OBJECTIVE: To block the transmission of Cranio-facial-nasal syndrome (CFNS) caused by a large deletion of the EFNB1 gene through preimplantation genetic testing for monogenic disorders (PGT-M). METHODS: A patient with craniofacial deformities and his parents who had visited Shiyan People's Hospital in June 2020 were selected as the study subjects. The child underwent whole exome sequencing (WES) and qPCR validation. After genetic counseling, PGT-M was chosen for the reproductive blockage. This study was approved by the Ethics Committee of the Hospital (Ethics No.: sysrmyy-087). RESULTS: The child was diagnosed with CFNS due to a heterozygous deletion of exons 1-5 of the EFNB1 gene through WES and qPCR, which showed a X-linked dominant inheritance. The mother underwent ovarian stimulation with a modified PPOS protocol, which has yielded 11 oocytes. After ICSI fertilization, 4 blastocysts were formed, and MALBAC whole genome amplification was performed on the trophoblast biopsy cells, and SNP haplotypes of the family members and embryos were analyzed to indirectly determine the presence of maternal pathogenic haplotypes. Chromosomal copy number variation analysis was conducted through next-generation sequencing to screen for euploid embryos, resulting in the identification of two euploid embryos that did not carry the mutation of the EFNB1 gene. The first transfer was unsuccessful, but after adjusting the transfer timing through endometrial receptivity assessment (ERA), clinical pregnancy was achieved. Prenatal diagnosis at 19 weeks excluded the EFNB1 gene exons 1-5 deletion in the fetus. A healthy girl was delivered by Cesarean section at 38⁺⁶ weeks, and Q-PCR confirmed she has no aforementioned EFNB1 gene deletion. CONCLUSION This study has successfully blocked the transmission of CFNS caused by a large deletion of the EFNB1 gene (exons 1-5) using a PGT-M strategy, which may provide reference for the intervention of similar genomic variations that cannot be directly detected.
Humans ; Female ; Male ; Craniofacial Abnormalities/diagnosis* ; Ephrin-B1/genetics* ; Polymorphism, Single Nucleotide/genetics* ; Preimplantation Diagnosis/methods* ; Pedigree ; Asian People/genetics* ; Craniosynostoses/genetics* ; Pregnancy ; Gene Deletion ; Sequence Deletion ; Genetic Testing/methods* ; Adult ; East Asian People

Indwelling urinary catheterization is one of the most widely used invasive procedures in clinical practice, playing a critical role in disease diagnosis, treatment, and monitoring. In 2024, the European Association of Urology Nurses (EAUN) released the Best Practice Guidelines for Indwelling Urinary Catheterization in Adults-Transurethral and Suprapubic Catheterization (hereinafter referred to as the Guideline), aiming to provide evidence-based clinical guidance and health education information for healthcare professionals. This article interprets the section on "Nursing Principles" within the Guideline, which spans the entire process of catheter management. Key aspects covered include pre-insertion preparation, catheter insertion procedure, catheter maintenance and securement, observation of urine color, prevention of constipation, and catheter removal. The aim is to help urology nurses and related healthcare personnel gain an in-depth understanding of the recommendations in the Guideline, promote its standardized application in clinical practice, improve the quality of indwelling catheter care, and ensure patient safety.

Objective To investigate the causal relationship between abnormal placental lipid metabolism and trophoblast dysfunction in patients with preeclampsia(PE),and to explore the regulatory effects of PPARγ on trophoblast function under hypoxic conditions.Methods Placental tissues were collected from 30 patients with PE and 30 individuals with normal pregnancies at the General Hospital of Ningxia Medical University between October 2020 and November 2021 for the analysis of lipid deposition.A rat model of PE was established,comprising a sham-operated(Sham)group and a reduced uterine perfusion pressure(Rupp)group,with six rats in each group(n=12 total).Human trophoblast cells(HTR-8/SVneo)were cultured in vitro and randomly assigned to four experimental groups:normoxic control,hypoxia,hypoxia+PPARγ agonist(Rosiglitazone),and hypoxia+PPARγ antagonist(T0070907).The expression levels of lipid metabolism-related genes and transcription factors(FASN,FABP4,PPARγ,LXRα)were assessed using RT-qPCR.Western blotting was performed to determine the protein expression levels of PPARγ.Cell migration and invasion capacities were evaluated using scratch wound healing and Transwell assays,respectively.Results Placental lipid deposition in the PE group was significantly higher than that in the control group,particularly in the Rupp model mice(P<0.001).Under hypoxic conditions,the expression levels of FASN and FABP4 were upregulated in trophoblast cells(P<0.001),whereas the expression of PPARγ and LXRα was downregulated(P<0.001).Furthermore,treatment with the PPARγ antagonist T0070907 exacerbated the inhibitory effects of hypoxia on cell function(P<0.001),significantly reducing cell invasion and migration capacity(P<0.001).Additional siRNA-mediated knockdown experiments confirmed that PPARγ deficiency further aggravated hypoxia-induced impairments in cell migration and invasion,and this detrimental effect could not be reversed by Rosiglitazone.Conclusions Abnormal placental lipid metabolism in PE is closely linked to PPARγ-mediated enhancement of lipid synthesis and metabolic dysregulation under hypoxic conditions,which may subsequently impair trophoblast invasion and migration.

