Background Accurate typing of the D antigen is critical to provide guidance for blood transfusion and safe management of Rh-incompatible pregnancies. RHD genotyping assays have been widely adopted to improve D variant detection, especially for common RHD alleles with missense variants and RHD-CE-D hybrids. Few structural variants of the RHD gene are known to involve large fragments of non-RH sequences, despite causing phenotype-genotype discrepancies. Methods We had previously detected reduced copy numbers of RHD exon 10 in Chinese Han. Their RHD genes were further analyzed using long-read sequencing of RHD and whole-genome long-read sequencing using PacBio platform. The population frequency and practical relevance were evaluated, such as effects on D antigen expression and accuracy of routine RHD genotyping assays. Results A novel structural variant of the RHD gene, dubbed RHD-CE-TMEM50A-D, had distinct features: a short deletion of the non-coding region of RHD exon 10 (688 bp del), a large insertion (21.8 kb ins) involving the inversion of non-coding region of RHCE exon 10 (174 bp) and exon 7 to intron 2 of TMEM50A gene (21,648 bp), and several single nucleotide substitutions. The large delins fragment was firstly found in 9 individuals, further representing 4.1% of random D+ donors (40/982), 2.9% of D-C+/E+ individuals who carry the non-functional RHD*01N.04 (6/205), and 3.4% of weak/partial D individuals (7/207) who carry RHD*DFR2 and RHD*DVI.3, but 0% in a different cohort of Asian-type DEL individuals (0/205). The large delins fragment located in non-coding region of RHD exon 10 of four different alleles did not significantly change the D antigen expression but caused inconclusive results in several routine RHD genotyping assays. Conclusions The novel RHD-CE-TMEM50A-D allele represented approximately 1 in 49 chromosomes among the southern Chinese Han population. The variations of these RHD alleles involve the replacement of some RHD-specific sequences by the corresponding RHCE-specific sequences in the non-coding region of RHD exon 10, commonly used for RHD-specific primers design in genotyping assay. Hence, red cell genotyping assays, if applied to individuals of East Asian heritage, should recognize this relatively common allele to avoid RHD allele dropout.

BACKGROUND:It has traditionally been considered that mother-infant ABO incompatibility only causes mild haemolytic disease of the newborn (HDN). However, this view is inconsistent with clinical practice, and large-scale population-based data are lacking to investigate its effects on neonates. METHODS:Differences in hospitalisation rates and incidence rates of neonatal hyperbilirubinaemia (NHB) and anaemia among 47 679 Chinese liveborn neonates with different mother-infant ABO combinations, differences in the incidence of ABO-incompatible HDN (ABO-HDN) among neonates with O-B versus O-A mother-infant ABO incompatibility, and the contributions of ABO-HDN to the development of NHB and neonatal anaemia were analysed. RESULTS:Of the 47 679 liveborn neonates, neonates with mother-infant ABO incompatibility had higher rates of hospitalisation and incidence of NHB and anaemia. The hierarchy of the risk of mother-infant ABO incompatibility to the neonate was O-B > O-A > non-O-A/O-B incompatibility. Among neonates with O-B and O-A mother-infant ABO incompatibility, the ABO-HDN incidence rates were 15.27% (513/3359) and 11.33% (417/3680), respectively (95% CI 1.41 (1.23 to 1.62)), and the severe ABO-HDN incidence rates were 2.05% (69/3359) and 1.14% (42/3680), respectively (95% CI 1.82 (1.23 to 2.67)). Among the 7039 neonates with O-A/O-B mother-infant ABO incompatibility, ABO-HDN was an independent aetiological factor in 41.11% (666/1620) of the neonates with NHB, 70.27% (52/74) of the neonates with severe NHB, 42.34% (163/385) of the neonates with anaemia and 18.28% (17/93) of the neonates with severe anaemia. CONCLUSIONS:Mother-infant ABO incompatibility often leads to severe HDN and is a dominant cause of NHB and neonatal anaemia, leading to significantly higher neonatal hospitalisation rates.

