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1.
Hemoglobin ; 40(5): 349-352, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27624280

RESUMO

We report two families, members of which are carriers of a novel hemoglobin (Hb) variant that was named Hb Olivet [α13(A11)Ala→Thr (α1) (GCC > ACC); HBA1: c.40G > A; p.Ala14Thr]. The analysis of these cases allowed a clear description of this anomaly that behaves as a silent Hb. In the first family, of Portuguese ethnicity living in France, the proband, a 24-year-old male and his 57-year-old mother, both appeared to be carriers. The son presented with borderline mean corpuscular volume (MCV), while the mother was normocytic and normochromic. Hemoglobin separation on capillary electrophoresis (CE) was normal, while a slightly asymmetric peak was observed on high performance liquid chromatography (HPLC). In a second family, originally from Surinam but living in The Netherlands, the proband, a 6-year-old girl, showed a mild microcytosis at low ferritin levels. The abnormal Hb was inherited from the mother who was clearly iron depleted, was not present in the sister and brother of the proband. The microcytic hypochromic anemia was only shown in two out of a total of four carriers. It therefore seems likely that iron depletion is causative as two carriers are completely normal. Characterization and genotype/phenotype correlation are briefly described.


Assuntos
Estudos de Associação Genética , Hemoglobinopatias/patologia , Hemoglobinas Anormais/genética , Mutação/genética , Criança , Família , Feminino , França/epidemiologia , Hemoglobinopatias/sangue , Hemoglobinopatias/genética , Heterozigoto , Humanos , Deficiências de Ferro , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Portugal/etnologia , Suriname/etnologia , Adulto Jovem
2.
J Antimicrob Chemother ; 68(5): 1169-78, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23335199

RESUMO

OBJECTIVES: To characterize viro-immunological outcomes following long-term combined antiretroviral therapy (cART) initiated during primary HIV infection (PHI) or chronic HIV infection (CHI) and to identify factors predictive of optimal viro-immunological responder (OVIR) status. METHODS: This was a prospective, single-centre cohort study of HIV-1-infected patients on effective cART. Total cell-associated HIV DNA levels and T cell counts before and during treatment were used to identify factors predictive of OVIR status {i.e. low HIV DNA level [<2.3 log10 copies/10(6) peripheral blood mononuclear cells (PBMCs)], together with normalization of the absolute/relative CD4+ T cell counts and CD4+/CD8+ ratio}. RESULTS: A total of 307 patients were enrolled, of whom 35 started cART during PHI (<4 months post-infection) and 272 during CHI. HIV DNA decay was modelled with a non-linear mixed-effects model that showed two phases of HIV DNA decay, both of which were significantly more pronounced in the PHI group. At the end of follow-up, after a median of 4 years of viral suppression (<50 copies/mL), HIV DNA levels were lower in the PHI group than in the CHI group (median = 2.15 versus 2.84 log10 copies/10(6) PBMCs; P< 0.0001). Immune reconstitution was more rapid and sustained in the PHI group (median = 883 versus 619 CD4+ cells/mm(3); 41% versus 31% CD4+; CD4+/CD8+ 1.31 versus 0.77; all P< 0.0001). Finally, OVIR status was obtained in 19/35 (54%) and 7/272 (3%) patients in the PHI and CHI groups (P< 0.0001), respectively. In a logistic regression analysis, cART initiation during PHI (OR = 16, 95% CI = 3.5-72.3) and HIV DNA level <3.3 log10 before treatment (OR = 4.8, 95% CI = 1.2-19.3) were independently predictive of OVIR status. CONCLUSIONS: Initiating cART during PHI represents a major opportunity to reduce HIV reservoirs and achieve optimal immune reconstitution.


