19 research outputs found

    Short-Course High-Intensity Statin Treatment during Admission for Myocardial Infarction and LDL-Cholesterol Reduction-Impact on Tailored Lipid-Lowering Therapy at Discharge

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    [EN] We hypothesized that a short-course high-intensity statin treatment during admission for myocardial infarction (MI) could rapidly reduce LDL-C and thus impact the choice of lipid-lowering therapy (LLT) at discharge. Our cohort comprised 133 MI patients (62.71 +/- 11.3 years, 82% male) treated with atorvastatin 80 mg o.d. during admission. Basal LDL-C levels before admission were analyzed. We compared lipid profile variables before and during admission, and LLT at discharge was registered. Achieved theoretical LDL-C levels were estimated using LDL-C during admission and basal LDL-C as references and compared to LDL-C on first blood sample 4-6 weeks after discharge. A significant reduction in cholesterol from basal levels was noted during admission, including total cholesterol, triglycerides, HDL-C, non-HDL-C, and LDL-C (-39.23 +/- 34.89 mg/dL, p < 0.001). LDL-C levels were reduced by 30% in days 1-2 and 40-45% in subsequent days (R-2 0.766, p < 0.001). Using LDL-C during admission as a reference, most patients (88.7%) would theoretically achieve an LDL-C < 55 mg/dL with discharge LLT. However, if basal LDL-C levels were considered as a reference, only a small proportion of patients (30.1%) would achieve this lipid target, aligned with the proportion of patients with LDL-C < 55 mg/dL 4-6 weeks after discharge (36.8%). We conclude that statin treatment during admission for MI can induce a significant reduction in LDL-C and LLT at discharge is usually prescribed using LDL-C during admission as the reference, which leads to insufficient LDL-C reduction after discharge. Basal LDL-C before admission should be considered as the reference value for tailored LLT prescription.This work was supported by grants from Instituto de Salud Carlos III , Fondos Europeos de Desarrollo Regional FEDER , and Fondo Social Europeo Plus (FSE + ) (grant numbers PI20/00637, PI23/01150, and CIBERCV16/11/00486, and CM21/00175 and JR23/00032 to V.M.-G.), Conselleria de EducaciĂłn Generalitat Valenciana (PROMETEO/2021/008) and GE 2023 grant by the Conselleria de InnovaciĂłn, Universidades, Ciencia y Sociedad Digital of the Generalitat Valenciana (CIGE/2022/26). J.G. acknowledges financial support from the Agencia Estatal de InvestigaciĂłn (grant FJC2020-043981-I).Marcos-Garces, V.; Merenciano-Gonzalez, H.; Martinez Mas, ML.; Palau, P.; Climent Alberola, JI.; PĂ©rez, N.; Lopez-Bueno, L.... (2024). Short-Course High-Intensity Statin Treatment during Admission for Myocardial Infarction and LDL-Cholesterol Reduction-Impact on Tailored Lipid-Lowering Therapy at Discharge. Journal of Clinical Medicine. 13(1). https://doi.org/10.3390/jcm1301012713

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

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    Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Råbago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Råbago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

    Abstracts from the Food Allergy and Anaphylaxis Meeting 2016

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    Sequence similarity of putative transposases links the maize Mutator

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    Acetato de medroxiprogesterona en la enfermedad fibroquistica de la mama en adolescentes

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    Establishing a molecular laboratory in COVID-19 pandemic: The experience of a regional laboratory in Spain

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    The high demand for COVID-19 diagnosis overwhelmed reference hospitals. Regional laboratories had to incorporate molecular technology to respond to the emergency. This work described the imple-mentation of molecular diagnostic tools and the detection of SARS-CoV-2, in a regional hospital with no previous experience, from October 2020 to March 2022. The laboratory structure was significantly modified. The staff grew from 3 to 4 clinical microbiologists, and from 7 to 17 laboratory technicians to provide 24/7 coverage. A total of 144,442 samples were processed during the period of study. The highest peaks were reached in July 2021 with 25,285 samples processed, and between December 2021 and January 2022, with 32,245. COVID-19 pandemic has represented not only the challenge, but the opportunity to introduce Nucleic Acid Amplification Techniques (NAAT) in inexperienced labora-tories. These secondary settings have shown an extraordinary ability to adapt and cannot be left behind in the progress of diagnostic techniques

    Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.

