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1.
Curr Opin Organ Transplant ; 28(2): 149-155, 2023 04 01.
Article in English | MEDLINE | ID: mdl-36752277

ABSTRACT

PURPOSE OF REVIEW: Obesity has reached epidemic proportions in the United States. It is a risk factor for developing, among others, heart disease, stroke, type 2 diabetes, and chronic kidney disease (CKD), and thus a major public health concern and driver of healthcare costs. Although the prevalence of obesity in the CKD/end-stage kidney disease population is increasing, many obese patients are excluded from the benefit of kidney transplant based on their BMI alone. For this reason, we sought to review the experience thus far with kidney transplantation in obese patients and associated outcomes. RECENT FINDINGS: Obesity is associated with a lower rate of referral and waitlisting, and lower likelihood of kidney transplantation. Despite increased risk for early surgical complications and delayed graft function, experience from multiple centers demonstrate a clear survival benefit of transplantation over dialysis in most obese patients, and comparable graft and patient survival rates to nonobese recipients. SUMMARY: Data suggest that long-term transplant outcomes among obese recipients are similar to those among nonobese. Strategies to achieve pretransplant weight reduction and minimally invasive surgical techniques may further improve results of kidney transplantation in obese recipients.


Subject(s)
Diabetes Mellitus, Type 2 , Kidney Failure, Chronic , Kidney Transplantation , Renal Insufficiency, Chronic , Humans , Kidney Transplantation/adverse effects , Graft Survival , Treatment Outcome , Graft Rejection/etiology , Obesity/complications , Obesity/epidemiology , Obesity/surgery , Kidney Failure, Chronic/epidemiology , Kidney Failure, Chronic/surgery , Renal Insufficiency, Chronic/diagnosis , Renal Insufficiency, Chronic/epidemiology , Renal Insufficiency, Chronic/surgery , Body Mass Index
3.
J Forensic Sci ; 60(4): 990-1000, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25782558

ABSTRACT

Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are utilized for this predictor, five for eye, and six for skin coloration. Here, we describe the development and validation of an 8-SNP multiplex assay that consists of a multiplex PCR, followed by a multiplexed single-base primer extension reaction generating fluorescently labeled oligonucleotides of distinct length that are detected by multicolor capillary electrophoresis. Validation of this assay included tests for reproducibility, reliability, sensitivity, species specificity, its performance on degraded DNA, and on forensic samples. It can be concluded that the 8-SNP multiplex assay is robust and can be used on challenging samples, including bones, to reliably determine the genotypes to predict eye and skin color of individuals. This information can assist in the identification of human remains and missing persons.


Subject(s)
Eye Color/genetics , Multiplex Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Skin Pigmentation/genetics , Animals , DNA Degradation, Necrotic , Electrophoresis, Capillary , Fluorescence , Forensic Genetics , Humans , Oligonucleotides/chemistry , Reproducibility of Results , Species Specificity
4.
Croat Med J ; 54(3): 248-56, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23771755

ABSTRACT

AIM: To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions. METHODS: Analysis of an eighth single nucleotide polymorphism (SNP), rs12896399 (SLC24A4), showed a statistically significant association with human eye color (P=0.007) but a rather poor strength of agreement (κ=0.063). This SNP was added to the 7-plex system (rs12913832 at HERC2, rs1545397 at OCA2, rs16891982 at SLC45A2, rs1426654 at SLC24A5, rs885479 at MC1R, rs6119471 at ASIP, and rs12203592 at IRF4). Further, the instruction guidelines on the interpretation of genotypes were changed to create a new 8-plex system. This was based on the analysis of an 803-sample training set of various populations. The newly developed 8-plex system can predict the eye colors brown, green, and blue, and skin colors light, not dark, and not light. It is superior to the 7-plex system with its additional ability to predict blue eye and light skin color. RESULTS: The 8-plex system was tested on an additional 212 samples, the test set. Analysis showed that the number of positive descriptions for eye colors as being brown, green, or blue increased significantly (P=6.98e-15, z-score: -7.786). The error rate for eye-color prediction was low, at approximately 5%, while the skin color prediction showed no error in the test set (1% in training set). CONCLUSIONS: We can conclude that the new 8-plex system for the prediction of eye and skin color substantially enhances its former version.


Subject(s)
Eye Color/genetics , Polymorphism, Single Nucleotide , Skin Pigmentation/genetics , White People/genetics , Agouti Signaling Protein/genetics , Antigens, Neoplasm/genetics , Antiporters/genetics , Genotype , Guanine Nucleotide Exchange Factors/genetics , Humans , Interferon Regulatory Factors/genetics , Membrane Transport Proteins/genetics , Receptor, Melanocortin, Type 1/genetics , Ubiquitin-Protein Ligases
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