It is difficult to distinguish between the brain metastasis progression (BMP) and brain radionecrosis (BRN) on the basis of 18F-3,4-dihydroxyphenylalanine positron emission tomography/computed-tomography (18F-FDOPA PET/CT) data. The advent of silicon photomultiplier (SiPM) PET technology makes it possible to study dynamic volumes and potentially improve diagnostic accuracy. We developed a method for processing 18F-FDOPA PET/CT in the differential diagnosis between BMP and BRN. The method involves a short (3-second) sampling time during a 4-minute acquisition on a SiPM-PET/CT machine. We prospectively included 15 patients and 19 metastases. All acquisitions were performed in list mode acquisition for 25 min on a four-ring SiPM PET/CT system. We calculated the ratios between the maximum activity in the lesion’s voxel and the mean activity in the contralateral region (VOImax/CLmean) or the mean activity in the white matter (VOImax/WMmean). Seven lesions were classified as BMP and twelve were classified as BRN. Statistically significant intergroup differences in the VOImax/CLmean and VOImax/WMmean activity ratios were observed for both the clinical volume and the early acquisition. The best performing quantitative variable was the VOImax/CLmean ratio on early acquisition, with a diagnostic accuracy of 94.7

PURPOSE:The objective of this phantom study was to determine whether breathing-synchronized, silicon photomultiplier (SiPM)-based PET/CT has a suitable acquisition time for routine clinical use.METHODS:Acquisitions were performed in list mode on a 4-ring SiPM-based PET/CT system. The experimental setup consisted of an external respiratory tracking device placed on a commercial dynamic thorax phantom containing a sphere filled with [F-18]-fluorodeoxyglucose. Three-dimensional sinusoidal motion was imposed on the sphere. Data were processed using frequency binning and amplitude binning (the "DMI" and "OFFLINE" methods, respectively). PET sinograms were reconstructed with a Bayesian penalized likelihood algorithm.RESULTS:Respiratory gating from a 150‑sec acquisition was successful. The DMI and OFFLINE methods gave similar activity profiles but both were slightly shifted in space; the latter profile was closest to the reference acquisition.CONCLUSION:With SiPM PET/CT systems, the amplitude-based processing of breathing-synchronized data is likely to be feasible in routine clinical practice.

BACKGROUND:The RH system is one of the most polymorphic blood group systems due to the proximity and opposite orientation of RHD and RHCE genes. Numerous alleles are described and can affect Rh protein expression. This complexity is especially evident in populations of African origin. We performed RHD and RHCE genotyping of the Noir Marron population in French Guiana. This population belongs to the Maroon community who are direct descendants of African slaves, who escaped from Dutch plantations, in the current day Suriname, during the 17th century. They represent an original ethnic group with highly blended culture.METHODS AND MATERIALS:A total of 89 DNA samples were collected from four different ethnic groups of the Noir Marron population of French Guiana. RHD and RHCE genotyping was performed using DNA microarray and/or sequencing.RESULTS AND DISCUSSION:Significant allelic diversity was shown, with 45% of individuals presenting an RHD gene variant (most common: RHD*DAU, RHD*DIVa, and RHD*DIIIa allele) and 9.4% with a partial D phenotype. Likewise, 85% presenting an RHCE gene variant and 9% a partial RH2 antigen. One original allele was identified in two D+ Noir Marron individuals: a hybrid RHD*DIIIa-CE(9)-D allele, encoding probably a partial D antigen and associated with an RHCE*ce(48C,733G,1006T) allele. The African diversity of RHD and RHCE genes is found in this population with preserved genetic but mixed cultural backgrounds. These data allow us to describe the characteristics of the RH system antigen and highlights a significant number of partial antigens with a risk of alloimmunization.

