Objective To explore the relationship between postoperative defecation dysfunction and quality of life in children with anorectal malformation(ARM)complicated with spinal cord anomalies(SCA)and analyze the impact of different types of SCA on ARM patients in order to provide a reference for the early clinical identification of high-risk children with poor prognosis.Methods A retrospective analysis was conducted on 282 ARM neonates admitted to our department between June 2015 and April 2021.Radiological examinations were applied to evaluate the development of the spinal cord,and Rintala score and the PedsQL 4.0 scale were employed to assess postoperative defecation function and quality of life,respectively.According to their SCA types and other complications,the patients were grouped.The relationship between these factors and defecation function as well as quality of life was then analyzed.Results Among the 282 subjected children,104(36.9%)had SCA.The incidence of SCA varied significantly across different types of ARM(P=0.002),with the highest incidence observed in vaginal fistula patients(100.0%)and the lowest in children without fistula(13.6%).Radiological findings revealed that sacral bone anomalies were common,with absent coccyx(62.7%)and vertebral anomalies(69.8%)being the most prevalent.The SCA group had significantly lower Rintala bowel function score(12.70±3.24)and PedsQL 4.0 quality of life score(81.42±5.03)than the non-SCA group(P<0.001).As the increment of SCA types,both the Rintala score and PedsQL 4.0 score were in a significant downward trend(P<0.001).Among the children with different types of SCA,those with tethered cord syndrome had the statistically lowest Rintala score(8.05±2.35,P<0.05).Meanwhile,their PedsQL 4.0 score(75.90±3.35)was significantly lower than those of other types except syrinx(P<0.05).Multiple linear regression analysis indicated that both SCA and sacral bone anomalies exerted notably negative impacts on the Rintala score and PedsQL 4.0 score(P≤0.001),with SCA having the most pronounced effect.Conclusion SCA is closely associated with postoperative defecation dysfunction and diminished quality of life in ARM children.The greater the type and number of SCAs,the worse the postoperative defecation function and quality of life.Early identification of concomitant SCAs holds significant clinical value for predicting postoperative outcomes in ARM patients.

Objective:To investigate factors influencing frequent episodes (≥ 4 episodes within 1 year) in children with moderate-to-severe atopic dermatitis (AD) in China.Methods:A national multicenter cross-sectional study was conducted. Patients under the age of 18 years diagnosed with moderate-to-severe AD were enrolled at dermatology clinics in 18 medical institutions across 12 provinces and municipalities in China between June 12 and August 8, 2023. At the time of the visit, their guardians completed a structured questionnaire covering demographic characteristics, clinical features of AD, personal and family history, factors associated with frequent episodes of moderate-to-severe AD, compliance with treatment, and disease awareness. Statistical analyses included t tests, one-way analysis of variance, rank-sum tests, and chi-square tests, with multiple-response analysis applied for multiple-choice questions. Results:A total of 965 valid questionnaires were collected, and 965 children with moderate-to-severe AD were included. Among them, there were 531 males and 434 females, 678 (70.3%) were aged 2 - < 12 years, 837 (86.7%) were from urban areas, the age at onset was 2.47 ± 3.03 years, and the median frequency of AD episodes in the past year was 4 times. These children were divided into 2 groups based on the median episode frequency: < 4-episode group (439 cases, 45.5%) and ≥ 4-episode group (526 cases, 54.5%). Compared with the < 4-episode group, children in the ≥ 4-episode group showed younger ages at onset (2.22 ± 2.98 years vs. 2.76 ± 3.06 years, P = 0.006) and higher proportions of patients with comorbid allergic diseases in both the children themselves (82.9% [436/526] vs. 69.7% [306/439], χ2 = 23.42, P < 0.001) and their relatives (66.0% [347/526] vs. 57.4% [252/439], χ2 = 7.46, P = 0.006). Children in the ≥ 4- episode group also had higher monthly usage of moisturizers (150 [30, 300] g vs. 60 [6, 200] g) and daily frequency of moisturizer use, greater disease awareness, but more severe fear of medication use (all P < 0.05). The region and the human development index level were both significantly associated with the episode frequency (both P < 0.001), with the highest proportion of children from South China in the ≥ 4- episode group (36.3%, 191/526). Children in the ≥ 4-episode group also had a longer duration of topical glucocorticoid use than those in the < 4-episode group ( Z = -2.21, P = 0.027). External triggers associated with AD episodes mainly included heat exposure (50.36%, 486/965), hot water bathing (40.73%, 393/965), seafood (23.52%, 227/965), and dust mites (33.37%, 322/965) . Conclusion:In children with moderate-to-severe AD in China, factors influencing frequent episodes may include residence in southern or economically developed regions, earlier age at onset, having a personal or family history of allergic diseases, and fear of medication use.

