Osteonecrosis of bone flaps after cranioplasty with autologeous cryo-conserved bone flaps is a common phenomenon. The exact reason for it remains unknown. We present a case of a 67-year old patient who had a bone flap necrosis after elective craniotomy and underwent secondary cranioplasty.
View Article and Find Full Text PDFUnderstanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. Despite the existence of several bioinformatic algorithms and servers that predict if a SAS is pathogenic or not, they give little or no information at all on the reasons for pathogenicity prediction and on the actual predicted effect of the SAS on the protein function. Moreover, few actual methods take into account structural information when available for automated analysis.
View Article and Find Full Text PDFDuration of colonization by extended-spectrum β-lactamase-producing (ESBL-E) and factors associated with it were studied in 20 newborns in Seville, Spain. Median duration of colonization was 7.5 months; factors associated with prolonged colonization were delivery by caesarean section, colonization of the mother, and phylogroup B2 isolate.
View Article and Find Full Text PDFIpsilateral approaches remain the standard technique for clipping paraclinoid aneurysms. Surgeons must however be prepared to deal with bony and neural structures restricting accessibility. The application of a contralateral approach has been proposed claiming that some structures in the region can be better exposed from this side.
View Article and Find Full Text PDFIntroduction: Silicones (e.g., dimethicone) are effective and safe alternatives to insecticides for the treatment of head lice.
View Article and Find Full Text PDFBackground: Atopic dermatitis (AD) is associated with increased bacterial colonization and infection of skin and multiple risk factors for extracutaneous infections. However, previous studies found conflicting results about whether AD is associated with increased extracutaneous infections.
Objective: To determine whether extracutaneous bacterial and mycobacterial infections are increased in AD.
Invest Ophthalmol Vis Sci
October 2018
Purpose: To describe the retinal phenotype of pediatric patients with mutations in the retinol dehydrogenase 12 (RDH12) gene.
Methods: Twenty-one patients from 14 families (ages 2-17 years) with RDH12-associated inherited retinal degeneration (RDH12-IRD) underwent a complete ophthalmic exam and imaging with spectral domain optical coherence tomography (SD-OCT) and near infrared and short-wavelength fundus autofluorescence. Visual field extent was measured with Goldmann kinetic perimetry, visual thresholds with dark-adapted static perimetry or with dark-adapted chromatic full-field stimulus testing (FST) and transient pupillometry.
This study sought to determine the prevalence and risk factors for colonization with extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) and carbapenemase-producing Enterobacteriaceae (CPE) in 815 mothers and 800 newborns using a cross-sectional design; 59 women and 13 neonates were colonized by ESBL-E (prevalence (95% confidence interval): 6.7% (5.2-8.
View Article and Find Full Text PDFBackground: ESBL-producing Enterobacteriaceae (ESBL-E) are an emerging cause of infections in children. Data are scarce on incidence rates and risk factors for acquisition of colonisation with ESBL-E.
Methods: A total of 46 and 50 newborns from colonised and non-colonised mothers, respectively, were followed during one year after birth.
Knowing which proteins and RNAs directly interact is essential for understanding cellular mechanisms. Unfortunately, discovering such interactions is costly and often unreliable. To overcome these limitations, we developed rec-YnH, a new yeast two and three-hybrid-based screening pipeline capable of detecting interactions within protein libraries or between protein libraries and RNA fragment pools.
View Article and Find Full Text PDFBackground: Proteins of the ubiquitously expressed core proteome are quantitatively correlated across multiple eukaryotic species. In addition, it was found that many protein paralogues exhibit expression anticorrelation, suggesting that the total level of protein with a given functionality must be kept constant.
Methods: We performed Spearman's rank correlation analyses of gene expression levels for the RAS GTPase subfamily and their regulatory GEF and GAP proteins across tissues and across individuals for each tissue.
