OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

OBJECTIVE To explore the functional substance basis of Jinhong Tablet in the treatment of chronic superficial gastri-tis(CSG).METHODS Three different models were constructed to investigate the anti-inflammatory and antioxidant effects,func-tional material basis of Jinhong Tablet:inflammatory model in human gastric epithelial cells(GES-1)induced by lipopolysaccharide(LPS),LPS-induced inflammatory model in mouse gastric organoids,and ethanol-induced oxidative damage model in GES-1 cells.MTS assay was performed to detect cell proliferation activity;qPCR was applied to measure the relative mRNA expression of tumor necrosis factor-α(TNF-α),interleukin-1β(IL-1β),interleukin-6(IL-6),and interleukin-8(IL-8)in cells and gastric organoids;and the levels of superoxide dismutase(SOD),malondialdehyde(MDA),and reactive oxygen species(ROS)in cells were detected.RESULTS Jinhong Tablet and 10 functional components significantly reduced the relative expression of inflammation-relat-ed genes TNF-α,IL-1β,IL-6,and IL-8 in LPS-induced GES-1 cells and gastric organoids,suggesting that these 10 components are the functional substance basis for the anti-inflammatory effects of Jin Hong Tablet.Jin Hong Tablet and 11 functional components markedly decreased the levels of MDA and ROS and increased the activity of SOD,indicating that these 11 components were the func-tional substance basis of the antioxidant effects of Jinhong Tablet.CONCLUSION Through in vitro cell and gastric organoid experi-ments,it has been preliminarily determined that allocryptopine,corydaline,dehydrocorydaline,palmatine hydrochloride,chlorogenic acid,costunolide,rutin,quercitrin,dehydrocostus lactone,tetrahydrocoptisine,isochlorogenic acid B,toosendanin,protopine,and quercetin are the functional material basis of Jinhong Tablet in treating CSG,accumulating scientific evidence for the enhancement of the quality standards of Jinhong Tablet.

Objective To assess bacterial contamination in the indoor air and on item surface(hereinafter referred to as surface)within the pediatric outpatient departments of three tertiary hospitals,and provide reference for improving disinfection management and protecting children and medical staff.Methods A high-flow bioaerosol sampler was used to collected and monitored microorganisms from 42 indoor air samples across various surfaces of pediatric outpatient clinics within three tertiary hospitals.Additionally,surface sam-pling was employed to examine frequently touched surfaces by both medical staff and patients,with the objective of identifying bacterial colony-forming units(CFU).Results In the pediatric outpatient clinics,the B Hospital showed a significantly lower count of bacterial colonies in general air samples compared to A Hospital and C Hospital(P＜0.05).Conversely,A Hospital had a significantly lower count of bacterial colonies on frequently touched surfaces by both medical staff and patients than B Hospital and C Hospital(P＜0.05).Airborne CFU exceeded normal levels in all three hospitals.Notably,the waiting hall of A Hospital had a significantly higher concentration of airborne pathogens compared to its consultation and nebulization rooms(P＜0.05).At B Hospital,there was no significant difference in airborne pathogen levels between the consultation room and the waiting hall(P＞0.05).Meanwhile,the waiting hall and infusion room at C Hospital both had significantly higher pathogen levels than the consultation room(P＜0.05).The CFU of pathogens on sur-faces frequently contacted by patients or their family members were significantly higher at B Hospital and C Hospital than those contacted by medical staff(P＜0.05).In contrast,there was no significant difference in pathogen CFU detected on the surface of patients or fami-ly members in hospital A and that of medical staff(P＞0.05).Pathogenic bacteria,including staphylococcus aureus,bacillus cereus,and streptococcus pneumoniae,were detected in the air and on surfaces across all three hospitals,with a notable presence in consultation rooms,waiting halls,and infusion rooms.Conclusion The pediatric outpatient clinics of the three tertiary hospitals exhibit varying levels of microbial contamination,underscoring the need for vigilant and standardized management of routine disinfection practices.