Objective To investigate the effect of microRNA-204-5p(miR-204-5p)on the proliferation of hippocampal neural stem cells in rats after hypoxic-ischemic brain injury(HIBD),and to analyze its relationship with Tribbles homolog 3(TRIB3).Methods In vitro primary hippocampal neural stem cell culture was conducted.The untreated cells were designated as the CK group,while those subjected to oxygen and glucose deprivation(OGD)injury treatment were classified as the OGD group.Subgroups were established based on OGD conditions:miR-NC group,miR-204-5p mimic group,silencing-NC group,silencing-TRIB3 group,miR-204-5p mimic+pcDNA3.1 group,and miR-204-5p mimic+pcDNA3.1-TRIB3 group.The expression of miR-204-5p and TRIB3 mRNA and the proliferation of hippocampal neural stem cells were detected.The target relationship between miR-204-5p and TRIB3 was analyzed.Results Compared with CK group,OGD group showed decreased expression of miR-204-5p,A value,proliferating cell nuclear antigen(PCNA)and CyclinD1 protein expression,and increased expression of TRIB3(P＜0.05).Compared with miR-204-5p mimic group,OGD group and miR-NC group showed increased expression of miR-204-5p,A value,PCNA and CyclinD1 protein,and decreased TRIB3 expression(P＜0.05).Compared with miR-204-5p mimic+pcDNA3.1-TRIB3 group,miR-204-5p mimic group and miR-204-5p mimic+pcDNA3.1 group showed increased TRIB3 expression and decreased A value,PCNA and CyclinD1 protein expression(P＜0.05).There were binding sites for miR-204-5p and TRIB3.Conclusion The overexpression of miR-204-5p can inhibit the expression of TRIB3 and promote the proliferation of hippocampal neural stem cells after HIBD.

Objective:To investigate factors influencing frequent episodes (≥ 4 episodes within 1 year) in children with moderate-to-severe atopic dermatitis (AD) in China.Methods:A national multicenter cross-sectional study was conducted. Patients under the age of 18 years diagnosed with moderate-to-severe AD were enrolled at dermatology clinics in 18 medical institutions across 12 provinces and municipalities in China between June 12 and August 8, 2023. At the time of the visit, their guardians completed a structured questionnaire covering demographic characteristics, clinical features of AD, personal and family history, factors associated with frequent episodes of moderate-to-severe AD, compliance with treatment, and disease awareness. Statistical analyses included t tests, one-way analysis of variance, rank-sum tests, and chi-square tests, with multiple-response analysis applied for multiple-choice questions. Results:A total of 965 valid questionnaires were collected, and 965 children with moderate-to-severe AD were included. Among them, there were 531 males and 434 females, 678 (70.3%) were aged 2 - < 12 years, 837 (86.7%) were from urban areas, the age at onset was 2.47 ± 3.03 years, and the median frequency of AD episodes in the past year was 4 times. These children were divided into 2 groups based on the median episode frequency: < 4-episode group (439 cases, 45.5%) and ≥ 4-episode group (526 cases, 54.5%). Compared with the < 4-episode group, children in the ≥ 4-episode group showed younger ages at onset (2.22 ± 2.98 years vs. 2.76 ± 3.06 years, P = 0.006) and higher proportions of patients with comorbid allergic diseases in both the children themselves (82.9% [436/526] vs. 69.7% [306/439], χ2 = 23.42, P < 0.001) and their relatives (66.0% [347/526] vs. 57.4% [252/439], χ2 = 7.46, P = 0.006). Children in the ≥ 4- episode group also had higher monthly usage of moisturizers (150 [30, 300] g vs. 60 [6, 200] g) and daily frequency of moisturizer use, greater disease awareness, but more severe fear of medication use (all P < 0.05). The region and the human development index level were both significantly associated with the episode frequency (both P < 0.001), with the highest proportion of children from South China in the ≥ 4- episode group (36.3%, 191/526). Children in the ≥ 4-episode group also had a longer duration of topical glucocorticoid use than those in the < 4-episode group ( Z = -2.21, P = 0.027). External triggers associated with AD episodes mainly included heat exposure (50.36%, 486/965), hot water bathing (40.73%, 393/965), seafood (23.52%, 227/965), and dust mites (33.37%, 322/965) . Conclusion:In children with moderate-to-severe AD in China, factors influencing frequent episodes may include residence in southern or economically developed regions, earlier age at onset, having a personal or family history of allergic diseases, and fear of medication use.

