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Search Results: 1 - 10 of 229559 matches for " Maria de Lourdes Lopes Ferrari;Chong "
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Williams Syndrome: development of a new scoring system for clinical diagnosis
Sugayama, Sofia Mizuho Miura;Leone, Cláudio;Chauffaille, Maria de Lourdes Lopes Ferrari;Okay, Thelma Suely;Kim, Chong Ae;
Clinics , 2007, DOI: 10.1590/S1807-59322007000200011
Abstract: objective: to develop a scoring system based on clinical findings to assist pediatricians in the diagnosis of william syndrome and to delineate when the fluorescent in-situ hybridization test to detect the microdeletion at 7q11.23 may be needed. methods: the fluorescent in-situ hybridization test was performed on 20 patients presenting william syndrome suggestive clinical features. eleven studies were selected from the literature in which there were 2 groups: patients with positive or negative fluorescent in-situ hybridization tests. forty-two clinical characteristics were compared to those reported in the literature to determine which ones were associated with the affected patients (ie, bearing deletions) using meta-analysis. the 2-tailed fisher exact test were used so that the frequency of findings observed in fluorescent in-situ hybridization positive and fluorescent in-situ hybridization negative patients could be compared in the present study together with the patients from the literature. we developed a scoring system based on clinical findings and their significant associations with patients with positive fluorescent in-situ hybridization tests. from themean and standard-deviation values of the data from our patients, we determined the cut-off score that that indicated the need for a fluorescent in-situ hybridization test to confirm diagnosis. results: seventeen patients were fluorescent in-situ hybridization positive, and 3 were fluorescent in-situ hybridization negative. the more discriminative findings among fluorescent in-situ hybridization positive patients were the following: typical facies, low birth weight, feeding difficulties, constipation, supravalvar aortic stenosis, mental retardation, and friendly personality. the distribution of the points among the 20 patients ranged from 19 to 28 points with a mean value of 23.3 out of a possible total of 31 points. the cut-off score that indicated the need for a fluorescent in-situ hybridization test was 20.
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization
Sugayama, Sofia Mizuho Miura;Moisés, Regina Lúcia;Wag?nfur, Jaqueline;Ikari, Nana Miura;Abe, Kikue Terada;Leone, Cláudio;Silva, Clóvis Artur Almeida da;Chauffaille, Maria de Lourdes Lopes Ferrari;Chong, Ae Kim;
Arquivos Brasileiros de Cardiologia , 2003, DOI: 10.1590/S0066-782X2003001300003
Abstract: objective: to evaluate the cardiovascular findings and clinical follow-up of patients with williams-beuren syndrome. methods: we studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and doppler echocardiography. fluorescence in situ hybridization (fish) was used to confirm the diagnosis of the syndrome. results: elastin gene locus microdeletion was detected in 17 patients (85%) (positive fish), and in 3 patients deletion was not detected (negative fish). sixteen patients with a positive fish (94%) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). we observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old), and 2 patients had normal pressure gradients (mean follow-up: 8.4 years). conclusion: a detailed cardiac evaluation must be performed in all patients with williams-beuren syndrome due to the high frequency of cardiovascular abnormalities.
Eosinofilia reacional, leucemia eosinofílica cr?nica e síndrome hipereosinofílica idiopática
Chauffaille, Maria de Lourdes Lopes Ferrari;
Revista Brasileira de Hematologia e Hemoterapia , 2010, DOI: 10.1590/S1516-84842010000500013
Abstract: mild eosinophilia with values of less than 1000 eosinophils/μl is commonly seen in the clinical practice and can be secondary to parasitic, inflammatory or allergic diseases or to drug reactions. additionally, eosinophilia may be due to connective tissue disorders, infections and occasionally to hematopoietic malignancies or solid tumors. the criteria established in the 1970s, for the definition of idiopathic hypereosinophilic syndrome is today unsatisfactory to characterize all conditions described as eosinophilia. now these conditions are better understood due to the evolution of cellular and molecular biology. this knowledge has helped to characterize distinct disorders involving myeloid and lymphoid lineages. hence, eosinophilia is categorized as reactive, clonal or idiopathic. with the introduction of anti-tyrosine kinase (imatinib mesylate) therapy, which is effective for the fip1l1/pdgfra rearrangement, there is a possibility to control or cure chronic eosinophilic leukemia. for this reason, precise and fast diagnosis is necessary for ideal therapeutic decisions before organic lesions that are irreversible, such as heart injury, become established. the aim of this manuscript is to review eosinophilia and offer an update on diagnostic and therapeutic investigations.