TransfusionVolume 61, Issue 2 p. E18-E20 REPORT OF NEW ALLELES OR ANTIGENS RHCE*01 (c.499A>G, p.Met167Val) allele: Weak RhE expression which does not require the E-specific proline 226 Elisabeth Durieux-Roussel, Corresponding Author Elisabeth Durieux-Roussel elisabeth.durieux-roussel@efs.sante.fr orcid.org/0000-0002-9451-4277 Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Correspondence Elisabeth Durieux-Roussel, Établissement Français du Sang PACA Corse, Laboratoire d'Immuno-Hématologie receveur, 149 boulevard Baille, 13005 Marseille, France. Email: elisabeth.durieux-roussel@efs.sante.frSearch for more papers by this authorLaurine Laget, Laurine Laget Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, FranceSearch for more papers by this authorLugdivine Filosa, Lugdivine Filosa orcid.org/0000-0002-6063-7279 Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this authorCaroline Izard, Caroline Izard Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, FranceSearch for more papers by this authorPascal Bailly, Pascal Bailly Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this authorJacques Chiaroni, Jacques Chiaroni Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this author Elisabeth Durieux-Roussel, Corresponding Author Elisabeth Durieux-Roussel elisabeth.durieux-roussel@efs.sante.fr orcid.org/0000-0002-9451-4277 Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Correspondence Elisabeth Durieux-Roussel, Établissement Français du Sang PACA Corse, Laboratoire d'Immuno-Hématologie receveur, 149 boulevard Baille, 13005 Marseille, France. Email: elisabeth.durieux-roussel@efs.sante.frSearch for more papers by this authorLaurine Laget, Laurine Laget Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, FranceSearch for more papers by this authorLugdivine Filosa, Lugdivine Filosa orcid.org/0000-0002-6063-7279 Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this authorCaroline Izard, Caroline Izard Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, FranceSearch for more papers by this authorPascal Bailly, Pascal Bailly Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this authorJacques Chiaroni, Jacques Chiaroni Laboratoire d'Immuno-Hématologie Receveur, Établissement Français du Sang PACA Corse, Marseille, France Établissement Français du Sang PACA Corse, Biologie des Groupes Sanguins, Marseille, France Aix Marseille Université, CNRS, EFS, ADES, "Biologie des Groupes Sanguins", Marseille, FranceSearch for more papers by this author First published: 05 January 2021 https://doi.org/10.1111/trf.16247Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume61, Issue2February 2021Pages E18-E20 RelatedInformation

Blood group systems were the first phenotypic markers used in anthropology to decipher the origin of populations, their migratory movements, and their admixture. The recent emergence of new technologies based on the decoding of nucleic acids from an individual's entire genome has relegated them to their primary application, blood transfusion. Thus, despite the finer mapping of the modern human genome in relation to Neanderthal and Denisova populations, little is known about red cell blood groups in these archaic populations. Here we analyze the available high-quality sequences of three Neanderthals and one Denisovan individuals for 7 blood group systems that are used today in transfusion (ABO including H/Se, Rh (Rhesus), Kell, Duffy, Kidd, MNS, Diego). We show that Neanderthal and Denisova were polymorphic for ABO and shared blood group alleles recurrent in modern Sub-Saharan populations. Furthermore, we found ABO-related alleles currently preventing from viral gut infection and Neanderthal RHD and RHCE alleles nowadays associated with a high risk of hemolytic disease of the fetus and newborn. Such a common blood group pattern across time and space is coherent with a Neanderthal population of low genetic diversity exposed to low reproductive success and with their inevitable demise. Lastly, we connect a Neanderthal RHD allele to two present-day Aboriginal Australian and Papuan, suggesting that a segment of archaic genome was introgressed in this gene in non-Eurasian populations. While contributing to both the origin and late evolutionary history of Neanderthal and Denisova, our results further illustrate that blood group systems are a relevant piece of the puzzle helping to decipher it.

