Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases
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International audience
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
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Background and objectives: DNA polymerase subunit gamma (POLG) deficiency is likely the most frequent cause of nuclear-encoded mitochondrial disorders. POLG-related disorders reportedly constitute a spectrum of overlapping phenotypes from infancy to late adulthood. We retrospectively reviewed natural histories for 40 children carrying biallelic pat...
Impact of second autologous stem‐cell transplantation at relapsed multiple myeloma: A French multicentric real‐life stud...
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A second autologous stem‐cell transplantation (ASCT2) is considered for relapsed multiple myeloma (RMM) patients showing prolonged response after a first ASCT. However, given breakthrough treatments like anti‐CD38 and immunotherapy, its role remains debated. We conducted a real‐life study in 10 French centers (1996–2017) involving 267 RMM patients ...
von Willebrand disease
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International audience
Human myeloid differentiation by BMP4 signaling through the VDR pathway in acute myeloid leukemia
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International audience
Type 2N von Willebrand disease: Genotype drives different bleeding phenotypes and treatment needs
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International audience
A proteomic study of the downregulation of TRIM37 on chondrocytes: Implications for the MULIBREY syndrome
MULIBREY nanism which results from autosomal recessive mutations in TRIM37 impacts skeletal development, leading to growth delay with complications in multiple organs. In this study, we employed a combined proteomics and qPCR screening approach to investigate the molecular alterations in the CHON-002 cell line by comparing CHON-002 wild-type (WT) c...
Bortezomib, thalidomide, and dexamethasone with or without daratumumab and followed by daratumumab maintenance or observ...
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BackgroundCASSIOPEIA part 1 demonstrated superior depth of response and prolonged progression-free survival with daratumumab in combination with bortezomib, thalidomide, and dexamethasone (D-VTd) versus bortezomib, thalidomide, and dexamethasone (VTd) alone as an induction and consolidation regimen in transplant-eligible patients newly diagnosed wi...
Taux de rémissions prolongées à l’arrêt d’un traitement par agoniste du récepteur de la thrombopoïétine au cours de la t...
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IntroductionLes agonistes du récepteur de la thrombopoïétine (ARTPO) sont des traitements efficaces dans la thrombopénie immunologique (PTI), mais du fait de leur mécanisme d’action, ceux-ci ont été initialement considérés comme uniquement suspensifs. Ce dogme a été remis en question par plusieurs études récentes mais la plupart ont inclus des PTI ...
La polysérite myélomateuse, une atteinte extra osseuse rare du myélome multiple
IntroductionLes atteintes extra médullaires du myélome représentent 5 à 20 % des myélomes multiples. Les épanchements des séreuses myélomateux concernent environ 1 % des myélomes. Nous rapportons le cas d’une atteinte sérique de myélome.ObservationIl s’agit d’une patiente de 61 ans, sans comorbidités, suivie pour une gammapathie monoclonale IgA kap...
