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1.
Rev Med Liege ; 79(3): 137-142, 2024 Mar.
Artigo em Francês | MEDLINE | ID: mdl-38487906

RESUMO

VEXAS syndrome is a new entity, described as the first one of a new class of hemato-inflammatory diseases. Through this article and based on the first case highlighted at the CHU of Liege, we offer you a review of the literature as well as an overview of different laboratory techniques used for the diagnosis of this syndrome.


Le syndrome de VEXAS est une nouvelle entité, décrite comme pionnière d'une nouvelle classe de maladies hémato-inflammatoires. Au travers de cet article et sur base du premier cas mis en évidence au CHU de Liège, nous vous proposons une revue de la littérature ainsi qu'un aperçu des différentes techniques de laboratoire permettant le diagnostic de ce syndrome.


Assuntos
Biologia Molecular , Síndromes Mielodisplásicas , Dermatopatias Genéticas , Humanos , Citometria de Fluxo , Síndrome , Mutação
2.
Ann Biol Clin (Paris) ; 81(2): 189-197, 2023 03 21.
Artigo em Francês | MEDLINE | ID: mdl-36941226

RESUMO

Malaria is a potentially severe disease, particularly in Africa. In Europe, the majority of malaria cases come from travelers returning from endemic areas. The non-specific symptomatology may not alert the clinician if this notion of travel is not addressed. However, diagnosis and rapid initiation of treatment prevent the evolution of severe forms of the disease, especially in the case of Plasmodium falciparum infection, which can be life-threatening within 24 hours. Thin and thick blood smears microscopy is the main tools for diagnosis, but some automated hematology analyzers have demonstrated their ability to participate in early diagnosis. We describe two cases illustrating the contribution of the Sysmex XN-9100 automated system for the diagnosis of malaria. The first clinical case described a young man infected with numerous Plasmodium falciparum gametocytes. WNR (white blood cell count) and WDF (white blood cell differenciation) scattergrams showed an additional population, corresponding to gametocytes. The second case focused on a man with neuromalaria and high Plasmodium falciparum parasitaemia. Parasitized red blood cells form an inconspicuous double population on the reticulocyte scattergram, located at the discrimination limit between mature red blood cells and reticulocytes. Scattergram abnormalities, which can be visualized in a few minutes, offer an anticipation of the diagnosis of malaria in comparison to thin and thick smears microscopy, that requiring considerable time and expertise.


Assuntos
Hematologia , Malária Falciparum , Malária , Masculino , Humanos , Malária/diagnóstico , Malária Falciparum/diagnóstico , Plasmodium falciparum , Leucócitos
4.
BMC Infect Dis ; 17(1): 478, 2017 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-28687071

RESUMO

BACKGROUND: Leishmaniasis is a protozoan disease caused by parasites of the genus Leishmania, transmitted to humans by sandflies. The diagnosis of leishmaniasis is often challenging as it mimics many other infectious or malignant diseases. The disease can present in three ways: cutaneous, mucocutaneous, or visceral leishmaniasis, which rarely occur together or consecutively. CASE PRESENTATION: The patient was a 52 years old immunosuppressed Belgian woman with a long history of severe rheumatoid arthritis. She underwent bone marrow biopsy to explore thrombocytopenia. Diagnosis of visceral leishmaniasis was made by identification of Leishman Donovan (LD) bodies in macrophages. Treatment with liposomal amphotericin B was successful. She later developed cutaneous leishmaniasis treated with amphotericin B lipid complex. She next presented with relapsing cutaneous lesions followed by rapidly progressing lymphadenopathies. Biopsy confirmed the diagnosis of leishmaniasis. Treatments by miltefosine, amphotericin B, N-methyl-glucamine antimoniate were subsequently initiated. She later presented a recurrent bone marrow involvement treated with intramuscular paromomycin and miltefosine. She died two years later from leukemia. At the time of death, she presented with a mucosal destruction of the nose. A Leishmania-specific PCR (Polymerase Chain Reaction) identified L. infantum as etiological agent. CONCLUSIONS: Clinicians should be aware of the potential concomitant or sequential involvement of multiple anatomic localizations of Leishmania in immunosuppressed patients.


