Porterfieldknudsen9715
ent of symptom management interventions that incorporate aspects of spirituality.
Hearing loss (HL) is the most common sensory organ dysfunction disease. The cause is often complex, though genetics are the main factor.
In this study, we investigated a Chinese family with non-syndromic delayed post-lingual deafness. Comprehensive data collection was performed on this family's members, including basic information, audiological examinations, blood system examinations and imaging examinations. A pedigree diagram was drawn and the genetic patterns were analyzed.
A new gene mutation, c.314A>Tp.Y105F in the MYH9 exon, was confirmed by next generation sequencing and Sanger sequencing. This mutation co-segregated with the phenotype in the pedigree. Patients in this family present bilateral symmetry and gradual and delayed high-frequency sensorineural hearing loss. The age of onset was approximately 30 years old. Except for hearing loss, no lesions were seen in other organs, especially the blood system.
The identification and detection of a novel MYH9 mutation may be of great significance to provide the basis for gene function research and genetic consultation.
The identification and detection of a novel MYH9 mutation may be of great significance to provide the basis for gene function research and genetic consultation.A rise in drug-resistant tuberculosis (TB) cases demands continued efforts towards the discovery and development of drugs and vaccines. Secretory proteins of Mycobacterium tuberculosis (H37Rv) are frequently studied for their antigenicity and their scope as protein subunit vaccines requires further analysis. In this study, Rv3899c of H37Rv emerges as a potential vaccine candidate on its evaluation by several bioinformatics tools. It is a non-toxic, secretory protein with an 'immunoglobulin-like' fold which does not show similarity with a human protein. Through BlastP and MEME suite analysis, we found Rv3899c homologs in several mycobacterial species and its antigenic score (0.54) to compare well with the known immunogens such as ESAT-6 (0.56) and Rv1860 (0.52). Immunology inhibitor Structural examination of Rv3899c predicted ten antigenic peptides, an accessibility profile of the antigenic determinants constituting B cell epitope-rich regions and a low abundance of antigenic regions (AAR) value. Significantly, STRING analysis showed ESX-2 secretion system proteins and antigenic PE/PPE proteins of H37Rv as the interacting partners of Rv3899c. Further, molecular docking predicted Rv3899c to interact with human leukocyte antigen HLA-DRB1*0401 through its antigenically conserved motif (RAAEQQRLQRIVDAVARQEPRISWAAGLRDDGTT). Interestingly, the binding affinity was observed to increase on citrullination of its Arg1 residue. Taken together, the computational characterization and predictive information suggest Rv3899c to be a promising TB vaccine candidate, which should be validated experimentally.
Pyeloplasty for ureteropelvic junction obstruction is the gold standard for surgical repair. There are currently no reports outlining optimal suturing technique. This paper compares the effect of suturing technique in dismembered pediatric pyeloplasty (open and laparoscopic) on post-operative outcomes.
A non-concurrent cohort study assessed different suturing techniques in both open and laparoscopic dismembered pyeloplasty performed two senior urologists at a tertiary referral pediatric center. Cases were stratified according to different suturing techniques for ureteropelvic anastomosis and subgroup analysis was performed according to open or laparoscopic approach.
A total of 185 renal units were evaluated. The overall comparative analysis of different anastomotic suturing techniques and clustered analysis according to open and laparoscopic approach showed no significant differences on post-operative complication rate, leakage, stenosis, redo-pyeloplasties, operative time and hospital stay. There was a significant difference between suturing techniques on stent duration, age and weight of the patient. There was no effect of suture type or size on post-operative complication rate, leakage, UPJ stenosis and redo pyeloplasty rates, however, sample sizes were small.
Suturing technique has no significant effect on the surgical outcomes assessed regardless of open or laparoscopic technique.
Suturing technique has no significant effect on the surgical outcomes assessed regardless of open or laparoscopic technique.Motion perception deficits in dyslexia show a large intersubjective variability, partly reflecting genetic factors influencing brain architecture development. In previous work, we have demonstrated that dyslexic carriers of a mutation of the DCDC2 gene have a very strong impairment in motion perception. In the present study, we investigated structural white matter alterations associated with the poor motion perception in a cohort of twenty dyslexics with a subgroup carrying the DCDC2 gene deletion (DCDC2d+) and a subgroup without the risk variant (DCDC2d-). We observed significant deficits in motion contrast sensitivity and in motion direction discrimination accuracy at high contrast, stronger in the DCDC2d+ group. Both motion perception impairments correlated significantly with the fractional anisotropy in posterior ventral and dorsal tracts, including early visual pathways both along the optic radiation and in proximity of occipital cortex, MT and VWFA. However, the DCDC2d+ group showed stronger correlations between FA and motion perception impairments than the DCDC2d- group in early visual white matter bundles, including the optic radiations, and in ventral pathways located in the left inferior temporal cortex. Our results suggest that the DCDC2d+ group experiences higher vulnerability in visual motion processing even at early stages of visual analysis, which might represent a specific feature associated with the genotype and provide further neurobiological support to the visual-motion deficit account of dyslexia in a specific subpopulation.Assessing the potential ecological risks of chemical pollutants like heavy metals is a key tool of a sustainable environment. With this goal, ecotoxicological significant metal (Al, As, Cd, Cr, Cu, Fe, Hg, Ni, Pb, and Zn) levels of the water (n = 32) and sediment (n = 32) samples of streams [rural (8 points) and urban (8 points) sides] on Amanos Mountains were determined by inductively coupled plasma-optical emission spectrometry (ICP-OES) and ecotoxicological risk assessment was performed through the potential ecological risk index (RI). The study region with intense urban activities has also ecological importance with regards to wildlife. It is located on the migration route of birds, hosts loggerhead and green sea turtles, Mediterranean seals, and some terrestrial species like mountain gazelle and striped hyena. All calculated RI values were below the potential risk limits and the ecotoxicological risk was observed to be very low. Metal levels should be monitored periodically, and necessary measures should be taken before the reflection of the increase to be determined by the risk assessment on the ecosystem.