Objective: To evaluate the safety of the simultaneous administration of diphtheria, tetanus and acellular pertussis combined vaccine (DTaP) and group A and C meningococcal polysaccharide vaccine (MPSV-AC), so as to provide a scientific reference for vaccination strategies among school age children. Methods: Vaccination data and adverse reaction data for 2025 were collected from the Fujian Provincial Immunization Program Information Management System and the National Immunization Program Information System. The Chi-square test and Poisson regression model were used to compare the risk of adverse reactions between concurrent and separate vaccination. Results: In 2025, a total of 90 854 doses of DTaP were administered to children who turned 6 years old, with 107 adverse reactions reported, yielding an adverse reaction reporting rate of 117.77 per 100 000. A total of 95 913 doses of MPSV-AC were administered, with 50 adverse reactions reported, yielding an adverse reaction reporting rate of 52.13 per 100 000. All adverse reactions following DTaP and MPSV-AC vaccination in children were common reactions, predominantly local redness, swelling, and induration, with no reported abnormal reactions. The reported rate of common reactions was 112.91 per 100 000 in the concurrent DTaP+MPSV-AC group; in the separate groups, the reported rates of common reactions were 120.75 per 100 000 for DTaP and 17.92 per 100 000 for MPSV-AC, with statistically significant difference ( χ 2=46.23, P < 0.01 ). The risk of common adverse reactions in the simultaneous vaccination group did not differ significantly from that in the DTaP only group ( RR =1.07, P =0.74), but was significantly lower than that in the MPSV-AC only group ( RR =0.16, P <0.01). The risks of fever (11.58 per 100 000), pruritus, rash, myalgia, gastrointestinal symptoms, and other symptoms (23.16 per 100 000) in the simultaneous vaccination group were not significantly different from those in either single vaccine group ( RR-DTaP =0.92, 1.84, RR-MPSV-AC =0.56, 0.35, both P >0.05). The two most frequently reported reactions in both the simultaneous vaccination and DTaP only groups were local redness/swelling (95.54 per 100 000 and 117.20 per 100 000) and induration (31.85 per 100 000 and 42.62 per 100 000) at the injection site. In the simultaneous vaccination group, 92.50% of clinical symptoms occurred within 48 h, and the risks of occurrence at <24 h, 24-<48 h , and ≥48 h were not significantly different from those in the DTaP only group ( RR =1.00, 0.98, 1.43, all P >0.05). Conclusion The simultaneous administration of DTaP and MPSV-AC does not increase the risk of adverse reactions and may serve as a reference for administering both vaccines concurrently in children aged 6 years.

Objective To investigate the effects of preoperative oral electrolyte solution on intraoperative stress response and postoperative nausea and vomiting(PONV)in patients undergoing gynecological laparoscopic surgery.Methods From January to April 2025,200 cases of elective gynecological laparoscopic surgery due to benign diseases were selected and randomly divided into observation group and control group by the envelope method,with 100 cases in each group.The observation group orally took 5 ml/kg electrolyte solution(with a maximum dose of 300 ml)at 2 h before surgery,while the control group was fasted and prohibited from drinking at 2 h before the operation according to the traditional protocol.The mean arterial pressure(MAP),heart rate(HR),end-tidal CO2 partial pressure(PETCO2),Cerebral State Index(CSI),and pneumoperitoneum pressure were recorded at 6 time points:entering the room(T1),entering the laparoscope(T2),30 min after the start of the operation(T3),60 min after the start of the operation(T4),the end of the operation(T5),and 30 min after the operation(T6).The blood samples were taken at T3 and T6 to detect catecholamines(adrenaline,norepinephrine,dopamine),cortisol,and blood glucose levels.The recovery time of bowel sounds,anal exhaust time,and incidence of PONV within 2,6,and 12 h after surgery were recorded.Results There were no statistically significant differences in MAP,HR,PETCO2,CSI,and pneumoperitoneum pressure between the two groups(P＞0.05).The average levels of norepinephrine at T3 and T6 and blood glucose at T3 in the observation group were lower than those in the control group(P＜0.05).The incidence of PONV at 2,6,and 12 h after surgery,recovery time of bowel sounds,and anal exhaust time were all better in the observation group than those in the control group(P＜0.05).Conclusion Preoperative oral electrolyte solution can effectively alleviate the intraoperative stress response of gynecological laparoscopic surgery patients,reduce the incidence of PONV,promote the recovery of gastrointestinal function,and conform to the concept of Enhanced Recovery After Surgery(ERAS).