Assuntos
Leishmaniose Cutânea/diagnóstico , Leishmaniose Cutânea/tratamento farmacológico , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/tratamento farmacológico , Anfotericina B/uso terapêutico , Antiprotozoários/uso terapêutico , Biópsia , Feminino , Humanos , Hospedeiro Imunocomprometido , Leishmania/genética , Leishmania/patogenicidade , Macrófagos/parasitologia , Pessoa de Meia-Idade , Paromomicina/uso terapêutico , Fosforilcolina/análogos & derivados , Fosforilcolina/uso terapêutico , Reação em Cadeia da Polimerase , Recidiva
6.
Ann Biol Clin (Paris) ; 74(2): 168-75, 2016.
Artigo em Francês | MEDLINE | ID: mdl-27029722

RESUMO

Monoclonal B-cell lymphocytosis (MBL) is defined as an asymptomatic condition characterized by the presence of less than 5,000 monoclonal B-cells per microliter and the absence of clinical signs or symptoms of a B-cell lymphoproliferative disorder. Most MBL cases involve B cells presenting an identical phenotype to CLL (CLL-like MBL) with a Catovsky-Matutes score of 3 to 5 and share the same chromosomal abnormalities than CLL. Depending on the absolute B cell count, one may distinguish low-count CLL-like MBL (<500 B cells/µL) which have no evidence of progression, no reduction in overall survival, no increase in infection risk and do not require any specific follow-up. Patients with clinical CLL-like MBL (>500 B cells/µL) have a 1% to 2% per year risk of progression to CLL requiring therapy, a higher risk of infectious complications and mortality implicating an annual follow-up by hematologist. MBL may also express other less common phenotypes and are named atypical MBL in case of CD5 antigen expression (Catovsky-Matutes score: 1-2) and non-CLL-like MBL for CD5 negative cases (Catovsky-Matutes score: 0-2). Their poorer prognosis implicates imaging studies, bone marrow biopsy and cytogenetic analysis in addition to physical examination in order to rule out non-hodgkinien lymphoma, and require a more frequent follow-up. This review focuses on key concepts in the classification, diagnosis, monitoring and biology of MBL in laboratory practice.


Assuntos
Linfócitos B/patologia , Leucemia Linfocítica Crônica de Células B/diagnóstico , Linfocitose/diagnóstico , Linfocitose/terapia , Técnicas de Laboratório Clínico/métodos , Progressão da Doença , Humanos , Leucemia Linfocítica Crônica de Células B/epidemiologia , Leucemia Linfocítica Crônica de Células B/patologia , Leucemia Linfocítica Crônica de Células B/terapia , Contagem de Linfócitos , Linfocitose/epidemiologia , Padrões de Prática Médica
11.
Cancer Genet Cytogenet ; 147(1): 78-80, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14580776

RESUMO

Imatinib mesylate (tested as STI571), an abl kinase inhibitor, induces sustained, complete hematologic and cytogenetic responses in chronic myelocytic leukemia (CML) patients; however, emergence of clonal chromosomal aberrations in Philadelphia-negative (Ph-) cells during treatment has been reported. We describe two CML patients in chronic phase who presented with complete cytogenetic responses during imatinib mesylate therapy but developed new clonal chromosomal rearrangements in Ph- cells. The first patient presented with a duplication of chromosome 1, dup(1)(q21q42), and the second showed two new clonal aberrations consisting of inv(1)(q12q32) and del(7)(q22) in the same clone.


Assuntos
Antineoplásicos/uso terapêutico , Aberrações Cromossômicas , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mieloide Crônica Atípica BCR-ABL Negativa/tratamento farmacológico , Leucemia Mieloide Crônica Atípica BCR-ABL Negativa/genética , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico , Benzamidas , Deleção Cromossômica , Mapeamento Cromossômico , Humanos , Mesilato de Imatinib , Masculino , Pessoa de Meia-Idade
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