Objective To investigate the effect of microRNA-204-5p(miR-204-5p)on the proliferation of hippocampal neural stem cells in rats after hypoxic-ischemic brain injury(HIBD),and to analyze its relationship with Tribbles homolog 3(TRIB3).Methods In vitro primary hippocampal neural stem cell culture was conducted.The untreated cells were designated as the CK group,while those subjected to oxygen and glucose deprivation(OGD)injury treatment were classified as the OGD group.Subgroups were established based on OGD conditions:miR-NC group,miR-204-5p mimic group,silencing-NC group,silencing-TRIB3 group,miR-204-5p mimic+pcDNA3.1 group,and miR-204-5p mimic+pcDNA3.1-TRIB3 group.The expression of miR-204-5p and TRIB3 mRNA and the proliferation of hippocampal neural stem cells were detected.The target relationship between miR-204-5p and TRIB3 was analyzed.Results Compared with CK group,OGD group showed decreased expression of miR-204-5p,A value,proliferating cell nuclear antigen(PCNA)and CyclinD1 protein expression,and increased expression of TRIB3(P＜0.05).Compared with miR-204-5p mimic group,OGD group and miR-NC group showed increased expression of miR-204-5p,A value,PCNA and CyclinD1 protein,and decreased TRIB3 expression(P＜0.05).Compared with miR-204-5p mimic+pcDNA3.1-TRIB3 group,miR-204-5p mimic group and miR-204-5p mimic+pcDNA3.1 group showed increased TRIB3 expression and decreased A value,PCNA and CyclinD1 protein expression(P＜0.05).There were binding sites for miR-204-5p and TRIB3.Conclusion The overexpression of miR-204-5p can inhibit the expression of TRIB3 and promote the proliferation of hippocampal neural stem cells after HIBD.

【Objective】 To study the genotypes of ABO ambiguous blood group samples(n=20) and identify their molecular biological characteristics. 【Methods】 The serological phenotype of the samples was analyzed by serological techniques. Seven exons of ABO gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced; the genotypes and sequences of ABO subtypes were analyzed. 【Results】 The serological phenotypes of 20 samples presenting ABO ambiguous blood group were as follows: weak A antigen (n=5), weak A antigen combined with anti-A1 antibody (n=5), normal A antigen combined with anti-A1 antibody (n=2), weak B antigen (n=8). The genotypes of them were as follows: Ax02/O01 (n=3), Ael07/O01 (n=2), B313/O01 (n=2), A204/O02 (n=1), A220/O01 (n=1), Ael07/O02 (n=1), Ael02/O01 (n=1), Ael02/O02 (n=1), Ax03/O01 (n=1), Ax03/O02 (n=1), B313/O02 (n=1), B302/O01 (n=1), B302/O02 (n=1), Bw19/O02 (n=1), A102/B313 (n=1) and A101/Bw37 (n=1). 【Conclusion】 ABO genotyping technology can accurately identify the ambiguous blood group of samples, provide definite genetic information of blood group and ensure the safety of clinical transfusion.

Objective:To investigate the clinical phenotype and gene mutation in a child with developmental disorders caused by CTNNB1 gene mutation. Methods:Clinical data of a child with CTNNB1 gene mutation who was admitted to Xiamen Hospital of Fudan University Affiliated Pediatric Hospital in May 2017 were collected, whole exome sequencing technology was applied to verify the family lineage of the child, and the pathogenicity of mutation site was analyzed. Results:The patient was a 6 years and 1 month old male, with a clinical phenotype including mental retardation, motor developmental disorders, speech disorders, visual disorders (internal strabismus), microcephaly, and behavioral problems (social withdrawal, overdependence, etc.), as well as panic syndrome (i.e., sudden shrieking in response to auditory and visual stimuli, extensional rigidity of the body, etc., followed by short periods of general extensional rigidity). The whole exome sequencing results showed the presence of a de novo mutation c.283(exon4)C>T in the CTNNB1 gene, and the c.283(exon4)C>T mutation was interpreted as pathogenic (PVS1+PS2+PS1+PM2+PM) according to the American College of Medical Genetics and Genomics variant classification criteria and guidelines. No relevant genetic variants were found in the parental family verification. Conclusion:CTNNB1 gene mutation c.283(exon4)C>T can cause neurodevelopmental disorders, including mental retardation, motor developmental disorders, speech disorders, visual disorders, microcephaly and behavioral abnormalities.