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a pedigree with Distal arthrogryposis type 5D (DA5D) caused by compound heterozygous variants in the ECEL1 gene. METHODS: A child (proband) diagnosed with DA5D and his family members (proband's parents and sister) who was admitted to the Department of Rehabilitation Medicine of Henan Children's Hospital in July 2022 due to "multiplex distal arthrogryposis" were enrolled into this study. Clinical data of the proband were collected and peripheral blood samples were obtained from the proband and members of his family about 3 mL. Trio-whole genome sequencing (trio-WGS) was carried out to detected the genetic variations of the proband and his family members. The candidate's pathogenic gene variants were screened and analyzed by Genome Aggregation Database (gnomAD) and other databases. The screened variants were annotated for clinical phenotypes using databases like the Online Mendelian Inheritance in Man (OMIM). The pathogenicity of the candidate variants was predicted by bioinformatics tools such as Provean. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), pathogenicity ratings were conducted for variant sites. The protein conservation and mutation structure prediction of ECEL1 protein among species were carried out though MEGA-X and PyMOL. The research protocol of this study was reviewed by the Ethics Committee of Henan Provincial Children's Hospital (Approval No. 2023-H-H01), and informed consent for clinical research was obtained from the guardians of the probands. RESULTS: The proband had multiplex distal arthrogryposis involving hands, feet, knees, and ankles, and had right ptosis, micrognathia, low auricular position, and upturned nose. The parents and sister both had normal phenotypes. Trio-WGS and Sanger sequencing revealed that the child had compound heterozygous variants of paternal c.1742_c.1743insT and maternal c.2314T>G, for which the father and sister were carriers of the c.1742_c.1743insT heterozygous variant and the mother was carrier of c.2314T>A. Neither mutation site has been reported. According to guidelines of ACMG, the c.1742_c.1743insT variant was classified as likely pathogenic (PSV1+PM2_Supporting), and c.2314T>G was classified as uncertain (PM2_Supporting+PM3+PP3). The results of conserved analysis of amino acid residue sequences of ECEL1 protein showed that the missense mutation of the maternal c.2314T>G (p.Cys772Gly) was highly conserved among humans and other seven species. The protein structure prediction revealed that the c.1742_c.1743insT frameshift mutation led to the protein truncation, and the c.2314T>G missense mutation resulted in the failure of forming 1 disulfide bond. CONCLUSION The compound heterozygous variants of ECEL1 gene were considered to be pathogenic for this DA5D patient, which have expanded the mutational spectrum of the ECEL1 gene and provided a reference for clinical diagnosis as well as genetic counseling for this family.
Humans ; Pedigree ; Arthrogryposis/genetics* ; Male ; Female ; Heterozygote ; Phenotype ; Mutation ; Child ; Metalloendopeptidases

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

In the special periods of puberty,menstruation,pregnancy,postpartum,and perimenopause of the female life,the drastic changes in qi and blood of the women cause the redistribution of qi,blood,yin and yang in those periods,which easily leads to various disordered states of disharmony between nutrient qi and defensive qi,disharmony between qi and blood,and imbalance of yin and yang.By analyzing the mechanism of the disharmony between nutrient qi and defensive qi in the special periods of puberty,menstruation,pregnancy,postpartum,and perimenopause of the female life,this paper proposes the approach of harmonizing nutrient qi and defensive qi to treat menstrual disorders,leukorrheal disease,gravid trouble,and parturition problems.Moreover,It is recommended that Guizhi Tang(Cinnamomi Ramulus Decoction),the chief of ZHANG Zhong-Jing's prescriptions and having the actions of releasing muscles and harmonizing nutrient qi and defensive qi,and activiting qi and harmonizing yin and yang,can be used to treat gynecological diseases through the modification.The utilization of Guizhi Tang for the treatment of gynecological diseases at various periods of women's lives will expand the application of classical prescriptions in treating gynecological diseases.

Cholinergic urticaria (CholU) is a special type of chronic inducible urticaria characterized by transient, needle-sized wheals and erythema with stinging pain and/or itching, precipitated by increased core body temperature as a result of exercise or passive heating. Some cases were accompanied by angioedema, which seriously affects their quality of life. The pathogenesis of CholU involves sweat allergy and atopic diathesis, increased histamine release in sweat and the influence of Malassezia, decreased cholinergic receptors in hypohidrotic areas, decreased expression of cholinesterase, serum factors and autoantibodies, etc. Standard-dose and updosed second generation H1-antihistamines are the first-line therapy for CholU. For refractory CholU patients with normal sweating, biological agents, sweat desensitization and other therapies could be further chosen, while patients with severe hypohidrosis could be further treated with glucocorticoid pulse therapy and so on. This review summarizes the pathogenesis, classification, clinical manifestations, diagnosis and treatment of CholU from the perspective of the role of sweat in the pathogenesis of CholU.

