University in July 2024 due to growth and development retardation was selected as the study subject. A retrospective study was conducted to collect the child's clinical data. Peripheral blood samples (2 mL each) were collected from the child and her parents, and genomic DNA was extracted for whole exome sequencing (WES). Sanger sequencing was used for the verification of candidate variants. The pathogenicity of variant was rated according to the guidelines from American College of Medical Genetics and Genomics (ACMG). The study has been approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No.: 2024-108-001). RESULTS: The patient, a 4-year-and-10-month-old girl, presented with global developmental delay, short stature, cleft palate, distinct facial features, and hearing impairment. WES revealed that she has harbored a heterozygous c.790_794dup (p.Cys265Trpfs*19) variant of the AMER1 gene, which was not detected in either parent. Based on the guidelines from ACMG, the gene variant was classified as pathogenic (PVS1 + PS2 + PM2_supporting). As the result of a non-triplet base insertion in the coding region of the AMER1 gene, it has converted a codon originally encoding an amino acid into a stop codon, and led to a truncated protein, causing severe alteration and dysfunction of the protein. CONCLUSION The child was diagnosed with OSCS for clinical features such as global developmental delay, short stature, cleft palate, distinctive facial features, and hearing impairment, for which the de novo heterozygous frameshift variant AMER1: c.790_794dup (p.Cys265Trpfs*19) may be accountable. Above finding has expanded the mutational spectrum of OSCS and provided a basis for genetic counseling and prenatal diagnosis for the family.
Humans ; Female ; Child, Preschool ; Osteosclerosis/genetics* ; Adaptor Proteins, Signal Transducing/genetics* ; Mutation ; Exome Sequencing ; Retrospective Studies ; Tumor Suppressor Proteins

Abstract OBJECTIVE To explore the reliability and validity of the Chinese version of the Morisky scale(including guardian version and minor version) applied in assessing medication adherence of children with inflammatory bowel disease, and to clarify the current status and features of medication adherence in children. METHODS The 141 children with inflammatory bowel disease were studied, and collect data through on-site distribution and collection of questionnaires using the Chinese version of the Morisky scale as an evaluation tool. Cronbach's a and factor analysis were used to evaluate the internal consistency and construct validity of scales, respectively, and Spearman test was used to evaluate the correlation between medication adherence and disease severity in children. RESULTS The internal consistency of guardian and minor version of Morisky scale determined by Cronbach's a were 0.701 and 0.738, respectively, while factor analysis indicated that the two scales were all composed of three factors which could explain 67.94% and 72.24% of total variance contribution rate, respectively. The adherence score of the 141 children was 6.75(4.75, 8.0). Among them, 58(41.1%), 39(27.7%) and 44(31.2%) children had poor, moderate and good medication adherence respectively; significant negative correlation was found between children's medication adherence and their disease severity(Rs=-0.286, P=0.001). CONCLUSION Both the guardian and minor version of the Chinese-version Morisky scale exhibit good reliability and validity in evaluating medication adherence in children with inflammatory bowel disease, thus can be applied to evaluate medication adherence in children. Nearly half of the children with inflammatory bowel disease have poor medication adherence, while forgetting to take medicine is the main barrier, and significant negative correlation is found between children's medication adherence and their disease severity, high attention should be given to clinical practice.

Objective:To construct and implement a multidisciplinary pain management model during the perioperative period based on the project-achieving quality control circle, so as to improve the quality of patient pain management during the perioperative period.Methods:Using the convenient sampling, 310 surgical patients from the Department of Gastrointestinal Surgery, Hepatobiliary Surgery, Thoracic Surgery, Urology Surgery and Joint Surgery of Liaocheng People's Hospital from June to July 2020 were taken as the pre-improvement group, and the routine perioperative pain management model was implemented. Starting from August 2020, a project-achieving quality control circle was carried out, following the steps of theme selection, topic clarification, goal setting, formulation of strategies, investigation of the best strategies, implementation of strategies, and confirmation of effectiveness, to implement a multidisciplinary pain management model during the perioperative period. A total of 310 surgical patients admitted to 5 departments from February to March 2021 were included in the improvement group.Results:The implementation rate of multidisciplinary pain management plan, the rate of out-of-bed activity within 24 hours after surgery, the rate of excellent postoperative rehabilitation compliance, and the average sleep score of patients in the improvement group all increased, with statistical differences ( P<0.05). After improvement, the awareness rate of pain knowledge among medical and nursing staff, the accuracy rate of nurses' rest and active pain assessment records, and the score of nurse pain knowledge all increased, and the differences were statistically significant ( P<0.05) . Conclusions:The construction and implementation of a multidisciplinary pain management model during the perioperative period based on the project-achieving quality control circle can effectively improve the quality of pain management for surgical patients, accelerate patient recovery, and improve the pain management of medical and nursing staff.