Background There is a lack of research evidence on the association between sugar-sweetened beverage (SSB) consumption and gestational diabetes mellitus (GDM) in China. Objective To explore the association between frequency of SSB consumption before pregnancy and risk of GDM in pregnant women in Shaanxi Province, and to provide a scientific basis for targeted interventions to control maternal blood glucose. Methods The recruitment to the China Birth Cohort study started in October 2020. Pregnant women at 6-16 weeks who had their first prenatal examination at five hospitals in Shaanxi Province were recruited. A maternal health questionnaire was used to collect basic information about pregnant women. A semi-quantitative food frequency questionnaire was used to collect the consumption of carbonated beverages, fruit and vegetable juice beverages, coffee beverages, and milk tea beverages in one year before pregnancy, which were summed to obtain the SSB consumption. Pregnant women were divided into three groups according to SSB consumption, namely <1 serving·week⁻¹, 1-4 servings·week⁻¹, and ≥5 servings·week⁻¹. GDM was confirmed by oral glucose tolerance test (OGTT) between 24-28 weeks of gestation. A binary logistic regression model was applied to explore the association between SSB consumption and risk of GDM. Multiple linear regression was applied to investigate the associations between SSB consumption (per 1-serving·d⁻¹ increase) and OGTT fasting plasma glucose, 1-hour glucose, and 2-hour glucose. Results A total of 3811 pregnant women were finally enrolled in this study, of which 752 developed GDM, with an incidence rate of 19.7%. The incidence rates of GDM in pregnant women with SSB consumption frequency of <1 serving·week⁻¹, 1-4 servings·week⁻¹, and ≥5 servings·week⁻¹ were 18.0%, 21.1%, and 26.8%, respectively. After adjusting for maternal age, pre-pregnancy body mass index (BMI), education, number of children born, family history of diabetes, smoking, alcohol consumption, physical activity level, and total energy intake, the risk of GDM increased by 26% (OR=1.26, 95%CI: 1.05, 1.50) in the 1-4 servings·week⁻¹ group and by 76% (OR=1.76, 95%CI: 1.31, 2.38) in the ≥5 servings·week⁻¹ group compared to the <1 serving·week⁻¹ SSB consumption group, respectively. Further stratified analysis revealed no interaction effect (P_interaction>0.05) between SSB consumption and maternal age, pre-pregnancy BMI, or first labor or not. For each additional SSB consumption per day, the risk of GDM increased by 94% (OR=1.94, 95%CI: 1.37, 2.75); and the maternal OGTT 1-hour glucose and 2-hour glucose increased by 0.33 mmol·L⁻¹ and 0.18 mmol·L⁻¹, respectively (P<0.05), and no significant increase in fasting plasma glucose was found (P>0.05). Conclusion Higher SSB consumption before pregnancy increases the risk of GDM in pregnant women.

Objective To investigate the surgical treatment strategy of intracranial alveolar echinococcosis(AE)and the clinical outcomes.Methods The clinical and follow-up data of 15 intracranial AE patients who underwent surgical treatment in the Departments of Neurosurgery of Sichuan Provincial People's Hospital(SPPH)and People's Hospital of Aba Tibetan and Qiang Autonomous Prefecture(a branch hospital of SPPH)between March 2017 and January 2021 were retrospectively analyzed.Full follow-up data were available for each of the 15 cases.The clinical and imaging characteristics,general surgical information,and surgical outcomes were analyzed.Results In the 15 patients,there were a total of 50 intracranial lesions,with an average of(3.3±3.1)/case.Four cases had solitary intracranial lesions,while 11 cases had multiple lesions,with the number of intracranial lesions per case ranging from 2 to 13.All patients with solitary intracranial lesions received total resection.In 6 patients with multiple intracranial lesions,only the largest lesion was surgically removed,and in 5 patients,2 to 3 adjacent lesions were surgically removed.All but one patient had extracranial lesions in their liver,lungs,kidneys,adrenal glands,and thoracic vertebrae.The patients were followed up for 12 to 58 months after surgery,with the mean follow-up time being(28.1±13.4)months.Among the 15 cases,13 showed stable intracranial condition during postoperative follow-up.Intracranial lesions recurred in 2 patients who had deep lesions accompanied by dissemination to the subarachnoid space.Two patients died during follow-up.Conclusion Microsurgical treatment of intracranial AE is effective,but total surgical resection is difficult to accomplish when patients have echinococcosis lesions located at a depth,especially when the lesions are spreading to the subarachnoid space.The prognosis of patients is closely associated with the extent of lesion invasion and the control of systemic hydatid lesions,especially those in the liver.

Jaundice is a common clinical problem in neonatal period.Phototherapy is a common treatment for neonatal jaundice, but it also has side effects such as fever, diarrhea, rash and so on.In recent years, probiotics have been widely used in neonates with jaundice because they are beneficial to the health of the host, especially when they are treated with light and probiotics are added at the same time, which is more conducive to the elimination of jaundice.Studies have shown that abnormal bilirubin metabolism is closely related to microecology.This article reviews the mechanism and clinical application of probiotics in adjuvant treatment of neonatal jaundice.