Objective: To reveal the molecular biological mechanism of a rare Dc-variant individual using PacBio third-generation sequencing technology. Methods: ABO and Rh blood type identification, DAT, unexpected antibody screening and D antigen enhancement test were conducted by serological testing. The absorption-elution test was used to detect the e antigen. RHCE gene typing was performed by PCR-SSP, and the 1-10 exons of RHCE were sequenced by Sanger sequencing. The full-length sequences of RHCE, RHD and RHAG were detected by PacBio third-generation sequencing technology. Results: Serological findings: Blood type O, Dc-phenotype, DAT negative, unexpected antibody screening negative; enhanced D antigen expression; no detection of e antigen in the absorption-elution test. PCR-SSP genotyping indicated the presence of only the RHCE c allele. Sanger sequencing results: Exons 5-9 of RHCE were deleted, exon 1 had a heterozygous mutation at c. 48G/C, and exon 2 had five heterozygous mutations at c. 150C/T, c. 178C/A, c. 201A/G, c. 203A/G and c. 307C/T. Third-generation sequencing results: RHCE genotype was RHCE 02N. 08/RHCE-D(5-9)-CE; RHD genotype was RHD 01/RHD 01; RHAG genotype was RHAG 01/RHAG 01 (c. 808G>A and c. 861G>A). Conclusion: This Dc-individual carries the allele RHCE 02N. 08 and the novel allele RHCE-D(5-9)-CE. The findings of this study provide data support and a theoretical basis for elucidating the molecular mechanisms underlying RhCE deficiency phenotypes.

[Abstract] [Objective] To evaluate the immunogenicity of red blood cell blood group antigens in the population of Xi'an. [Methods] Data on blood group antigens of voluntary blood donors from the Shaanxi Province Blood Center and unexpected antibody detection results from clinically submitted cases between January 2019 and May 2024 were analyzed. The Giblett blood group antigen immunogenicity calculation formula was used to calculate the immunogenicity of blood group antigens based on the frequency of unexpected antibodies and the probability of antigen-negative patients receiving antigen-positive red blood cells. The relative immunogenicity of each blood group antigen was obtained by multiplying the immunogenicity of the K antigen (0.095). [Results] A total of 30 921 individuals were included for red blood cell blood group antigen analysis, with 511 cases of unexpected antibody identification. The ranking of red blood cell blood group antigen immunogenicity for the overall population was: Wr^a>E>Di^b>Fy^a>K>C>e>c>Di^a>Jk^a>M>Le^a>Jk^b>Le^b>Fy^b>S, while for males, it was: Di^b>Wr^a>E>K>Fy^a>C>e>c>M>Di^a>Jk^a>Fy^b>Le^a>Le^b>Jk^b>S. [Conclusion] Based on the immunogenicity ranking from strong to weak of red blood cell antigens in the population of Xi'an, this study provides theoretical support for the expansion and matching of antigens, and technical support for achieving precise red blood cell transfusions to improve transfusion efficacy and safety.

Objective:To analyze the clinical features of postpartum hepatitis flares in pregnant women with hepatitis B virus (HBV) infection.Methods:A retrospective study was conducted. Patients who met the enrollment criteria were included. Liver function and HBV virology tests were collected from pregnant women with chronic HBV infection at delivery, 6, 24, 36, and 48 weeks after delivery through the hospital information and test system. Additionally, antiviral therapy types and drug withdrawal times were collected. Statistical analysis was performed on all the resulting data.Results:A total of 533 pregnant women who met the inclusion criteria were included, with all patients aged (29.5±3.7) years old. A total of 408 cases received antiviral drugs during pregnancy to interrupt mother-to-child transmission. There was no significant difference in the levels of alanine aminotransferase (ALT, z ?=?-1.981, P ?=?0.048), aspartate aminotransferase (AST, z ?=?-3.956, P ?

