Outcome of Laparoscopic Live Donor Nephrectomy and Impact of Double Renal Arteries: Results From Two Transplant Centres

ObjectiveLive donor kidney transplantation is consistently superior to deceased donor kidney transplantation. Laparoscopic donor nephrectomy (LDN) is increasingly accepted as a safe and preferred surgical option. To evaluate the outcome of LDN and the impact of multiple arteries, a retrospective review was conducted on patients in two transplant centres.MethodsFifty patients including eight with double vessels were studied. Standard left transperitoneal LDN was performed. Grafts including those with double vessels were prepared using the bench technique. Postoperative outcomes (up to 1 year) for donors and recipients were studied. The outcomes of recipients of a single or double vessel graft were compared.ResultsAll donors had an eventful recovery. No difference was found between the single and multiple vessels groups for operating time (168.21 ± 5.712 minutes vs. 197.50 ± 15.755 minutes) or hospital stay (3.21±0.165 days vs. 4.13±0.789 days). The recipient outcomes including hospital stay (10.17±0.596 days vs. 12.13 ± 1.797 days) and creatinine levels at day 7 (106.53 ± 5.583 μmol/L vs. 107.13 ± 11.857 μmol/L) and 1 year (120.21 ± 6.562 μmol/L vs. 124.75 ± 11.857 μmol/L) were similar. No ureteric stricture or graft loss was noted at 1-year follow-up. Recipient complications included lymphocoele (n = 2), haematoma (n = 3 with 2 requiring exploration), sepsis (n = 1), renal artery stenosis (n = 2 with 1 stented), repeated anastomosis (n = 1), and incisional hernia (n = 1). No differences were noted between the two groups.ConclusionOur results showed that overall donor morbidity rate was low, as reflected by the short hospital stay. Also, the overall parameters of the recipients were good. In particular, no ureteric stricture was noted, and graft survival was 100% at 1 year. The outcomes of the reconstructed group, despite the technical challenge, were similar to those of the single-vessel group

Attitudes and Opinions About Direct-to-Consumer Genetic Testing in Undergraduate Science Students

Background: There has been exponential growth in the number of direct-to-consumer genetic testing kits sold in the past decade. Consumers utilize direct-to-consumer genetic tests for a number of reasons which include learning about one’s ancestry and potential ways to manage health. Emerging adults tend to be early adopters of new technologies; however, there has been little research regarding the opinions about direct-to-consumer genetic testing in emerging adults. Methods: Data came from a study conducted in an upper-level biology course focusing on understanding undergraduate science students’ overall experiences with receiving personalized genetic testing results from 23andMe. The present study used data collected at the baseline assessment which assessed their opinions and attitudes about direct-to-consumer genetic testing (N=133). Results: Over 80% of participants would recommend direct-to-consumer genetic testing options including carrier status reports, DNA ancestry reports, wellness reports, and trait reports to others. However, participants were not as confident that others would be able to accurately interpret their test results. Additionally, more than two-thirds of the participants stated that they would ask a healthcare provider to help interpret their personalized genetic test results. Conclusions: Participants lack confidence in both their ability to interpret their own results and others to interpret their results. It is important for direct-to-consumer genetic testing companies to educate consumers before providing results in order to minimize potential harms due to misinterpretation of results. Further research is needed to assess motivations to participate in direct-to-consumer genetic testing, impact of testing, and understanding of genetic testing results in emerging adults.https://scholarscompass.vcu.edu/gradposters/1124/thumbnail.jp

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development

A novel Alzheimer disease locus located near the gene encoding tau protein

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this recordAPOE ε4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ε4+ (10 352 cases and 9207 controls) and APOE ε4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ε4 status. Suggestive associations (P<1 × 10-4) in stage 1 were evaluated in an independent sample (stage 2) containing 4203 subjects (APOE ε4+: 1250 cases and 536 controls; APOE ε4-: 718 cases and 1699 controls). Among APOE ε4- subjects, novel genome-wide significant (GWS) association was observed with 17 SNPs (all between KANSL1 and LRRC37A on chromosome 17 near MAPT) in a meta-analysis of the stage 1 and stage 2 data sets (best SNP, rs2732703, P=5·8 × 10-9). Conditional analysis revealed that rs2732703 accounted for association signals in the entire 100-kilobase region that includes MAPT. Except for previously identified AD loci showing stronger association in APOE ε4+ subjects (CR1 and CLU) or APOE ε4- subjects (MS4A6A/MS4A4A/MS4A6E), no other SNPs were significantly associated with AD in a specific APOE genotype subgroup. In addition, the finding in the stage 1 sample that AD risk is significantly influenced by the interaction of APOE with rs1595014 in TMEM106B (P=1·6 × 10-7) is noteworthy, because TMEM106B variants have previously been associated with risk of frontotemporal dementia. Expression quantitative trait locus analysis revealed that rs113986870, one of the GWS SNPs near rs2732703, is significantly associated with four KANSL1 probes that target transcription of the first translated exon and an untranslated exon in hippocampus (P≤1.3 × 10-8), frontal cortex (P≤1.3 × 10-9) and temporal cortex (P≤1.2 × 10-11). Rs113986870 is also strongly associated with a MAPT probe that targets transcription of alternatively spliced exon 3 in frontal cortex (P=9.2 × 10-6) and temporal cortex (P=2.6 × 10-6). Our APOE-stratified GWAS is the first to show GWS association for AD with SNPs in the chromosome 17q21.31 region. Replication of this finding in independent samples is needed to verify that SNPs in this region have significantly stronger effects on AD risk in persons lacking APOE ε4 compared with persons carrying this allele, and if this is found to hold, further examination of this region and studies aimed at deciphering the mechanism(s) are warranted

Non-invasive evaluation of lower urinary tract symptoms (LUTS) in men

Lower urinary tract symptoms (LUTS) are common in males over the age of 40 years old and are likely to increase with an aging population. Currently urodynamic studies are the gold standard to determine the aetiology of voiding dysfunction and LUTS. However, due to its invasive nature, a great number of non-invasive ultrasound based investigations have been developed to assess patients with symptomatic LUTS. The clinical application of non-invasive tests could potentially stratify patients who would require more invasive investigations and allow more precise patient directed treatment. A PubMed literature review was performed and we will discuss the non-invasive investigations that have been developed thus far, focusing on bladder wall and detrusor wall thickness (BWT & DWT), ultrasound estimated bladder weight (UEBW) and intravesical prostatic protrusion (IPP)