214 research outputs found

    Case Reports : Rheumatoid pleural effusions and trapped lung : An uncommon complication of rheumatoid arthritis

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    Rheumatoid arthritis (RA) is a disease affecting approximately 1[percent] of the population. It is familiarly defined as "chronic, symmetric, debilitating and destructive inflammatory polyarthritis characterized by proliferative synovial tissue (pannus) formation in affected joints" (1). Pain symptoms are typically worse in the morning, thedisease affects females more than males, and ulnar deviation and swan neck deformities are common. Perhaps less well known is the extensive list of extra-articular manifestations (EAMs) that can occur at any time duringthe course of the disease. EAMs affect an estimated 18-41[percent] of patients with RA (1). Renal, pulmonary cardiovascular, nervous, and integumentary system manifestations have all been described. Our case is that of anRA patient with shortness of breath and pleural effusions

    Is the reduced growth of the halophyte Suaeda maritima under hypoxia due to toxicity of iron or manganese?

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    For most plants, submergence in water is a rare occurrence, but for plants that grow on salt marshes flooding with seawater may be a twice-daily event. This is the case for plants of the halophyte Suaeda maritima, growing at low elevations on salt marshes. These plants are, however, smaller than those growing at higher elevations, where flooding is less frequent and the soil is better drained. We investigated whether the reduced growth brought about by flooding with saline water was a consequence of toxicity of manganese or iron. Seedlings of S. maritima were grown both in a sold medium (a mixture of salt-marsh mud and sand) that was either submerged twice a day or continuously flooded with half-strength seawater and in a hydroponic solution where the oxygen concentration was adjusted by bubbling with nitrogen or air. Hypoxia, reduced the growth of plants in both solid and liquid media and resuted in increases in manganese and iron in the shoots and roots. Experiments in culture solution showed that elevated levels of manganese were unlikely to be toxic, but that iron did reach toxic concentrations in flooded plants

    SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

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    IntroductionSpinal muscular atrophy (SMA) is caused by homozygous loss of the SMN1 gene with SMN2 gene copy number correlating with disease severity. Rarely SMA is caused by a deletion on one allele and a pathogenic variant on the other. The pathogenic missense variant c.5C>G (p.Ala2Gly) correlates with a mild disease phenotype that does not correlate with SMN2 copy number. In a mouse model the c.5C>G transgene produces SMN that is thought to form partially functional SMN complexes, but levels in humans have not yet been investigated.MethodsWe identified two patients with mild SMA caused by a heterozygous deletion of SMN1 and the heterozygous variant, c.5C>G. Molecular findings were confirmed with deletion/duplication analysis and Sanger sequencing. Skin fibroblasts were collected and cultured, and SMN expression was analyzed using immunofluorescence.ResultsTwo patients with slowly progressing mild weakness were confirmed to have heterozygous pathogenic missense variant c.5C>G and a heterozygous deletion of SMN1. Their clinical presentation revealed much milder disease progression than patients with matched SMN2 copy number. Analysis of the patients’ fibroblasts revealed much higher numbers of SMN nuclear complexes than a patient with a homozygous SMN1 deletion and matched SMN2 copy number.ConclusionsThese case reports reinforce that the rare c.5C>G variant causes mild disease. Furthermore, the analysis of SMA nuclear gems in patient samples supports the theory that the p.Ala2Gly SMN can form partially functional SMN complexes that may carry out essential cellular functions and result in mild disease

    Quantitative Historical Change in Bumblebee (Bombus spp.) Assemblages of Red Clover Fields

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    Flower visiting insects provide a vitally important pollination service for many crops and wild plants. Recent decline of pollinating insects due to anthropogenic modification of habitats and climate, in particular from 1950's onwards, is a major and widespread concern. However, few studies document the extent of declines in species diversity, and no studies have previously quantified local abundance declines. We here make a quantitative assessment of recent historical changes in bumblebee assemblages by comparing contemporary and historical survey data. species observed in the 1930's, five species were not observed at present. The latter were all long-tongued, late-emerging species.Because bumblebees are important pollinators, historical changes in local bumblebee assemblages are expected to severely affect plant reproduction, in particular long-tubed species, which are pollinated by long-tongued bumblebees

    Legionella Infection Risk from Domestic Hot Water

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    We investigated Legionella and Pseudomonas contamination of hot water in a cross-sectional multicentric survey in Italy. Chemical parameters (hardness, free chlorine, and trace elements) were determined. Legionella spp. were detected in 33 (22.6%) and Pseudomonas spp. in 56 (38.4%) of 146 samples. Some factors associated with Legionella contamination were heater type, tank distance and capacity, water plant age, and mineral content. Pseudomonas presence was influenced by water source, hardness, free chlorine, and temperature. Legionella contamination was associated with a centralized heater, distance from the heater point >10 m, and a water plant >10 years old. Furthermore, zinc levels of <20 μg/L and copper levels of >50 μg/L appeared to be protective against Legionella colonization. Legionella species and serogroups were differently distributed according to heater type, water temperature, and free chlorine, suggesting that Legionella strains may have a different sensibility and resistance to environmental factors and different ecologic niches
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