Objective: To establish a method for the genotyping of fetal M blood group antigen by extracting cell-free fetal DNA (cff-DNA) from maternal plasma, so as to guide the management of M antigen-negative pregnant women with IgG anti-M antibody during pregnancy. Methods: A realtime fluorescent quantitative PCR (realtime PCR) method was established. The specificity and sensitivity of the method were validated by dilution of genomic DNA. Subsequently, a total of 12 M antigen-negative pregnant women were enrolled. The cff-DNA was extracted from maternal plasma, and fetal M antigen genotyping was performed by realtime PCR. Fetuses were classified as M-positive or M-negative according to the presence or absence of amplification curve. The accuracy of the method was validated by comparing fetal M antigen genotyping results with the serological results using the cord or peripheral blood of the neonate at birth. Results: Among the 12 M antigen-negative pregnant women, anti-M was detected in five cases, of which four cases had IgG anti-M, and one case had fetal anemia. The results of fetal M antigen genotyping showed that 9 cases were M-positive (9/12, 75%) and 3 cases were M-negative (3/12, 25%). Serological results of blood samples collected after birth from four M-positive fetuses and one M-negative fetus were consistent with the genotyping results. Conclusion: We have, for the first time, established a non-invasive prenatal genotyping method for fetal M antigen using maternal plasma cff-DNA, and preliminarily demonstrated the feasibility of this method.

Objective: To conduct screening for rare blood types within important blood group systems for the Chinese population, such as Rh, Duffy, Kidd, P1Pk, Diego, and MNS, in the Guangzhou region, and to establish a corresponding rare blood type database and physical repository. Methods: The saline medium microplate method was used to screen blood donors with the ccDEE phenotype combined with either Jk(a-) or Jk(b-). The polybrene microplate method was employed to screen for donors with Fy(a-), s(-), Lu(b-), Di(b-), k(-), and p phenotypes. The urea lysis microplate method was applied to screen for the Jk(a-b-) phenotype. A high-resolution melting (HRM) curve method was established for screening some donors with the Di(b-) phenotype. Subsequently, expanded phenotyping of antigens in the Rh, Kidd, MNS, Duffy, P1Pk, Lewis, Kell, and Lutheran blood group systems was performed on identified rare blood type donors using monoclonal antibodies. The test results are entered into the Rare Blood Type Bank Management System of the Guangzhou Blood Center, enabling functions such as confirmation reminders and cryopreservation storage when the donor donates again. Red blood cells of rare blood types are processed into frozen red blood cells for long-term storage. Results: Among voluntary blood donors, 16 cases of the ccDEE combined with Jk(a-) phenotype were identified (0.221 7%, 16/7 216); 10 cases of the ccDEE combined with Jk(b-) phenotype (0.138 6%, 10/7 216); 78 cases of the Fy(a-) phenotype (0.169 5%, 78/46 012); 39 cases of the Lu(b-) phenotype (0.138 2%, 39/28 214); 31 cases of the s(-) phenotype (0.081 8%, 31/37 913); 22 cases of the Di(b-) phenotype (0.029 9%, 22/73 691); 30 cases of the Jk(a-b-) phenotype (0.010 1%, 30/298 250); and 1 case of the k(-) phenotype (0.001 3%, 1/77 382), which was further identified as KELnull phenotype (K0). No p phenotype donors were identified (0/88 528). A total of 228 units of frozen red blood cells were prepared. The screening results were compared and analyzed with rare blood type data from other regions. Conclusion: This study, through a combination of different screening methods, significantly improved the efficiency of rare blood type screening while remaining cost-effective. By conducting large-scale screening and performing data informatization processing, a database and physical repository of rare blood types in the Guangzhou region were successfully established. This provides a strong guarantee for the timely supply of blood to patients with difficult-to-match and rare blood types in the region, effectively enhances the level of transfusion safety in the region, and offers a practical paradigm for constructing a comprehensive blood transfusion support system.

The v-Raf murine sarcoma viral oncogene homolog B (BRAF) gene is one of the most critical proto-oncogenes and functions as a key regulator in the mitogen-activated protein kinase (MAPK)/extracellular signal-regulated kinase (ERK) signaling pathway. The incidence of BRAF mutations in non-small cell lung cancer (NSCLC) patients ranges from 1.5% to 5.5%, with BRAF V600 mutations accounting for approximately 30%-50% of all BRAF mutations, among which BRAF V600E represents the most prevalent mutation type. Currently, the combination of Dabrafenib and Trametinib has been recommended as first-line therapy for BRAF V600-mutant NSCLC by multiple domestic and international guidelines including National Comprehensive Cancer Network (NCCN), European Society of Medical Oncology (ESMO), and Chinese Society of Clinical Oncology (CSCO). However, there are no clear targeted treatment recommendations for BRAF non-V600 mutations. Although case reports suggest that Dabrafenib combined with Trametinib may be effective for patients with BRAF non-V600 mutations, the efficacy and safety require further validation due to limited sample size and lack of large-scale clinical trial data. This article reports a case of NSCLC with a rare BRAF insertion and deletion mutation that responded well to the treatment of Dabrafenib in combination with Trametinib, aiming to enhance clinicians' understanding of such NSCLC cases with extremely rare mutation and provide a reference for future treatment strategies.
.
Humans ; Carcinoma, Non-Small-Cell Lung/pathology* ; Imidazoles/administration & dosage* ; Lung Neoplasms/pathology* ; Mutation ; Neoplasm Metastasis ; Oximes/administration & dosage* ; Proto-Oncogene Mas ; Proto-Oncogene Proteins B-raf/genetics* ; Pyridones/administration & dosage* ; Pyrimidinones/administration & dosage*