Septic arthritis as the first sign of Candida tropicalis fungaemia in an acute lymphoid leukemia patient
Vicari, Perla;Pinheiro, Ronald Feitosa;Chauffaille, Maria de Lourdes Lopes Ferrari;Yamamoto, Mihoko;Figueiredo, Maria Stella;
Brazilian Journal of Infectious Diseases , 2003, DOI: 10.1590/S1413-86702003000600012
Abstract: fungal infections caused by candida species have increased in incidence during the past two decades in england, north america and europe. candidal arthritis is rare in patients who are not intravenous drug users or are who not using a prostheses. we report the case of a 24-year-old man with acute lymphoid leukemia, who developed candida tropicalis arthritis during an aplastic period after chemotherapy. this is the eighth case described in the literature of c. tropicalis causing arthritis without intra-articular inoculation. we call attention to an unusual first sign of fungal infection: septic arthritis without intra-articular inoculation. however, this case differs from the other seven, since despite therapy a fast and lethal evolution was observed. we reviewed reported cases, incidence, risk factors, mortality and treatment of neutropenic patients with fungal infections.
Prevalence of FMS-like tyrosine kinase 3/internal tandem duplication (FLT3/ITD+) in de novo acute myeloid leukemia patients categorized according to cytogenetic risk
Krum, Everson Augusto;Yamamoto, Mihoko;Chauffaille, Maria de Lourdes Lopes Ferrari;
Sao Paulo Medical Journal , 2009, DOI: 10.1590/S1516-31802009000100006
Abstract: context and objective: the mechanism involved in leukemogenesis remains unclear and more information about the disruption of the cell proliferation, cell differentiation and apoptosis of neoplastic cells is required. design and setting: cross-sectional prevalence study at the discipline of hematology, hospital s?o paulo, universidade federal de s?o paulo. methods: we investigated fms-like tyrosine kinase 3/internal tandem duplication (flt3/itd+) in 40 adult patients with de novo acute myeloid leukemia (aml), categorized according to cytogenetic results, from september 2001 to may 2005. results: thirteen patients (32.5%) were classified as presenting the favorable karyotype, 11 patients (27.5%) as an intermediate group, 7 patients (17%) as an undefined group and 9 patients (22.5%) as the unfavorable group. flt3/itd+ was found in 10 patients (25%): 3 with flt3/itd+ and favorable karyotype; 4 with flt3/itd+ and intermediate karyotype; 2 with flt3/itd+ and undefined karyotype; and only 1 with flt3/itd+ and unfavorable karyotype. among the patients without flt3/itd+, 10 presented favorable karyotype, 8 intermediate, 4 undefined and 8 unfavorable karyotype. the cytogenetic results showed no correlations between flt3/itd presence and the prognostic groups (p = 0.13). we found that 2 patients were still alive more than 24 months later, flt3/itd+ did not influence the patients' survival rate. conclusion: we found the same frequency of aml with flt3/itd+ in both the favorable and intermediate prognosis groups. only one patient presented aml, flt3/itd+ and unfavorable karyotype (the hypothetical worst clinical situation). therefore, the prognostic advantage of favorable cytogenetics among patients with flt3/itd+ remains to be elucidated, for it to be better understood.
