Identification of a new translocation that disrupts the RUNX1 gene in a patient with de novo acute myeloid leukemia

Translocation (8;21)(q22;q22)/RUNX1-RUNX1T1 is a molecular marker that is usually associated with a favorable outcome in both pediatric and adult patients with acute myeloid leukemia (AML). The present report describes the results of hematologic, cytogenetic, and fluorescence in situ hybridization analysis of a case of AML with maturation in a 23-year-old woman. Cytogenetic analysis revealed a balanced translocation involving chromosomal band 21q22, which disrupts the RUNX1 gene, and 10q22, with the following karyotype: 45,X,-X,t(10;21)(q24;q22)[cp16]/46,XX [4]. Interphase FISH showed, in 67% of the 300 interphase nuclei analyzed, three signals for RUNX1 and two RUNX1T1, but no signals corresponding to RUNX1-RUNX1T1 fusion gene. These results were corroborated by RT-PCR, which revealed negative results for the amplification of RUNX1-RUNX1T1 fusion gene. The patient was refractory to conventional and salvage chemotherapy regimens and early relapsed after unrelated donor bone marrow transplantation (BMT), dying of pneumonia, acute respiratory failure, and sepsis on day +80 after BMT, 1 year after diagnosis.

Towards higher precision and operational use of optical homodyne tomograms

We present the results of an operational use of experimentally measured optical tomograms to determine state characteristics (purity) avoiding any reconstruction of quasiprobabilities. We also develop a natural way how to estimate the errors (including both statistical and systematic ones) by an analysis of the experimental data themselves. Precision of the experiment can be increased by postselecting the data with minimal (systematic) errors. We demonstrate those techniques by considering coherent and photon-added coherent states measured via the time-domain improved homodyne detection. The operational use and precision of the data allowed us to check purity-dependent uncertainty relations and uncertainty relations for Shannon and Renyi entropies.

Atrial Fibrillation and Dementia: Results from the Sao Paulo Ageing & Health Study

Background: Atrial fibrillation (AF) is a controversial risk factor for dementia. Objective: The objective of this study was to assess the association between AF and dementia in the "Sao Paulo Ageing & Health" (SPAH) study participants. Methods: SPAH is a cross-sectional, population-based study of elderly people living in a deprived neighborhood in Sao Paulo, Brazil. Dementia diagnosis was performed according to the 10/66 study group protocol based on Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria. Diagnosis of AF was made using a 12-lead electrocardiogram (ECG) recording, which was assessed by two cardiologists. Data on demographics and cardiovascular risk factors were also obtained. Results: Dementia was diagnosed in 66 (4.3%) and AF in 36 (2.4%) of 1,524 participants with a valid ECG. The crude odds ratio (OR) for dementia in participants with AF was 2.8 (95% confidence interval [CI]: 1.0-8.1; p=0.06) compared with individuals without AF. When analyzing data according to sex, a positive relationship was found in women (OR 4.2; 95% CI: 1.24-15.1; p=0.03). After age-adjustment, however, this association was no longer significant (OR 2.2; 95% CI: 0.6-8.9; p=0.26). Conclusion: There was no independent association between AF and dementia in this sample. The prevalence of AF may be low in this population owing to premature cardiovascular death. (Arq Bras Cardiol 2012;99(6):1108-1114)

A new evolutionary clustering search for a no-wait flow shop problem with set-up times

This paper addresses the m-machine no-wait flow shop problem where the set-up time of a job is separated from its processing time. The performance measure considered is the total flowtime. A new hybrid metaheuristic Genetic Algorithm-Cluster Search is proposed to solve the scheduling problem. The performance of the proposed method is evaluated and the results are compared with the best method reported in the literature. Experimental tests show superiority of the new method for the test problems set, regarding the solution quality. (c) 2012 Elsevier Ltd. All rights reserved.

Molecular epidemiology of extended-spectrum-beta-lactamase-producing Klebsiella pneumoniae over a 10 year period in Calgary, Canada

A study was designed to investigate the molecular epidemiology of extended-spectrum -lactamase (ESBL)-producing Klebsiella pneumoniae isolated in a centralized region over a 10 year period (200009). Molecular characterization was done using isoelectric focusing, PCR and sequencing for bla(CTX-M), bla(TEM) and bla(SHV) genes and plasmid-mediated quinolone resistance determinants. Genetic relatedness was determined with PFGE using XbaI and multilocus sequencing typing. A total of 89 patients with incident infections were identified; the majority presented with hospital-onset urinary tract infections. The absolute number of ESBL-producing isolates remained very low until 2003, increased slightly in 2004, remained stable until 2008 and then in 2009 there was an abrupt increase in the numbers of ESBL producers identified. The majority of K. pneumoniae produced CTX-M-14 and -15, and have replaced SHV-12-producing isolates since 2005. We identified four different major sequence types (STs) among 32 of isolates (i.e. ST17, ST20, and the new ST573 and ST575) and provided insight into their clinical and molecular characteristics. The ST isolates were more likely to produce community-onset infections, were associated with bla(CTX-M) and emerged during the latter part of the study period. ST17 produced CTX-M-15 and SHV-12, and was more likely to be positive for qnrB; ST20 produced CTX-M-14 and was positive for qnrS. The multiresistant ST575 that produced CTX-M-15 appeared in 2009. Our study highlights the importance of molecular epidemiology in providing insight into the emergence, characteristics and distribution of STs among ESBL-producing K. pneumoniae.