Carotid ultrasound is the primary imaging modality for evaluating carotid artery diseases.In recent years,novel ultrasound techniques such as pulse wave velocity imaging,shear wave elastography,superb microvascular imaging,three-dimensional ultrasound and contrast-enhanced ultrasound,have been employed in assessment of carotid pathologies,providing important evidences for clinical diagnosis and prognostic evaluation.The progresses of clinical applications of carotid ultrasound were reviewed in this article.

Objective:To analyze the factors associated with non-radiographic bone erosion in gout pa-tients,to improve the understanding of bone erosion in gout,and to promote the early detection of bone erosion.Methods:A retrospective analysis was conducted on the medical records of gout patients treated at Beijing Jishuitan Hospital from January 2018 to January 2022.Bone erosion was detectable by ultra-sound but not detected by X-ray as non-radiographic bone erosion;no bone erosion was detected by both ultrasound and joint X-ray as undetected bone erosion.A case-control study was used,and the two groups were matched 1∶2 according to age and sex.The differences between the two groups were com-pared in terms of general information,joint involvement characteristics,laboratory indicators and compli-cations.In the univariate analysis,P＜0.1 was included in the multivariate analysis,and the conditional Logistic regression was used for the multivariate analysis.P＜0.05 was considered to have statistically significant differences.Results:Among the 41 patients with non-radiographic bone erosion,the top three joints with bone erosion before its occurrence were metatarsophalangeal joint(12 cases),ankle(10 ca-ses),and knee(7 cases).There were 82 patients undetected with bone erosion.There were no signifi-cant differences in general information between the two groups(P＞0.05),including age,gender,body mass index,and alcohol consumption history.The characteristics of affected joints in the non-radio-graphic bone erosion group were compared with those in the no bone erosion detected,and the former had more affected joints(P=0.02),and a higher proportion of patients with at least 3 attacks of gout per year(P＜0.001).There were no significant differences in serum uric acid,fasting blood glucose,cholesterol,triglycerides,low-density lipoprotein,high-density lipoprotein,creatinine,homocysteine,white blood cell count,and urine pH between the two groups(P＞0.05).The results of multivariate analysis showed that at least 3 flares of gout per year was an independent risk factor for radiologically negative bone erosion in patients with gout,with an OR(95％CI)of 5.139(1.529-17.271).Conclusion:At least 3 flares of gout per year predicts the occurrence of radiologically negative bone erosion,and these patients should be given more attention to achieving treatment targets.

Colorectal cancer is one of the common malignancies of the digestive system.Laparo-scopic surgery,as a minimally invasive procedure,has advantages such as minimal trauma,rapid re-covery,and shortened hospital stay,gradually becoming a main choice for treatment of digestive system diseases.However,anastomotic leakage remains one of the serious complications following this surger-y,impacting patients'recovery and prognosis.This review aimed to summarize and analyze recent re-search on anastomotic leakage after laparoscopic colorectal cancer surgery,exploring its pathogenesis,risk factors,preventive strategies,treatment and nursing measures,in order to provide a scientific ba-sis and guidance for clinical practice.

