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 features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. METHODS: A child diagnosed with 3MS type 1 at the Children's Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020). RESULTS: The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. WES revealed compound heterozygous variants in the CUL7 gene: c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child's father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c.2686G>T (p.E896) was classified as a pathogenic (PVS1+PM2_Supporting+PM3), and c.1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+PM2_Supporting). Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). CONCLUSION The compound heterozygous variants c.2686G>T (p.E896*) and c.1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.
Humans ; Cullin Proteins/genetics* ; Female ; Child ; Limb Deformities, Congenital/genetics* ; Exome Sequencing ; Mutation ; Child, Preschool ; Dwarfism ; Muscle Hypotonia ; Spine/abnormalities*

Objective To compare the effectiveness of transnasal humidified rapid-insufflation ventilatory exchange(THRIVE)and conventional mask oxygen in treating patients with hypoxemia in the post-anesthesia care unit(PACU).Methods A total of 144 patients with immediate pulse oxygen saturation(SpO2)less than 95％following general anesthesia were selected at Beijing Tongren Hos-pital,Capital Medical University from June to December 2023.Patients were randomly divided into the THRIVE group(n=72)and the mask group(n=72),patients in the THRIVE group received oxygen therapy,and patients in the mask group received oxygen therapy.Continuous electrocardiogram monitoring was used.The SpO2 at different time points,the duration in PACU,and patient satisfaction be-tween the two groups were compared.Results The SpO2 of the THRIVE group after 1 minute of oxygenation was 98.40％±1.65％,which was significantly higher than that of the mask group 96.72％±1.87％,the difference was statistically significant(P＜0.05).The duration in PACU of the THRIVE group was 36.76±15.46min,which was significantly shorter than that of the mask group(44.38±21.73min),the difference was statistically significant(P＜0.05).There was no significant difference in SpO2 after returning to the ward between the two groups(P＞0.05).The satisfaction score of patients in the THRIVE group(18.31±1.00 points)was significantly higher than that in the mask group(17.46±1.17 points),the difference was statistically significant(P＜0.05).Conclusion THRIVE treatment for hypoxemia is significantly more effective than traditional mask oxygen therapy in the PACU.THRIVE effectively improves ox-ygenation,enhances the turnover rate in PACU,and increases the satisfaction of patient,and provides a more effective treatment approach for post-anesthesia hypoxemia.

Objective:To investigate the mechanism of dexmetomidine (DEX) in improving lung injury in septic mice.Methods:Male C57BL/6 mice were randomly assigned to the blank group (NC), sham operation group (sham), cecal ligation and puncture group (CLP), and Dex treatment group (CLP+DEX), 36 mice per group. Mice in the CLP group were intraperitoneally injected with 1 mL sterile saline 15 min before CLP, and mice in the CLP + DEX group were intraperitoneally injected with 50 μg/kg DEX 15 min before CLP. The survival rate was recorded within 24 h after CLP. The mice were sacrificed at 0, 3, 6, 12, and 24 h after CLP, and lung tissues were collected. The expression levels of cytokines (IL-6, IL-1β, TNF-α) and lncRNA-HOTAIR in the lung of mice were detected by qPCR. RAW264.7 cell were cultured in vitro, LPS (100 ng/mL) and DEX (1 μ mol/L) were used to establish a cell model for studying the mechanism of Dex, and the expression of cytokines (IL-6, IL-1β, TNF-α) and lncRNA-HOTAIR in RAW264.7 cell model were detected by qPCR. In addition, the effect of lncRNA-HOTAIR on sepsis was explored in vivo and in vitro by knockdown or overexpression of HOTAIR.Results:The survival rate of the CLP+DEX group was higher than that of the CLP group within 24 h after surgery, and the levels of IL-6, IL-1β, and TNF-α in the lungs were significantly lower than those in the CLP group at 6, 12, and 24 h after surgery ( P<0.05). In addition, the level of lncRNA HOTAIR showed that the expression level of lncRNA HOTAIR in the lungs of mice were decreased after Dex treatment, and were decreased 1.1 times ( P<0.05), 4.0 times ( P<0.01) and 3.8 times ( P<0.01) at 6, 12, and 24 h, respectively. Compared with the NC group, knockdown of HOTAIR significantly decreased the levels of IL-1β, IL-6, and TNF-α in septic mice ( P<0.05), and overexpression of HOTAIR significantly increased the levels of IL-1β, IL-6, and TNF-α in septic mice ( P<0.01). Conclusions:DEX can reduce the production of inflammatory factors in the lungs of septic mice and improve the survival rate of septic mice. The mechanism may be related to the inhibition of HOTAIR expression.