Genetic risk score (GRS) analysis is a popular approach to derive individual risk prediction models for complex diseases. In venous thrombosis (VT), such type of analysis shall integrate information at the ABO blood group locus, which is one of the major susceptibility loci. However, there is no consensus about which single nucleotide polymorphisms (SNPs) must be investigated when properly assessing association between ABO locus and VT risk. Using comprehensive haplotype analyses of ABO blood group tagging SNPs in 5425 cases and 8445 controls from 6 studies, we demonstrate that using only rs8176719 (tagging O1) to correctly assess the impact of ABO locus on VT risk is suboptimal, because 5% of rs8176719-delG carriers do not have an increased risk of developing VT. Instead, we recommend the use of 4 SNPs, rs2519093 (tagging A1), rs1053878 (A2), rs8176743 (B), and rs41302905 (O2), when assessing the impact ofABOlocus on VT risk to avoid any risk misestimation. Compared with the O1 haplotype, the A2 haplotype is associated with a modest increase in VT risk (odds ratio, similar to 1.2), the A1 and B haplotypes are associated with an similar to 1.8-fold increased risk, whereas the O2 haplotype tends to be slightly protective (odds ratio, similar to 0.80). In addition, although the A1 and B blood groups are associated with increased von Willebrand factor and factor VIII plasma levels, only the A1 blood group is associated with ICAM levels, but in an opposite direction, leaving additional avenues to be explored to fully understand the spectrum of biological effects mediated by ABO locus on cardiovascular traits.

Introduction ABO blood group influence the risk of venous thrombosis (VT) by modifying A and B glycosyltransferases (AGT and BGT) activities that further modulates Factor VIII (FVIII) and von Willebrand Factor (VWF) plasma levels. The aim of this work was to evaluate the association of plasma GTs activities with VWF/FVIII plasma levels and VT risk in a case-control study. Materials and Methods 420 cases were matched with 420 controls for age and ABO blood group. GT activities in plasma were measured using the quantitative transfer of tritiated N-acetylgalactosamine or galactose to the 2’-fucosyl-lactose and expressed in disintegration per minute/30µL of plasma and 2 hours of reaction (dpm/30µL/2H). FVIII and VWF plasma levels were respectively measured using human FVIII-deficient plasma in a 1-stage factor assay and STA LIATEST VWF (Diagnostica Stago). Results A and B GT activities were significantly lower in cases than in controls (8119±4027 vs 9682±4177 dpm/30µL/2H, p=2.03 × 10 −5 , and 4931±2305 vs 5524±2096 dpm/30µL/2H, p=0.043 respectively). This association was observed whatever the ABO blood groups. The ABO A1 blood group was found to explain∼80% of AGT activity. After adjusting for ABO blood groups, AGT activity was not correlated to VWF/FVIII plasma levels. Conversely, there was a moderate correlation (ρ∼0.30) between BGT activity and VWF/ FVIII plasma levels in B blood group carriers. Conclusion This work showed, for the first time, that GT activities were decreased in VT patients in comparison to controls with the same ABO blood group. The biological mechanisms responsible for this association remained to be determined.

Malgre une cartographie toujours plus fine des genomes de Neandertal et de Denisova, on sait peu de choses sur les groupes sanguins des globules rouges de ces populations archaiques. Notre objectif est d’identifier le polymorphisme des groupes sanguins neandertaliens et denisoviens afin de retracer la diversite humaine archaique et actuelle, puis de discuter des aspects sanitaires et des vulnerabilites des populations archaiques. Nous avons analyse les sequences de haute qualite de trois Nean...

The authors have disclosed no conflicts of interest.