Objective:To investigate the pathogenetic characteristics of clinical isolates of Streptococcus suis in Henan Province from 2020 to 2023. Methods:Eight clinical isolates of S. suis in Henan Province from 2020 to 2023 were identified using matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) and real-time fluorescence polymerase chain reaction (PCR). Serotype and virulence genes were detected by the serum agglutination test and PCR, and antibiotic susceptibility was evaluated using the microbroth dilution method. Multilocus sequence typing (MLST), minimum core genome (MCG), identification of antibiotic resistance genes, and core genome single nucleotide polymorphism (cgSNP) analysis were conducted using whole genome sequencing. Results:The results showed that eight S. suis strains isolated from humans were mainly serotype 2 (75.0%), while the rest were serotype 14 (25.0%). ST353 (62.5%) was the predominant genotype, followed by ST1 (25.0%) and ST7 (12.5%). All isolates belonged to the MCG1 group. The virulence genotypes of these isolates were primarily mrp(NA2)/ sly+/ ef+/ gapdh+(75.0%), while the remaining were mrp(EU)/ sly+/ ef+/ gapdh+(25.0%). These isolates carried tetracycline, macrolide, lincosamide and aminoglycoside resistance genes, and their resistance rates to tetracycline, erythromycin and clindamycin were 100.0%, 87.5% and 87.5%, respectively, and 62.5% strains were intermediate-resistant to penicillin. The cgSNP analysis indicated that these isolates were closer to the isolates from Guangdong, Zhejiang and Guangxi Provinces, with five ST353 strains and one ST7 strain belonging to Clade Ⅰ, and two ST1 strains belonging to Clade Ⅱ. Conclusion:The human isolates of S. suis in Henan Province are mainly ST353, harboring multiple virulence and antibiotic resistance genes.

To summarize the nursing care for a patient with extremely severe obese and multiple myeloma complicated with status epilepticus.The key points of nursing include:a multidisciplinary rescue team was established to accurately and comprehensively assess the patient's obesity level;based on the degree of obesity,a goal-directed sedation and analgesia strategy was implemented;airway management measures were optimized for difficult intubation,and lung-protective ventilation strategies were strictly followed with adjusted mechanical ventilation parameters;implementing precise fluid management,closely monitoring electrolyte levels,and reducing triggers for seizure episodes;sequential nutrition support combined with trophic feeding was provided,along with personalized enteral nutrition;early mobilization was initiated to prevent deep vein thrombosis;a skin protection strategy was implemented to establish a safe skin barrier.After meticulous treatment and nursing care,the patient's condition improved,and she was discharged.

Objectives:To evaluate the effectiveness of functionalized decellularized extracellular matrix(F-dECM)prepared from porcine auricular cartilage or porcine rib cartilage in repairing xenogeneic articular osteochondral defects.Methods:The por-cine auricular cartilage and rib cartilage were crushed and decellularized.Heparin modification and multi-factor loading were a-chieved through amide bond reaction.The physical characteristics of the particles were characterized by SEM observation and mer-cury intrusion.The chemical characteristics of the particles were characterized by tissue section staining and kit detection.The rabbit knee joint full-thickness defect models were established and implanted by different particles respectively.After 6 weeks and 12 weeks of operation,the samples were taken for gross observation,CT scanning and tissue sectioning to comprehensively evaluate the repair effect.Results:After heparin modification,the glycosaminoglycan lost during the decellularization process was replen-ished.Both heparinized auricular cartilage and costal cartilage presented a highly developed porous structure.Among them,the porosity and pore diameter of costal cartilage were both lower than those of auricular cartilage(P＜0.05).During the observation periods of 6 weeks and 12 weeks,the porcine costal cartilage F-dECM implantation group was superior to other experimental groups in knee joint repair effects(P＜0.05).Conclusion:Costal-derived F-dECM is a joint osteochondral defect repair material with application potential.

