Objective:To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. Methods:Four children with KS diagnosed at the Children′s Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c. 16472_16473del, c. 858dup, c. 11899C>T, and c. 12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. Conclusion:For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Objective:To investigate the factors influencing the decision to delivery interval (DDI) in emergency cesarean section in Guangzhou and the impact of DDI on maternal-infant outcomes.Methods:A retrospective study was conducted on clinical data of pregnant women who underwent emergency cesarean section at municipal and district maternal and child health hospitals in Guangzhou city in 2021. Per the classification method of emergency cesarean section and recommendations for DDI provided by National Institute for Health and Clinical Excellence guidelines, these subjects were classified into Category Ⅰ and Category Ⅱ cesarean sections. Each category was further divided into two subgroups based on DDI: the Category Ⅰ group into >30 min and ≤30 min subgroups, and the Category Ⅱ group into >75 min and ≤75 min subgroups. Chi-square test or Fisher's exact test, two independent samples t-test, Mann-Whitney U test, and logistic regression were used to analyze the potential factors influencing DDI and the impact of DDI on maternal-infant outcomes. Results:(1) Totally 502 women underwent urgent cesarean section, including 304 (60.6%) Category Ⅰ and 198 (39.4%) Category Ⅱ, were analyzed. Among the Category Ⅰ group, 30.3% (92/304) achieved a DDI of ≤30 min, while 37.4% (74/198) of Category Ⅱ cases had a DDI of ≤75 min. (2) For the Category Ⅰ cases, multivariate logistic regression showed that more patients under intravertebral anesthesia, than those under general anesthesia, had a DDI >30 min ( OR=14.04, 95% CI: 6.14-32.10) as well as more with ward-based emergencies than those with delivery room emergencies ( OR=3.21, 95% CI: 1.72-6.00, both P=0.001). Among the Category Ⅱ cases, logistic regression revealed that cesarean section during routine working hours was more likely to achieve DDI >75 min than that during resting hours ( OR=3.93, 95% CI: 2.03-7.63, P=0.001). The risk of DDI >75 min was higher in tertiary maternal and child health hospitals compared with secondary maternal and child health hospitals ( OR=2.45, 95% CI: 1.06-5.70, P=0.037). (3) Among the Category Ⅰ cases, compared with the DDI ≤30 min group, the DDI >30 min group had a lower risk of neonatal Apgar score ≤7 at 1 min ( OR=0.31, 95% CI: 0.14-0.69, P=0.004), but there was no significant difference in the risk of neonatal Apgar score ≤7 at 5 min ( OR=0.21, 95% CI: 0.04-1.17) or neonatal asphyxia ( OR=0.32, 95% CI: 0.07-1.44) between the two subgroups. In cases of Category Ⅱ cesarean sections, there was no significant difference in any maternal-infant outcomes between DDI ≤75 min and DDI >75 min subgroups. Conclusions:The location of emergency and types of anesthesia are the influencing factors of DDI for Category Ⅰ cesarean sections, while the operation time and level of maternal and child health hospital are the influencing factors of DDI for Category Ⅱ cesarean sections. We did not find any impact of DDI on maternal or infant outcome.

End-stage renal disease (ESRD) patients undergoing outpatient hemodialysis (HD) and home peritoneal dialysis (PD) are high risk population of severe and critical types caused by SARS-CoV-2 infection. In order to improve the quality of diagnosis and treatment in dialysis patients with SARS-CoV-2 infection, we wrote this recommendation for primary care clinicians. During the epidemic period of SARS-CoV-2 infection, all patients should be instructed to strengthen self-management. Once the SARS-CoV-2 infection was found in dialysis patients, early stratified management should be carried out within 72 hours after the first positive nucleic acid or antigen test results, which includes early antiviral therapy, early recognition, and transferring severe patients from community or primary hospital to a referral hospital promptly. Guidance for dietary and sports rehabilitation after SARS-CoV-2 infection should also be started as soon as possible.

Vincristine, a widely used chemotherapeutic agent for treating different cancer, often induces severe peripheral neuropathic pain. A common symptom of vincristine-induced peripheral neuropathic pain is mechanical allodynia and hyperalgesia. However, mechanisms underlying vincristine-induced mechanical allodynia and hyperalgesia are not well understood. In the present study, we show with behavioral assessment in rats that vincristine induces mechanical allodynia and hyperalgesia in a PIEZO2 channel-dependent manner since gene knockdown or pharmacological inhibition of PIEZO2 channels alleviates vincristine-induced mechanical hypersensitivity. Electrophysiological results show that vincristine potentiates PIEZO2 rapidly adapting (RA) mechanically-activated (MA) currents in rat dorsal root ganglion (DRG) neurons. We have found that vincristine-induced potentiation of PIEZO2 MA currents is due to the enhancement of static plasma membrane tension (SPMT) of these cells following vincristine treatment. Reducing SPMT of DRG neurons by cytochalasin D (CD), a disruptor of the actin filament, abolishes vincristine-induced potentiation of PIEZO2 MA currents, and suppresses vincristine-induced mechanical hypersensitivity in rats. Collectively, enhancing SPMT and subsequently potentiating PIEZO2 MA currents in primary afferent neurons may be an underlying mechanism responsible for vincristine-induced mechanical allodynia and hyperalgesia in rats. Targeting to inhibit PIEZO2 channels may be an effective analgesic method to attenuate vincristine-induced mechanical hypersensitivity.

