Frequency and characterization of RHD and RHCE variants in the Noir Marron population from French Guiana.

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.

Phantom study of an in-house amplitude-gating respiratory method with silicon photomultiplier technology positron emission tomography/computed tomography.

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.

Blood groups of Neandertals and Denisova decrypted.

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.

Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation.

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.

ABO blood group, glycosyltransferase activity and risk of venous thromboembolism.

Introduction: ABO blood group influence the risk of venous thromboembolism (VTE) 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 VTE risk in a case-control study.

Materials And Methods: 420 cases were matched with 420 controls for age and ABO blood group.

DO/ART4 gene sequencing in sub-Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants.

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.

The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests.

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 Di 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.

Multiplex Lateral Flow Assay for Rapid Visual Blood Group Genotyping.

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.

Genes flow by the channels of culture: the genetic imprint of matrilocality in Ngazidja, Comoros Islands.

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 F values and revealed a genetic structure mostly driven by male gene flow across villages.

The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor.

At the dawn of the second millennium, the expansion of the Indian Ocean trading network aligned with the emergence of an outward-oriented community along the East African coast to create a cosmopolitan cultural and trading zone known as the Swahili Corridor. On the basis of analyses of new genome-wide genotyping data and uniparental data in 276 individuals from coastal Kenya and the Comoros islands, along with large-scale genetic datasets from the Indian Ocean rim, we reconstruct historical population dynamics to show that the Swahili Corridor is largely an eastern Bantu genetic continuum. Limited gene flows from the Middle East can be seen in Swahili and Comorian populations at dates corresponding to historically documented contacts.

Benefits of respiratory-gated 18F-FDG PET acquisition in lung disease.

Background: Fluorine-18-fluorodeoxyglucose (F-FDG) PET/computed tomography (CT) is a reliable imaging modality for the diagnosis of malignant lung nodules and to assess the latter's prognosis. However, physiological respiratory motion deteriorates PET images and thus decreases the technique's diagnostic and prognostic values. This issue can be overcome by applying respiratory gating to the F-FDG PET/CT acquisitions.

First description of a D-CE-D hybrid gene on a weak D Type 2 molecular background.

Background: RhD phenotypes that express a significantly reduced amount of RhD antigen per red blood cell may be mistyped as RhD-negative by standard serologic methods. The molecular identification of weak D Type 1, 2, or 3 carriers allows managing them as RhD-positive and, thus, rationalizes the use of RhD-negative stock units and the administration of Rh-immunoglobulin prophylaxis, avoiding unnecessary costs and possible side effects.

Study Design And Methods: One sample was investigated for confirming a D-C-E+c+e- phenotype.

Effect of tomographic operator inaccuracies and respiratory motion on PET/CT lung nodule images smearing.

Background: In thoracic PET/computed tomography (CT) imaging, uptake foci usually appear smeared because of postreconstruction smoothing and respiratory motion.

Objective: The aim of the present study was to assess the respective contributions of the reconstruction process and respiratory motion on PET/CT images.

Materials And Methods: Thirty-one pulmonary lesions were studied.

Sub-Saharan red cell antigen phenotypes and glucose-6-phosphate dehydrogenase deficiency variants in French Guiana.

Background: The treatment of Plasmodium vivax infections requires the use of primaquine, which can lead to severe haemolysis in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals. However, most of the Latin American countries, which are still endemic for vivax malaria, lack information on the distribution of G6PD deficiency (G6PDd). No survey has been performed so far in French Guiana.

New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.

Background: The KELL antigens are carried by the well-folded and highly polymorphic glycoprotein KELL, belonging to the M13 family of metalloproteases. Anti-KEL, particularly anti-KEL1, are clinically significant. We retrospectively investigated genomic DNA from samples with uncertain KEL1 or KEL2 phenotype and identified six novel Kmod alleles.

Quantization accuracy of short-duration respiratory-gated PET/CT acquisitions.

Purpose: PET/CT acquisitions are affected by physiological motion, which lowers the quantization accuracy. Respiratory-gated PET/CT methods require a long acquisition time, which may not be compatible with the clinical schedule. The objective of the present study was to assess the quantization accuracy of short-duration, respiratory-gated PET acquisitions and processing with the "CT-based" methodology developed in our laboratory.

Revisiting the Diego Blood Group System in Amerindians: Evidence for Gene-Culture Comigration.

Six decades ago the DI*A allele of the Diego blood group system was instrumental in proving Native American populations originated from Siberia. Since then, it has received scant attention. The present study was undertaken to reappraise distribution of the DI*A allele in 144 Native American populations based on current knowledge.

Sequencing of the ART4 gene in sub-Saharan cohorts reveals ethnic differences and two new DO alleles: DO*B-Ile5Thr and DO*B-Trp266Arg.

Background: Given the high heterogeneity of sub-Saharan populations especially between nonpygmoids and pygmoids, differences are expected during investigation of the DO/ART4 gene.

Study Design And Methods: Using genomic DNA extracted from blood samples collected from 77 Tswa pygmoids and 39 Teke and seven San nonpygmoids, DO coding regions were amplified and sequenced. A tetra-primer amplification refractory mutation system-polymerase chain reaction method was developed to specifically detect the DO*B-SH-Gln149Lys variant.

RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2).

Background: Knowledge of RH variants in African populations is critical to improving transfusion safety in countries with populations of African ancestry and to providing valuable information and direction for future development of transfusion in Africa. The purpose of this report is to describe RH diversity in individuals from Mali.

Study Design And Methods: Blood samples collected from 147 individuals self-identified as Dogon and Fulani were analyzed for Rh antigens and alleles.