To identify clinical outcome of treatment and influencing factors of prognosis of extremely low birth weight infants(ELBWI).

OBJECTIVE: To analyze a Chinese pedigree affected with Non-syndromic autosomal recessive deafness type 12 (NFNB12), validate the function of candidate variants, and explore the underlying mechanisms. METHODS: A NFNB12 pedigree presented at Henan Provincial People's Hospital in February 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing of the pedigree members. Reverse transcription polymerase chain reaction (RT-PCR) was used to determine the level of mRNA transcription in the peripheral blood samples from the pedigree members, and protein expression was evaluated with Western blotting assay. This study was approved by Medical Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2019-134). RESULTS: WES analysis revealed that the proband has harbored homozygous c.6688delG (p.Ala2230Profs*4) variant of the CDH23 gene, for which both parents were identified as heterozygous carriers. RT-PCR analysis demonstrated the sole presence of the variant mRNA in the proband, and both the variant and wild-type mRNAs in both parents. Furthermore, Western blotting analysis indicated that the proband had exclusively expressed the truncated CDH23 protein, while both the normal and truncated forms of the protein were noted in her parents. CONCLUSION The c.6688delG (p.Ala2230Profs*4) variant of the CDH23 gene probably underlay the pathogenesis of NFNB12 in this pedigree. The loss of function of the CDH23 gene resulting from this variant is not related with nonsense-mediated mRNA decay, but rather production of a truncated protein. Above finding has not only enriched the mutational spectrum of the CDH23 gene and offered a method for investigating the function of its variants using peripheral blood samples, but also delineated the molecular basis for the loss of function, which has provided crucial evidence for genetic counseling and prenatal diagnosis for this family.
Humans ; Pedigree ; Male ; Female ; Asian People/genetics* ; Cadherins/genetics* ; Exome Sequencing ; Deafness/genetics* ; Mutation ; China ; Adult ; Cadherin Related Proteins ; Hearing Loss, Sensorineural/genetics* ; East Asian People

Objective:To analyze the feasibility and safety of breast-conserving surgery for young women with breast cancer whose tumor is close to nipple areola complex after neoadjuvant therapy.Methods:Young female breast cancer patients treated at Maoming People’s Hospital from Jan. 2016 to Jan. 2022 were selected. The inclusion criteria were primary solitary tumors located within ≤2 cm from the areola margin (excluding carcinoma in situ, nipple discharge, and Paget’s disease), tumor diameter ranging from 1 to 3 cm, and no abnormal adhesion between the tumor and the areola, breast skin, or chest wall. A total of 87 patients were enrolled, including 44 who underwent NAC-sparing breast-conserving surgery (NAC-preservation group) and 43 who underwent breast-conserving surgery without NAC preservation (non-NAC-preservation group). All patients received postoperative radiotherapy and continued systemic therapy. Local recurrence and distant metastasis were compared between the two groups.Results:No statistically significant differences were observed between the two groups in pre-neoadjuvant therapy tumor stage, tumor location, tumor diameter, lymph node metastasis, or molecular subtype ( χ2=0.22, 0.67, 0.80, 1.25, 1.76, respectively; P>0.05). At the 2-year postoperative follow-up, no local recurrence was detected in either group. Distant metastasis occurred in one case in the NAC-preservation group and three cases in the non-NAC-preservation group, with no statistically significant difference (2.27% vs. 6.98%, χ2=1.097, P=0.295) . Conclusions:This study, to some extent, validates the feasibility of both patient groups undergoing breast-conserving surgery with or without NAC preservation after neoadjuvant therapy, in young breast cancer patients with tumors located near the nipple areola complex. Routine NAC excision does not improve therapeutic outcomes.