Isokinetic Strength and Endurance in Proximal and Distal Muscles in Patients With Peripheral Artery Disease

Background: The objective of this study was to analyze the muscle strength and endurance of the proximal and distal lower-extremity muscles in peripheral artery disease (PAD) patients. Methods: Twenty patients with bilateral PAD with symptoms of intermittent claudication and nine control subjects without PAD were included in the study, comprising 40 and 18 legs, respectively. All subjects performed an isokinetic muscle test to evaluate the muscle strength and endurance of the proximal (knee extension and knee flexion movements) and distal (plantar flexion and dorsiflexion movements) muscle groups in the lower extremity. Results: Compared with the control group, the PAD group presented lower muscle strength in knee flexion (-14.0%), dorsiflexion (-26.0%), and plantar flexion (-21.2%) movements (P < 0.05) but similar strength in knee extension movements (P > 0.05). The PAD patients presented a 13.5% lower knee flexion/extension strength ratio compared with the control subjects (P < 0.05), as well as lower muscle endurance in dorsiflexion (-28.1%) and plantar flexion (-17.0%) movements (P < 0.05). The muscle endurance in knee flexion and knee extension movements was similar between PAD patients and the control subjects (P > 0.05). Conclusion: PAD patients present lower proximal and distal muscle strength and lower distal muscle endurance than control patients. Therefore, interventions to improve muscle strength and endurance should be prescribed for PAD patients.

Evaluation of the efficiencies of helical anchor plates in sand by centrifuge model tests

The uplift capacity of helical anchors normally increases with the number of helical plates. The rate of capacity gain is variable, considering that the disturbance caused by the anchor installation is generally more pronounced in the soil mass above the upper plates than above the lower plates, because the upper soil layers are penetrated more times. The present investigation examines the effect of the number of helices on the performance of helical anchors in sand, based on the results of centrifuge model tests. Uplift loading tests were performed on 12 different types of piles installed in two containers of dry sand prepared with different densities. The measured fractions of the uplift capacity related to each individual helical plate of multi-helix anchors were compared with the fractions predicted by the individual bearing method. The results of this investigation indicate that in double- and triple-helix anchors, the contributions of the second and third plate to the total anchor uplift capacity decreased with the increase of sand relative density and plate diameter. In addition, these experiments demonstrated that the variation of the anchor load-displacement behavior with the number of helices also depends on these parameters.

Clinical, tomographic aspects and relevance of torus palatinus: case report of two sisters

Despite the nomenclature suggested to be a tumor, torus palatinus (TP) is an overgrowth of the bone in the palatal region and represents an anatomic variation. Its prevalence varies among the population studied and its etiology is still unclear; however, it seems to be a multifactorial disorder with genetics and environmental involvement. Surgical removal of the TP is indicated in the following circumstances: (1) deglutition and speech impairment, (2) cancer phobia, (3) traumatized mucosa over the torus, and (4) prosthetic reasons. The aim of this case report is describe cases that occurred in two sisters, emphasizing the genetic etiology of this anatomic variation. In addition, intra-oral exam and computed tomography scan (axial, coronal and sagittal view) provided a detailed assessment of the TP and elimination of other possible diagnoses, furthermore allowed a better analyzes of the anatomic relation with adjacentes structures. No surgical removal was indicated for both cases.

Fibrilação atrial e demência: resultados do São Paulo ageing & health study

FUNDAMENTO: A fibrilação atrial é um fator de risco controverso para demência. OBJETIVO: O objetivo deste estudo é avaliar a associação entre fibrilação atrial e demência em participantes do São Paulo Ageing & Health. MÉTODOS: O São Paulo Ageing & Health é um estudo transversal, de base populacional, de idosos residentes em um uma região de baixa renda da cidade de São Paulo, Brasil. Diagnóstico de demência foi realizado de acordo com o protocolo do grupo 10/66, com base em critérios do Manual de Diagnóstico e Estatística das Perturbações Mentais (DSM-IV). O diagnóstico de fibrilação atrial foi feito por eletrocardiograma de 12 derivações, avaliado por dois cardiologistas. Dados demográficos e de fatores de risco cardiovasculares também foram obtidos. RESULTADOS: A demência foi diagnosticada em 66 (4,3%) e fibrilação atrial em 36 (2,4%) de 1.524 participantes com um eletrocardiograma válido. A razão de chances bruta para demência em participantes com fibrilação atrial foi 2,8 (intervalo de confiança [IC] 95%: 1,0-8,1; p = 0,06) em comparação com indivíduos sem fibrilação atrial. Relação positiva foi encontrada em mulheres (RC 4,2; IC 95%: 1,2-15,1; p = 0,03). Após ajuste para idade, no entanto, essa associação tornou-se não significativa (RC 2,2, IC 95%: 0,6-8,9; p = 0,26). CONCLUSÃO: Não houve associação independente entre a fibrilação atrial e demência nessa amostra. A prevalência da fibrilação atrial pode ser baixa nesta população em virtude da mortalidade cardiovascular prematura.