Intravascular large B-cell lymphoma(IVLBCL)is an aggressive extranodal large B-cell lymphoma,cocurrence in the same organ with other malignancies is very rare,especially in the lung.Here,we report a rare case of lung adenocarcinoma with IVLBCL.The patient was admitted to the hospital due to diarrhea associated with fever and cough.A computed tomography(CT)scan of the chest showed an irregular patchy high-density shadow in the upper lobe of the right lung with ground-glass opacity at the margin.After admission,the patient was given anti-infection treatment,but still had inter-mittent low fever(up to 37.5 oC).The pathological diagnosis of percutaneous lung biopsy(PLB)was lepidic-predominant ad-enocarcinoma with local infiltration,which was proved to be invasive nonmucinous adenocarcinoma of the lung with IVLBCL after surgery.This paper analyzed the clinicopathological characteristics and reviewed the relevant literature to improve the knowledge of clinicians and pathologists and avoid missed diagnosis or misdiagnosis.

Humans ; Muscular Dystrophy, Duchenne/epidemiology* ; Prevalence ; Myocardium

Purpose: Oligometastatic non–small cell lung cancer (NSCLC) patients have been increasingly regarded as a distinct group that could benefit from local treatment to achieve a better clinical outcome. However, current definitions of oligometastasis are solely numerical, which are imprecise because of ignoring the biological heterogeneity caused by genomic characteristics. Our study aimed to profile the molecular alterations of oligometastatic NSCLC and elucidate its potential difference from polymetastasis. Materials and Methods: We performed next-generation sequencing to analyze tumors and paired peripheral blood from 77 oligometastatic and 21 polymetastatic NSCLC patients to reveal their genomic characteristics and assess the genetic heterogeneity. Results: We found ERBB2, ALK, MLL4, PIK3CB, and TOP2A were mutated at a significantly lower frequency in oligometastasis compared with polymetastasis. EGFR and KEAP1 alterations were mutually exclusive in oligometastatic group. More importantly, oligometastasis has a unique significant enrichment of apoptosis signaling pathway. In contrast to polymetastasis, a highly enriched COSMIC signature 4 and a special mutational process, COSMIC signature 14, were observed in the oligometastatic cohort. According to OncoKB database, 74.03% of oligometastatic NSCLC patients harbored at least one actionable alteration. The median tumor mutation burden of oligometastasis was 5.00 mutations/Mb, which was significantly associated with smoking, DNA damage repair genes, TP53 mutation, SMARCA4 mutation, LRP1B mutation, ABL1 mutation. Conclusion Our results shall help redefine oligometastasis beyond simple lesion enumeration that will ultimately improve the selection of patients with real oligometastatic state and optimize personalized cancer therapy for oligometastatic NSCLC.

Background/Aims: Previous studies reveal that immune-mediated neuroinflammation plays a key role in the etiology of esophageal achalasia. However, the understanding of leucocyte phenotype and proportion is limited. This study aim to evaluate the phenotypes of leukocytes and peripheral blood mononuclear cells transcriptomes in esophageal achalasia. Methods: We performed high-dimensional flow cytometry to identified subsets of peripheral leukocytes, and further validated in lower esophageal sphincter histologically. RNA sequencing was applied to investigate the transcriptional changes in peripheral blood mononuclear cells of patients with achalasia. Cell-type Identification by Estimating Relative Subsets of RNA Transcripts (CIBERSORT) was used for estimating the immune cell types. A differential gene expression analysis was performed and the differential expressed genes were subjected to gene ontology, Kyoto Encyclopedia of Genes and Genomes network, protein-protein interaction network construction. Results: An imbalance between innate and adaptive immune cells occurred in achalasia. Specifically, neutrophils and CD8+ T cells increased both in peripheral blood and lower esophageal sphincter in achalasia. Eosinophils decreased in peripheral blood but massively infiltrated in lower esophageal sphincter. CIBERSORT analysis of peripheral blood mononuclear cells RNA sequencing displayed an increased prevalence of CD8+ T cells. 170 dysregulated genes were identified in achalasia, which were enriched in immune cells migration, immune response, etc. Proton pump inhibitor analysis revealed the intersections and gained 7 hub genes in achalasia, which were IL-6, Toll-like receptor 2, IL-1β, tumor necrosis factor, complement C3, and complement C1q A chain. Conclusion Patients with achalasia exhibited an imbalance of systematic innate and adaptive immunity, which may play an important role in the development of achalasia.