Objective To explore the constituent elements of patients'sense of gain experience and provide theoretical insights for improving patient satisfaction with healthcare services.Methods Purposive sampling and convenience sampling were employed to select 46 experts in health management from universities,hospitals,government agencies,and academic societies across China for semi-structured interviews.Qualitative analysis of the interview data was conducted using grounded theory.Results Through three-level coding,159 initial concepts,19 categories,7 main categories,and 2 core categories were identified.A conceptual framework for the constituent elements of patients'sense of gain experience was constructed,centered on two core dimensions:micro-level experience and macro-level acquisition.Conclusion The concept of"patients'sense of gain experience"enriches the theoretical framework of"sense of gain"and breaks through the unidimensional approach to evaluating medical service quality.Its enhancement requires collaborative efforts from multiple stakeholders,including medical institutions,governments,policymakers,and other actors.

Objective:To analyze the feasibility and safety of breast-conserving surgery for young women with breast cancer whose tumor is close to nipple areola complex after neoadjuvant therapy.Methods:Young female breast cancer patients treated at Maoming People’s Hospital from Jan. 2016 to Jan. 2022 were selected. The inclusion criteria were primary solitary tumors located within ≤2 cm from the areola margin (excluding carcinoma in situ, nipple discharge, and Paget’s disease), tumor diameter ranging from 1 to 3 cm, and no abnormal adhesion between the tumor and the areola, breast skin, or chest wall. A total of 87 patients were enrolled, including 44 who underwent NAC-sparing breast-conserving surgery (NAC-preservation group) and 43 who underwent breast-conserving surgery without NAC preservation (non-NAC-preservation group). All patients received postoperative radiotherapy and continued systemic therapy. Local recurrence and distant metastasis were compared between the two groups.Results:No statistically significant differences were observed between the two groups in pre-neoadjuvant therapy tumor stage, tumor location, tumor diameter, lymph node metastasis, or molecular subtype ( χ2=0.22, 0.67, 0.80, 1.25, 1.76, respectively; P>0.05). At the 2-year postoperative follow-up, no local recurrence was detected in either group. Distant metastasis occurred in one case in the NAC-preservation group and three cases in the non-NAC-preservation group, with no statistically significant difference (2.27% vs. 6.98%, χ2=1.097, P=0.295) . Conclusions:This study, to some extent, validates the feasibility of both patient groups undergoing breast-conserving surgery with or without NAC preservation after neoadjuvant therapy, in young breast cancer patients with tumors located near the nipple areola complex. Routine NAC excision does not improve therapeutic outcomes.

Objective To explore the constituent elements of patients'sense of gain experience and provide theoretical insights for improving patient satisfaction with healthcare services.Methods Purposive sampling and convenience sampling were employed to select 46 experts in health management from universities,hospitals,government agencies,and academic societies across China for semi-structured interviews.Qualitative analysis of the interview data was conducted using grounded theory.Results Through three-level coding,159 initial concepts,19 categories,7 main categories,and 2 core categories were identified.A conceptual framework for the constituent elements of patients'sense of gain experience was constructed,centered on two core dimensions:micro-level experience and macro-level acquisition.Conclusion The concept of"patients'sense of gain experience"enriches the theoretical framework of"sense of gain"and breaks through the unidimensional approach to evaluating medical service quality.Its enhancement requires collaborative efforts from multiple stakeholders,including medical institutions,governments,policymakers,and other actors.