Percepção dos usuários do sus: expectativa e satisfação do atendimento na Estratégia de Saúde da Família

OBJETIVO: este trabalho buscou analisar as percepções quanto à satisfação e expectativas dos usuários dos serviços de saúde de um território atendido pela Estratégia de Saúde da Família (ESF), do município de Bauru, Estado de São Paulo, e assim, promover um direcionamento no acolhimento e atenção dada aos indivíduos ali atendidos. MÉTODO: trata-se de uma pesquisa qualitativa que utilizou a análise do Discurso do Sujeito Coletivo. Fizeram parte da pesquisa 10 usuários da ESF selecionados por meio de amostragem oportunista. Foi utilizado um questionário semi-estruturado e as entrevistas foram gravadas em áudio para posterior análise do discurso. A referida pesquisa foi aprovada pelo Comitê de Ética em Pesquisa (CEP) da FOB/USP bem como pela Secretaria Municipal de Saúde, sob protocolo numero 167/2009.Para aprovação neste CEP, a pesquisa contou com o cadastro no Conselho Nacional de Saúde (CONEP), via Sistema Nacional de Ética em Pesquisa (SISNEP) RESULTADOS: verificou-se com os resultados obtidos que os usuários estão satisfeitos com o atendimento recebido. Além disso, notou-se a presença da participação popular quanto à divisão de responsabilidades no cuidado à saúde. No entanto, apresentaram queixas quanto à lentidão no referenciamento para a média e a alta complexidade. CONCLUSÃO: a Fonoaudiologia concentra parte das suas atividades na média e alta complexidade, níveis citados como insatisfação do usuário. Assim sendo, sugere-se o desenvolvimento desta pesquisa em locais cuja atuação fonoaudiológica esteja presente.

Talking bodies: nonverbal behavior in the assessment of depression severity

BACKGROUND: Evaluations of clinical depression are traditionally based on verbal information. Nonverbal expressive behavior, however, being associated with a person's reflexive responses, may reveal negative emotional or social processes that are not under complete control of the patients. However, investigations of nonverbal behavior in the evaluation of depressed patients are still scarce. This study examines the nonverbal behaviors of a group of Brazilian patients, associating their nonverbal behavior with severity of depression. METHODS: Forty depressed patients were evaluated at baseline (T0) and after a two-week transcranial direct current stimulation treatment (T1), according to rating scales and through a 21-category Ethogram for assessment of the frequency of nonverbal behaviors displayed during an interview. RESULTS: Behaviors that were related to negative feelings and social disinterest decreased with corresponding clinical improvement and were associated with increased severity of symptoms at T0 and greater negative affect and dissatisfaction at T1. Pro-social behaviors were associated with milder symptoms at T0 and increased after treatment. Facial, head and hand expressive movements stood out as important indicators because of their associations with severity of depression. LIMITATIONS: Duration of behaviors was not assessed and there was not a healthy control group with which to compare the findings. CONCLUSIONS: These results support the usefulness of nonverbal behavior as an evaluation technique in the assessment of clinical depression.

Photodynamic therapy for the treatment of induced mammary tumor in rats

The objective of this work was to evaluate photodynamic therapy (PDT) by using a hematoporphyrin derivative as a photosensitizer and light-emitting diodes (LEDs) as light source in induced mammary tumors of Sprague–Dawley (SD) rats. Twenty SD rats with mammary tumors induced by DMBAwere used. Animals were divided into four groups: control (G1), PDT only (G2), surgical removal of tumor (G3), and submitted to PDT immediately after surgical removal of tumor (G4). Tumors were measured over 6 weeks. Lesions and surgical were LEDs lighted up (200 J/cm2 dose). The light distribution in vivo study used two additional animals without mammary tumors. In the control group, the average growth of tumor diameter was approximately 0.40 cm/week. While for PDT group, a growth of less than 0.15 cm/week was observed, suggesting significant delay in tumor growth. Therefore, only partial irradiation of the tumors occurred with a reduction in development, but without elimination. Animals in G4 had no tumor recurrence during the 12 weeks, after chemical induction, when compared with G3 animals that showed 60 % recurrence rate after 12 weeks of chemical induction. PDT used in the experimental model of mammary tumor as a single therapy was effective in reducing tumor development, so the surgery associated with PDT is a safe and efficient destruction of residual tumor, preventing recurrence of the tumor.