Hypersomnia in Whipple disease: case report.

Arq Neuropsiquiatr. 2006 Sep;64(3B):865-8. Hypersomnia in Whipple disease: case report. Maia LF, Marta M, Lopes V, Rocha N, Lopes C, Martins-da-Silva A, Monteiro L. SourceDepartment of Neurological Disordes and Senses, Hospital Geral de Santo António, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal. Abstract Whipple disease (WD) is a rare systemic infection caused by Tropheryma whippelii. Neurological involvement has been recognised in 40% of patients, either as initial manifestations or during the course of the disease. We report on a 45 years-old man with WD with initial, persistent and irresistible episodes of daytime somnolence. The patient was HLA-DQB1*0602 positive (genetic marker for narcolepsy). WD diagnosis was suspected on clinical and MRI basis and confirmed by histological and immunohistochemical study of duodenal biopsy. Forty months later all clinical features improved, narcoleptic-like episodes disappeared and cerebral MRI and CSF normalised. Longitudinal neurophysiological studies revealed persistent sleep pattern abnormalities with sleep fragmentation, paucity of slow wave and of REM sleep. The disruption of the hypocretin circuitry in the hypothalamic - diencephalic region triggered by the infection was the probable cause of the hypersomnia and narcopleptic symptoms. WD should be added to the list of causes of secondary hypersomnia

Genetic determinants and genotype-phenotype associations in hypertrophic cardiomyopathy - Contribution of a high-throughput sequencing approach

Background and Aims The application of hypertrophic cardiomyopathy (HCM) genetics in clinical practice has been limited by an incomplete knowledge of the genetic background and a poor understanding of genotype-phenotype relationships. The aims of this study were to study genotype-phenotype relationships in HCM, expand the knowledge on the genetic architecture of the disease, explore genetic modifiers of the phenotype and develop a methodology for interpretation of variants detected by high-throughput sequencing platforms. Methods The study population consisted in consecutive and unrelated HCM patients. In order to analyze coding, intronic and regulatory regions of 41 cardiovascular genes, solution-based sequence capture was followed by massive parallel resequencing. Single-nucleotide variants, small insertion/deletions and copy number variants (CNVs) were called. For the analysis of variants in the coding region, rare, non-synonymous, loss-of-function and splice-site variants were defined as candidates. These variants were tested for associations with clinical phenotype and survival. For the analysis of non-coding variation, variants located in known transcription factor (TF) binding sites and 3’UTR miRNA targets were identified. The performance of an insilico pathogenicity prediction strategy incorporating structural features was explored for MYH7 variants. Selected sarcomere-negative families were studied by whole-exome sequencing (WES). Results Eight-hundred-and-seventy-four patients (49.6±15.4 years, 67.8% males) were studied; likely disease-causing sarcomere protein (SP) gene variants were detected in 383 (43.8%). Patients with SP variants were characterized by younger age and higher prevalence of family history of HCM, family history of sudden cardiac death, asymmetric septal hypertrophy, higher maximal wall thickness (P-values<0.0005) and increased cardiovascular death (P-value=0.012). Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (P-value=0.0005). Associations at a lower level of significance were demonstrated with variation in other non-SP genes. Four CNVs were detected in MYBPC3, PDLIM3, TNNT2 and LMNA. Fourteen percent carried non-coding variants mapping to TF binding sites. The pathogenicity prediction for MYH7 missense variants had an accuracy of 0.93; the phenotype predictor had an accuracy of 0.79 and novel genotype-phenotype associations were suggested. Three families were studied using WES; in two of these families the main candidate variants were in OBSCN and TTN. Conclusions Patients with SP variants differed from those without with respect to age, family history, ventricular morphology and prognosis. Novel associations were demonstrated between individual sarcomeric genes and several phenotype traits and for the first time, associations between rare variants in non-SP genes and phenotype were described. CNVs and non-coding variation in SP genes can additionally contribute to the genetic architecture of HCM. Pathogenicity prediction incorporating structural features revealed additional genotype-phenotype associations. Whole-exome sequencing suggested new causal genes

Índice de Resistência Microcirculatória na Avaliação da Disfunção Microvascular Coronária na Miocardiopatia Hipertrófica

Introduction and objectives: Coronary microvascular dysfunction (CMD) is one of the most important pathophysiological features in hypertrophic cardiomyopathy (HCM). The index of microcirculatory resistance (IMR) is an invasive method to assess the coronary microcirculation. The aim was to assess CMD in patients with HCM by IMR. Methods: Adult patients with HCM without epicardial coronary artery disease underwent cardiac catheterization for the assessment of CMD by IMR (normal cut-off value ≤22.0) and coronary flow reserve (CFR) (normal cut-off value ≥2). Cardiovascular magnetic resonance (CMR) was performed to assess the ischemic burden by perfusion imaging during regadenoson-induced hyperemia, and the extent of myocardial fibrosis was assessed by late gadolinium enhancement (LGE), native T1 mapping and extracellular volume (ECV). Results: Fourteen patients were enrolled with a mean age of 62.8±6.2years, 8 (57.1%) males, of whom 9 (64.3%) had obstructive HCM. Using IMR, CMD was detected in 4 (29%) patients. Among four patients with an IMR>22.0, all had non-obstructive HCM and two had angina. CFR22.0, perfusion defects were found in two of the three patients who underwent stress CMR. Increased ECV (>28%) was documented in two of the patients with IMR>22 and in three of the patients with IMR≤22.0. LGE was >15% in 2 of the patients with IMR>22 and in 4 with IMR≤22.0. Conclusions: IMR assessment in HCM is feasible and safe. Patients with abnormal IMR seemed to have more significant tissue abnormalities on CMR.info:eu-repo/semantics/publishedVersio

Production and cash flow of oil palm intercropping systems an amazonian degraded area.