Fluorescent in-situ hybridization (FISH) for BCR/ABL in chronic myeloid leukemia after bone marrow transplantation
Chauffaille, Maria de Lourdes Lopes Ferrari;Oliveira, José Salvador Rodrigues;Romeo, Maura;Kerbauy, José;
Sao Paulo Medical Journal , 2001, DOI: 10.1590/S1516-31802001000100005
Abstract: context: identification of philadelphia chromosome or bcr/abl gene rearrangement in chronic myeloid leukemia is important at diagnosis as well as after treatment. objective: to compare the results of karyotyping using fluorescent in-situ hybridization (fish) upon diagnosis and 1 year after bone marrow transplantation in 12 patients. type of study: diagnostic test and residual disease detection. setting: hematology and hemotherapy department, federal university of s?o paulo/escola paulista de medicina, s?o paulo, brazil. sample: 12 patients with chronic myeloid leukemia at diagnosis and 1 year after bone marrow transplantation. diagnostic test: karyotyping was done in the usual way and the bcr/abl gene-specific probe was used for fish. main measurements: disease at diagnosis and residual. results: at diagnosis, 10 patients presented t(9;22)(q34.1;q11) as well as positive fish. two cases did not have metaphases but fish was positive. after bone marrow transplantation, 8 patients presented normal karyotype, 1 had persistence of identifiable philadelphia chromosome and 3 had no metaphases. two cases showed complete chimera and 2 had donor and host cells simultaneously. fish was possible in all cases after bone marrow transplantation and confirmed the persistence of identifiable philadelphia chromosome clone in one patient, and identified another that did not present metaphases for analysis. cases that showed mixed chimera in karyotype were negative for bcr/abl by fish. conclusion: the applicability of fish is clear, particularly for residual disease detection. classical and molecular cytogenetics are complementary methods.
Combined method for simultaneous morphology, immunophenotype and karyotype (MAC) in leukemias
Chauffaille, Maria de Lourdes Lopes Ferrari;Coutinho, Vicente;Yamamoto, Mihoko;Kerbauy, José;
Sao Paulo Medical Journal , 1997, DOI: 10.1590/S1516-31801997000100004
Abstract: in the present study, a combined method (cm) for attaining simultaneous identification of leukemic cell morphology, karyotype and immunophenotype has been evaluated in 21 patients with acute leukemia and 1 with cml in blast crisis were studied for morphology, citochemistry, immunophenotype and karyotype. karyotype was performed in a bone marrow sample by using conventional techniques. in each case, direct method (dm) and/or three cultures were tried. the cm consisted in separating a small part of the material resulting from any of the cultures or dm, preparing slides through cytospin and immunophenotyping through apaap method using the same monoclonal antibodies (moab) as for diagnosis. in 14 cases, the metaphases proved positive to the moab: in 4, the cells with abnormality had their origin defined; in other 4 the karyotype was normal preventing any identification; 6 cases had minimal abnormalities not visible through cm; and in two cases abnormal karyotypes were detected only in the cultures with gm-csf. this study showed that cm is feasible in cases where evident numerical or structural chromosomal abnormalties are present.
