17 items found

Groups: Metadata-only Access Tags: Genetics

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    Spirometric changes during exacerbations of COPD: a post hoc analysis of the ...

    Abstract Background Exacerbations of chronic obstructive pulmonary disease (COPD) are associated with loss of lung function and poor outcomes for patients. However, there are...
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    The impairment of small nerve fibers in severe sepsis and septic shock

    Abstract Background A decrease of small nerve fibers in skin biopsies during the course of critical illness has been demonstrated recently. However, the diagnostic use of skin...
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    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysos...

    Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe...
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    Optic-nerve-transmitted eyeshine, a new type of light emission from fish eyes

    Abstract Background Most animal eyes feature an opaque pigmented eyecup to assure that light can enter from one direction only. We challenge this dogma by describing a...
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    Local measles vaccination gaps in Germany and the role of vaccination providers

    Abstract Background Measles elimination in Europe is an urgent public health goal, yet despite the efforts of its member states, vaccination gaps and outbreaks occur. This study...
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    Infection prevention and control measures and tools for the prevention of ent...

    Abstract Background Infections with carbapenem-resistant Enterobacteriaceae (CRE) are increasingly being reported from patients in healthcare settings. They are associated with...
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    Increased cortical activation upon painful stimulation in fibromyalgia syndrome

    Abstract Background Fibromyalgia syndrome (FMS) is a chronic condition characterized by widespread pain and associated symptoms. We investigated cerebral activation in FMS...
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    Nosological delineation of congenital ocular motor apraxia type Cogan: an obs...

    Abstract Background The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some...
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    Maternal eNOS Deficiency Determines a Fatty Liver Phenotype of the Offspring ...

    Maternal environmental factors can impact the phenotype of the offspring via the induction of epigenetic adaptive mechanisms. The advanced fetal programming hypothesis proposes...
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    SRF modulates seizure occurrence, activity induced gene transcription and hip...

    Abstract A hallmark of temporal lobe epilepsy (TLE) is hippocampal neuronal demise and aberrant mossy fiber sprouting. In addition, unrestrained neuronal activity in TLE...
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    Inflammatory profile in LRRK2-associated prodromal and clinical PD

    Abstract Background There is evidence for a relevant role of inflammation in the pathogenesis of Parkinsonâ s disease (PD). Mutations in the LRRK2 gene represent the most...
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    Why are some groups physically active and others not? : A contrast group anal...

    Abstract Background This field study aims to investigate the determinants of physical activity of particularly active and inactive groups in their leisure environments. In order...
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    Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation o...

    Abstract To investigate the genetics of late-onset myasthenia gravis (LOMG), we conducted a genome-wide association study imputation of >6 million single nucleotide...
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    Urinary Neutrophil Gelatinase-Associated Lipocalin (NGAL) and proteinuria pre...

    Abstract Background Nephropathia epidemica (NE) is a mild form of hemorrhagic fever with renal syndrome (HFRS) that is caused by the Puumala virus. Periodic outbreaks have been...
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    CHI3L1 polymorphisms, cord blood YKL-40 levels and later asthma development

    Abstract Background Single nucleotide polymorphisms (SNPs) in chitinase 3-like 1 (CHI3L1), the gene encoding YKL-40, and increased serum YKL-40 levels are associated with severe...
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    Current progress and future opportunities in applications of bioinformatics f...

    Abstract The Mid-Atlantic Microbiome Meet-up (M3) organization brings together academic, government, and industry groups to share ideas and develop best practices for microbiome...
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    Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability...

    Abstract Background Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early...