OBJECTIVE: To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism. METHODS: DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software. RESULTS: Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father. CONCLUSION The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Child ; Congenital Hypothyroidism ; diagnosis ; genetics ; Dual Oxidases ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense

The apphcation of radioactive seeds implantation in treatment of malignant solid tumor of the abdomen has been 18 years in China.The teatment is applied by more and more hospitals,however,the operation procedure is not the same in each hospital,which affected the therapeutic effect of radioactive seeds implantation,and means more safety risks.This paper summarizes the operation procedures of radioactive seeds implantation in treatment of malignant solid tumor of the abdomen,and minimizes the loopholes in clinical operation,in order to improve the therapeutic effect and reduce the safety risks.

Objective:To conduct visual analysis of literature related to workplace violence in emergency nursing and to explore the development status, research hotspots and trends of this field in recent years, so as to provide a reference for future related research in China.Methods:Literature related to workplace violence in emergency nursing was retrieved from the Web of Science database from 2008 to 2020, and visualized maps were generated and analyzed by CiteSpace V software.Results:A total of 511 articles were screened. From 2008 to 2020, the number of publications on workplace violence in emergency nursing was increasing. The United States was at the core of research in this field, accounting for 38.55% (197/511) . Highly cited journals were mainly from the field of nursing, and the Journal of Emergency Nursing was cited 175 times. The high-frequency keywords were "workplace violence" "emergency department" "nurse", etc., and the emergent words were "workplace" "abuse" "population", etc.. Conclusions:In order to promote the development of researches on workplace violence in emergency nursing in China, future researchers should strengthen cooperation with international research institutions and pay attention to research results of authoritative journals. At the same time, they should improve strategies for preventing workplace violence, and improve the professional quality and humanistic care capabilities of emergency nurses.

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

Objective:To investigate the incidence of adhesive intestinal obstruction after resection of colon cancer and analyze its risk factors.Methods:Three hundred and sixty-three colon cancer patients who underwent colon cancer resection in Affiliated Hospital of Weifang Medical University from March 2016 to September 2019 were selected as the research objects, including 189 male and 174 female, aged from 45 to 75 years old, with the average of (62.36±10.69) years. Postoperative outpatient follow-up for 6 months to record the incidence of adhesive intestinal obstruction in patients after colon cancer resection. According to the occurrence of adhesive intestinal obstruction, they were divided into occurrence group and non-occurring group. The general data, laboratory data and pathological data of the two groups of patients were compared. Logistic regression was used to analyze the risk factors of adhesive intestinal obstruction after colon cancer resection.Results:As of the last follow-up time on March 23, 2020, a total of 13 patients were lost to follow-up due to different reasons. A total of 350 patients completed the follow-up, and 350 patients were finally included. The incidence of adhesive intestinal obstruction after colon cancer resection was 22.29% (78/350), these 78 patients were defined as the occurrence group, and the other 272 patients without adhesive intestinal obstruction were regarded as the non-occurrence group. There were statistically significant differences in age, comorbid diabetes, surgical methods, operation time, tumor differentiation, and lymphatic metastasis between the occurrence group and the non-occurring group ( χ2=275.397, P<0.001; χ2=52.574, P<0.001; χ2=137.931, P<0.001; χ2=48.419, P<0.001; χ2=2.099, P=0.036; χ2=36.073, P<0.001); multivariate logistic regression analysis showed that age>60 years old ( OR=41.113), complicated with diabetes ( OR=0.055), open surgery ( OR=21.913), long operation time ( OR=25.069), high degree of tumor differentiation ( OR=0.109), lymphatic metastasis ( OR=0.068) are the adhesive bowel after colon cancer resection Risk factors for obstruction. Conclusions:The incidence of bowel function after colon cancer resection was 22.29%. Age, operation method, operation time, comorbidities, tumor differentiation degree, and lymphatic metastasis are the influencing factors of adhesive intestinal obstruction after colon cancer resection, and should be treated in the treatment process. Focus on preventing the occurrence of adhesive intestinal obstruction after colon cancer resection.

OBJECTIVE: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease. METHODS: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing. RESULTS: The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother. CONCLUSION The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.
Asian Continental Ancestry Group ; DNA ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic ; Male ; Mutation

Objective:To investigate the related risk factors of surgical appendectomy after endoscopic retrograde appendicitis therapy (ERAT) in children.Methods:From September 2019 to November 2023 at the Children's Hospital Affiliated to Shandong University,the data from all related children with appendectomy after ERAT were analyzed. The general situation and main clinical manifestations of the children were collected. According to the effect of ERAT,the patients were divided into transfer to surgical group and appendicitis recurrence group by the reasons and time of transfer to surgical treatment. The indexes such as ERAT and reoperation process and pathological types of appendix after operation were collected,and the clinical experience was summarized.Results:Among the 242 children who underwent ERAT,32 cases underwent appendectomy again,including 19 males and 13 females,with an average age of（9.16±2.77）years,and the reoperation rate was 13.2%. The clinical manifestation was abdominal pain (32 cases,100.0%),mainly right lower abdominal pain (28 cases,87.5%),and the main duration was less than 3 months (30 cases,93.8%). Abdominal ultrasound or CT before ERAT mainly indicated appendicitis (11 cases,34.4%) and appendicitis complicated with appendiceal calculus (11 cases,34.4%). There were 9 children in transferred to surgical group,of which 5 cases were transferred to surgery because of ERAT intubation failure,and 4 cases were transferred to surgery because of appendix perforation or abscess. Postoperative pathology showed acute suppurative appendicitis in 5 cases and acute gangrenous appendicitis in 4 cases. There were 23 children in appendicitis recurrence group,whose abdominal pain was relieved after ERAT,but their symptoms were repeated after discharge. After clinical evaluation,they were diagnosed as recurrent appendicitis and underwent surgical appendectomy. Most of them were reoperated within 6 months after ERAT (21 cases,91.3%).Postoperative pathology was mainly chronic appendicitis (10 cases,43.5%).Conclusion:Acute suppurative appendicitis and acute gangrenous appendicitis are prone to catheterization or endoscopic failure during ERAT,and there is a high risk of surgical transfer. ERAT may relieve the symptoms of chronic appendicitis in children. If the symptoms are repeated,surgery is still needed to remove the appendix.

Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother-child pairs of ASD children and 30 matched mother-child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother-child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
Adult ; Animals ; Autism Spectrum Disorder ; microbiology ; Bacteria ; classification ; genetics ; isolation & purification ; Biomarkers ; Child ; Child, Preschool ; Cohort Studies ; Female ; Gastrointestinal Microbiome ; Humans ; Male ; Mice ; Mothers ; Risk Assessment