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Carneiro Borba C de Lourdes Chauffaille M Saeed Sanabani S Saeed Sanabnai S Folloni Fernandes J Aiko Kumeda C Rodrigues Pereira Velloso ED Jarandilha dos Santos K Puato Vieira Pupim M Hamerschlak N Odone Filho V Bendit I 《Acta haematologica》2012,127(3):165-169
This paper chronicles a 2-year-old girl who presented with acute leukemia/lymphoma syndrome of the T cell immunophenotype. At this time, the cytogenetic analysis of her bone marrow cells showed a reciprocal translocation between the short arm of chromosome 12 and the long arm of chromosome 13, t(12;13)(p13;q14). The immunophenotyping of bone marrow blast cells by flow cytometry revealed a population of cells positive for CD56, CD117, CD45, partial CD33, partial HLA-DR, CD13, CD7, CD2 and CD5. Therefore, a diagnosis of acute leukemia with a mixed T cell/myeloid phenotype was made. The patient had a poor response to classic T cell acute lymphocytic leukemia/lymphoma therapy; thus, her treatment was changed to a myeloid leukemia protocol, which produced a good response. She underwent a successful cord blood transplantation from an unrelated HLA partially matched donor. The coexistence of these two phenotypes prompts questions about the existence of clonal instability, which might influence the choice of therapy. The rarity of the t(12;13)(p13;q14) and the coexistence of T cell/myeloid markers suggest a nonrandom association. To the best of our knowledge, this is the first reported case in which a cell clone bearing a t(12;13)(p13;q14) translocation in a mixed T cell/myeloid lesion was detected. 相似文献
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Lionnet F Hammoudi N Stojanovic KS Avellino V Grateau G Girot R Haymann JP 《Haematologica》2012,97(8):1136-1141
Background
Hemoglobin sickle cell disease is one of the most frequent hemoglobinopathies. Surprisingly, few studies have been dedicated to this disease, currently considered to be a mild variant of homozygous sickle cell disease. The aim of this study was to update our knowledge about hemoglobin sickle cell disease.Design and Methods
The study involved a single center series of 179 patients. Clinical and biological data were collected with special attention to the assessment of pulmonary arterial hypertension and nephropathy.Results
Hemoglobin sickle cell diagnosis was delayed and performed in adulthood in 29% of cases. Prevalence of hospitalized painful vasoocclusive crisis, acute chest syndrome and priapism was 36%, 20% and 20%, respectively. The most common chronic organ complications were retinopathy and sensorineural otological disorders in 70% and 29% of cases. Indeed, prevalence of complications reported in homozygous sickle cell disease, such as nephropathy, suspicion of pulmonary hypertension, strokes and leg ulcers was rather low (13%, 4% and 1%, respectively). Phlebotomy performed in 36% of this population (baseline hemoglobin 11.5 g/dL) prevented recurrence of acute events in 71% of cases.Conclusions
Our data suggest that hemoglobin sickle cell disease should not be considered as a mild form of sickle cell anemia but as a separate disease with a special emphasis on viscosity-associated otological and ophthalmological disorders, and with a low prevalence of vasculopathy (strokes, pulmonary hypertension, ulcers and nephropathy). Phlebotomy was useful in reducing acute events and a wider use of this procedure should be further investigated. 相似文献56.
Side of onset does not influence cognition in newly diagnosed untreated Parkinson's disease patients
Roberto Erro Gabriella Santangelo Marina Picillo Carmine Vitale Marianna Amboni Katia Longo Flavio Giordano Marcello Moccia Paolo Barone Maria Teresa Pellecchia 《Parkinsonism & related disorders》2013,19(2):256-259
BackgroundA relation between the side of motor onset and cognitive impairment in early PD has been reported, suggesting that the asymmetric degeneration affecting subcortical regions may play a pivotal role in lateralized cognitive function. However, evidences are controversial and all previous studies were performed on treated patients, though it is known that dopaminergic therapy can affect cognition in PD.MethodsSixty-nine early untreated PD patients underwent an extensive neuropsychological battery exploring memory, visuospatial and attention/executive functions. Patients were divided with respect of the side of onset (right vs. left) and further grouped according to motor phenotype (tremor vs. rigidity-bradykinesia). Multivariate analysis of variance has been carried out to compare clinical and neuropsychological data between subgroups.ResultsThere were no differences in any neuropsychological task between right-sided and left-sided onset subgroups, irrespective of tremor dominant or rigid-bradykinetic phenotype. Age at onset was significantly higher in patients with any cognitive impairment as compared with patients without (66.7 ± 3.2 vs. 56.3 ± 6.8 years, p = 0.001).ConclusionSide of motor onset is not a major determinant for developing lateralized cognitive deficits in newly diagnosed untreated PD patients. 相似文献
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Oren Rom Katia Avezov Dror Aizenbud Abraham Z. Reznick 《Respiratory physiology & neurobiology》2013,187(1):5-10
Despite the significant health risks resulting from tobacco use, the prevalence of smokers worldwide remains high. Cigarette smoking is one of the major sources of toxic chemical exposure to humans and is the greatest cause of preventable illnesses and premature death. The adverse consequences of smoking in various pathologies are mediated by its effects on the immune-inflammatory system. In this review, we aim to explore the effects of cigarette smoking on the inflammatory response and molecular mechanisms with emphasis on the nuclear factor kappa B (NF-kB) pathway. The effects of smoking on various inflammatory pathologies will be discussed, focusing on oral diseases, airway inflammation, chronic obstructive pulmonary disease (COPD) and inflammatory bowel diseases (IBD). 相似文献
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