Background: Variants in , which encodes pre-mRNA processing factor 31 homolog, are known to cause autosomal-dominant retinitis pigmentosa (adRP) with incomplete penetrance. However, the majority of mutations cause null alleles, with only two proven pathogenic missense mutations. We identified a novel missense mutation in in a family with adRP.
View Article and Find Full Text PDFThe development of new strategies based on cell therapy approaches to correct haemophilia A (HA) requires further insights into new cell populations capable of producing coagulation factor VIII (FVIII) and presenting stable engraftment potential. The major producers of FVIII in the adult are liver sinusoidal endothelial cells (LSECs) and in a lesser degree bone marrow-derived cells, both of which have been shown to ameliorate the bleeding phenotype in adult HA mice after transplantation. We have previously shown that cells from the foetal liver (FL) and the aorta-gonads-mesonephros (AGM) haematopoietic locations possess higher LSEC engraftment potential in newborn mice compared with adult-derived LSECs, constituting likely therapeutic targets for the treatment of HA in neonates.
View Article and Find Full Text PDFIn this study, effects of parabens on antioxidant defenses and oxidative damages in gills and liver of Nile tilapia (Oreochromis niloticus) were evaluated. Adult Nile tilapia were exposed to methyl, ethyl, propyl, butyl and benzylparaben and a mixture of methyl and propylparaben for 6 and 12 days. The biomarkers analyzed were superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), glutathione reductase (GR), total glutathione (GSH-t) and lipid peroxidation measured by malondialdehyde (MDA) content.
View Article and Find Full Text PDFPurpose: Choroideremia (CHM) is an X-linked recessive form of hereditary retinal degeneration, which, at advanced stages, leaves only small central islands of preserved retinal tissue. Unlike many other retinal diseases, the spared tissue in CHM supports excellent central vision and stable fixation. Such spared topography in CHM presents an ideal platform to explore the relationship between preserved central retinal structure and the retinotopic organization of visual cortex by using functional magnetic resonance imaging (fMRI).
View Article and Find Full Text PDFAzospirillum brasilense Sp7 (Sp7) is a diazotrophic, free-living plant growth-promoting rhizobacterium (PGPR) that is increasingly used for its ability to reduce stress and improve nutrient uptake by plants. To test the hypothesis that Sp7 interacts differently with the primary metabolism in C and C plants, differential proteomics were employed to study weekly protein expression in Sp7-treated maize (Zea mays cv. B73) and tomato (Solanum lycopersicum cv.
View Article and Find Full Text PDFPruritus is a common symptom in cutaneous T-cell lymphoma (CTCL) and critically affects the quality of life of patients. Understanding the pruritogenesis has led to development of new therapeutic agents with promising outcomes in management of this recalcitrant symptom. Clinical assessments are warranted to aid in evaluation of treatment response or disease recurrence.
View Article and Find Full Text PDFDNA methylation is an epigenetic mechanism known to affect gene expression and aberrant DNA methylation patterns have been described in cancer. However, only a small fraction of differential methylation events target genes with a defined role in cancer, raising the question of how aberrant DNA methylation contributes to carcinogenesis. As recently a link has been suggested between methylation patterns arising in ageing and those arising in cancer, we asked which aberrations are unique to cancer and which are the product of normal ageing processes.
View Article and Find Full Text PDFImportance: Hemophagocytic lymphohistiocytosis (HLH) has been reported as a serious complication of cutaneous T-cell lymphoma (CTCL). Despite available diagnostic guidelines, it remains a diagnostic and therapeutic challenge in this patient population.
Objectives: To examine the characteristics of CTCL associated with HLH and analyze the presenting signs and symptoms, therapeutic options, and outcome.
Background: Natural selection shapes cancer genomes. Previous studies used signatures of positive selection to identify genes driving malignant transformation. However, the contribution of negative selection against somatic mutations that affect essential tumor functions or specific domains remains a controversial topic.
View Article and Find Full Text PDF