This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
Humans ; Chromosome Deletion ; Chromosomes, Human, Pair 19/genetics* ; Ectodermal Dysplasia/genetics* ; Facies ; Failure to Thrive/genetics* ; Heart Defects, Congenital/genetics*

OBJECTIVES: Metabolic syndrome (MetS) is a major public health concern that poses a significant threat to human health. Investigating its underlying mechanisms and identifying potential intervention targets has important clinical implications. This study aims to explore the association between serum gastric biomarkers and MetS and its components. METHODS: A cross-sectional study was conducted among 24 635 individuals (aged 18 to 80 years) who underwent routine health examinations from May 2017 to June 2021 at the Health Management Medical Center, Third Xiangya Hospital, Central South University. Demographic data, medical and medication history, height, weight, blood pressure, fasting blood glucose, glycated hemoglobin (HbA1c), total cholesterol, triglycerides, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and creatinine levels were collected. Serum levels of pepsinogen (PG) I, PGII, and gastrin-17 (G-17) were measured using enzyme-linked immunosorbent assay kits. MetS was diagnosed based on the International Diabetes Federation criteria. Logistic regression was used to assess the association between gastric biomarkers and MetS. RESULTS: Among the 24 635 participants, the overall prevalence of MetS was 35.72%, with a higher rate in males than in females (42.41% vs 24.31%). Compared with the non-MetS group, MetS group were older and had higher metabolic-related diseases rate, Helicobacter pylori infection rate, body mass index (BMI), waist circumference, systolic and diastolic blood pressure, total cholesterol, triglycerides, fasting blood glucose, glycated hemoglobin, and creatinine levels (all P<0.05). Serum G-17 levels were significantly elevated in the MetS group, and PGI levels decreased (both P<0.05). Males had higher G-17, PGI, PGII, and PGI/PGII ratios than females (all P<0.05). Subgroup analysis revealed that G-17 was consistently elevated in MetS patients regardless of sex, whereas PGI was decreased. PGII levels exhibited sex-specific differences. After adjusting for confounders, Logistic regression analysis revealed that high G-17 level was independently associated with MetS, with a stronger correlation observed in males. Moreover, G-17 level progressively increased with higher MetS scores (all P<0.05). CONCLUSIONS Serum G-17 level is positively associated with both the presence and severity of MetS, with a more pronounced correlation in males, suggesting its potential involvement in MetS-related metabolic dysregulation.
Humans ; Metabolic Syndrome/epidemiology* ; Female ; Male ; Middle Aged ; Adult ; Cross-Sectional Studies ; Biomarkers/blood* ; Aged ; Young Adult ; Adolescent ; Gastrins/blood* ; Pepsinogen A/blood* ; Pepsinogen C/blood* ; Aged, 80 and over

Allergen-specific immunotherapy（AIT） remains the only therapeutic approach with the potential to modify the natural course of allergic rhinitis（AR）. Nevertheless, considerable inter-individual variability exists in patients'responses to AIT. To facilitate more reliable assessment of treatment efficacy, the China Rhinopathy Research Cooperation Group（CRRCG） convened young and middle-aged nasal experts in China to formulate the present consensus. The recommended subjective outcome measures for AIT comprise symptom scores, medication scores, combined symptom and medication scores, quality-of-life assessments, evaluation of disease control, and assessment of comorbidities. Objective indicators may supplement these measures. Currently available objective approaches include skin prick testing, nasal provocation testing, and allergen exposure chambers. However, these methods remain constrained by practical limitations and are not yet appropriate for routine implementation in clinical efficacy evaluation. In addition, several biomarkers, including sIgE and the sIgE/tIgE ratio, sIgG4, serum IgE-blocking activity, IgA, cytokines and chemokines, as well as immune cell surface molecules and their functional activity, have been shown to have associations with AIT outcomes. While these biomarkers may complement subjective assessments, they are subject to significant limitations. Consequently, large-scale multicenter trials and real-world evidence are required to strengthen the evidence base. The present consensus underscores the necessity of integrating patients'subjective experiences with objective testing throughout the treatment process, thereby providing a more comprehensive and accurate framework for efficacy evaluation. Looking forward, future investigations should prioritize the incorporation of multi-omics data and artificial intelligence methodologies, which hold promise for overcoming current limitations in assessment strategies and for advancing both the standardization and personalization of AIT.
Humans ; Allergens/immunology* ; China ; Consensus ; Desensitization, Immunologic ; Immunoglobulin E ; Quality of Life ; Rhinitis, Allergic/therapy* ; Treatment Outcome ; East Asian People

Objective To conduct risk assessment analysis through risk assessment model for postoperative pneu-monia(POP)in surgical departments constructed according to analytic hierarchy process(AHP)-risk matrix,and evaluate the application effectiveness of the model.Methods Taking a tertiary comprehensive teaching hospital as an example,a risk assessment was conducted on the occurrence of POP in 15 surgical departments in 2022.The ap-plication effect of POP risk assessment model for the surgical departments constructed based on the AHP-risk ma-trix was evaluated,and the POP risk level of the surgical departments was determined.Results Through applica-tion of risk assessment model,the POP risk level of the surgical departments was divided into 5 levels,namely ex-tremely high risk(n=3),high risk(n=1),medium risk(n=5),low risk(n=4),and extremely low risk(n=2).Conclusion The application effect of the surgical POP risk assessment model based on AHP-risk matrix method is good,achieving quantitative assessment of healthcare-associated infection risk,and providing data basis and support for further targeted risk control.