[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.

Industrial anomaly detection benefits from anomaly samples, yet newly deployed products typically provide only normal images, making anomaly samples difficult to collect. Zero-shot anomaly generation offers a promising solution which avoids collection of target-product anomalies. However, existing methods mainly rely on texture images or text descriptions as anomaly sources, which often produce unrealistic anomalies. Observing that similar anomalies can recur across different products, we propose anomaly transfer-based zero-shot generation, which reuses real anomalies from existing source products, making target-product anomalies no longer necessary to generate realistic anomalious samples for unseen target products. Since not every anomaly type suits the target product, an anomaly type filtering mechanism first selects plausible source types. To transfer selected anomaly, we propose DPA, a diffusion-based framework that decouples product-agnostic anomaly representations. Instead of directly extracting anomaly representations, DPA learns product-irrelevant anomaly embeddings through training with the mismatched data pair, enabling transferable anomaly concept learning across products. Furthermore, we design an adaptive mask-guided pipeline that leverages adaptive masks to control the positional and geometric plausibility of generated anomalies during generation. A training-free anomaly labeling module is further introduced to produce pixel-level annotations aligned with generated anomalies. Extensive experiments on MVTec-AD, VisA, and a dedicated anomaly-transfer benchmark demonstrate that the proposed setting and DPA generate more realistic anomalies and significantly improve downstream anomaly detection performance under both zero-shot and few-shot settings. Source code and models will be released.

BACKGROUND:The s antigen expression is mainly determined by a single nucleotide polymorphism at c.143C (p.Thr48) on the exon 4 of GYPB gene. Several mutations on the GYPB gene have been reported to cause aberrant s antigen expression. GP.Mur has an extra 31-amino acid insertion encoded by the active compound GYP(B-A) exon 3, which closely locates at the upstream of p.Thr48. It has been reported to cause altered s antigen expression. MATERIALS AND METHODS:Serologic testing and flow cytometry analysis were performed to detect s antigen expression on RBCs of GP(B-A-B) hybrid glycophorins, including GP.Mur, GP.Bun and GP.HF. Several mutant plasmids based on the different sites between GYPB and GYP(B-A-B) alleles were constructed and transfected into HEK293T cells for in vitro expression, to reveal the key amino acids for the aberrant s antigen expression. RESULTS:Serologic testing and flow cytometry assay showed the RBCs of GP.Mur homozygotes reacted positively with IgG anti-s (P3YAN3) but negatively with IgM anti-s (P3BER). Flow cytometry analysis also revealed half level of s antigen expressed on the RBCs of GP.Mur, GP.Bun and GP.HF heterozygotes with ss genotype compared to S-s+ controls when detected by IgM anti-s (P3BER). Furthermore, in vitro expression study showed that p.Asn45 is critical for the epitope expression of s antigen detected by IgM anti-s (P3BER). DISCUSSION:The results demonstrated partial s antigen expression on GP(B-A-B) RBCs. In addition to p.Thr48, p.Asn45 is also important for the epitope expression of s antigen detected by IgM anti-s (P3BER). To avoid false negative serologic typing, it is recommended to use several different clones of monoclonal anti-s for the correct s typing, especially in the regions with high frequency distribution of GP(B-A-B) hybrid glycophorins.