Background: This study aimed to explore relationships between job stress and psychological adaptation and how they related to interpersonal needs through mood states among female migrant manufacturing workers. Methods: A cross-sectional survey was conducted in 16 factories in Shenzhen, China. Sociodemographic, job stress, psychological adaptation and other psychological information of was collected. Structural equation modeling was performed to delineate the internal relationship between variables. Results: The hypothetical structural equation model exhibited acceptable model fit among female migrant manufacturing workers (χ2 = 11.635, df = 2, χ2/df = 5.82, p = 0.003, RMSEA = 0.090, CFI = 0.972, SRMR = 0.020). Job stress was directly associated with mood states and interpersonal needs; Psychological adaptation was directly associated with mood states and indirectly associated with interpersonal needs; Bootstrapping tests demonstrated mediation effect of mood states in the way from psychological adaptation to interpersonal needs. Conclusion Female migrant manufacturing workers who suffered stress from job and the process of psychological adaptation may have worse mood states and workers with worse mood states are more likely to develop unmet interpersonal needs, a proximal factor of suicidal ideation.

【Objective】 To evaluate the application of monoclonal typing reagents and human anti-A/B antibodies for absorption-elution test in ABO grouping. 【Methods】 The specificity of monoclonal typing reagents and human anti-A/B antibodies with standard A, B, O and AB phenotypes at 4 ℃, room temperature, and 37 ℃ were compared. Affinity was evaluated by the titer, agglutination time and agglutination intensity of the reaction with A1/B cells. 29 samples with ABO discrepancy were tested to evaluate the ability of monoclonal typing reagents and human anti-A/B antibodies to detect weak antigens in absorption-elution test. 【Results】 The specificity and affinity of human anti-A/B antibodies are low, and monoclonal typing reagents have cross reactivity. Human anti-A/B antibodies can detect most weak antigens in absorption-elution test with no cross reactivity. 【Conclusion】 In ABO grouping, the human anti A/B antibody binding absorption-elution test can serve as a supplement method for identifying ABO weak antigens. Accurate results can be obtained with reasonable reagents and corresponding methodology in serological tests,thus ensuring the safety of blood transfusion.

【Objective】 To establish a rare blood group information supply platform in Shaanxi Province. 【Methods】 The rare blood group information supply platform consists of sample registration, result registration, donor files and inventory blood. The blood donation codes of voluntary blood donors were recorded for blood typing, and the antigen identification results of each blood group system were registered, all stored in the rare blood type information supply platform. When receiving an application for unusual or rare blood type missing multiple conventional antigens or a certain high-frequency antigen, the corresponding antigen negative blood donors and their blood status (in stock or not) were queried from the donor profile module of the platform, and the inventory of blood of rare blood type was monitored dynamically. 【Results】 The results showed that 5.060% (273/5 398) of rare Rh phenotype donors, 1.540‰ (51/33 010) of donors lacking multiple regular antigens, and 13 O-type donors lacking high-frequency antigens were recorded in the rare blood type information supply platform. Among them, 0.019‰ (3/158 484) of Jk(a-b-) phenotype, 0.436‰ (2/4 586) of Di(a+b-) phenotype, and 4.030‰ (8/1 983) of Fy (a-b+) phenotype were stored in the blood bank for rare blood type. 【Conclusion】 The establishment of rare blood group information supply platform can meet the urgent demand for blood of rare blood types in clinical practice and ensure the safety of blood transfusion.