Health behavior motivation significantly affects the quality of life of patients with cardiovascular diseases.Assessing the level of health behavior motivation can measure the health behavior of individuals,help to promote the participation rate of cardiac rehabilitation,reduce the readmission rate of patients,and promote patients'healthy lifestyles.This article reviews the content,characteristics and application of assessment tools for health behavior motivation of patients with cardiovascular diseases at home and abroad,with the aim of providing references for the development and application of such tools in China,and offering a basis for scientifically assessing their health behavior motivation level and formulating effective strategies to promote health behavior motivation.

The number of patients with chronic diseases in China has been increasing year by year,followed by the increase of treatment burden.It is particularly important to effectively evaluate the treatment burden of patients with chronic diseases.This paper reviews the main contents,application scope,advantages and disadvantages of the assessment tools for the treatment burden of patients with chronic diseases at home and abroad,so as to provide references and basis for medical staff to reasonably select assessment tools and conduct relevant clinical research.

Objective To examine the serological and molecular prevalence as well as genotype characteristics of human Parvovirus B19 blood donors in Lanzhou,and to provide evidence for developing a screening strategy to reduce the risk of blood transfusion transmission.Methods A total of 5 722 blood samples collected from Lanzhou blood donors from April 2023 to October 2023 were tested for B19 DNA using real-time quantitative PCR(qRT-PCR).Additionally,383 samples were screened for anti-B19 IgG and anti-B19 IgM using synchronous enzyme-linked immunoassay(ELISA).Viral load and VP1 sequencing were conducted on the B19 DNA-positive samples and the Neighbor-Joining(N-J)method was used to construct an evolutionary tree for the sequenced samples.Results The prevalence of human Parvovirus B19 DNA,IgG antibody and IgM antibody was 0.47%(27/5 722),25.59%(98/383)and 0.26%(1/383),respectively,and the samples positive for B19 DNA,IgG antibody and IgM antibody were 0.26%(1/383).The co-positivity rate for B19 DNA and IgG antibody was 6.27%(24/383),while the positivity rates for B19 DNA or IgG antibody alone were 0.52%(2/383)and 19.06%(73/383),respectively.Viral loads ranged from 4.24 IU/ml to 5.67×102 IU/ml,all below 104 IU/ml.There was no statistical significance in the positive rate of B19 DNA in gender(χ2=0.86,P=0.35),but there was statistical significance in the positive rate of B19 DNA among all age groups(χ2=8.00,P=0.02).The highest positive rate of B19 DNA was 0.65%in the 18～30 age group.There was statistical significance in the positive rate of B19 IgG antibody in gender(χ2=5.03,P=0.02),but there was no statistical significance in the positive rate of B19 IgG antibody among all age groups(χ2=0.51,P=0.77).The highest positive rate of B19 IgG antibody was 29.09%in the age group of 41 to 60.There was no significant difference in the positive rate of B19 IgM antibody in gender(χ2=2.84,P=0.09).The highest positive rate of B19 IgM was 3.85%in the age group of 18～30 years old.Based on the VP1 sequence,the phylogenetic tree revealed that B19 strains in Lanzhou formed a distinct cladistic lineage within genotype 1,predominantly represented by genotype 1b.Conclusion The prevalence of B19 DNA and IgM antibodies among blood donors in the Lanzhou area is low,and so is the viral load.Therefore the risk of transmitting B19 through blood transfusion is relatively small.Since the prevalence of B19 IgG antibody is high,it is suggested to closely monitor the transmission situation in the area,regularly monitor the prevalence of B19 among blood donors,and track the situation of B19 DNA-positive blood donors to recipients to ensure the safety of clinical blood transfusion.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective To explore the mechanism of 1,25-dihydroxy vitamin D3[1,25(OH)2D3]in renal interstitial fibrosis mediated by nuclear factor κB(NF-κB)and inflammatory cytokines.Methods Taking the renal interstitial fibrosis model induced by transforming growth factor-β1(TGF-β1)as the research object,they were divided into blank group(HK-2 cells+complete culture medium),model group(5ng/ml TGF-β1 stimulated HK-2 cells for 48 hours),intervention group A[with 10-7mol/L 1,25(OH)2D3 intervention for 24 hours on the basis of model group],intervention group B[with 10-7mol/L 1,25(OH)2D3 intervention for 48 hours on the basis of model group]and intervention group C[with 10-7mol/L 1,25(OH)2D3 intervention for 72 hours on the basis of model group].The cell morphology,activity,protein expression and inflammatory factor levels of each group were observed and compared.Results The cell viability of model group was significantly lower than that of blank group(P＜0.05),the cell viability of intervention groups A,B and C was significantly higher than that of model group(P＜0.05).The protein expressions of p-NF-κBp65/NF-κBp65 and smooth muscle actin α(α-SMA),as well as the levels of interleukin-6(IL-6)and tumor necrosis factor α(TNF-α)in model group were significantly higher than those in blank group,while the protein expression of E-cadherin was significantly lower than that in blank group(P＜0.05).The protein expressions of p-NF-κBp65/NF-κBp65 and α-SMA,as well as the levels of IL-6 and TNF-α in intervention groups A,B and C were significantly lower than those in model group,while protein expression of E-cadherin was significantly higher than that in model group(P＜0.05).Among them,the change in intervention group A was the most significant.Conclusion 1,25(OH)2D3 can alleviate renal interstitial fibrosis by regulating the NF-κB signaling pathway and inflammatory cytokines,and 24 hours may be the optimal intervention time window.