Objective This study aims to explore the formation of the dilemma of"giving care"for disabled elderly people in nursing homes from the perspective of active health.Methods Purposive sampling was used to select caregivers and disabled elderly people from a nursing home in Chongqing as research subjects from July 2022 to December 2022.One-on-one in-depth interviews were conducted and Colaizzi's 7-step thematic analysis method was employed to collect and analyze the interview data.Results 4 themes were identified:①the dominance of the"giving"care concept,including the cultural thoughts of filial piety,passive acceptance of care characteristics and consumer psychology regarding paid services;②insufficient"participation"care ability,including lack of knowledge regarding active health and a weakening of skills to promote participation;③the hindrance to"transformation"of care models,including objective limitations in terms of human resources and delays in adapting aging environments;and ④the decline in"utilization"of internal abilities,including excessive avoidance of potential risks,a heavy workload of care and poor quality of individual care.Conclusion The formation of the dilemma of"giving care"for disabled elderly people in nursing homes is affected by multiple factors such as social background,service system,supply resources,and management mode.Transforming disabled elderly individuals from a state of"passive giving care"to"active participation in their health"is an important measure to realize the concept of positive aging and healthy aging.

OBJECTIVE To explore the feasibility of microfluidic chip in the rapid detection of pesticide residues in Dendrobium officinale. METHODS The sample was extracted with organic solvent, and purified with QuEChERS dispersive SPE, high throughput screening of enzymes for pesticide residue detection from different manufacturers by centrifugal microfluidic chips. The matrix interference was investigated by negative samples with different horizontal adding methods. The sensitivity, repeatability sand accuracy of the microfluidic chip were investigated, and sample results determined by mass spectrometry were compared with them. RESULTS The results revealed that the significant difference rate of rapid detection method was 0.25; the sensitivity was 99.6%; the specificity was 96.4%; the false negative rate was 0.39%; the false positive rate was 3.57%; the accuracy was 98.81%. Two methods of rapid detection of pesticide residues by microfluidic chip and mass spectrometry were used to detect 40 batches of samples. The results indicated that the two methods had a high consistency, compliance rate of testing results were 100%. CONCLUSION Microfluidic chip rapid detection technology can be used for detecting pesticide residues in Dendrobium officinale, which can meet the screening needs of the basic non-professional person to detect the quality of large quantities of pesticide residues.

Objective:To observe the effect of medium-length intravenous catheter infusion on the intima and hemodynamics of the implanted blood vessel, in order to early detect the asymptomatic ultrasound imaging manifestations of indwelling blood vessel injury in patients, and observe the occurrence of catheter-related complications.Methods:Totally 105 patients who had medium-length venous catheters inserted through the upper arm in Huangshi Central Hospital from July to December 2021 were selected by random sampling. A self-control study was adopted. According to the time of data collection, they were divided into pre-catheterization group and the post-extubation group. Color Doppler ultrasonography was used to observe the image morphology, blood flow velocity, and blood flow of the vein intima at the outlet of the catheter tip before catheterization and after extubation, and to monitor the incidence of catheter-related complications. Among the 105 patients, 5 cases dropped out, and the effective sample size was 100 cases.Results:Among the 100 patients, before catheterization and after extubation, the vascular intima at the indwelling catheter tip showed no damages such as roughness and thickening; there was no statistically significant difference in venous blood flow velocity and the blood flow at the catheter tip before and after catheter extraction ( P>0.05) . There were 5 cases (4.76%, 5/105) of catheter-related complications. Conclusions:Medium-length intravenous catheter infusion of hyperosmolar parenteral nutrition solution does not significantly affect the morphology and hemodynamics of the intima of the implanted vessel, the implanted vessel is not damaged, and no serious complications such as catheter-related thrombosis and bloodstream infection occur, which achieve relatively safe clinical outcomes.