Objectives:To investigate the factors affecting the formation of coronary collateral circulation(CCC)in patients with chronic total occlusion(CTO)lesion of coronary artery.Methods:A total of 305 consecutive patients who were hospitalized in the department of cardiology of the First Hospital of Lanzhou University from December 2022 to December 2023 and CTO lesions were confirmed by coronary angiography in at least one major coronary artery were included.The clinical data were collected,and the patients were divided into poor CCC group(Rentrop grade 0-1,n=109)and good CCC group(Rentrop grade 2-3,n=196)according to Rentrop criteria.Univariate logistic regression and multivariate logistic regression analysis were used to investigate the risk factors of poor CCC formation in CTO lesion patients.Results:There were 109 patients with poor CCC formation and 196 patients with good CCC formation in this cohort.The levels of white blood cell count,neutrophil count,platelet count,platelet to lymphocyte ratio,neutrophil to lymphocyte ratio,systemic immunoinflammatory index(SII),lipoprotein a and fibringen(Fib)were significantly higher,lymphocyte count and mean platelet volume were significantly lower in patients with poor CCC formation than in patients with good CCC formation(all P<0.05).Multivariate logistic regression analysis showed that higher SII(OR=1.004,95%CI:1.003-1.006,P<0.001),Fib(OR=1.546,95%CI:1.038-2.301,P=0.032)levels were independent predictors of poor CCC formation in CTO lesion patients.Conclusions:Higher levels of SII and Fib are independently correlated with poor CCC formation,which may be used as clinical predictor of poor CCC formation in CTO lesion patients.

Melatonin is widely used as an over-the-counter medication to treat insomnia in children with autism spectrum disorder (ASD) and neurogenetic disorders (NGD). However, there is still a lack of research on its efficacy and safety, and clinical practice standards are to be established. In response, the International Pediatric Sleep Association (IPSA) convened an expert panel and developed a consensus statement:"Melatonin Use in Managing Insomnia in Children with Autism and Other Neurogenetic Disorders-an Assessment by the International Pediatric Sleep Association (IPSA)", which was published in Sleep Medicine, April 2024. The consensus focused on the efficacy and adverse effects of melatonin treatment for insomnia in children with ASD and NGD-including Smith-Magenis syndrome, Rett syndrome, Angelman syndrome, and tuberous sclerosis complex. It systematically reviews randomized controlled trials (RCTs) conducted between 2012 and 2022, and integrates current best clinical practices to formulate 10 consensus recommendations. Despite these contributions, the consensus has limitations: a small number of included RCTs, a lack of grading for evidence quality, and recommendation strength. Furthermore, the study population is primarily composed of children from Western countries. This article seeks to interpret the consensus to improve standardized use of melatonin for insomnia in Chinese children with ASD and NGD, and to provide a reference for the future development of localized evidence-based guidelines.

Objective:To evaluate the long-term protective efficacy of the recombinant Chinese hamster ovary cell-derived hepatitis B vaccine（CHO-HepB）26 years post-vaccination in the rural China.Methods:Zhengding county，Hebei province was designated as a rural monitoring site for CHO-HepB efficacy. Study participants included individuals born between 1997 and 1999 who had completed the three-dose CHO-HepB primary series without booster doses. A cross-sectional survey was conducted in late 2024 using random sampling. Demographic and vaccination history data were collected via questionnaires，and hepatitis B virus（HBV）serological markers were detected using chemiluminescence. Historical surveillance data were integrated to infer infection statuses of HBsAg-positive individuals and evaluate longitudinal trends in anti-HBs seropositivity and antibody titers.Results:Among 178 participants（mean time since vaccination：26.2 years），the seroprevalence rates were 0.6% for HBsAg（95% CI：0.0%-1.6%），64.6% for anti-HBs（95% CI：57.6%-71.6%），and 1.1% for anti-HBc（95% CI：0.0%-2.7%）. Compared to the pre-vaccination baseline HBsAg positivity of 11.3% in children under 10 years of age，the estimated vaccine protection rate was 95%. Two notable cases were identified：one with concurrent HBsAg and anti-HBc positivity and one with anti-HBs and anti-HBc positivity，suggestive of transient HBV exposure（1999—2009）without chronicity. Natural immune boosting was inferred for the latter case based on anti-HBs titer dynamics. Longitudinal analysis of four prior cross-sectional surveys（2005，2009，2013，and 2017）revealed no significant upward trends in HBsAg and anti-HBc positivity（both P>0.05）over 26 years，while anti-HBs seropositivity declined significantly（ P<0.05）from 6 to 26 years post-vaccination. Conclusion:The CHO-HepB vaccine demonstrates sustained immunological persistence and robust long-term protection up to 26 years post-immunization. Continued emphasis on rigorous implementation of mother-to-child transmission prevention strategies is critical for future hepatitis B control.