Assuntos
Antirretrovirais/administração & dosagem , Terapia Antirretroviral de Alta Atividade/métodos , Infecções por HIV/tratamento farmacológico , HIV-1/isolamento & purificação , Linfócitos T/imunologia , Carga Viral , Adulto , Contagem de Linfócito CD4 , Relação CD4-CD8 , Estudos de Coortes , DNA Viral/sangue , Feminino , Humanos , Masculino , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento
3.
Leukemia ; 35(6): 1597-1609, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32934355

RESUMO

Measurable residual disease (MRD) status is widely adopted in clinical trials in patients with chronic lymphocytic leukemia (CLL). Findings from FILO group trials (CLL2007FMP, CLL2007SA, CLL2010FMP) enabled investigation of the prognostic value of high-sensitivity (0.7 × 10-5) MRD assessment using flow cytometry, in blood (N = 401) and bone marrow (N = 339), after fludarabine, cyclophosphamide, and rituximab (FCR)-based chemoimmunotherapy in a homogeneous population with long follow-up (median 49.5 months). Addition of low-level positive MRD < 0.01% to MRD ≥ 0.01% increased the proportion of cases with positive MRD in blood by 39% and in bone marrow by 27%. Compared to low-level positive MRD < 0.01%, undetectable MRD was associated with significantly longer progression-free survival (PFS) when using blood (72.2 versus 42.7 months; hazard ratio 0.40, p = 0.0003), but not when using bone marrow. Upon further stratification, positive blood MRD at any level, compared to undetectable blood MRD, was associated with shorter PFS irrespective of clinical complete or partial remission, and a lower 5-year PFS rate irrespective of IGHV-mutated or -unmutated status (all p < 0.05). In conclusion, high-sensitivity (0.0007%) MRD assessment in blood yielded additional prognostic information beyond the current standard sensitivity (0.01%). Our approach provides a model for future determination of the optimal MRD investigative strategy for any regimen.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Medula Óssea/patologia , Imunoterapia/mortalidade , Leucemia Linfocítica Crônica de Células B/patologia , Neoplasia Residual/patologia , Idoso , Ensaios Clínicos Fase II como Assunto , Ensaios Clínicos Fase III como Assunto , Ciclofosfamida/administração & dosagem , Feminino , Seguimentos , Humanos , Leucemia Linfocítica Crônica de Células B/imunologia , Leucemia Linfocítica Crônica de Células B/terapia , Masculino , Prognóstico , Estudos Retrospectivos , Rituximab/administração & dosagem , Taxa de Sobrevida , Vidarabina/administração & dosagem , Vidarabina/análogos & derivados
4.
F1000Res ; 9: 1482, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-35528205

RESUMO

Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and has been a global public health concern. Co-infection of SARS-CoV-2 and other respiratory syndrome has been rarely reported. We report coinfection of SARS-CoV-2 and 2009 H1N1 Influenza strain in a French patient with pneumonia leading to acute respiratory distress syndrome.  The patient also had a medical history of pulmonary sarcoidosis with a restrictive ventilatory syndrome, which would be a supplementary risk to develop a poor outcomes. This case highlights the possible coinfection of two severe SARS-CoV-2 and influenza H1N1 viruses, which presents a higher risk to extend the care duration. The overlapping clinical features of the two respiratory syndromes is a challenge, and awareness is required to recommend an early differential diagnosis.


Assuntos
COVID-19 , Coinfecção , Vírus da Influenza A Subtipo H1N1 , Influenza Humana , Síndrome do Desconforto Respiratório , Sarcoidose Pulmonar , COVID-19/complicações , Humanos , Influenza Humana/complicações , Influenza Humana/diagnóstico , Síndrome do Desconforto Respiratório/complicações , SARS-CoV-2
5.
Ann Biol Clin (Paris) ; 77(2): 191-195, 2019 04 01.
Artigo em Francês | MEDLINE | ID: mdl-30907360

RESUMO

We report the case of an 83-year-old woman admitted to the accident and emergency unit for pneumopathy. The blood cell count on the DXH automaton (Coulter® ™ UniCel® DxH) found a normochromic and normocytic anemia, anormal platelet count and subnormal leukocyte formula. The only alarm raised by the automaton was the presence of a basocytosis. A control of the leucocyte count by flow cytometry and blood smear has been done. It revealed there was no basocytosis, but showed the presence of an atypical monomorphic lymphocytes B population (T/B < 1 ratio in flow cytometry), around which platelets aggregated. The lymphocytic immunophenotyping allowed us to highlight the presence of a CD5+ B clonal subpopulation.


