Medicine
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Over the past 10 years, epilepsy genetics has made dramatic progress. This study aimed to analyze the knowledge structure and the advancement of epilepsy genetics over the past decade based on co-word analysis of medical subject headings (MeSH) terms. ⋯ This co-word analysis provides an overview of epilepsy genetics research over the past decade. The 5 research categories display publication hot spots and trends in epilepsy genetics research which could consequently supply some direction for geneticists and epileptologists when launching new projects.
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MicroRNAs (miRNAs) play an important role in the pathogenesis of sepsis, but the association of miRNAs single nucleotide polymorphisms (SNPs) and sepsis risk is not clear. We analyzed plasma levels of miR-187, miR-21, and miR-145 in 180 patients with sepsis and 180 healthy controls were analyzed, and the SNPs: rs12605436, rs13137, and rs353291 were detected by sequencing. Plasma levels of tumor necrosis factor (TNF)-α and interleukin (IL)-6 were measured in all subjects by enzyme-linked immunosorbent assay (ELISA). ⋯ The T allele of the miR-187 SNP rs12605436 was found to be a risk factor for sepsis (OR = 1.403, 95% CI = 1.205-1.612, P < .001). The T allele of the miR-21 SNP rs13137 and the T allele of the miR-145 SNP rs353291 (OR = 0.685, 95% CI = 0.566-0.820, P < .001) were found to be a protective factor for sepsis (OR = 0.755, 95% CI = 0.632-0.896, P < .001). From our results, we can see that the plasma levels of miRNAs containing the SNPs rs12605436, rs13137, and rs353291 are associated with the occurrence of sepsis.
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We report a rare case of neurofibroma in the form of tarsal conjunctival thickening of the eyelid in patients with neurofibromatosis type 1 (NF1), common ocular complications of which are Lisch nodules, choroidal nodules, and optic nerve glioma. ⋯ Neurofibroma should be considered as a differential diagnosis if a patient diagnosed with NF1 shows tarsal conjunctiva thickening.
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Observational Study
Association of GTF2I gene polymorphisms with renal involvement of systemic lupus erythematosus in a Chinese population.
The purposes of the study was to validate the relationship between General transcription factor II-I (GTF2I) genetic variants and kidney involvements of systemic lupus erythematosus (SLE) patients in a Chinese Han population. Samples from 400 SLE patients and 400 age- and sex-matched healthy controls were collected and genotyped by improved multiplex ligation detection reaction technique. The relationship between gene polymorphism of rs117026326, rs73366469, and susceptibility, progression of SLE were analyzed. ⋯ Patients carrying genotype TT of rs117026326 had lower 24-hour urinary total protein (24 hours UTP, g/24 hours), 24-hour urinary protein level (g/L·24 hours), lower frequency of the proteinuria and lupus nephritis (LN). Patients carrying genotype TT at rs73366469 had higher 24-hour urinary protein level, higher frequency of the proteinuria, LN and positive anti-dsDNA than those with other genotypes. This study identified the involvement of GTF2I gene polymorphisms in development of SLE, particularly in renal involvement.
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Observational Study Pragmatic Clinical Trial
Safety and efficacy of elvitegravir, dolutegravir, and raltegravir in a real-world cohort of treatment-naïve and -experienced patients.
The aim of this retrospective cohort study was to compare safety, efficacy and rates and reasons of discontinuation of the 3 currently approved integrase strand transfer inhibitors (INSTIs) elvitegravir (EVG), dolutegravir (DTG), and raltegravir (RAL) in HIV-infected treatment-naïve and -experienced patients in a real-world cohort. One hundred four treatment-naïve patients were prescribed an INSTI-based combined antiretroviral therapy (cART)-regimen (first-line group) and 219 patients were switched to an INSTI-based cART-regimen from another treatment regimen (switch group) at our institution between May 2007 and December 2014. Twelve months after initiation of treatment, 92% of patients in the first-line group (EVG: 96%, n = 22/23; DTG: 92%, n = 34/37; RAL: 90%, n = 28/31) and 88% of patients in the switch group (EVG: 94%, n = 32/34; DTG: 90%, n = 69/77; RAL: 85%, n = 67/79) showed full virological suppression (viral load <50 copies/mL). ⋯ In this real-world setting, INSTI-based ART-regimens were highly efficacious with no significant differences between any of the 3 INSTIs. Overall, side effects were only rarely observed and generally mild in all subgroups. In light of a slightly higher incidence of vertigo and sleep disturbances in patients switched to DTG, awareness of the potential onset of psychiatric symptoms is warranted during follow-up in those patients.