The allele ε4 of the apolipoprotein E gene (APOE ε4) is the major genetic risk factor for non-dominantly inherited Alzheimer’s Disease (AD). Current techniques for APOE ε4 carriers identification show good accuracy but have several disadvantages that limit its implementation in a clinical laboratory. These include the need for sample preprocessing, poor automation, low throughput, requirement of additional equipment, and high cost. We followed ISO 13485 guidelines to validate the e4Risk test, a new latex-enhanced immunoturbidimetric blood assay for apolipoprotein E4 (ApoE4) determination in human plasma samples. The test showed high performance in terms of lot to lot variability, precision, interferences, reagents stability, prozone, and detectability. Furthermore, diagnostic accuracy is almost equal (99%) to the gold standard, APOE ε4 genotyping by polymerase chain reaction (PCR). Furthermore, we demonstrated that the e4Risk test can be adapted to any clinical chemistry analyzer, including the high throughput analyzers present in most hospitals and clinical laboratories. The e4Risk test versatility, low cost, and easiness provides an excellent solution for APOE ε4 carriers identification using the same blood sample drawn for biochemical diagnostic work-up of AD patients, which can have important advantages for patient stratification in clinical trials, preventative strategies for AD, and clinical assessment of risk for brain amyloidosis.

In recent years, different studies have provided estimates of the prevalence of transsexualism with very diverse results. The purpose of this study was to ascertain the prevalence, incidence, and sex ratio of transsexualism in the autonomous region of Madrid (Spain). A total of 1234 patients who attended from 2007 to the end of 2015 in the only Gender Identity Unit (GIU) in Madrid were analyzed. Sixty-three patients were excluded for various reasons; thus, 1171 could be included: 803 male-to-female (MtF) and 368 female-to-male (FtM) transsexual patients. Transsexualism was diagnosed based on the ICD-10, World Health Organization, 1992, and/or gender identity disorder based on the DSM-IV-TR, American Psychiatric Association, 2000. The demographic statistics were calculated on the basis of the population over 15 years old of Madrid. Based on healthcare demand, the prevalence of transsexualism was 22.1 in 100,000 inhabitants: 31.2 for MtF and 12.9 for FtM, making the MtF/FtM ratio approximately 2.2:1. The incidence rate was 2.5 in 100,000 inhabitants, representing an annual average of 130 demands. Although transsexualism occurs in all countries with different rates of prevalence, in our area, this prevalence was higher than reported from other European countries. We believe that two main circumstances might influence this high prevalence: the easy accessibility and the absence of a waiting list to the GIU, and the permissive social and legal climate and openness of Spain, especially in Madrid.

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The efficacy and safety of using high concentrations of oxygen during hypothermic machine perfusion (HMP) have not been fully elucidated to date. This study investigated the impact of administering high concentrations of oxygen on renal function during HMP in a porcine donation after circulatory death (DCD), as well as the metabolic and biochemical effects of this method. A randomized nonblinded cohort study was established in a porcine transplant (KT) model mimicking Maastricht type III DCD under oxygen-supplemented HMP (Ox-HMP) compared to non-supplemented (nOx-HMP) (LifePort® kidney transporter) conditions. The primary endpoint was evolution of renal function post-KT, whereas secondary endpoints included changes in perfusion dynamics, miRNA expression and cellular lesion measured by LDH and lactate levels in perfusate, lipid peroxidation in kidney biopsies, ATP generation, epithelial mesenchymal transition (EMT) and oxidative gene expression in cell cultures and histology evaluation. ATP generation and oxidative stress, as measured by lipid peroxidation, increased simultaneously after warm ischemia in the Ox-HMP group. Ox-HMP did not exhibit a significant effect on kidney function or animal survival. A significant increase in lipid peroxidation was observed in the Ox-HMP group. This resulted in a greater expression of the genes responsible for producing superoxide dismutase 1 (SOD-1) and catalase oxygenation enzymes, although only SOD-1 showed statistical significance. Respiratory chain dysfunction was maintained in the Ox-HMP group with a non-significant decrease in ATP production, increased proton leakage, and a decrease in respiratory reserve. Regarding epithelial-mesenchymal transition, an upward trend in the expression of vimentin, fibronectin, and collagen genes was observed only in the Ox-HMP group. Finally, the expression levels of miR-101 and miR-126, related to characteristic functions of the tubular epithelium, were significantly modified (miRNA levels expressed as DCT. A brief bubble Ox-HMP treatment did not show a clear positive effect on renal function and oxidative stress markers. The role and safety of adding oxygen during HMP still need to be elucidated. Currently, this Ox-HMP method cannot be considered standard practice.