Assuntos
Plaquetas/patologia , Linfócitos/patologia , Linfoma de Células B/diagnóstico , Linfoma não Hodgkin/diagnóstico , Idoso de 80 Anos ou mais , Contagem de Células Sanguíneas , Diagnóstico Diferencial , Feminino , Humanos , Imunofenotipagem , Linfoma de Células B/sangue , Linfoma de Células B/patologia , Linfoma não Hodgkin/sangue , Linfoma não Hodgkin/patologia
7.
AIDS ; 32(12): 1579-1587, 2018 07 31.
Artigo em Inglês | MEDLINE | ID: mdl-29734217

RESUMO

OBJECTIVE: We measure the transcript levels of the proapoptotic GALIG, antiapoptotic MCL1 genes and those of the autophagy genes BECN1, MAP1LC3B, ATG9a, P62/SQSTM1, GABARAP, GABARAPL1 and GABARAPL2 to define if mRNA alteration can characterize HIV-infected patients effectively treated with combined antiretroviral therapy (cART). DESIGN: Monocentric pilot study conducted on peripheral blood mononuclear cell (PBMC) of 40 uninfected donors and 27 HIV-positive patients effectively treated by cART for at least 8.4 years. METHODS: Transcripts of the various genes were quantified by reverse transcription (RT)-quantitative PCR (qPCR) and RT-droplet digital PCR and compared using the standard statistical Mann-Whitney U test and machine learning algorithms. RESULTS: A concomitant overexpression of GALIG and MCL1 is detected in PBMC of effectively cART-treated patients. Overexpression of MAP1LC3B and GABARAPL1 is also measured, whereas BECN1 is underexpressed. Finally, accurate classification (94.5%) of our PBMC samples as HIV-negative donors or HIV-positive cART-treated is obtained in three separate machine-learning algorithms with GABARAPL1 and ATG9a as input variables. CONCLUSION: cART-treated HIV patients display altered transcript levels for three genes of basal autophagy. Some of these alterations may appear contradictory: BECN1 and ATG9a, both key actors in the formation of mammalian autophagosome, exhibit decreased amount of transcripts, whereas mRNA from the ATG8 family increase. Given the known role of impaired basal autophagy in immune senescence and chronic inflammation, the functional significance of our findings should be explored in larger studies.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Apoptose , Autofagia , Expressão Gênica , Infecções por HIV/tratamento farmacológico , Infecções por HIV/patologia , Leucócitos Mononucleares/patologia , Terapia Antirretroviral de Alta Atividade , Feminino , Perfilação da Expressão Gênica , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa
8.
Chest ; 154(3): 617-627, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29705219

RESUMO

BACKGROUND: In this study, we primarily sought to assess the ability of flow cytometry to predict early clinical deterioration and overall survival in patients with sepsis admitted in the ED and ICU. METHODS: Patients admitted for community-acquired acute sepsis from 11 hospital centers were eligible. Early (day 7) and late (day 28) deaths were notified. Levels of CD64pos granulocytes, CD16pos monocytes, CD16dim immature granulocytes (IGs), and T and B lymphocytes were assessed by flow cytometry using an identical, cross-validated, robust, and simple consensus standardized protocol in each center. RESULTS: Among 1,062 patients screened, 781 patients with confirmed sepsis were studied (age, 67 ± 48 years; Simplified Acute Physiology Score II, 36 ± 17; Sequential Organ Failure Assessment, 5 ± 4). Patients were divided into three groups (sepsis, severe sepsis, and septic shock) on day 0 and on day 2. On day 0, patients with sepsis exhibited increased levels of CD64pos granulocytes, CD16pos monocytes, and IGs with T-cell lymphopenia. Clinical severity was associated with higher percentages of IGs and deeper T-cell lymphopenia. IG percentages tended to be higher in patients whose clinical status worsened on day 2 (35.1 ± 35.6 vs 43.5 ± 35.2, P = .07). Increased IG percentages were also related to occurrence of new organ failures on day 2. Increased IG percentages, especially when associated with T-cell lymphopenia, were independently associated with early (P < .01) and late (P < .01) death. CONCLUSIONS: Increased circulating IGs at the acute phase of sepsis are linked to clinical worsening, especially when associated with T-cell lymphopenia. Early flow cytometry could help clinicians to target patients at high risk of clinical deterioration. TRIAL REGISTRY: ClinicalTrials.gov; No.: NCT01995448; URL: www.clinicaltrials.gov.