BackgroundThe antigen of H blood group system, synthesized by the fucosyltransferase encoded by FUT1 and FUT2 genes, is crucial in transfusion medicine. Traditional sequencing struggles with haplotype determination, necessitating advanced technologies like long-read sequencing.MethodsWe employed long-read sequencing to analyze FUT1 and FUT2 haplotypes in 154 individuals, including 138 multi-ethnic donors (46 Chinese Han, 49 Uyghur, and 43 Indian) and 16 para-Bombay cases.ResultsWe successfully reconstructed 8.5 kb FUT1 and 10.5 kb FUT2 haplotypes, identifying 44 and 82 single-nucleotide variants (SNVs), respectively. These SNVs allowed for the classification into four FUT1 and three FUT2 SNV patterns, reflecting ethnic diversity. Notably, pattern C for both FUT1 and FUT2 showed strong linkage disequilibrium (R2 = 0.84), consistent with their close genomic proximity, and was not observed in the Han populations. The prevalence of H-negative phenotype-related FUT2 alleles was markedly lower in Han (1.09%) compared to Uyghur (26.53%) and Indian (50.00%), explaining the rarity of the Bombay phenotype in Han. Furthermore, we found that a single allele named by ISBT can encompass multiple distinct haplotype sequences (spanning various patterns), revealing a level of diversity not captured by traditional SNV-based classifications.ConclusionsOur findings highlight the unique genetic patterns within FUT1/FUT2, characterized by specific SNVs, suggesting a need for more nuanced approaches to accurately capture genetic variation, evolutionary relationships, and clinical implications. This study establishes long-read sequencing as pivotal for blood group genetics, revealing population-specific evolutionary dynamics that clarify ethnic divergence in antigen expression and disease susceptibility.

BACKGROUND:D-- is a rare phenotype lacking the expression of the C, c, E, and e antigens and several high-frequency antigens on the red cells. Anti-Rh17 (Hr0) could be developed in individuals with the D-- phenotype to cause hemolytic transfusion reactions (HTR) and hemolytic disease of the fetus and newborn (HDFN). Nuleotide(s) change of the RHCE gene and RHCE-D-CE hybrid alleles are the common molecular basis of the D-- phenotype. STUDY DESIGN AND METHODS:One D-- Chinese patient detected in routine RhD and RhCE serologic testing and another D-- Chinese patient identified with anti-Rh17 were recruited. Further RHD, RHCE, and RHAG whole gene sequences were analyzed using the PacBio sequencing. A dual-luciferase reporter assay was performed to verify the effect of the variant identified in the promoter of the RHCE gene on the transcriptional activity of the reporter gene in vitro. RESULTS:A homozygous RHCE*Ce(1-111G)/Ce(1-111G) genotype and a heterozygous RHCE*CeN.08/Ce(1-111G) genotype carried one novel variant (c.1-111A>G) located in the GATA-1 motif of the RHCE proximal promoter was identified in two D-- patients, respectively. In the reporter assay, the luciferase transcriptional activity of the mutant RHCE promoter [c.1-111G] construct reduced from ~1.0 to 0.28 relative luciferase activity normalized to RHCE wild-type, with a ~72% reduction rate. CONCLUSION:The novel variant of the GATA-1 motif of the RHCE proximal promoter was identified to diminish the binding of the GATA-1 transcription factor and markedly down-regulate the transcription activity of the RHCE gene to abolish the expression of RhCE antigens, causing the rare D-- phenotype.

Industrial visual inspection is crucial for detecting defects in manufactured products, but it traditionally relies on human operators, leading to inefficiencies. Industrial Visual Anomaly Detection (IVAD) has emerged as a promising solution, with methods such as zero-shot, few-shot, and reconstruction-based techniques. However, zero-shot methods struggle with subtle anomalies, and reconstructionbased methods fail to capture fine-grained details. Few-shot methods, which use limited samples and prompts, offer a more efficient approach. Despite their promise, challenges remain in managing intra-class variation among references and in effectively extracting more representative anomaly features. This paper presents Retrieval-enhanced Multimodal Prompt Fusion FAnomaly Detection (ReMP-AD), a framework that introduces Intra-Class Token Retrieval (ICTR) to reduce noise in the memory bank and VisionLanguage Prior Fusion (VLPF) to guide the encoder in capturing more distinctive and relevant features of anomalies. Experiments on the VisA and MVTec-AD datasets demonstrate that ReMP-AD outperforms existing methods, achieving 97.8%/94.1% performance in 4-shot anomaly segmentation and classification. Our approach also shows strong results on the PCB-Bank dataset, highlighting its effectiveness in few-shot industrial anomaly detection. Code is available at https://github.com/cshcma/ReMP-AD.git

HLA-DPB1*1781:01 differs from HLA-DPB1*03:01:01:01 by one nonsynonymous nucleotide substitution in codon 5 in exon 1.