Objective To systematically search,evaluate,and summarize the evidence for risk management of breast and ovarian cancers in carriers of breast cancer susceptibility gene 1/2(BRCA1/2)mutations.Methods A systematic search was conducted in BMJ Best Practice,UpTo-Date,the National Guideline Clearinghouse(NGC),the National Institute for Health and Care Ex-cellence(NICE),the Scottish Intercollegiate Guidelines Network(SIGN),the Guidelines Interna-tional Network(GIN),the New Zealand Guidelines Group(NZGG),the Canadian Medical Associa-tion Infobase(CMA InfoBase),the Registered Nurses' Association of Ontario(RNAO),the National Comprehensive Cancer Network(NCCN),Cancer Care Ontario(CCO),the Medlive website,the American Society of Clinical Oncology(ASCO),the European Society for Medical Oncology(ESMO),the American Cancer Society(ACS),the American College of Obstetricians and Gynecologists(ACOG),the Joanna Briggs Institute(JBI),the Cochrane Library,PubMed,Web of Science,Em-base,CINAHL,ProQuest,ClinicalTrials.gov,China National Knowledge Infrastructure,Wanfang Data,VIP Database,and SinoMed for evidence related to risk management of breast and ovarian canc-ers in BRCA1/2 mutation carriers,including clinical decisions,guidelines,systematic reviews,expert consensus,and evidence summaries.The search period was from the inception of each database to September 20,2024.Results A total of 14 articles were included,comprising 1 clinical decision,8 guidelines,and 5 expert consensus documents.Based on five themes-risk assessment,risk moni-toring,risk-reducing surgery,pharmacologic prevention,and health guidance,a total of 24 pieces of evidence were summarized.Conclusion The evidence summarization process in this study is standardized,and the summarized evidence is relatively comprehensive.Healthcare professionals should comprehensively consider patients' individual characteristics,family history,personal prefer-ences,and the accessibility of healthcare resources to achieve effective prevention and control of he-reditary tumor risks.

Objective:To explore the application effect of a hierarchical training model based on the "geese formation effect" in the professional training of gastrointestinal center nurses.Methods:A total of 122 nurses at the Gastrointestinal Center of West China Hospital, Sichuan University, were randomly divided into an experimental group ( n=61) and a control group ( n=61). The experimental group received a hierarchical training model based on the "geese formation effect". Nurses in this group were divided into four levels of N1 to N4 according to seniority, corresponding to the roles of "young geese", "growing geese", "flying geese", and "leading geese/flying geese", and differentiated training content and formats were implemented. The control group received routine training. At the end of the training and at 3 and 6 months after the training, theoretical knowledge and operational skills were assessed, along with evaluations of job competency, professional characteristic indicators, and teaching satisfaction. The chi-square test and independent samples t-test were performed using SPSS 25.0. Results:At the end of the training and at 3 and 6 months after the training, compared with the control group, the experimental group achieved significantly higher scores in theoretical knowledge [(91.69±3.04) vs. (83.66±6.35), (89.42±3.29) vs. (81.33±5.79), (85.63±3.67) vs. (76.59±6.48)] and operational skills [(92.20±2.54) vs. (82.95±6.09), (90.15±2.83) vs. (81.61±5.47), (89.24±3.18) vs. (78.91±5.89)] (all P<0.001). The total score of job competency in the experimental group was higher than that in the control group. For the professional characteristic indicators, the experimental group also outperformed the control group in the implementation rate of postoperative pressure ulcer prevention (90.16% vs. 72.13%) and the ERAS compliance rate (93.44% vs. 80.33%) (both P<0.05). The total score of training satisfaction was higher in the experimental group than in the control group. Conclusions:The hierarchical training model based on the "geese formation effect" can effectively improve the theoretical knowledge, operational skills, job competency, and clinical nursing quality of nurses, with high teaching satisfaction and promotion value.

Objective To evaluate the value of high-resolution magnetic resonance vessel wall ima-ging(HRMR-VWI)in assessment of the severity of vascular stenosis in elderly patients with acute cerebral infarction(ACI).Methods A total of 127 elderly ACI patients admitted to our department between May 2021 and January 2024 were retrospective enrolled,and according to the degree of vascular stenosis by digital subtraction angiography(DSA),they were divided into a normal group(31 cases),a mild group(40 cases),a moderate group(40 cases),and a severe group(16 cases).DSA and HRMR-VWI were performed to evaluate the plaque and severity of vascular stenosis.ROC curve was plotted to evaluate the diagnostic value of HRMR-VWI parame-ters for the degree of vascular stenosis in the elderly ACI patients,and the AUC values of these parameters were calculated.Results Significant differences were observed in the HRMR-VWI pa-rameters such as plaque area and plaque burden among the normal,mild,moderate and severe groups(P＜0.01).ROC curve analysis showed that the AUC value of the combined plaque area and plaque burden in diagnosis of mild,moderate and severe vascular stenosis in elderly ACI pa-tients was obviously higher than that of the two parameters alone(0.964 vs 0.822,0.843,P＜0.05;0.930 vs 0.795,0.776,P＜0.05;0.917 vs 0.786,0.792,P＜0.05).Conclusion HRMR-VWI can effectively evaluate vascular stenosis in elderly ACI patients,which providing important refer-ence for early treatment and prognosis improvement.

Kinesiophobia is prevalent among school-aged children with asthma,and severe kinesiophobia can hinder their participation in physical activities and disease control,adversely affecting their physical and mental health.This paper reviews the concept,development,assessment tools,influencing factors,and intervention strategies of kinesiophobia in school-aged children with asthma,analyzes existing challenges,and proposes directions for future research.It aims to provide insights for developing scientific and personalized intervention plans to enhance children's exercise levels and improve their quality of life.