To explore the epidemiological characteristics of public health emergency events (PHEE) of varicella in the Beijing-Tianjin-Hebei region and analyze its related influencing factors. Excel was used to organize the varicella data in the Beijing-Tianjin-Hebei region from 2006 to 2021, reported by the management information system of PHEE, to describe the epidemiological characteristics of varicella events. Spatial autocorrelation and spatial scanning methods were used to test and determine its spatial clusters. Geographic detectors were used to analyze the impact of socio-economic factors. From 2006 to 2021, there were 644 reported varicella events in the Beijing-Tianjin-Hebei region, with a total of 18 052 cases and an incidence rate of 2.78%. The number, duration and response time M ( Q1, Q3) of each reported event were 22 (15, 35) cases, 19 (7, 34) days and 7 (4, 17) days, respectively. Hebei Province had a shorter response time and duration of events compared to Beijing and Tianjin. The most reported varicella events were in 2006 and 2007, with 112 and 106 events, respectively. By 2014, the number of events had decreased yearly, and there was a small peak from 2017 to 2019 between 2014 and 2021. From 2006 to 2021, the PHEE of varicella showed a seasonal bimodal distribution from March to June and from October to January of the following year, with peaks in May and December. There was a total of 500 reported varicella events in primary schools, including 218 events in rural primary schools (34%), 142 events in county and town primary schools (22%) and 140 events in urban primary schools (22%). The distribution of varicella events showed a positive spatial autocorrelation and strong spatial clustering, with Moran′s I of 0.31. The Class 1 clustering area was centered in Kuancheng Manchu Autonomous County, Chengde City, with a radius of 207 km and included 58 districts ( LLR=3 550.23, RR=3.78). The most explanatory factor among socio-economic factors was the proportion of the population aged 0-24 years old ( q=0.22), and the interaction effect between each factor was stronger than the independent effect. Overall, there are differences in the level of handling varicella events across Beijing, Tianjin and Hebei. The main occurrence of varicella events is in primary schools, especially in rural areas. Varicella events exhibit spatial clustering. Population structure-related factors have a strong impact on the risk of the incidence of varicella events.

Objective To systematically evaluate the risk factors for postoperative delirium after surgery for Stanford type A aortic dissection. Methods We searched the CNKI, SinoMed, Wanfang data, VIP, PubMed, Web of Science, EMbase, The Cochrane Library database from inception to September 2022. Case-control studies, and cohort studies on risk factors for postoperative delirium after surgery for Stanford type A aortic dissection were collected to identify studies about the risk factors for postoperative delirium after surgery for Stanford type A aortic dissection. Quality of the included studies was evaluated by the Newcastle-Ottawa scale (NOS). The meta-analysis was performed by RevMan 5.3 software and Stata 15.0 software. Results A total of 21 studies were included involving 3385 patients. The NOS score was 7-8 points. The results of meta-analysis showed that age (MD=2.58, 95%CI 1.44 to 3.72, P＜0.000 01), male (OR=1.33, 95%CI 1.12 to 1.59, P=0.001), drinking history (OR=1.45, 95%CI 1.04 to 2.04, P=0.03), diabetes history (OR=1.44, 95%CI 1.12 to 1.85, P=0.005), preoperative leukocytes (MD=1.17, 95%CI 0.57 to 1.77), P=0.000 1), operation time (MD=21.82, 95%CI 5.84 to 37.80, P=0.007), deep hypothermic circulatory arrest (DHCA) time (MD=3.02, 95%CI 1.04 to 5.01, P=0.003), aortic occlusion time (MD=8.94, 95%CI 2.91 to 14.97, P=0.004), cardiopulmonary bypass time (MD=13.92, 95%CI 5.92 to 21.91, P=0.0006), ICU stay (MD=2.77, 95%CI 1.55 to 3.99, P＜0.000 01), hospital stay (MD=3.46, 95%CI 2.03 to 4.89, P＜0.0001), APACHEⅡ score (MD=2.76, 95%CI 1.59 to 3.93, P＜0.000 01), ventilation support time (MD=6.10, 95%CI 3.48 to 8.72, P＜0.000 01), hypoxemia (OR=2.32, 95%CI 1.40 to 3.82, P=0.001), the minimum postoperative oxygenation index (MD=−79.52, 95%CI −125.80 to −33.24, P=0.000 8), blood oxygen saturation (MD=−3.50, 95%CI −4.49 to −2.51, P＜0.000 01), postoperative hemoglobin (MD=−6.35, 95%CI −9.21 to −3.50, P＜0.000 1), postoperative blood lactate (MD=0.45, 95%CI 0.15 to 0.75, P=0.004), postoperative electrolyte abnormalities (OR=5.94, 95%CI 3.50 to 10.09, P＜0.000 01), acute kidney injury (OR=1.92, 95%CI 1.34 to 2.75, P=0.000 4) and postoperative body temperature (MD=0.79, 95%CI 0.69 to 0.88, P＜0.000 01) were associated with postoperative delirium after surgery for Stanford type A aortic dissection. Conclusion The current evidence shows that age, male, drinking history, diabetes history, operation time, DHCA time, aortic occlusion time, cardiopulmonary bypass time, ICU stay, hospital stay, APACHEⅡ score, ventilation support time, hypoxemia and postoperative body temperature are risk factors for the postoperative delirium after surgery for Stanford type A aortic dissection. Oxygenation index, oxygen saturation, and hemoglobin number are protective factors for delirium after Stanford type A aortic dissection.

