314 research outputs found

    Ileocecal appendix involvement in fabry disease mimicking an acute abdomen

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    Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body. The clinical picture is highly variable and depends on cellular storage deposition ranging from neurological, cutaneous and renal symptoms to cardiac and gastrointestinal ones. We are reporting about the case of a young female carrier of alpha-galactosidase A (agalA) gene mutation who was treated at our out-clinic practice for minimal neurological involvement (achroparaestesia). She was subsequently admitted in order to undergo appendectomy because of an acute severe abdominal pain. The histological examination of her appendix revealed only a deposition of globotriaosylceramide (Gb3) without any sign of acute inflammation. This case confirms the extreme clinical variability of Fabry disease and how the gastrointestinal involvement diagnosis can be misse

    PERAN WANITA USAHATANI TANAMAN HIAS TERHADAP PENDAPATAN KELUARGA MISKIN DI DESA TOLOMBUKAN KECAMATAN PASAN KABUPATEN MINAHASA TENGGARA

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    The purpose of this study was to determine the role of ornamental plant farming women in poor families in Tolombukan Village, Pasan District, Southeast Minahasa Regency. The research was conducted for three months, from December to February 2020. The data used are primary data obtained through interviews with 20 women who are farming ornamental plants. Secondary data were obtained from the Tolombukan Village Office. The data analysis used is descriptive, contribution formula and the data is presented in tabular form. The role of women as main breadwinners if it has greater than 50 percent. The results showed that the role of women as wives who cultivated ornamental plants in Tolombukan Village was as additional breadwinners and not the main breadwinners for their families.

    Benthic Composition of a Healthy Subtropical Reef: Baseline Species-Level Cover, with an Emphasis on Algae, in the Northwestern Hawaiian Islands

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    The Northwestern Hawaiian Islands (NWHI) are considered to be among the most pristine coral reef ecosystems remaining on the planet. These reefs naturally contain a high percent cover of algal functional groups with relatively low coral abundance and exhibit thriving fish communities dominated by top predators. Despite their highly protected status, these reefs are at risk from both direct and indirect anthropogenic sources. This study provides the first comprehensive data on percent coverage of algae, coral, and non-coral invertebrates at the species level, and investigates spatial diversity patterns across the archipelago to document benthic communities before further environmental changes occur in response to global warming and ocean acidification. Monitoring studies show that non-calcified macroalgae cover a greater percentage of substrate than corals on many high latitude reef sites. Forereef habitats in atoll systems often contain high abundances of the green macroalga Microdictyon setchellianum and the brown macroalga Lobophora variegata, yet these organisms were uncommon in forereefs of non-atoll systems. Species of the brown macroalgal genera Padina, Sargassum, and Stypopodium and the red macroalgal genus Laurencia became increasingly common in the two northernmost atolls of the island chain but were uncommon components of more southerly islands. Conversely, the scleractinian coral Porites lobata was common on forereefs at southern islands but less common at northern islands. Currently accepted paradigms of what constitutes a “healthy” reef may not apply to the subtropical NWHI, and metrics used to gauge reef health (e.g., high coral cover) need to be reevaluated

    Acute Demyelinating Disease after Oral Therapy with Herbal Extracts

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    Central nervous system demyelinating processes such as multiple sclerosis and acute disseminated encephalomyelitis constitute a group of diseases not completely understood in their physiopathology. Environmental and toxic insults are thought to play a role in priming autoimmunity. The aim of the present report is to describe a case of acute demyelinating disease with fatal outcome occurring 15 days after oral exposure to herbal extracts

    Listen to genes : dealing with microarray data in the frequency domain

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    Background: We present a novel and systematic approach to analyze temporal microarray data. The approach includes normalization, clustering and network analysis of genes. Methodology: Genes are normalized using an error model based uniform normalization method aimed at identifying and estimating the sources of variations. The model minimizes the correlation among error terms across replicates. The normalized gene expressions are then clustered in terms of their power spectrum density. The method of complex Granger causality is introduced to reveal interactions between sets of genes. Complex Granger causality along with partial Granger causality is applied in both time and frequency domains to selected as well as all the genes to reveal the interesting networks of interactions. The approach is successfully applied to Arabidopsis leaf microarray data generated from 31,000 genes observed over 22 time points over 22 days. Three circuits: a circadian gene circuit, an ethylene circuit and a new global circuit showing a hierarchical structure to determine the initiators of leaf senescence are analyzed in detail. Conclusions: We use a totally data-driven approach to form biological hypothesis. Clustering using the power-spectrum analysis helps us identify genes of potential interest. Their dynamics can be captured accurately in the time and frequency domain using the methods of complex and partial Granger causality. With the rise in availability of temporal microarray data, such methods can be useful tools in uncovering the hidden biological interactions. We show our method in a step by step manner with help of toy models as well as a real biological dataset. We also analyse three distinct gene circuits of potential interest to Arabidopsis researchers