The objective of this study was to analyze the technical viability and cash flow of intercrop cultivation in the first three years after oil palm planting in a degraded area of the Amazon. Four intercropping systems were tested: SI - oil palm + banana; SII - oil palm + cassava; SIII - oil palm + pineapple, and SIV - oil palm in monoculture. Intercropping was performed during the first three years of oil palm planting and the cash flow of the systems evaluated during this period. The oil palm bunches production was evaluated from 7th to 10th year after planting. SIII had best financial performance, with deployment and maintenance costs 100% amortized over the three years of the system. The SI and SII systems amortized 86.7% and 64.5% of the costs, respectively. Oil palm bunches production was not affected by intercropping. Yield of intercrops was similar to that expected from the crops in monoculture. The intercropping systems evaluated provide a technically and economically viable alternative to generate income and amortize planting and maintenance costs during oil palm juvenile phase in degraded areas of the Amazon

Influência de metodologia de inoculação e da concentração de inóculo de Macrophomina phaseolina no desenvolvimento da podridão-cinzenta-do-caule em feijão-caupi.

A podridão-cinzenta-do-caule é uma doença radicular que acomete o feijão-caupi, sobretudo em áreas de cultivo sob estresse hídrico. Em ensaios visando à resistência de germoplasmas de feijão-caupi a M. phaseolina, a padronização de métodos de inoculação e da quantidade do inóculo a ser adotada é essencial para se obter êxito nas avaliações. Este trabalho teve como objetivo avaliar métodos de inoculação e o efeito da concentração do inóculo de M. phaseolina no desenvolvimento da podridão-cinzenta-do-caule em feijão-caupi (BRS Potengi). Os ensaios foram realizados na Embrapa Meio-Norte. Os métodos consistiram na infestação do solo, previamente esterilizado, com grãos de arroz com casca, sementes de crotalária infestados com o patógeno, na deposição de 10 mL de solução de conídios de M. phaseolina no colo da planta e na imersão das sementes em solução de conídios antes do plantio. A avaliação do efeito da concentração do inóculo de M. phaseolina em feijão-caupi foi efetuada pela infestação do solo antes do plantio, com cinco concentrações de inóculo, constituída por sementes de crotalária infestadas pelo patógeno. O delineamento foi inteiramente casualizado com cinco repetições, representadas por cinco plantas por vaso. A avaliação da doença foi efetuada 20 dias após a semeadura com o auxílio de uma escala de notas de zero a cinco. Dos métodos analisados o que mostrou melhor resultado com relação à severidade da doença foi o método da deposição de sementes de crotalária na cova de plantio, apresentando uma severidade de 60%. A análise de regressão mostrou que todas as concentrações de inóculo do patógeno causaram sintomas da doença, destacando a concentração de cinco sementes de crotalária na cova de plantio que apresentou maior severidade da doença, 43,68%

General purpose medical digital library definition

The need of an approach for the definition of a platform-independent medical digital library, using only 2 open-source tools, will be described. To test the need and the success of such an approach, a library will 3 be created, which can later be used in a larger scale as a general purpose digital medical tool, when comes 4 the need to evaluate an image. 5 As a first test, the library will be used in the development of a tool aimed to aid doctors in otoplasty 6 candidates&apos; evaluation. This tool shall be developed and tested first on a mobile platform, so the potential 7 of the developed library can be tested on the most adverse situation. Also, the resulting library will be 8 license free, making easier the collaboration of others in development and integration with other software, 9 translating in a better spread of the library in medical practice. 10 CCS Concepts 11 • Medical imaging, mobile devices, digital medical tool. 12 Keywords 13 Medical imaging, open-source, image analysis software library, digital medical tool

Influência de metodologia de inoculação e da concentração de inóculo de Macrophomina phaseolina no desenvolvimento da podridão-cinzenta-do-caule em feijão-caupi.

A podridão-cinzenta-do-caule é uma doença radicular que acomete o feijão-caupi, sobretudo em áreas de cultivo sob estresse hídrico. Em ensaios visando à resistência de germoplasmas de feijão-caupi a M. phaseolina, a padronização de métodos de inoculação e da quantidade do inóculo a ser adotada é essencial para se obter êxito nas avaliações. Este trabalho teve como objetivo avaliar métodos de inoculação e o efeito da concentração do inóculo de M. phaseolina no desenvolvimento da podridão-cinzenta-do-caule em feijão-caupi (BRS Potengi). Os ensaios foram realizados na Embrapa Meio-Norte. Os métodos consistiram na infestação do solo, previamente esterilizado, com grãos de arroz com casca, sementes de crotalária infestados com o patógeno, na deposição de 10 mL de solução de conídios de M. phaseolina no colo da planta e na imersão das sementes em solução de conídios antes do plantio. A avaliação do efeito da concentração do inóculo de M. phaseolina em feijão-caupi foi efetuada pela infestação do solo antes do plantio, com cinco concentrações de inóculo, constituída por sementes de crotalária infestadas pelo patógeno. O delineamento foi inteiramente casualizado com cinco repetições, representadas por cinco plantas por vaso. A avaliação da doença foi efetuada 20 dias após a semeadura com o auxílio de uma escala de notas de zero a cinco. Dos métodos analisados o que mostrou melhor resultado com relação à severidade da doença foi o método da deposição de sementes de crotalária na cova de plantio, apresentando uma severidade de 60%. A análise de regressão mostrou que todas as concentrações de inóculo do patógeno causaram sintomas da doença, destacando a concentração de cinco sementes de crotalária na cova de plantio que apresentou maior severidade da doença, 43,68%.CONAC 2012. Disponível em: http://www.conac2012.org/resumos/pdf/193a.pdf. Acesso em: 06 ago. 2013