Articles: phenotype.
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Multicenter Study Observational Study
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study.
Host responses during sepsis are highly heterogeneous, which hampers the identification of patients at high risk of mortality and their selection for targeted therapies. In this study, we aimed to identify biologically relevant molecular endotypes in patients with sepsis. ⋯ Center for Translational Molecular Medicine, Netherlands.
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Multicenter Study
Influence of renal dysfunction phenotype on mortality in decompensated heart failure with preserved and mid-range ejection fraction.
Natriuretic peptides or the blood urea nitrogen to creatinine ratio (BUN/creat) can identify high- vs low-risk renal impairment (RI) in patients with heart failure and reduced ejection fraction (HF-REF). However, the situation in HF patients with preserved ejection fraction (HF-PEF) and mid-range ejection fraction (HF-MREF) remains unclear. ⋯ In this clinical cohort of acute decompensated HF-PEF and HF-MREF patients, the combined use of NT-proBNP and BUN/creat stratifies patients with RI into groups with significantly different prognoses.
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Multicenter Study
Phenotypic analysis of 303 multiplex families with common epilepsies.
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. ⋯ Of the 62 familial focal epilepsy families, two previously undescribed familial focal syndrome patterns were evident: 15 families had posterior quadrant epilepsies, including seven with occipito-temporal localization and seven with temporo-parietal foci, and four families displayed familial focal epilepsy of childhood with multiple affected siblings that was suggestive of recessive inheritance. The findings suggest (i) specific patterns of syndromic familial aggregation occur, including newly recognized forms of familial focal epilepsy; (ii) although syndrome-specificity usually occurs in multiplex families, the one-third of families with features of both focal and generalized epilepsy is suggestive of shared genetic determinants; and (iii) patterns of features observed across families including pedigree structure, sex, and age of onset may hold clues for future gene identification. Such detailed phenotypic information will be invaluable in the conditioning and interpretation of forthcoming sequencing data to understand the genetic architecture and inter-relationships of the common epilepsy syndromes.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2017
Multicenter StudyBrain lesion distribution criteria distinguish MS from AQP4-antibody NMOSD and MOG-antibody disease.
Neuromyelitis optica spectrum disorders (NMOSD) can present with very similar clinical features to multiple sclerosis (MS), but the international diagnostic imaging criteria for MS are not necessarily helpful in distinguishing these two diseases. ⋯ This study suggests that the brain MRI criteria for differentiating RRMS from NMOSD are sensitive and specific for all phenotypes.
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Some studies suggest that asthma-COPD overlap syndrome (ACOS) is associated with worse outcomes than chronic obstructive pulmonary disease (COPD). The goal of this study was to further explore the clinical characteristics and survival of patients with ACOS identified in a real-life cohort of patients with COPD. ⋯ Compared to 'pure' COPD patients, patients with ACOS exhibit lower cumulative smoking, suffer more from obesity and atopic diseases, and use more asthma treatments. Disease severity (dyspnea, QoL, exacerbations, comorbidities) and prognosis (mortality) are not different from 'pure' COPD patients.