Objective:To summarize the clinical and genetic characteristics of patients with neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) caused by MAPK8IP3 gene variation. Methods:The clinical data and genetic testing results of 2 children with NEDBA treated in Henan Children′s Hospital from August 2019 to January 2022 were collected retrospectively. Literature was searched and reviewed from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed database and OMIM database (up to October 2024) with" MAPK8IP3 gene ""NEDBA ""neurodevelopmental disorders "as the search terms. The main clinical genetic characteristics of NEDBA caused by MAPK8IP3 gene variation were summarized. Results:The 2 children, a boy aged 1 year and 8 months and a girl aged 1 year and 4 months, both showed global developmental delay and the onset of the disease in infancy. The de novo heterozygous mutation c.1732C>T(p.Arg578Cys) of the MAPK8IP3 gene was detected by whole-exome sequencing. Case 1 was followed up to 3 years and 10 months old, who had severe developmental delay and was accompanied by hip subluxation and strephexopodia. Literature search retrieved 0 Chinese literature and 2 English literatures. A total of 18 patients including 2 cases reported in this study were identified as NEDBA caused by MAPK8IP3 gene variations, including 16 cases with missense mutations and 2 cases with truncation mutations. Among them, 7 patients carried c.1732C>T(p.Arg578Cys) and 5 patients carried c.3436C>T(p.Arg1146Cys). The main clinical manifestations of the 18 patients included developmental delay/intellectual disability (18 cases), poor or absent speech (11 cases), abnormal neurological examination (10 cases: 6 with spastic paraplegia, 2 with spasticity, 2 with ataxia, 1 with unstable gait), hypotonia (10 cases), skeletal malformations (10 cases: 4 with short stature, 3 with scoliosis, 1 with 5th finger clinodactyly and brachydactylky, 1 with flat-valgus feet, 1 with hip subluxation), seizures (3 cases), left hearing loss (1 case), myopic astigmatism and pseudostrabismus (1 case), abnormal brain magnetic resonance imaging (15 cases). Conclusions:Patients with NEDBA is usually characterized by global developmental delay apparent from infancy or early childhood, resulting in language and motor disorders. Additional features may include hypotonia, spasticity, skeletal malformations and abnormal brain magnetic resonance imaging. Currently, missense variations are frequent among the heterozygous MAPK8IP3 genotypes, among which c.1732C>T(p.Arg578Cys) and c.3436C>T(p.Arg1146Cys) are considered hot spot variations.

Acupuncture is considered both safe and effective for treating depression;however,its underlying mechanism remains incompletely understood.This article reviewed the mechanisms of acupuncture in depression from the perspective of brain network dynamics.It has been found abnormal alterations in the structural and functional brain networks,including the default mode network,cognitive control network,salience network and affective network in individuals with depression.Acupuncture has been shown to enhance the diffusion anisotropy value of white matter and repair the microstructure of white matter fiber bundles in key brain regions.It can also modulate the activation the functional brain networks,either globally or in specific network segments,improve functional connectivity within and between functional networks,regulate global transmission efficiency and connectivity patterns of functional networks,restore brain network interaction balance,regulate abnormal integration of functional networks,and improve emotional regulation ability and cognitive function,in order to alleviate the clinical symptoms of depression and serve as an effective antidepressant therapy,which can provide reference for the study of acupuncture intervention in the brain network mechanism of depression.

Objective To investigate the relationship between colposcopy findings and the progression of cervical intraepithelial neoplasia(CIN)and analyze the factors of missed diagnosis in the evaluation of high-grade lesions.Methods 304 cases who underwent colposcopy-guided biopsy and were diagnosed with CIN from January 2020 to November 2023 were selected.Based on colposcopic biopsy results,patients were classified into CIN Ⅰ(103 cases),CIN Ⅱ(137 cases),CIN Ⅲ(59 cases),and early invasive carcinoma(5 cases).By comparing with postoperative pathological results from loop electrosurgical excision procedure of cervix(LEEP of cervix),high-grade cases(CIN Ⅱ and above)were further subdivided into the detected group and the missed diagnosis group.Logistic regression analysis was performed to identify factors influencing the underdiagnosis of high-grade CIN by colposcopy.Results Abnormal blood vessels and acetowhite epithelium observed during colposcopy were helpful in differentiating various grades of CIN.Although the overall concordance rate of CIN diagnosis by colposcopy-guided biopsy was relatively high,21 cases of high-grade CIN(including 14 CIN Ⅱ,5 CIN Ⅲ,and 2 early invasive carcinoma)were missed.Factors independently associated with the underdiagnosis of high-grade CIN included parity,menopause,non-staining areas with iodine<2 cm,cytological examination of low-grade squamous intraepithelial lesion(LSIL),lesion size<1/2,single biopsy specimen,and poor-quality colposcopic images(P<0.05).Conclusion Colposcopic biopsy shows a high concordance rate for diagnosing CIN across different grades.However,parity,menopause,non-staining areas with iodine<2 cm,cytological examination of LSIL,lesion size<1/2,single biopsy specimen,and colposcopic image poor-quality are identified as independent factors influencing the underdiagnosis of high-grade CIN.These factors should be considered in clinical practice to improve diagnostic accuracy.

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.