Atopic dermatitis(AD)is the most common chronic inflammatory skin disease.For decades,the treatment of AD has been limited to local corticosteroid or calcineurin inhibitors,and light therapy or systemic immunosuppressive drug for moderate to severe AD patients.With the in-depth study of the pathogenesis of AD,many local and systemic targeted therapy drugs are being developed,which may change the treatment options of AD.This review combination with the latest clinical trials give a summarize on the type,mechanism,efficacy and safety of biological targeted therapy for AD,to provide a theoretical basis for the individualized treatment of AD.

Objective:To further improve the understanding of paroxysmal nocturnal hemoglobinuria (PNH), we retrospectively analyzed and summarized the clinical characteristics, treatment status, and survival status of patients with PNH in Zhejiang Province.Methods:This study included 289 patients with PNH who visited 20 hospitals in Zhejiang Province. Their clinical characteristics, comorbidity, laboratory test results, and medications were analyzed and summarized.Results:Among the 289 patients with PNH, 148 males and 141 females, with a median onset age of 45 (16-87) years and a peak onset age of 20-49 years (57.8% ). The median lactic dehydrogenase (LDH) level was 1 142 (604-1 925) U/L. Classified by type, 70.9% (166/234) were classical, 24.4% (57/234) were PNH/bone marrow failure (BMF), and 4.7% (11/234) were subclinical. The main clinical manifestations included fatigue or weakness (80.8%, 235/289), dizziness (73.4%, 212/289), darkened urine color (66.2%, 179/272), and jaundice (46.2%, 126/270). Common comorbidities were hemoglobinuria (58.7% ), renal dysfunction (17.6% ), and thrombosis (15.0% ). Moreover, 82.3% of the patients received glucocorticoid therapy, 70.9% required blood transfusion, 30.7% used immunosuppressive agents, 13.8% received anticoagulant therapy, and 6.3% received allogeneic hematopoietic stem cell transplantation. The 10-year overall survival (OS) rate was 84.4% (95% CI 78.0% -91.3% ) . Conclusion:Patients with PNH are more common in young and middle-aged people, with a similar incidence rate between men and women. Common clinical manifestations include fatigue, hemoglobinuria, jaundice, renal dysfunction, and recurrent thrombosis. The 10-year OS of this group is similar to reports from other centers in China.

Diabetic nephropathy (DN) is a microvascular complication caused by diabetes mellitus, which often leads to structural and functional damages of several kidney cell types, and has become an important cause of chronic kidney disease and end-stage renal disease. Connexins are involved in maintaining cell function and tissue homeostasis in various organs by forming semi-channels and mediating gap-junctional intercellular communication. Connexin 43 (Cx43) is the most abundant and widely studied connexin in kidney. Accumulating evidences have shown that Cx43 is involved in the pathological process associated with glomerular mesangial cells, podocytes and renal tubular epithelial cells during the development of DN. However, the molecular mechanism of Cx43 in regulating kidney cell homeostasis of DN is still unclear. The paper systematically reviews the relationship between Cx43 and pathogenesis of DN from the perspective of signaling pathway regulation, and explores the therapeutic potential of targeting Cx43 in the intervention of DN.

OBJECTIVE: To explore the mechanisms of Buyang Huanwu Decoction (BYHWD) modulating the gut microbiome and trimethylamine oxide (TAMO) to exert cardioprotective effects. METHODS: Ligation of the left anterior descending coronary artery was performed in rats to induce heart failure (HF). Except for the sham-operation group (n=10), 36 operation-induced models were randomized into 3 groups using a random number table (n=12 in each group): the model group, the BYHWD group (15.02 g/kg BYHWD), and the positive group (4.99 g/kg metoprolol succinate). After 4-week treatment (once daily by gavage), echocardiography was applied to evaluate the cardiac function and the Tei index (the ratio of ventricular isovolumic contraction time (IVCT) and isovolumic diastolic time (IVRT) to ejection time (ET)) was calculated; hematoxylin-eosin (HE) staining was observed to characterize the pathology of the myocardium and small intestinal villi. D-lactic acid was detected by an enzyme-linked immunosorbent assay (ELISA). Expressions of occludin, claudin-1, and zonula occludens (ZO-1) were detected by Western blot. 16S ribosomal ribonucleic acid (16S rRNA) sequencing was used to explore the changes in the intestinal flora. TMAO was detected via liquid chromatography-tandem mass spectrometry (LC-MS/MS). RESULTS: In the echocardiography, the Tei index was considerably lower in the positive and BYHWD groups compared with the model group (P<0.05). Besides, BYHWD improved the pathology of myocardium and small intestine of HF rats and lowered the D-lactic acid content in the serum, when compared with the model group (P<0.05). BYHWD also improved the expression of occludin and claudin-1 (P<0.05); in the gut microbiota analysis, BYHWD slowed down modifications in the structure distribution of gut microbiota and regulated the diversity of intestinal flora in HF rats. The content of TMAO in the serum was significantly lowered by BYWHT compared with the model group (P<0.05). CONCLUSION BYHWD may delay progression of HF by enhancing the intestinal barrier structure, and regulating intestinal flora and TAMO.
Rats ; Animals ; Rats, Sprague-Dawley ; Gastrointestinal Microbiome ; Chromatography, Liquid ; Claudin-1 ; Occludin ; RNA, Ribosomal, 16S ; Tandem Mass Spectrometry ; Drugs, Chinese Herbal/pharmacology* ; Heart Failure

