High-Sensitivity Troponin T and Copeptin in Non-ST Acute Coronary Syndromes: Implications for Prognosis and Role of hsTnT and Copeptin in Non-STEACS

High-sensitivity TnT (hsTnT) has been proposed to improve the diagnosis and stratification in acute coronary syndromes. Copeptin has been proposed for a rapid and accurate rule out of acute myocardial infarction, but some doubts exist about its use out of the first hours from admission. Abnormalities of serum hsTnT and copeptin levels in non-STEACS and negative TnT, could have prognostic implications. Methods. We included 122 non-STEACS patients without raised TnT, 33 disease controls and 43 healthy controls. We measured hsTnT and copeptin levels. Clinical follow-up at 12 months was performed for adverse endpoints. Results. Non-STEACS patients had raised hsTnT compared with both control groups (P = 0.036 and P < 0.001). Copeptin levels were higher in non-STEACS patients than healthy controls (P = 0.021), without differences with disease controls. Raised levels of hs-TnT presented prognostic implications [HR 3.29 (95%CI: 1.33–7.49), P = 0.010]. hs-TnT could be used for invasive approach decision, as it shows prognostic relevance in conservative approach-patients whereas remains unrelevant for catheterized-patients. Copeptin levels were not associated with adverse events. Conclusion. hsTnT levels increased in non-STEACS, were predictive of adverse events and could be important for recommending an invasive management. We cannot confirm a predictive role of copeptin out of the first hours from admission

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. Here, we aimed to establish its founder effect and characterize the associated clinical phenotype. Results Haplotype analysis confirmed that families shared a common haplotype (32/38 markers) spanning 0.61-0.82 Mb, indicating this recurrent variant was inherited from a founder ancestor. Cutaneous and uterine leiomyomatosis were diagnosed in 64.6% (64/99) and 98% (50/51) of patients, respectively, and renal cell cancer was present in 10.4% (10/96). The pathogenic FH_c.1118A > G variant is a Spanish founder mutation that originated 12-26 generations ago. We estimate that the variant may have appeared between 1370 and 1720. Individuals carrying this founder mutation had similar frequency of renal cell cancer and a higher frequency of renal cysts and leiomyomas than those in other cohorts of this syndrome. Conclusions In the Spanish province of Alicante there is a high prevalence of HLRCC because of the founder mutation FH c.1118A > G; p.(Asn373Ser). The characterization of founder mutations provides accurate and specific information regarding their penetrance and expressivity. In individuals with suspected HLRCC from the province of Alicante, genetic testing by direct analysis of the founder FH c.1118A > G; p.(Asn373Ser) mutation may be a faster and more efficient diagnostic tool compared with complete gene sequencing

Awareness of Diagnosis in Persons with Early-Stage Alzheimer's Disease : An Observational Study in Spain

Limited information is available on people's experiences of living with Alzheimer's disease (AD) at earlier stages. This study assessed awareness of diagnosis among people with early-stage AD and its impact on different person-centered outcome measures. We conducted an observational, cross-sectional study in 21 memory clinics in Spain. Persons aged 50-90 years, diagnosed with prodromal or mild AD (NIA/AA criteria), a Mini Mental State Examination (MMSE) score ≥ 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5 or 1.0 were recruited. The Representations and Adjustment to Dementia Index (RADIX) was used to assess participants' beliefs about their condition and its consequences. A total of 149 persons with early-stage AD were studied. Mean (SD) age was 72.3 (7.0) years and 50.3% were female. Mean duration of AD was 1.4 (1.8) years. Mean MMSE score was 24.6 (2.1) and 87.2% had a CDR-GS score of 0.5. Most participants (n = 84, 57.5%) used a descriptive term related to specific AD symptoms (e.g., memory difficulties) when asked what they called their condition. Participants aware of their diagnosis using the term AD (n = 66, 45.2%) were younger, had more depressive symptoms, and poorer life satisfaction and quality of life compared to those without awareness of their specific diagnosis. Practical and emotional consequences RADIX scores showed a significant negative correlation with Quality of Life in Alzheimer's Disease score (rho = − 0.389 and − 0.413, respectively; p < 0.0001). Years of education was the only predictor of awareness of AD diagnosis [OR = 1.04 (95% CI 1.00-1.08); p = 0.029]. Awareness of diagnosis was a common phenomenon in persons with early-stage AD negatively impacting their quality of life. Understanding illness representations in earlier stages may facilitate implementing optimized care that supports improved quality of life and well-being

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants. The frequency of RCCs (10.9%) was lower than those reported in the previously published series. Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys

Mejora de la competitividad del sector de la dorada (Sparus aurata) a través de la selección genética. PNA PROGENSA-III