Assuntos
Deterioração Clínica , Citometria de Fluxo/normas , Sepse/sangue , Idoso , Feminino , Humanos , Masculino , Escores de Disfunção Orgânica , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Análise de Sobrevida
9.
PLoS One ; 7(11): e49289, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23152890

RESUMO

BACKGROUND: Among HIV-1 infected patients who achieved virologic suppression, the use of atazanavir without pharmacologic boosting is debated. We evaluated the efficacy and tolerance of maintenance therapy with unboosted atazanavir in clinical practice. METHODS AND RESULTS: This multicenter retrospective cohort study evaluated the efficacy of switching HIV-1-infected patients controlled on triple therapy to unboosted (ATV(0), n = 98) versus ritonavir-boosted atazanavir (ATV/r, n = 254) +2 nucleos(t)ide reverse transcriptase inhibitors. The primary endpoint was time to virologic failure (VF, >200 copies/mL). ATV groups were compared controlling for potential confounding bias by inverse probability weighted Cox analysis and propensity-score matching. Overall and adjusted VF rates were similar for both strategies. Both strategies improved dyslipidemia and creatininemia, with less jaundice in the ATV(0) group. CONCLUSION: In previously well-suppressed patients, within an observational cohort setting, ATV(0)-based triple-therapy appeared as effective as ATV/r- based triple-therapy to maintain virologic suppression, even if co-administered with TDF, but was better tolerated.


Assuntos
Fármacos Anti-HIV/farmacologia , HIV-1/efeitos dos fármacos , Oligopeptídeos/farmacologia , Piridinas/farmacologia , Fármacos Anti-HIV/uso terapêutico , Sulfato de Atazanavir , Determinação de Ponto Final , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , Humanos , Estimativa de Kaplan-Meier , Oligopeptídeos/uso terapêutico , Piridinas/uso terapêutico , Fatores de Tempo , Resultado do Tratamento
10.
J Am Acad Dermatol ; 49(2 Suppl Case Reports): S161-3, 2003 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12894110

RESUMO

We describe a female patient with an acute purpuric and bullous eruption mainly affecting the lower aspect of the legs. Skin biopsy specimens demonstrated microvascular occlusions with fibrin thrombi but no dermal inflammation. Intermediate hyperhomocysteinemia and transient antiphospholipid antibodies were evidenced as factors of thrombophilia. The responsibility of the latter in the onset of the cutaneous lesions is discussed.


Assuntos
Anticorpos Antifosfolipídeos/imunologia , Síndrome Antifosfolipídica/diagnóstico , Dermatopatias Vesiculobolhosas/imunologia , Trombofilia/diagnóstico , Doença Aguda , Idoso , Síndrome Antifosfolipídica/complicações , Síndrome Antifosfolipídica/tratamento farmacológico , Biópsia por Agulha , Feminino , Humanos , Imuno-Histoquímica , Prednisona/administração & dosagem , Prognóstico , Púrpura/imunologia , Púrpura/patologia , Medição de Risco , Índice de Gravidade de Doença , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Dermatopatias Vesiculobolhosas/patologia , Trombofilia/complicações , Trombofilia/tratamento farmacológico , Resultado do Tratamento
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