Objective:To analyze the molecular characteristics of the virus in a local outbreak of dengue fever in Jiangsu province in 2023, and to provide a basis for the prevention and control of the outbreak.Methods:Serum samples were collected from suspected dengue patients in the acute phase of the outbreak for virus detection and serotyping by real-time fluorescence quantitative RT-PCR (RT-qPCR). Positive specimens were amplified with full-length genomic fragments and subjected to second-generation sequencing and related evolutionary analyses.Results:Four confirmed cases of dengue were found in Changzhou city, Jiangsu province, from October 18 to 21, 2023, with epidemiological association between the cases, which was recognized as a dengue outbreak. The serum RT-qPCR result of the four cases were all dengue type 1, and the whole genome sequences of three of the cases were obtained. The evolutionary tree of the E gene and the whole genome showed that the three sequences were located in the 3rd branch of the 1-I genotype, which is similar to the genotype 1-I. The genome-wide sequences of the E gene and the genome-wide evolution tree showed that the three sequences were located in the 3rd branch of the 1-I genotype, which is similar to the genome-wide genotype 1-Ⅰ. The E gene and the genome-wide evolutionary tree showed that all three sequences were located on branch 3 of genotype 1-Ⅰ, with high sequence similarity to the dengue virus epidemic strains in Guangdong and Yunnan provinces in 2023. Amino acid variant site analysis showed that there were 16 branch-specific amino acid site changes in the sequences of the three cases, among which the structural proteins, C protein and prM protein, had one variant site each, E protein had two, and the non-structural proteins had the largest number of NS5 variant sites (9).Conclusions:The local outbreak in Jiangsu was caused by dengue fever type 1 virus, with high nucleotide sequence similarity to strains from other regions of China, and amino acid site alterations.

Objective:To investigate the effects of area of the posterior malleolus fracture and injury to the distal tibiofibular syndesmosis on functional recovery of the ankle joint in Bartoní?ek type 2 ankle fractures.Methods:A retrospective analysis was conducted of the clinical data of 47 patients with Bartoní?ek type 2 ankle fracture who had been treated at Department of Orthopedics, Huashan Hospital Affiliated to Fudan University from January 2016 to January 2022. There were 22 males and 25 females with an age of (46.0±15.6) years. All patients were treated by open reduction and closed reduction. Pearson correlation analysis and multiple regression analysis were used to investigate the relationships respectively between the American Association of Foot and Ankle Surgeons (AOFAS) ankle-hindfoot scores at the last follow-up and the preoperative proportion of posterior ankle fracture area, and the anterior and posterior tibiofibular distances.Results:All patients were followed up for (17.2±0.6) months after surgery. The Pearson correlation analysis showed that the proportion of posterior ankle fracture area ( P=0.160) and the posterior tibiofibular distance ( P=0.078) were significantly correlated with the AOFAS ankle-hindfoot score at the last follow-up. There was no significant correlation between the anterior tibiofibular distance and the AOFAS ankle-hindfoot score at the last follow-up ( P=0.689). The multiple regression analysis showed that the proportion of posterior ankle fracture area ( P=0.043) and the posterior tibiofibular distance ( P=0.022) had significant negative effects on the AOFAS ankle-hindfoot score at the last follow-up. Conclusions:In Bartoní?ek type 2 ankle fractures, the proportion of posterior ankle fracture area and the posterior tibiofibular distance are important predictors for postoperative functional recovery of the ankle. Therefore, in Bartoní?ek type 2 ankle fractures, surgical indications for the posterior malleolar fracture depend not only on the size of the fracture, but also on whether the fracture involves the lower tibiofibular syndesmosis.