Objective:To explore the effectiveness of artificial intelligent (AI) quality control system on the standard mid-sagittal view of fetal face in 11-13 +6 weeks of gestation. Methods:The quality of the images was evaluated using online " Intelligent ultrasonic quality control system" for 1 063 sections of fetal Nuchal translucency ultrasound images in the Ultrasound Department of Shenzhen Maternity and Child Healthcare Hospital of Southern Medical University. The manual quality control results and time consuming of two experts were compared with AI. The gold standard was decided by experts group with higher seniority.Results:The overall standard rate, substandard rate and nonstandard rate of the image evaluated by the intelligent quality control system was 87.3%, 2.82%, and 9.88%. The overall accuracy of images was 96.6%. The coincidence rates between AI and the two experts were 96.1% and 96.3%, respectively, with strong consistency (Kappa were 0.835 and 0.845 respectively). The time required for intelligent quality control was significantly shorter than manual quality control (208 s vs 6 696 s/6 602 s). All the differences were statistically significant ( Z=-3.981, P<0.001). Conclusions:The intelligent quality control system could accurately and quickly evaluate whether the mid-sagittal view of fetal face in 11-13 +6 weeks of gestation is standard.

Objective: To compare the clinical efficacy of split liver transplantation (SLT) and living donor liver transplantation(LDLT) in the treatment of children with biliary atresia. Methods: The clinical data of 64 children with biliary atresia who underwent SLT and 44 children who underwent LDLT from June 2017 to May 2022 at Liver Surgery & Liver Transplantation Center,the Third Affiliated Hospital of Sun Yat-sen University were retrospectively analyzed. Among the children who received SLT, there were 40 males and 24 females. The median age at transplantation was 8 months (range:4 to 168 months). Among the patients who received LDLT, there were 24 males and 20 females. The age at transplantation ranged from 4 to 24 months,with a median age of 7 months. Sixty-four children with biliary atresia were divided into two groups according to the SLT operation time: 32 cases in the early SLT group(June 2017 to January 2019) and 32 cases in the technically mature SLT group (February 2019 to May 2022). Rank sum test or t test was used to compare the recovery of liver function between the LDLT group and the SLT group,and between the early SLT group and the technically mature SLT group. The incidence of postoperative complications was compared by χ² test or Fisher exact probability method. Kaplan-Meier method and Log-rank test were used for survival analysis. Results: The cold ischemia time(M (IQR)) (218 (65) minutes), intraoperative blood loss(175 (100) ml) and graft-to-recipient body weight ratio (3.0±0.7) in the LDLT group were lower than those in the SLT group(500 (130) minutes, 200 (250) ml, 3.4±0.8) (Z=-8.064,Z=-2.969, t=-2.048, all P<0.05). The cold ischemia time(457(158)minutes) and total hospital stay ((37.4±22.4)days) in the technically mature SLT group were lower than those in the early SLT group(510(60)minutes, (53.0±39.0)days).The differences were statistically significant (Z=-2.132, t=1.934, both P<0.05).The liver function indexes of LDLT group and SLT group showed unimodal changes within 1 week after operation. The peak values of ALT, AST, prothrombin time, activeated partial thromboplasting time, international normalized ratio, fibrinogen and creatinine all appeared at 1 day after operation, and the peak value of prothrombin activity appeared at 3 days after operation. All indicators returned to normal at 7 days after operation. The 1-,2-,and 3-year overall survival rates were 95.5% in LDLT group and 93.5% in the technically mature SLT group, and the difference was not statistically significant. The 1-,2-,and 3-year overall survival rates were 90.2% in the early SLT group and 93.5% in the technically mature SLT group, and there was no significant difference between the two groups(P>0.05). The main complications of the early SLT group were surgery-related complications(28.1%,9/32), and the main complications of the technically mature SLT group were non-surgery-related complications(21.9%,7/32). There were 5 deaths in the SLT group,including 4 in the early SLT group and 1 in the technically mature SLT group. Conclusion: The survival rate of SLT in the treatment of biliary atresia is comparable to that of LDLT.
Adolescent ; Biliary Atresia/surgery* ; Child ; Child, Preschool ; Creatinine ; Female ; Fibrinogen ; Humans ; Infant ; Liver Transplantation/methods* ; Living Donors ; Male ; Postoperative Complications/epidemiology* ; Prothrombin ; Retrospective Studies ; Treatment Outcome