BACKGROUND:Previous studies have shown that both intronic and exonic variants in RHD, the gene encoding the D antigen in the Rh blood group system, can alter mRNA splicing at the qualitative and/or quantitative level(s), thus resulting in a D variant phenotype. Here, we sought to further document this mechanism by analyzing extensively RHD variants found in the Chinese population. STUDY DESIGN AND METHODS:From an in-house database of whole exome sequencing of over 27,000 gDNA samples from Chinese individuals, as well as from ten Chinese individuals presenting with a D variant phenotype, RHD variants were selected in a first round of in silico approaches previously used (i.e., Alamut suite splicing module and ΔtESRseq score) for functional analysis by minigene splicing assay. All variants were further reevaluated subsequently by two contemporary bioinformatics tools, that is, SpliceAI and SPiP. RESULTS:From the 269 single nucleotide variants (SNVs) included in the study, the 34 top-score SNVs were selected as potential candidates for altering RHD splicing and comprehensively analyzed at the functional level. We demonstrated that eight SNVs, including three located within the consensus splice sites (c.336-1G>C, c.801+2T>G, and c.940-2delA), four in proximal intronic regulatory regions (c.149-6G>A, c.939+5G>T, c.1154-8T>G, and c.1227+5G>C), and one in exon (c.318G>A) alter splicing with a moderate to severe effect. DISCUSSION:Our findings suggest that combining computational prediction with SpliceAI and/or SPiP using specific settings is an efficient approach (accuracy = 0.941) for selecting candidate SNVs that are prone to disrupt RHD splicing and alter D phenotype subsequently.

HLA-E*01:154 differs from HLA-E*01:01:01:01 by a single nonsynonymous nucleotide substitution in codon 199 of exon 3.

OBJECTIVE:To report the blood group antigen and antibody specificity identification methods for a patient with high-frequency antibodies, and the process of finding and providing compatible blood for the patient. METHODS:A patient sent from the Blood Transfusion Department of Shanxi Provincial People's Hospital to Blood Transfusion Technology Research Laboratory of Taiyuan Blood Center in November 2022 was selected for the study. Classical serological methods were used to determine the patient's blood type, screen for unexpected antibodies, identify antibodies, and perform crossmatching. High-frequency antibody identification was carried out using red blood cells treated with various enzymes. Blood group genotyping was conducted using Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF) and Sanger sequencing. Multiple strategies were employed to address the patient's blood source problem. The study was approved by the Medical Ethics Committee of Taiyuan Blood Center [Ethics No. 2024 Ethics Review No.(2)]. RESULTS:The patient's blood type was B, RhD positive. Initial screening of the patient's serum with multiple screening cells and antibody identification cells in saline medium was negative, but positive in antiglobulin medium. The patient's serum showed varying reaction intensities with red blood cells treated with different enzymes. MALDI-TOF mass spectrometry and Sanger sequencing revealed a homozygous nonsense variant c.376C>T (p.Gln126Ter) in the ABCG2 gene, resulting in the Jr(a-) phenotype. During family donor selection, the patient's son was found to have a heterozygous variant c.376C>T (p.Gln126Ter), and another heterozygous variant c.421C>A (p.Gln141Lys), which predicted a Jr(a+w) phenotype. Crossmatch tests confirmed the compatibility of blood from the patient's son, which was used to address the urgent blood requirement. Later, rare blood from a Jr(a-) donor from the Guangzhou Blood Center was used for the patient's ongoing treatment, saving the patient's life. CONCLUSION:Combining classic serological testing with blood group gene typing techniques successfully identified the rare Jr(a-) blood type and high-frequency anti-Jra antibodies. Enzyme-treated red blood cell identification methods confirmed the presence of anti-Jra antibodies. By searching within the family and seeking help from other blood centers, compatible blood was found. This approach may provide insights for resolving similar complex blood matching problems in the future.