Cariótipo em leucemia mielóide aguda: importancia e tipo de altera o em 30 pacientes ao diagnóstico
Pelloso Luís Arthur Flores,Chauffaille Maria de Lourdes Lopes Ferrari,Ghaname Fabiana Sinnot,Yamamoto Mihoko
Revista da Associa??o Médica Brasileira , 2003,
Abstract: OBJETIVO: Análise sob o ponto de vista citogenético e clínico de pacientes com LMA. MéTODOS: Foram estudados 30 pacientes, sendo 16 homens e 14 mulheres. A idade variou de 19 a 84 anos. O diagnóstico baseou-se na classifica o OMS, imunofenotipagem e citogenética clássica por banda G. Foram tratados com o protocolo daunorrubicina e citarabina (3+7), com adi o de ATRA na Leucemia Promielocítica Aguda. RESULTADOS: A taxa de sucesso de cariótipo foi 84%. De acordo com o cariótipo, os pacientes foram divididos em quatro grupos: prognóstico favorável (PF) (6) (t(8;21), t(15;17)); intermediário (PI) (7) (quatro casos com cariótipo normal,+ 8, t(1;2) e del 18(q)); desfavorável (PD) (10) e três casos eram LMA secundária (dois evoluídos de síndrome mielodisplásica e uma apresenta o de LMC em crise blástica. No grupo de PF, a idade mediana foi 23 e no PD 60 anos(p<0,003). No grupo PF, 5/6 pacientes (83%) entraram em remiss o completa (RC), no PI 1/7 (20%) e no PD 1/8 (12,5%). Houve tendência à leucometria mais elevada no grupo de PD. CONCLUS ES: A porcentagem de cariótipo alterado em LMA (80%) está dentro dos valores relatados pela literatura (65%-95%). Ficou nítida a diferen a entre a taxa de RC do grupo PF versus PD, confirmando a importancia do cariótipo na diferencia o dos grupos de risco.
Septic arthritis as the first sign of Candida tropicalis fungaemia in an acute lymphoid leukemia patient
Vicari Perla,Pinheiro Ronald Feitosa,Chauffaille Maria de Lourdes Lopes Ferrari,Yamamoto Mihoko
Brazilian Journal of Infectious Diseases , 2003,
Abstract: Fungal infections caused by Candida species have increased in incidence during the past two decades in England, North America and Europe. Candidal arthritis is rare in patients who are not intravenous drug users or are who not using a prostheses. We report the case of a 24-year-old man with acute lymphoid leukemia, who developed Candida tropicalis arthritis during an aplastic period after chemotherapy. This is the eighth case described in the literature of C. tropicalis causing arthritis without intra-articular inoculation. We call attention to an unusual first sign of fungal infection: septic arthritis without intra-articular inoculation. However, this case differs from the other seven, since despite therapy a fast and lethal evolution was observed. We reviewed reported cases, incidence, risk factors, mortality and treatment of neutropenic patients with fungal infections.
Hyperfibrotic myelodysplasia: case report with response to steroid therapy
Romeo, Maura;Chauffaille, Maria de Lourdes Lopes Ferrari;Bahia, Daniella Marcia Maranh?o;Silva, Maria Regina Regis;
Jornal Brasileiro de Patologia e Medicina Laboratorial , 2002, DOI: 10.1590/S1676-24442002000200012
Abstract: context: bone marrow fibrosis is observed in different clonal hematological disorders including myeloproliferative diseases, acute leukemias and myelodysplastic syndromes. in myelodysplastic syndrome a new clinical-pathological entity with significant increase in reticulin fibers has been suggested, and the term hyperfibrotic myelodysplasia was used to define it. bone marrow biopsy shows increased reticulin fibers, megakaryocytic hyperplasia and dysplasia. differential diagnosis with primary myelofibrosis may be difficult and hybrid cases may occur. patients with hyperfibrotic myelodysplastic syndrome responding to treatment with steroids have been reported. in the majority of cases there was only hematological remission, although resolution of fibrosis occurred in one patient. design: case report. case report: a 62-year old male presented in june 95 with a 6-month history of lethargy and dispnea. on examination he was pale without hepato-splenomegaly. hemoglobin concentration was 3g/dl with marked anisocytosis without teardrop cells. bone marrow aspirates resulted in dry tap. bone marrow biopsy showed hypercellularity with increased fibrosis (grade iv) obliterating the normal marrow architecture. megakaryocytes were increased in number, with abnormal morphology. monoclonal antibodies against factor viii and cd31 revealed that both were expressed in megakaryocytes. prednisone (1mg/kg) was introduced in june 1996, after what his symptoms lessened and hemoglobin increased. bone marrow fibrosis decreased (grade iv to grade ii). he has become transfusion independent till jan/1999, when hemoglobin fell to 6g/dl and prednisone was reintroduced with a prompt rise in hemoglobin concentration.
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