Maria Letícia Ribeiro

Interim FDG-PET/CT Is an Independent Predictor of Overall Survival and Progression Free Survival in a Real-Life Cohort

Adriana Isabel Roque, Dulcelena Neves, Maria Carolina Afonso, Raquel Guilherme et autres

Introduction: The prognostic value of interim FDG-PET/CT (iPET) in classic Hodgkin lymphoma (cHL) was demonstrated in several clinical trials. Although in last decade the PET/CT has been cHL gold standard for the staging at diagnosis and final response evaluation, the introduction of …

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PB2139 IMPACT OF OVERWEIGHT IN TREATMENT WITH DARATUMUMAB IN MULTIPLE MYELOMA PATIENTS

André Gonçalo Gomes Roque, M.C. Afonso, Luís Rito, Marta Isabel Pereira et autres

Background: Daratumumab (Dara) is a monoclonal antibody (mAb) directed against CD38, that is extensively expressed on plasma cells, but also in adipocytes, being an important determinant for adipose tissue differentiation. Some studies revealed lower serum levels of mAb in overweight (OW) pts, …

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PB2348 IMMUNE RECONSTITUION OF ΓΔT CELLS AFTER AUTOLOGOUS STEM CELL TRANSPLANTATION IN MULTIPLE MYELOMA – IMPACT OF REFRACTORINESS/RELAPSE AND PREVIOUS THERAPEUTICS ON RECOVERY

Adriana Isabel Roque, INGRID GEOVANNA DE MOURA E SILVA, Margarida Afonso, Emília Cortesão et autres

Background: γδT cells are a minor circulant effector/cytotoxic population involved in immune surveillance, with evidence supporting their anti‐multiple myeloma (MM) role. Although lymphocyte recover after autologous hematopoietic stem cell transplantation (aHSCT) has been extensively studied, there are limited data about γδT cells, …

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Letter to the editor regarding ‘Non-cirrhotic portal hypertension associated with multicentric Castleman's disease: a case report’

Dale M. Kobrin, Ana Luísa Pinto, Sophia A. T. Parente, Marília Gomes et autres

Idiopathic multicentric Castleman disease (iMCD) is a rare inflammatory condition characterized by multiple regions of enlarged lymph nodes that demonstrate characteristic histopathology and cytoki...

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Isolated Richter’s syndrome of the brain: diagnosis in the eye of the beholder

Ana Luísa Pinto, Gisela Ferreira, José Pedro Carda, Marília Gomes et autres

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Primary familial congenital erythrocytosis: two novel EPOR mutations found in S pain

Celeste Bento, Helena Almeida, Carlos Fernández-Lago, Maria Letícia Ribeiro

We present the study of two different families from Spain with primary familial congenital polycythemia (PFCP).Secondary causes of erythrocytosis were already excluded as well as JAK2V617F and JAK2exon12 mutations.Sequencing analysis of the EPOR gene detected two novel heterozygous mutations.One with autosomal dominant …

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Transient Neonatal Cyanosis Associated With a New Hb F Variant

Celeste Bento, Tabita Magalhães Maia, Inês Carvalhais, Filipa Moita et autres

Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. We report the clinical case of a neonate with …

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Resenhas

Tiago Medeiros Triarca, Maria Letícia Ribeiro, Luciano da Rosa Ramires, D S S RODRIGUES

This section contains one review.

RhD variant caused by an in‐frame triplet duplication in the RHD gene

Janet Pereira, Maria Júlia Andrade Rodrigues, Louise A. Tilley, Joyce Poole et autres

BACKGROUND: The RHD gene is highly polymorphic and a large number of D variants have already been detected. Several mechanisms are involved in the origin of D variants. In-frame deletions, resulting in a single-amino-acid deletion, have been described associated with RhD and …

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Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Anke K. Bergmann, Inderneel Sahai, Jill Falcone, Judy Fleming et autres

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Novel human pathological mutations. Gene symbol: AR. Disease: androgen insensitivity syndrome.

Maria Letícia Ribeiro

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Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.

Luís Relvas, Maria Teresa Claro, Maria Celeste Bento, Maria Letícia Ribeiro

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