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.

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 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.

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.

Objective:To deeply analyze differences in characteristics of neurosyphilis between male and female patients with neurosyphilis, as well as between patients with symptomatic neurosyphilis and those with asymptomatic neurosyphilis, and to provide reference for the prevention and control, clinical diagnosis and treatment of neurosyphilis.Methods:A total of 131 inpatients with neurosyphilis were collected from Department of Dermatology and Venereology, the First Affiliated Hospital of Anhui Medical University from June 2015 to December 2019, and their clinical manifestations and laboratory findings were retrospectively analyzed. These patients were grouped according to gender and neurological/psychiatric symptoms. Measurement data were compared by using two-independent-sample t test or Mann-Whitney U test, and enumeration data were compared by using chi-square test and Fisher′s exact test, to analyze differences in clinical characteristics and laboratory indicators between different groups. Results:Among the 131 patients, there were 72 with asymptomatic neurosyphilis (asymptomatic group) and 59 with symptomatic neurosyphilis (symptomatic group). The proportion of patients receiving syphilis treatment was significantly lower in the symptomatic group (10.17%) than in the asymptomatic group (98.61%, OR = 0.002, P < 0.001). The misdiagnosis rate at the first clinical visit was significantly higher in the male patients (50.00%) than in the female patients (24.49%, OR = 3.08, P = 0.004), as well as in the symptomatic patients (89.83%) than in the asymptomatic patients (0, OR = 13.00, P < 0.001). The proportion of symptomatic patients was significantly higher in male patients (57.32%) than in female patients (14.64%, OR = 4.14, P = 0.003). Compared with the female patients, the male patients showed significantly increased positive rates of toluidine red unheated serum test (TRUST) in the cerebrospinal fluid samples (52.44% vs. 26.54%, OR = 3.05, P = 0.004), increased proportions of patients with elevated levels of total protein (> 0.5 g/L) in cerebrospinal fluids (79.27% vs. 59.18%, OR = 2.64, P = 0.01), increased total protein levels in cerebrospinal fluids (0.76 ± 0.41 g/L vs. 0.56 ± 0.25 g/L, P = 0.002), and increased detection rates of brain magnetic resonance imaging abnormalities (72.22% vs. 44.90%, OR = 2.13, P = 0.039). The age at diagnosis of the symptomatic female patients (50.82 ± 9.31 years) was significantly higher than that of the asymptomatic female patients (42.30 ± 12.18 years, P = 0.038). The positive rate of TRUST in the cerebrospinal fluid samples was significantly higher in the patients with symptomatic neurosyphilis (55.93%) than in those with asymptomatic neurosyphilis (31.94%, OR = 2.70, P = 0.006), and so was the total protein level in cerebrospinal fluids (0.79 ± 0.46 g/L vs. 0.60 ± 0.24 g/L, P = 0.003) . Conclusion:The misdiagnosis rate of neurosyphilis is high at the first clinic visit; the condition of male patients is more serious than that of female patients; anti-syphilitic treatment history, gender and age may play some role in the development of neurosyphilis.

OBJECTIVE: To explore the genetic basis for a fetus featuring growth restriction and validate the effectiveness of a novel noninvasive prenatal testing (NIPT) technique for the detection of chromosomal microdeletions. METHODS: Next-generation sequencing(NGS) and fluorescence in situ hybridization(FISH) were used to analyze the DNA of the fetus. Conventional G-banding was used to analyze the karyotypes of the fetus and its parents. High-throughput sequencing was used to analyze free fetal DNA. RESULTS: NGS analysis has revealed a 4.88 Mb deletion at 15q11.2-q13.1 region in the fetus, which has a 99% overlap with the critical region of Prader-Willi syndrome (Type 2) and Angelman syndrome (Type 2) and encompassed critical genes including SNRPN and UBE3A. NIPT also revealed a 4.6 Mb deletion at 15q12, which was consistent with the results of fetal cord blood and amniotic DNA testing. FISH assay has confirmed the result of NGS. By karyotying, all subjects showed a normal karyotypes at a level of 320~400 bands. CONCLUSION It is quite necessary to carry out genetic testing on fetuses showing growth restriction. NIPT for fetal chromosomal microdeletions/microduplication syndromes is highly accurate for the diagnosis of Prader-Willi/Angelman syndrome.
Angelman Syndrome ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Prader-Willi Syndrome ; Pregnancy

Objective To study the relationships between differences in tumorigenicity and immu-nogenetic backgrounds of nude mice. Methods According to the Chinese Pharmacopoeia, positive and neg-ative groups were set up in both Laboratory A and B with ten nude mice in each group. Organ tissues were collected for clinicopathological analysis. Blood samples were collected and detected using flow cytometry. DNA was extracted and analyzed with 23 STR markers. Results The positive group of Laboratory B was in-valid (7/10 tumor formation). The two laboratories showed no significant difference in the results of patho-logical analysis, but had significant differences in CD25, CD8, CD4, Th1 and Th2. There were 13 and 18 polymorphic sites respectively found in nude mice of Laboratory A and B. Further analysis of the non-tumor-bearing nude mice in Laboratory B positive group revealed that CD25, Th2, D3Mit29 and D5Mit48 were the specific indexes. Conclusion Differences in tumorigenicity might be related to the diversity of immunoge-netic backgrounds of nude mice.

Objective To optimize and compare four in vitro cytotoxicity assays in order to find a relatively rapid assay that can replace the traditional 51Cr release assay to evaluate the cytotoxicity of immune cells prepared for immunotherapy.Methods Four assays including BATDA, CAM (calcein acetoxymethyl ester), CytoTox-Glo and PKH were optimized and used to measure the in vitro cytotoxicity of NK-92 cells to K562 cell line.Intra-and inter-assay reproducibility of these assays and their correlation with 51Cr release assay were analyzed.Results After optimization, all of the four cytotoxicity assays showed good correlation with effector to target (E/T) ratio in a certain range.Compared with the other three assays, CytoTox-Glo assay showed obvious hook effect at a high E/T ratio of 40∶1.BATDA assay could detect the significant cytotoxicity of NK-92 cells to K562 cells after incubating them for one hour and that was the shortest time taken by the four assays to detect in vitro cytotoxicity.Both CAM and PKH assays took about four hours and CytoTox-Glo assay took six to eight hours to detect the significant cytotoxic potency.All of the four assays, especially BATDA and CAM assays, showed good intra-and inter-assay reproducibility.Among these assays, BATDA assay showed the best correlation with the traditional 51Cr release assay.BATDA assay, as compared with the other three assays, could be used to detect the cytotoxicity of Caov3 cells, an adherent cell line, and showed good results in evaluating the cytotoxic potency of autologous primary NK cells and CD19-CAR T cells.Conclusion Compared with the other three assays, BATDA assay shows the best linear correlation with 51Cr release assay and has the advantages of time-saving and good reproducibility.Besides, it is a better assay for detecting the cytotoxicity of adherent cells.BATDA assay is a promising substitute for 51Cr release assay in evaluating the in vitro cytotoxic potency of NK cells and other immune cells.