Objective:To explore the value of 5G-based robotic remote ultrasound diagnosis system in musculoskeletal joint injuries.Methods:From March to December 2020, 58 volunteers at a training base who felt musculoskeletal pain or paresthesia were selected and performed both robotic remote ultrasound (remote ultrasound group) and conventional ultrasound (portable ultrasound group). The two types of examinations were compared, the consistency of the two diagnosis results was analyzed by the Kappa test, and the the difference of the diagnosis results was compared by McNemar test.Results:Among the 58 volunteers, 40 cases were positive by both methods and 11 volunteers had 2-3 positive results. There were 59 positive results in the remote ultrasound group and 64 positive results in the portable ultrasound group. The positive rate of the examination sites from high to low was knee joint>foot and ankle joint >hand and wrist joint >shoulder joint>elbow joint, calf and hip. The diagnosis results of the two groups were in good consistency (Kappa=0.782, P<0.001), and there was no statistically significant difference in the diagnosis results between the two groups (χ 2=3.2, P=0.063). Five more diseases with positive results were detected in the portable ultrasound group: 1 meniscus injury, 1 medial collateral ligament injury, 1 soft tissue injury around the metatarsal, 1 biceps tendinitis with effusion and 1 cubital ulnar nerve subluxation. Conclusions:The 5G-based robotic remote ultrasound system has good consistency with conventional ultrasound in the diagnosis of musculoskeletal injures. It can be applied to the ultrasound diagnosis of musculoskeletal joint injuries in remote areas.

In this study, a neutral desorption-extractive electrospray ionization mass spectrometry ( ND-EESI-MS) method was developed for the direct and rapid detection of dichlorvos ( DDVP) in honey samples without any sample pretreatment procedure. Under the positive ionization mode, the main characteristic parent ion of DDVP was m/z 223 (MW:222) and daughter ions were m/z 109 and m/z127. Under the optimized working conditions, with the signal intensity of m/z 127 as quantitative index, the quantitative information of DDVP residues in honey was acquired effectively. The results showed that the linear range of DDVP for spiked honey was 5-1000 ng/mL (R2=0. 998) with the limit of detection (LOD) of 1. 0 ng/mL (n=3) and the recoveries for the DDVP spiked honey samples at the concentration levels of 10 , 30 and 400 ng/mL were 93 . 0%-103. 0%, with the relative standard deviations (RSDs, n=6) of less than 4. 4%. Meanwhile, for detection of spiked honey with gas chromatography-flame photometric detector ( GC-FPD ) , the linear range was 5-1000 ng/mL (R2=0. 999) with the LOD of 1. 6 ng/mL(n=3), and the recoveries of DDVP at the spiked honey concentration levels of 10 , 30 and 400 ng/mL were 94 . 9%-110 . 3%, with the RSDs of less than 7. 6%.

Liquid-assisted surface desorption atmospheric pressure chemical ionization mass spectrometry (LA-DAPCI-MS)was used directly for the analysis of healthy rat liver (normal control group);acute alcoholic injury rat liver(alcohol model group)and Zhizi Dahuang decoction-treated rat liver (ZZDHD group)sections with the mass spectrometry images obtained simultaneously.Principal component analysis (PCA)was employed for the differentiation of livers of the groups;and 3 phospholipids;PC (34 ∶2);PC(36 ∶4)and PC(38 ∶4);were found to be the main factors.LA-DAPCI mass spectrometry images showed that the 3 phospholipids were evenly distrib-uted in liver under the spatial resolution of 0.01 mm2.Contents of 3 PCs in the model group were decreased in alcohol model group compared to the normal control group and the ZZDHD group;which revealed the relationship between acute alcoholic liver injury and intrahepatic phospholipid variation.The results showed that ZZDHD had protective effect on acute alcoholic liver injury-induced intrahepatic phospholipid variations at the molecular level.

Objective To develop a brachtherapy (BT) dose calculation program based on AAPM TG-43UI formula.With this program we can combine the dose result of external beam radiotherapy (EBRT) and BT together which is calculated by the different treatment planning TPS.Methods BT treatment data, such as source parameter, dwelling position and dwelling time, are retrieved from Nucletron Plato planning system and converted to ADAC planning system coordinate.The BT 3D dose distribution is re-calculated as well.Then the 3D dose distribution is exported to ADAC planning system.In that way, ADAC planning system can display either the EBRT dose or the BT dose and the combined dose can be calculated, displayed and evaluated as well.Results BT dose calculation result of our program which based on AAPM TG-43UI formula is identical with which of Plato (<0.1%).Furthermore, the BT dose can be transfer to the ADAC easily and the dose distributions of combined therapy can be merged in ADAC.Conclusions Our program can be used to combine the dose result of EBRT and BT from different TPS.

In this study, the mechanism by which Ad-p27mt inhibits the growth, invasion and metastasis of transplanted liver tumor was studied by examining the effects of Ad-27mt gene transfer on the expression of Bax, Bcl-2, VEGF and MMP-9 in the transplanted liver tumors in nude mice. The model of transplanted hepatic tumor was established in nude mice. The mice were then divided into three groups, which were injected with PBS, Ad-LacZ and Ad-p27mt and the growth of the transplanted liver tumor was observed. The expressions of P27, Bax and Bcl-2 proteins were detected by Western blotting and the expressions of VEGF and MMP-9 were immunohistochemically determined. Our result showed that the tumor size, expressions of Bax, Bcl-2 proteins, VEGF and MMP-9 were all lower than those in PBS and Ad-LacZ groups and the differences were statistically significant (P<0.05). Our study suggested that Ad-p27mt could inhibit the growth, invasion and metastasis of hepatic cancer by lowering the expressions of VEGF and MMP-9.