Objective:To investigate intraoperative pathological findings and the interventional effects of "deep cervical lymphaticovenous anastomosis+" (dcLVA+) on deep cervical lymphatic drainage as well as the blood flow of carotid artery and jugular vein in elderly patients with cognitive impairment, and to put forward the thoughts based on the findings from the surgery.Methods:Between May 2024 and December 2024, retrospective analysis of Microsurgery Hospital, Fengcheng Hospital, Xi'an Medical College performed dcLVA+ between the deep cervical lymphatics or lymph nodes and jugular veins in 50 elderly patients with cognitive impairment (19 males and 31 females, aged 55-88 years with 69.94 years in average). Nine patients were found with Clinical Dementia Rating (CDR) score at 1 (mild), 7 with CDR score at 2 (moderate) and 34 with CDR score at 3 (severe). Intraoperative observations based on literature reviews had identified anatomical relationships between the lymphatic sacs containing cervical lymphatic chain and the carotid sheath. The lymph node count, size, distribution, thickness of fat tissue and conditions of lymphatic vessels were documented. Ultrasound was used to compare the blood flow of carotid artery and jugular vein as well as the cross-sectional areas at the planes of hyoid and cricoid cartilage before and after the closure of incisions under anaesthesia in 39 patients. Correlation analyses for Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCa), Activities of Daily Living (ADL) and Agitation behavior score before and 1 week after surgery were performed using Spearman's correlation and Wilcoxon paired tests. P<0.05 was considered statistically significant. Postoperative follow-ups were conducted via the visit of outpatient clinic and WeChat and telephone interviews. Results:In surgery, the cervical lymphatic chain was found running within an almost enclosed sac surrounding the carotid sheath. There were enlarged lymph nodes, increased fat deposition, lymphatic dilation or fibrosis in the sac. The preoperative blood flow in the carotid artery at the planes of hyoid and cricoid cartilage in the 39 patients was recorded at 150.52 ml/min±40.33 ml/min and 358.29 ml/min±129.30 ml/min, while that in the jugular vein was at 172.50 ml/min±63.94 ml/min and 317.00 ml/min±105.21 ml/min, respectively, both were far lower than the normal blood flow. There were statistically significant differences in the blood flow of carotid artery and jugular vein before and after surgery ( P<0.01). It was found that the preoperative blood flow of the internal carotid artery at the plane of hyoid was positively correlated with the preoperative scores of MMSE ( P<0.01), MoCa ( P<0.05) and ADL ( P<0.01). The blood flow of the common carotid artery at the plane of cricoid cartilage was found significantly and positively correlated with the preoperative scores of MMSE ( P<0.05). It was also noted that the blood flow of the internal carotid artery at the plane of hyoid was significantly and positively correlated with the postoperative ADL ( P<0.01) but negatively correlated with the Agitation behavior score ( P<0.05). The blood flow of the common carotid artery at the plane of cricoid cartilage was significantly and positively correlated with the postoperative scores of MMSE and MoCa ( P<0.05). The blood flow of the internal jugular vein at the plane of hyoid was negatively correlated with the Agitation behavior score ( P<0.01). The cross-sectional area of carotid artery at the plane of left hyoid was significantly and positively correlated with the MMSE score ( P<0.05). Statistically significant differences were observed in MMSE, MoCa, ADL and Agitation behavior score before and after surgery ( P<0.01). Conclusion:dcLVA+ shows a certain therapeutic benefit to the elderly patients with cognitive impairment. The intraoperatively observed pathological changes in cervical lymphatic sacs affect deep cervical lymphatic drainage and the blood flow of carotid artery and jugular vein. Further studies are necessary to find out whether the findings from this study would be the specific pathological changes and the morbidity mechanisms among the elderly patients with cognitive impairment.