Objective The occurrence of chickenpox in rapidly developing areas poses substantial seasonal risk to children.However,certain factors influencing local chickenpox outbreaks have not been studied.Here,we examined the relationship between spatial clustering,heterogeneity of chickenpox outbreaks,and socioeconomic factors in Southern China. Methods We assessed chickenpox outbreak data from Southern China between 2006 and 2021,comprising both relatively fast-growing parts and slower sub-regions,and provides a representative sample of many developing regions.We analyzed the spatial clustering attributes associated with chickenpox outbreaks using Moran's I and local indicators of spatial association and quantified their socioeconomic determinants using Geodetector q statistics. Results There were significant spatial heterogeneity in the risk of chickenpox outbreaks,with strong correlations between chickenpox risk and various factors,particularly demographics and living environment.Furthermore,interactive effects among specific are factors,such as population density and per capita residential building area,percentage of households with toilets,percentage of rental housing,exhibited q statistics of 0.28,0.25,and 0.24,respectively. Conclusion This study provides valuable insights into the spatial dynamics of chickenpox outbreaks in rapidly developing regions,revealing the socioeconomic factors affecting disease transmission.These implications extend the formulation of effective public health strategies and interventions to prevent and control chickenpox outbreaks in similar global contexts.

Objective This study aimed to explore the heterogeneity and gene ontology of Wnt1-Cre-marked and Pax2-Cre-marked first branchial arch cranial neural crest cells(CNCs)in mice.Methods The embryos of Wnt1-Cre;R26RmTmG and Pax2-Cre;R26RmTmG at embryonic day(E)8.0-E9.25 were collected for histological observation.We per-formed immunostaining to compare green fluorescent pro-tein(GFP)-positive CNCs in Pax2-Cre;R26RAi9 and Wnt1-Cre;R26RAi9 mice at E15.5.Single-cell RNA sequencing(scRNA-seq)was used to analyze the first branchial arch GFP-positive CNCs from Wnt1-Cre;R26RmTmG and Pax2-cre;R26RmTmGmice at E10.5.Real time fluorescence quantitative polymerase chain reaction(q-PCR)was performed to val-idate the differential genes.Results Wnt1-Cre-marked and Pax2-Cre-marked CNCs migrated from the neural plateto first and second branchial arches and to the first branchial arch,respectively,at E8.0.Although Wnt1-Cre-marked and Pax2-Cre-marked CNCs were found mostly in cranial-facial tissues,the former had higher expression in palate and tongue.The results of scRNA-seq showed that Pax2-Cre-marked CNCs specifically contributed to osteoblast differentia-tion and ossification,while Wnt1-Cre-marked CNCs participated in limb development,cell migration,and ossification.The q-PCR data also confirmed the results of gene ontology analysis.Conclusion Pax2-Cre mice are perfect experimen-tal animal models for research on first branchial arch CNCs and derivatives in osteoblast differentiation and ossification.