    Transmembrane protein 88: A Wnt regulatory protein that specifies cardiomyocyte development

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    Genetic regulation of the cell fate transition from lateral plate mesoderm to the specification of cardiomyocytes requires suppression of Wnt/β-catenin signaling, but the mechanism for this is not well understood. By analyzing gene expression and chromatin dynamics during directed differentiation of human embryonic stem cells (hESCs), we identified a suppressor of Wnt/β-catenin signaling, transmembrane protein 88 (TMEM88), as a potential regulator of cardiovascular progenitor cell (CVP) specification. During the transition from mesoderm to the CVP, TMEM88 has a chromatin signature of genes that mediate cell fate decisions, and its expression is highly upregulated in advance of key cardiac transcription factors in vitro and in vivo. In early zebrafish embryos, tmem88a is expressed broadly in the lateral plate mesoderm, including the bilateral heart fields. Short hairpin RNA targeting of TMEM88 during hESC cardiac differentiation increases Wnt/β-catenin signaling, confirming its role as a suppressor of this pathway. TMEM88 knockdown has no effect on NKX2.5 or GATA4 expression, but 80% of genes most highly induced during CVP development have reduced expression, suggesting adoption of a new cell fate. In support of this, analysis of later stage cell differentiation showed that TMEM88 knockdown inhibits cardiomyocyte differentiation and promotes endothelial differentiation. Taken together, TMEM88 is crucial for heart development and acts downstream of GATA factors in the pre-cardiac mesoderm to specify lineage commitment of cardiomyocyte development through inhibition of Wnt/β-catenin signaling

    Hemangiopericytoma in the sacrococcygeal space: a case report

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    <p>Abstract</p> <p>Introduction</p> <p>A hemangiopericytoma is a rare, soft-tissue tumor of vascular origin derived from a pericyte of Zimmerman, which is a modified smooth muscle cell that surrounds the small blood vessels. Hemangiopericytomas can occur wherever there are vascular capillaries. However, there are no previous reports of a hemangiopericytoma in the sacrococcygeal space.</p> <p>Case presentation</p> <p>We describe the first reported case of a hemangiopericytoma found in the sacrococcygeal space. A 47-year-old Japanese woman presented with a palpable tumor on the left side of her anus. Preoperative imaging indicated that the tumor was in the sacrococcygeal space without invasion of other organs. A complete resection was performed via a parasacral incision. The histological and immunohistochemical staining patterns supported the diagnosis of a hemangiopericytoma.</p> <p>Conclusion</p> <p>A complete resection without piecemeal excision is the best way to treat a hemangiopericytoma. Recognizing the presence of a hemangiopericytoma in the sacrococcygeal space requires appropriate surgery.</p

    Exchanging screen for non-screen sitting time or physical activity might attenuate depression and anxiety: A cross-sectional isotemporal analysis during early pandemics in South America