BACKGROUND AND OBJECTIVES:Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHD*DEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHD*DEL1, who exhibit serologically weak/partial D phenotypes rather than the serologically D- phenotype, have also been described. Whether anti-D alloimmunization can occur among them was explored. MATERIALS AND METHODS:A retrospective study was carried out in 143 Chinese pregnant women identified as serologically weak/partial D phenotypes. The RHD*DEL1 allele was detected using the high-resolution melting method. Then, RHD genotyping was determined mainly by Sanger sequencing. D epitope expression was detected with the anti-D panel (D-Screen) by haemagglutination and adsorption/elution tests. RESULTS:RHD*DEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHD*DEL1/01N.01 or RHD*DEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHD*DEL1/weak or partial D allele, n = 8) were detected. A complete repertoire of D epitopes was shown in six weak/partial D women who simultaneously carried the RHD*DEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHD*DEL1, 24 types of RHD variant alleles, including six novel alleles, were detected. CONCLUSION:The RHD*DEL1 allele occurred often in the Chinese individuals with weak/partial D phenotypes who showed a lack of anti-D alloimmunization. Routine Asian-type DEL genotyping is recommended both in serologically D- and weak D/partial D individuals with East and Southeast Asian ancestry to consider Asian-type DEL carriers as D+ individuals during transfusion and pregnancy.

Background and Objectives The International Society of Blood Transfusion (ISBT) Working Party (WP) on Red Cell Immunogenetics and Blood Group Terminology (RCI&BGT) held six business meetings between December 2021 and June 2024. This report describes the new blood group systems and antigens ratified during these meetings.Materials and Methods Candidate systems and antigens were reviewed according to serological, genetic and biological evidence. This evidence was matched against defined criteria, and the acknowledged systems/antigens were assigned a unique identifier.Results Four new systems, ER (ISBT 044), CD36 (ISBT 045), ATP11C (ISBT 046) and MAL (ISBT 047), were ratified. CD36 and ATP11C were de novo entries, while ER and MAL systems resolved the genetic basis for the Er and AnWj antigens. Thirteen antigens were added to existing systems: one each to LU (005), YT (011), SC (013), LW (016), KN (022), GLOB (028); an antithetical pair to KEL (006); two antigens to RHAG (030); and three to CTL2 (039). Two CTL2 antigens defined the hitherto unresolved antithetical antigens, Csa/Csb, whose genetic basis coincides with those of variants responsible for the HNA-3a/3b neutrophil antigens, respectively.Conclusion As of June 2024, the ISBT has acknowledged 47 blood group systems, comprising 366 antigens. The WP continues to ratify new systems and antigens, which are available on the ISBT website (http://www.isbtweb.org/working-parties/red-cell-immunogenetics-and-blood-group-terminology/).

Action Quality Assessment (AQA) is a challenging task involving analyzing fine-grained technical subactions, aligning high-level visual-semantic representations, and exploring internal temporal structures that capture the overall meaning of given action sequences. To address these challenges, we propose a Visual-semantic Alignment Temporal Parsing Network (VATP-Net) to understand the high-level visual semantics of subaction sequences and internal temporal structures without explicit supervision for action quality assessment. The proposed approach designs a self-supervised temporal parsing module to generate subaction sequences from the given video by aligning the visual and semantic action features. It captures high-level semantics and the internal temporal dynamics of subaction sequences. Furthermore, a multimodal interaction module is proposed to capture the interaction between different modalities of action features, enabling a comprehensive assessment of fine-grained and scene-invariant action details. The proposed module captures the intricate relationships and encourages interactions between different modalities within an action sequence, enhancing the overall understanding of action assessment. We exhaustively evaluate our proposed approach on the MTL-AQA, Rhythmic Gymnastics (RG), FineFS, and Fis-V datasets. Extensive experimental results demonstrate the effectiveness and feasibility of our proposed approach, which outperforms state-of-the-art methods by a significant margin.