Trabajo presentado en el XVI Congreso Nacional de Acuicultura, celebrado en Zaragoza (España), del 3 al 5 de octubre de 2017[EN] This project promotes technology developments for gilthead sea bream industrial sector of Spain, to facilitate and normalize the implementation of genetic selection schemes in this species, by defining new technological traits of commercial interest, with new standardized and extensible technological developments that permit, in an economical manner, normalized measuring methods, to study genetic parameters (growth,morphology, carcass and resistance disease), genotype-environment interaction to extend the Spanish production, and guarantee the production levels to the whole production chain. At the same time, improving the breeders management under industrial conditions, the validation of feeding efficiency during the selection processes and location of biomarkers linked and applied in genomic selection.[ES] Con la presente propuesta se pretende desarrollar metodología transferible al sector industrial de dorada en España que facilite y normalice la implementación de esquemas de selección genética en esta especie, mediante la definición de caracteres de interés comercial con nuevos desarrollos tecnológicos que estandaricen y hagan extensible a todo el sector, de manera económica, la medición de caracteres a escala industrial, el estudio de parámetros genéticos para caracteres de interés comercial (crecimiento, morfología, rendimiento y resistencia a enfermedades) en stocks de reproductores de la industria española, la estimación de la interacción genotipo-ambiente para permitir de manera garante la expansión de los rendimientos productivos de la industria Española, la gestión de reproductores bajo los propios condicionantes de la industria, así como la validación de la eficiencia alimenticia de los procesos de selección y búsqueda de biomarcadores asociados y aplicables en los modelos de selección.Este trabajo ha sido financiado a través de las Ayudas a la investigación de los Planes Nacionales de Acuicultura 2016 por el Ministerio de Agricultura y Pesca, Alimentación y Medioambiente (MAPAMA) y el Fondo Europeo Marítimo y de Pesca (FEMP).Peer reviewe

Medical help-seeking intentions among patients with early Alzheimer’s disease

BackgroundLimited information is available on the active process of seeking medical help in patients with Alzheimer’s disease (AD) at early stages. The aim of this study was to assess the phenomenon of medical help-seeking in early AD and to identify associated factors.MethodsA multicenter, non-interventional study was conducted including patients of 50–90 years of age with prodromal or mild AD (National Institute on Aging/Alzheimer’s Association criteria), a Mini-Mental State Examination (MMSE) score ≥ 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5–1.0. A multivariate logistic regression analysis was conducted.ResultsA total of 149 patients were included. Mean age (SD) was 72.3 (7.0) years, 50.3% were female, and 87.2% had a CDR-GS score of 0.5. Mean disease duration was 1.4 (1.8) years. Ninety-four (63.1%) patients sought medical help, mostly from neurologists. Patients with help-seeking intentions were mostly female (60.6%) with a CDR-GS score of 0.5 (91.5%) and had a greater awareness of diagnosis, poorer quality of life, more depressive symptoms, and a more severe perception of their condition than their counterparts. Lack of help-seeking intentions was associated with male sex (p = 0.003), fewer years of education (p = 0.005), a low awareness of diagnosis (p = 0.005), and a low emotional consequence of the condition (p = 0.016).ConclusionUnderstanding the phenomenon of active medical help-seeking may facilitate the design of specific strategies to improve the detection of cognitive impairment, especially in patients with a lower level of educational attainment and poor awareness of their condition

Validación de un protoclo clínico para la detección de demencia en el ámbito poblacional

Validación de un protocolo clínico para la detección de demencia en ámbito poblacionalTo analyse the validity of a set of neuropsychological and functional tests, and to study their value in detectingand diagnosing dementia through a pilot study. Patients and methods. A total of 131 subjects (101 controls and 30 withdementia) were evaluated using a comprehensive neuropsychological and functional battery. Validity analyses were conducted using ROC curves in accordance with the definitions of diagnostic test validation. Finally, a discriminant analysis wasperformed with the tests that showed greater diagnostic validity in the study of the ROC curves. Results. The case and control groups were not significantly different as regards age, sex and level of schooling. The ROC curves analyses showed the following to be the tests with the highest diagnostic validity: the MMSE, delayed recall of a short story, delayed recall of six pictures, the Spanish version of the S-IQCODE (shortened) and Pfeffer s FAQ. The discriminant analysis evidenced the fact that the joint utilisation of all the foregoing tests, except delayed recall of six pictures, classified 96.55% of our sample correctly. Conclusions. By combining direct cognitive evaluation of the subject and functional performance evaluated by a trustworthy informer, the vast majority of participants in the pilot study were correctly classified into patients with and without dementia. The high diagnostic validity of four relatively short tests lends support to their use in broader clinical or population studie