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    Objectives: To examine the theoretical substitutions of screen exposure, non-screen sitting time, moderate and vigorous physical activity with depressive and anxiety symptoms in South American adults during the COVID-19 pandemic. Design: A cross-sectional study during the first months of the COVID-19 pandemic with data from 1981 adults from Chile, Argentina, and Brazil. Methods: Depressive and anxiety symptoms were assessed using the Beck Depression and Anxiety Inventories. Participants also reported physical activity, sitting time, screen exposure, sociodemographic, and tobacco use data. Isotemporal substitution models were created using multivariable linear regression methods. Results: Vigorous physical activity, moderate physical activity, and screen exposure were independently associated with depression and anxiety symptoms. In adjusted isotemporal substitution models, replacing 10 min/day of either screen exposure or non-screen sitting time with any intensity of physical activity was associated with lower levels of depressive symptoms. Improvements in anxiety symptoms were found when reallocating either screen exposure or non-screen sitting time to moderate physical activity. Furthermore, replacing 10 min/day of screen exposure with non-screen sitting time was beneficially associated with anxiety (B = − 0.033; 95 % CI = − 0.059, − 0.006) and depression (B = − 0.026; 95 % CI = − 0.050, − 0.002). Conclusions: Replacement of screen exposure with any intensity of physical activity or non-screen sitting time could improve mental health symptoms. Strategies aiming to reduce depressive and anxiety symptoms highlight physical activity promotion. However, future interventions should explore specific sedentary behaviors as some will relate positively while others negatively.Fil: Sadarangani, Kabir P.. Universidad Autónoma de Chile; Chile. Universidad Diego Portales; ChileFil: Schuch, Felipe Barreto. Universidade Federal de Santa Maria; Brasil. Universidad Autónoma de Chile; ChileFil: de Roia, Gabriela Fernanda. Universidad de Flores. Laboratorio de Estudios en Actividad Física;Fil: Martínez Gomez, David. Universidad Autónoma de Madrid; España. Consejo Superior de Investigaciones Científicas; España. Consortium for Biomedical Research in Epidemiology and Public Health; EspañaFil: Chávez, Róbinson. Universidad Andrés Bello; ChileFil: Lobo, Pablo Roberto. Universidad de Flores. Laboratorio de Estudios en Actividad Física;Fil: Cristi Montero, Carlos. Pontificia Universidad Católica de Valparaíso; ChileFil: Werneck, André O.. Universidade de Sao Paulo; BrasilFil: Alzahrani, Hosam. Taif University; Arabia SauditaFil: Ferrari, Gerson. Universidad de Santiago de Chile; ChileFil: Ibañez, Agustin Mariano. Universidad de San Andrés; Argentina. University of California; Estados Unidos. Trinity College Dublin; Irlanda. Universidad Adolfo Ibañez; Chile. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Silva, Danilo R.. Universidade Federal de Sergipe; Brasil. Universidad Pablo de Olavide; EspañaFil: Von Oetinger, Astrid. Universidad Diego Portales; Chile. Universidad Mayor; ChileFil: Matias, Thiago S.. Universidade Federal de Santa Catarina; BrasilFil: Grabovac, Igor. Universidad de Viena; AustriaFil: Meyer, Jacob. Iowa State University; Estados Unido

    Socio-demographic patterning of objectively measured physical activity and sedentary behaviours in eight Latin American countries: findings from the ELANS study

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    Physical activity (PA) and sedentary behaviours (SB) are two independent risk factors for non-communicable diseases. However, there is a lack of objectively measured information on PA and SB in low- and middle-income countries. The aim of this study was to use objective data to characterise socio-demographic patterns of PA and SB in eight Latin American countries. 2,732 participants (aged 15-65 years) from the Latin American Study of Nutrition and Health (ELANS) were included. PA and SB data were collected using accelerometers. Overall and country-specific average levels of time spent in PA and SB were compared by sex, age, socioeconomic and education level. Overall, the mean time spent in SB was 571.6 min/day, ranging from 553.8 min/day in Chile to 596.7 min/day in Peru. Average levels of light, moderate-to-vigorous physical activity (MVPA) and total PA were 311.1 min/day (95% CI: 307.7; 314.5), 34.9 min/day (95% CI: 34.0; 35.9) and 7531.2 MET-min/week (95% CI: 7450.4; 7611.9), respectively. MVPA and total PA were higher in men than women. The prevalence of physical inactivity was 40.6%, ranging from 26.9% (Chile) to 47% (Costa Rica and Venezuela). Women were more physically inactive than men (47.7% versus 33.0%). SB levels were highest among those with higher education; PA graded positively with socioeconomic level. Our findings can inform the planning of health policies and programmes designed to reduce levels of physical inactivity, as well as inform the local and cultural adaptation of these policies and programmes for implementation in Latin America

    Friedrich Hayek and his visits to Chile

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    F. A. Hayek took two trips to Chile, the first in 1977, the second in 1981. The visits were controversial. On the first trip he met with General Augusto Pinochet, who had led a coup that overthrew Salvador Allende in 1973. During his 1981 visit, Hayek gave interviews that were published in the Chilean newspaper El Mercurio and in which he discussed authoritarian regimes and the problem of unlimited democracy. After each trip, he complained that the western press had painted an unfair picture of the economic situation under the Pinochet regime. Drawing on archival material, interviews, and past research, we provide a full account of this controversial episode in Hayek’s life
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