L'hémagglutination est la technique de référence pour la détermination d'un phénotype érythrocytaire. Néanmoins, cette technique sérologique présente des limites, et plus particulièrement dans certaines situations où le phénotypage érythrocytaire des patients ne peut être réalisé. Dans ce contexte, la détermination d'un génotype par biologie moléculaire permet d'obtenir un phénotype déduit pour le patient et ainsi de prévenir les risques d'allo-immunisation anti-érythrocytaire ou de limiter le risque d'incident transfusionnel. Pour répondre à cette problématique, nous avons développé un test moléculaire rapide et innovant permettant de déduire visuellement le phénotype étendu dans le cadre de la prise en charge transfusionnelle du patient. Cette technologie repose sur la co-amplification par PCR multiplexe de plusieurs fragments d'ADN génomique directement à partir de sang total, et sur l'utilisation d'un support type membrane Lateral-Flow pour la lecture visuelle des résultats. Les amplicons biotinylés et les réactifs de révélation migrent par capillarité dans la membrane. L'apparition de spots colorés, résultant de l'hybridation des amplicons biotinylés complexés avec les nanoparticules d'or et des sondes greffées sur la membrane, indique la présence des allèles correspondants. L'absence de coloration traduit l'absence des allèles concernés. Nous présentons les résultats de l'évaluation de cette technologie sur un panel d'échantillons de donneurs. Les résultats obtenus montrent que notre technologie brevetée, permet de déduire un phénotype érythrocytaire en une heure, pour six antigènes d'intérêt (JK1/JK2, FY1/FY2/FY2null et MNS3/MNS4).

BACKGROUND Due to the unavailability of immunological reagents, the Dombrock blood group is insufficiently explored in African populations and can be a source of alloimmunization. A large study including pygmoid and nonpygmoid ethnic groups from East, Central, and West continental Africa, together with African migrants like Comorians, Afro‐Caribbean from Martinique, and Maroons from French Guiana would be helpful to increase transfusion safety. STUDY DESIGN AND METHODS Using genomic DNA extracted from blood samples collected from 336 nonpygmoid and 51 pygmoid Africans as well as 268 samples of African descent, DO coding regions were PCR‐amplified and sequenced. RESULTS DO*A and DO*B alleles were detected in almost all groups, with a clear predominance of DO*B in every cohort tested. DO*JO and DO*HY allele frequencies reached 10% or more in several ethnic groups. DO*B‐SH‐Gln149Lys , DO*B‐Ile5Thr , and DO*DODE variants were identified both in African ethnic groups and outside Africa. Twelve novel variants were characterized on a DO*A or a DO*B background. Five of them were found in both African and migrant cohorts, the others were restricted to either within or outside Africa. No DO*DOYA , DO*DOLG , DO*DOLC , nor DO*DOMR variants were observed. A first phylogenetic tree was proposed including all variant alleles. CONCLUSION This study across continental Africa and countries with African migrants provides a useful overview of Dombrock allele diversity and distribution. The identification of 12 new alleles underlines the importance of genotyping for Dombrock alleles, particularly to improve transfusion safety in countries hosting migrant populations of African descent.

Les anti-KEL sont cliniquement importants dans le bilan immunologique. Aussi, nous avons étudié l'ADNg de patients présentant un phénotype KEL incertain ou une discordance phénotype-génotype. Détermination du phénotype KEL1 à l'aide des clones MS-56 (microcolonne) et K.1.1.21.HM.EF (microplaque) et KEL2 avec un anti-KEL2 polyclonal et monoclonal (microcolonne, anti-k Lk1). Une exploration par adsorption-élution (anti-KEL1 clone MS56, anti-KEL2 polyclonal) a été réalisée sur les échantillons KEL :1,-2 ainsi que sur les échantillons KEL :w1,2 (n = 2) ou 1,w2 (n = 2). Le génotype KEL*01/*02 a été déterminé via les kits KKD-Type, BAGene, BeadChip HEA, Immucor et un séquençage exonique. Quatre discordances génotype-phénotype ont été relevées, dont trois associées à une très faible expression de l'antigène KEL2 ou KEL1 décelée uniquement par absorption-élution. Les SNP observés sont : c.1537C > T (p.Arg513Trp) associé à 2 SNP synonymes c.648C > T et c.1680A > C (n = 2), c.1088G > A (p.Ser363Asn, KEL*02 M.01, n = 1) chez trois sujets KEL :1,-2 KEL*01/*02 et le SNP non-sens c.1546C > T (p.Arg516X) chez un individu KEL :− 1,2 KEL*01/*02 définissant un nouvel allèle KEL*01 nul. Les SNP synonymes c.1899A > G et c.1680A > C ont été retrouvés séparément chez 2 sujets KEL :w1,2 et le phénotype KEL :1,w2 a été associé au SNP non-sens c.1934C > T (p.Ala645Val). Cette étude réalisée à partir de 19.255 patients a permis l'identification de 5 allèles décrits : KEL*02 M.01, KEL*02 M.17, KEL*01(p.Leu633Leu), KEL*01(p.Pro633Pro), KEL*02(p.Ala645Val), un nouvel allèle KEL*02M(p.Arg513Trp) et un nouvel allèle KEL*01N(p.Arg516X) démontrant l'intérêt d'explorer toute ambiguïté KEL1/2.