ObjectiveTo investigate the effect of anodal transcranial direct current stimulation (atDCS) combined with contralaterally controlled functional electrical stimulation (CCFES) on upper limb motor function of stroke patients. MethodsFrom January to December, 2022, 60 stroke patients from Zhejiang Provincial People's Hospital were randomly divided into atDCS group (n = 20), CCFES group (n = 20) and combined group (n = 20). All the groups accepted routine rehabilitation, while atDCS group accepted atDCS on the primary motor (M1) area of the damaged hemisphere, CCFES group accepted CCFES on the triceps brachii and extensors carpi muscles, and the combined group accepted atDCS on the M1 area of damaged hemisphere and CCFES on triceps brachii and extensors carpi muscles, for six weeks. They were assessed with Fugl-Meyer Assessment-Upper Extremities (FMA-UE), Wolf Motor Function Test (WMFT), and the electromyography root mean square (RMS) ratio of bilateral triceps brachii muscles and extensor carpi muscles, before and after treatment. ResultsThe FMA-UE score, WMFT score, and the RMS ratio of the triceps brachii muscles and extensor carpi muscles improved in all the groups after treatment (|t| > 5.007, P < 0.001), and improved the most in the combined group (F > 14.492, P < 0.001). ConclusionatDCS combined with CCFES can effectively improve upper limb motor function of stroke patients.

Objective:To evaluate the systemic involvement, outcome and other disease characteristics of children with systemic lupus erythematosus (cSLE), and to explore the prognostic factors.Methods:cSLE treated in Beijing Children′s Hospital, Capital Medical University from January 1, 2016 to December 31, 2017 were enrolled in this study.Medical records including clinical manifestations and evaluation of affected systems, autoantibodies, treatment adjustment, and follow-up were collected and analyzed retrospectively.SPSS 21.0 was used for statistical analysis and mapping.The prognostic factors were studied by the Cox proportional risk regression model.Results:A total of 210 children were included, including 37 males and 173 females, with a male to female ratio of 1.0∶4.7.The average age of onset was (121.39±30.44) months.There were 167 (79.5%) patients with skin and mucous membrane damage, 137(65.2%) patients with blood system damage, 129(61.4%) patients with digestive system damage, 123(58.6%) patients with kidney damage, 119(56.7%) patients with skeletal and musculoskeletal system damage, 71(33.8%) patients with nervous system damage, 68(32.4%) patients with heart damage, and 60(28.6%) patients with respiratory system damage.The 90.95%(191/210) of the children enrolled presented moderate or high disease activity at the first visit.The effective rate was 76.92% (150/195) after 1-month follow-up and 96.95% (159/164) after 1-year follow-up.A high level of compliment C 3 was a protective factor for disease remission.The glucocorticoid level was declined to 5 mg or less in 42 children, and the median time was 40.5 (36.0, 42.0) months.Young onset age and no renal damage were protective factors for glucocorticoid reduction. Conclusions:cSLE tends to occur in female children with multiple involved systems and severe conditions.After reasonable treatment and follow-up, the disease can be alleviated or improved in one year.A high level of complement C 3 at the beginning of disease is conducive to rapid remission of the disease, and the young age of onset and no renal damage is conducive to rapid glucocorticoid reduction.

Objective:To demonstrate the clinical significance of group A streptococcal infection (GAS) in patients with enthesitis related arthritis (ERA).Methods:A retrospective study was conducted on ERA (136) and PolyRF-/Oligo juvenile idiopathic arthritis (JIA) (272) patients in Beijing Children's Hospital from 2016 to 2018. Anti-streptococcal hemolysin "O" (ASO) was tested and documented in all patients. The infection rate of GAS was compared between patients with ERA and PolyRF-/Oligo JIA. Patients with ERA were divided to two groups according to the result of ASO (ASO positive and ASO negative). All the clinical data were documented and compared within the two groups. The statistical methods used mainly include t test, rank sum test, chi-square test, and Spearman correlation analysis.Results:The GAS infection rate of patients with ERA was higher than patients with PolyRF-/Oligo JIA (17.6% vs 9.5%, χ2=5.52, P=0.019). In ERA patients, clinical data were analyzed, and a statistical significant difference was observed in the presence of human leukocyte antigen (HLA)-B27 between ASO positive and ASO negative group [75.0%(18/24) vs 49.1%(55/112), χ2=5.329, P=0.021]. Statistical differences were found in Patrick's sign positive rate between the two groups [100%(24/24) vs 67.0%(75/112), χ2=10.61, P=0.001]. There was statistically significant difference between the two groups regarding the radiogr-aphic grading at the sacroiliac joint. More patients with positive ASO had grade Ⅲ damage at the sacroiliac joint compare to patients with negative ASO [68.2%(15/22) vs 28.4%(29/102), χ2=12.49, P<0.001]. The logarithmic of the ASO was slightly correlated with the radiographic grade of sacroiliac joint ( r=0.26, P=0.005). Conclusion:Patients with ERA are prone to be infected by GAS. It's probably related to HLA-B27 postivity for antigen presentation. Patients who were infected by GAS fre-quently have sacroiliac joint involvement, and tend to be more sever. This indicates that GAS may play an important role in the pathogenesis of sacroiliac joint destruction.