ObjectiveTo study the clinical efficacy of dapagliflozin combined with Shexiang Baoxinwan （SXBXW） in the treatment of acute heart failure with reduced ejection fraction （HFrEF） and syndrome of Qi deficiency and blood stasis. MethodA total of 176 patients hospitalized due to acute HFrEF （syndrome of Qi deficiency and blood stasis） were selected and randomized into control group， SXBXW group， dapagliflozin group， and SXBXW + dapagliflozin group （the latter three groups were called the intervention groups）. The New York Heart Association （NYHA） class， 6-minute walk test （6MWT） score， Kansas City Cardiomyopathy Questionnaire （KCCQ） score， traditional Chinese medicine （TCM） syndrome score， N-terminal pro-brain natriuretic peptide （NT-proBNP）， soluble suppression of tumorigenicity 2 （sST2）， interleukin-6 （IL-6）， and hypersensitive C-reactive protein （hs-CRP） of the patients were evaluated and measured at the time of admission， 1 week after treatment， and 2 weeks of treatment. Furthermore， the hospital stay， in-hospital mortality， and 30-day re-admission rate were recorded. Statistical analysis was performed to evaluate the efficacy of each group. ResultAfter 1 week of treatment， the SXBXW group exhibited superior NYHA class， KCCQ score， TCM syndrome score and curative effect， IL-6， and hs-CRP to the control group （P<0.05， P<0.01）. After 2 weeks of treatment， the SXBXW group showed superior TCM syndrome score， TCM curative effect， and hs-CRP （P<0.05， P<0.01） to the control group. The dapagliflozin group was superior to the control group in terms of TCM syndrome score， NT-proBNP， and sST2 （P<0.05， P<0.01） after 1 week of treatment and in terms of NYHA class， KCCQ score， NT-proBNP， sST2， and hospital stay （P<0.05， P<0.01） after 2 weeks of treatment. The SXBXW + dapagliflozin group exhibited better efficacy than the control group in terms of NYHA class， 6MWT score， KCCQ score， TCM syndrome score and curative effect， NT-proBNP， sST2， IL-6， and hs-CRP （P=0.014） after 1 week of treatment and in terms of NYHA class， KCCQ score， TCM syndrome score and curative effect， NT-proBNP， sST2， IL-6， hs-CRP， and hospital stay （P<0.01） after 2 weeks of treatment. ConclusionSXBXW and dapagliflozin have good therapeutic effect on acute HFrEF and syndrome of Qi deficiency and blood stasis， and their combination demonstrated better therapeutic effect， with good safety and tolerability.

Chlamydia, a gram-negative obligate intracellular pathogen, is a major cause of human reproductive tract, eye and respiratory tract infections. It replicates in a special membrane-binding chamber called inclusion and survives in the host′s hostile intracellular environment through secreting effectors, but requires host-derived lipids to grow and develop in the cells. Emerging evidences suggest that Chlamydia has evolved a variety of strategies to meet its lipid needs by interacting with host cell compartments and redirecting the transport pathway to its intracellular niche. This paper briefly described the pathway for obtaining host lipids and the mechanism of lipid metabolic during Chlamydia infection.

Objective To investigate aluminum content in commercially available flour products in Minhang District, Shanghai, and to assess the risk of dietary aluminum exposure among permanent residents in Minhang. Methods From 2018 to 2019, a total of 227 samples including fried flour products, steamed flour products, puffed products and baked flour products, were collected in Minhang District to detect the aluminum content. The food frequency table was used to investigate the consumption of flour foods by permanent residents in Minhang District and to assess population dietary aluminum exposure risk. Results The average content of aluminum in 227 kinds of flour products was 31.66 mg/kg, and the exceeding standard rate was 3.96%. The over-standard foods were all fried flour products, and the over-standard rate reached 10.47%. Moreover, the aluminum over standard rate of flour products produced by itinerant vendors and restaurants was significantly higher than that of flour products produced by supermarkets and manufacturers. The average dietary intake of aluminum in Minhang residents was 0.18 mg/kg per week, accounting for 9.03% of the provisional tolerable weekly intake (PTWI). The aluminum exposure of the population with high consumption of foods was 1.4 mg/kg per week, accounting for 69.90% of the PTWI. Among the four types of flour products, fried flour products had the highest contribution rate to aluminum exposure. The daily consumption of fried flour products in males was significantly higher than that in females (P<0.05), and the 18-34 age group was significantly higher than the 60 years old and above group (P<0.05). Conclusion The risk of the average dietary aluminum exposure of flour foods among Minhang residents is relatively low, but people with high consumption of foods would be confronted with increased health risks. It is necessary to strengthen the supervision on the use of aluminum-containing additives in itinerant vendors and restaurants, and actively advocate reducing the frequency and the consumption of fried flour products, thus reduce the exposure to the high risk of dietary aluminum in fried flour products