The authors have disclosed no conflicts of interest.

Red cell polymorphisms can provide evidence of human migration and adaptation patterns. In Eurasia, the distribution of Diego blood group system polymorphisms remains unaddressed. To shed light on the dispersal of the Dia antigen, we performed analyses of correlations between the frequencies of DI*01 allele, C2-M217 and C2-M401 Y-chromosome haplotypes ascribed as being of Mongolian-origin and language affiliations, in 75 Eurasian populations including DI*01 frequency data from the HGDP-CEPH panel. We revealed that DI*01 reaches its highest frequency in Mongolia, Turkmenistan and Kyrgyzstan, expanding southward and westward across Asia with Altaic-speaking nomadic carriers of C2-M217, and even more precisely C2-M401, from their homeland presumably in Mongolia, between the third century BCE and the thirteenth century CE. The present study has highlighted the gene-culture co-migration with the demographic movements that occurred during the past two millennia in Central and East Asia. Additionally, this work contributes to a better understanding of the distribution of immunogenic erythrocyte polymorphisms with a view to improve transfusion safety.

Conventional blood group phenotyping by hemagglutination assays, carried out pretransfusion, is unsuitable in certain clinical situations. Molecular typing offers an alternative method, allowing the deduction of blood group phenotype from genotype. However, current methods require a long turnaround time and are not performed on-site, limiting their application in emergency situations. Here, we report the development of a novel, rapid multiplex molecular method to identify seven alleles in three clinically relevant blood group systems (Kidd, Duffy, and MNS). Our test, using a dry-reagent allele-specific lateral flow biosensor, does not require DNA extraction and allows easy visual determination of blood group genotype. Multiplex linear-afterthe-exponential (LATE)-PCR and lateral flow parameters were optimized with a total processing time of 1 h from receiving the blood sample. Our assay had a 100% concordance rate between the deduced and the standard serological phenotype in a sample from 108 blood donors, showing the accuracy of the test. Owing to its simple handling, the assay can be operated by nonskilled health-care professionals. The proposed assay offers the potential for the development of other relevant single nucleotide polymorphism (SNP) panels for immunohematology and new applications, such as for infectious diseases, in the near future.

Post-marital residence of spouses is one of the architects of population genetic structure. In the present study, we tested how the place of residence of males and females in Ngazidja, Comoros Islands, has unequally channeled, by dispersal among villages, the male and female genetic diversity. Using sequences of the hypervariable segment I of the mitochondrial DNA (mtDNA HVS-I) and six Y-chromosome microsatellites (Y-STRs), we measured the genetic variation and male-to-female effective number of migrants ratios based on FST values and revealed a genetic structure mostly driven by male gene flow across villages. This genetic feature illustrates the uxori-matrilocality inherited from the Bantu expansion, though one exception exists in Bandamadji whose historically documented military status implied patrilocality in this locality.