OBJECTIVE：To analyze the distribution and drug resistance of bloodstream infection pathogens in a Children’s Hospital from Zhengzhou，and to provide reference rational selection of drugs in anti-infective treatment. METHODS：By retrospective analysis，128 318 blood culture specimens were collected from inpatients in the Affiliated Children’s Hospital of Zhengzhou University from Oct. 2014 to Sept. 2019. The positive rate，clinical symptoms and clinical diagnosis of children with bloodstream infection were analyzed statistically. WHONET 5.6 software was used to analyze pathogenic bacteria of positive specimen，the departments and the resistance of pathogens to the main clinical antibiotics. RESULTS：In 128 318 blood culture samples of inpatients，the positive rate was 2.14％ （2 746/128 318）；among 2 746 blood culture positive sample，the main Symptom of childrem with blood stream infection was fever（1 986/2 746）；main clinical diagnosis included sepsis（1 679/2 746）， bronchopneumonia（858/2 746），purulent meningitis（555/2 746）. The main departments included neonatal diagnosis and treatment center （1 090 strains，accounting for 39.69％） [neonatal intensive care unit （279 strains，accounting for 10.16％），neonatal surgery department （223 strains，accounting for 8.12％），neonatal internal medicine department （209 strains，accounting for 7.61％），infant pediatrics department（200 strains，accounting for 7.28％） and premature pediatrics department（179 strains， accounting for 6.52％）]，hematology oncology department （216 strains，accounting for 7.87％），cardio vascular medicine department（206 strains，accounting for 7.50％）. Gram-positive bacteria accounted for 72.80％，Gram-negative bacteria 24.21％， fugus 2.99％. Among Gram-positive bacteria，coagulase negative staphylococcus（1 414 strains）and Staphylococcus aureus（146 strains）were the most common. The resistance rate of the former to penicillin G，oxacillin and erythromycin was more than 80％， and that of the latter to penicillin G and erythromycin was more than 80％. Among Gram-negative bacteria，Klebsiella pneumoniae （183 strains） and Escherichia coli （172 strains） were the most common. The resistance rates of the former to ampicillin， piperacillin，ampicillin/sulbactam and cefazolin were more than 80％，and the latter to ampicillin and tetracycline were more than 80％. Among the fungus，Candida albicans（42 strains）and Candida parapsilosis（22 strains）were the most common，and the resistance rate to common antifungal drugs was less than 10％. CONCLUSIONS：The pathogens of bloodstream infection in the hospital are complex，mainly coagulase negative staphylococcus and K. pneumoniae，and the drug resistance is severe.

Objective: Application of Clinical and Laboratory Standards Institute evaluation protocols-12 approved guideline 2^nd edition (CLSI EP12-A2) and EP15-A2 documents in the performance evaluation of Adenovirus IgM CLIA microparticles. Methods: Referring to the EP15-A2 method , three samples of high and low concentration were selected. Each sample test was repeated 4 times one day for 5 days, and the total imprecision was calculated. Referring to the EP12-A2 method , samples of C₅₀, C₅₀-20% and C₅₀+ 20% were prepared and repeated 40 times, to verify C₅₀±20% bounds the C₅~C₉₅ interval. Compared with diagnostic accuracy criteria, the sensitivity and specificity were calculated. Compared with ELISA method , the concordance rate and Kappa value were calculated. Results: The total imprecision CV (%) was less than 8%, lower than that announced by manufacturer. C50±20% concentration fall outside the C5~C95 interval. Compared with diagnostic accuracy criteria, the sensitivity was 100% (95%CI: 79.6%~100%), specificity was 97.8% (95%CI: 94.5%~99.1%), Kappa value was 0.871. Compared with ELISA method , the positive concordance rate was 66.7%(95%CI: 53.6%~77.7%), negative concordance rate was 97.4%(95%CI: 95.4%~98.5%)total concordance rate was 93.9%(95%CI: 91.6%~95.6%), Kappa value was 0.678. Conclusions The performance of Adenovirus IgM CLIA microparticles can meet clinical requirements.

The analysis of big data in medical field cannot be isolated from the high quality clinical database, and the construction of first aid database in our country is still in the early stage of exploration. This paper introduces the idea and key technology of the construction of multi-parameter first aid database. By combining emergency business flow with information flow, an emergency data integration model was designed with reference to the architecture of the Medical Information Mart for Intensive Care III (MIMIC-III), created by Computational Physiology Laboratory of Massachusetts Institute of Technology (MIT), and a high-quality first-aid database was built. The database currently covers 22 941 medical records for 19 814 different patients from May 2015 to October 2017, including relatively complete information on physiology, biochemistry, treatment, examination, nursing, etc. And based on the database, the first First-Aid Big Data Datathon event, which 13 teams from all over the country participated in, was launched. The First-Aid database provides a reference for the construction and application of clinical database in China. And it could provide powerful data support for scientific research, clinical decision making and the improvement of medical quality, which will further promote secondary analysis of clinical data in our country.
Big Data ; Critical Care ; Databases, Factual ; Humans ; Medical Informatics