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    International audienceGenetic diagnosis of motile ciliopathies is conducted by healthcare, commercial and private laboratories. 88 genes have been implicated in motile ciliopathies (PCD, male infertility and associated disorders). Gene-disease relationships are uncertain where evidence is limited, risking inaccurate reporting and diagnosis. The ClinGen Motile Ciliopathy Gene Curation Expert Panel (GCEP) was set up collaboratively with BEAT-PCD ERS CRC in 2021. The GCEP comprises geneticists, pulmonologists and biocurators (Canada, France, Germany, Norway, Poland, Spain, Tunisia, UK, USA) tasked with classifying clinical validity of gene-disease relationships in motile ciliopathies to aid interpretation of genetic results. As an early step, the GCEP drew up guidelines to capturethe critical details of motile ciliopathy cases and to score genetic and experimental evidence conservatively and consistently. The GCEP meets monthly and so far has curated 33 gene-disease relationships (https://clinicalgenome.org/affiliation/40102/). 22 curations have reached a definitive classification as the role of the gene in disease has been repeatedly demonstrated and upheld over time, 4 were disputed.Classification PCD Infertility PCD InfertilityDefinitive CCDC39 CCDC40 CCDC103 CCNO CFAP43 DNAH1 DNAH17 CFAP300 DNAAF3 DNAH11 DNAH5 DNAI1 DNAI2 HYDIN MCIDAS ODAD1 ODAD2 ODAD4 RSPH1 RSPH4A SPAG1 ZMYND10Strong FOXJ1 DNAH8Limited CFAP57 DNAH1 DNAL1 GAS2L2 CFAP47These efforts provide a basis for future classifications of gene-disease relationships. The goal of the GCEP is to leverage emerging research to enhance the reliability of genetic testing for improved clinical detection and diagnosis of motile ciliopathies

    How do women living with HIV experience menopause? Menopausal symptoms, anxiety and depression according to reproductive age in a multicenter cohort

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    CatedresBackground: To estimate the prevalence and severity of menopausal symptoms and anxiety/depression and to assess the differences according to menopausal status among women living with HIV aged 45-60 years from the cohort of Spanish HIV/AIDS Research Network (CoRIS). Methods: Women were interviewed by phone between September 2017 and December 2018 to determine whether they had experienced menopausal symptoms and anxiety/depression. The Menopause Rating Scale was used to evaluate the prevalence and severity of symptoms related to menopause in three subscales: somatic, psychologic and urogenital; and the 4-item Patient Health Questionnaire was used for anxiety/depression. Logistic regression models were used to estimate odds ratios (ORs) of association between menopausal status, and other potential risk factors, the presence and severity of somatic, psychological and urogenital symptoms and of anxiety/depression. Results: Of 251 women included, 137 (54.6%) were post-, 70 (27.9%) peri- and 44 (17.5%) pre-menopausal, respectively. Median age of onset menopause was 48 years (IQR 45-50). The proportions of pre-, peri- and post-menopausal women who had experienced any menopausal symptoms were 45.5%, 60.0% and 66.4%, respectively. Both peri- and post-menopause were associated with a higher likelihood of having somatic symptoms (aOR 3.01; 95% CI 1.38-6.55 and 2.63; 1.44-4.81, respectively), while post-menopause increased the likelihood of having psychological (2.16; 1.13-4.14) and urogenital symptoms (2.54; 1.42-4.85). By other hand, post-menopausal women had a statistically significant five-fold increase in the likelihood of presenting severe urogenital symptoms than pre-menopausal women (4.90; 1.74-13.84). No significant differences by menopausal status were found for anxiety/depression. Joint/muscle problems, exhaustion and sleeping disorders were the most commonly reported symptoms among all women. Differences in the prevalences of vaginal dryness (p = 0.002), joint/muscle complaints (p = 0.032), and sweating/flush (p = 0.032) were found among the three groups. Conclusions: Women living with HIV experienced a wide variety of menopausal symptoms, some of them initiated before women had any menstrual irregularity. We found a higher likelihood of somatic symptoms in peri- and post-menopausal women, while a higher likelihood of psychological and urogenital symptoms was found in post-menopausal women. Most somatic symptoms were of low or moderate severity, probably due to the good clinical and immunological situation of these women

    Analysis of the genome sequence of the flowering plant Arabidopsis thaliana

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    The flowering plant Arabidopsis thaliana is an important model system for identifying genes and determining their functions. Here we report the analysis of the genomic sequence of Arabidopsis. The sequenced regions cover 115.4 megabases of the 125-megabase genome and extend into centromeric regions. The evolution of Arabidopsis involved a whole-genome duplication, followed by subsequent gene loss and extensive local gene duplications, giving rise to a dynamic genome enriched by lateral gene transfer from a cyanobacterial-like ancestor of the plastid. The genome contains 25,498 genes encoding proteins from 11,000 families, similar to the functional diversity of Drosophila and Caenorhabditis elegans - the other sequenced multicellular eukaryotes. Arabidopsis has many families of new proteins but also lacks several common protein families, indicating that the sets of common proteins have undergone differential expansion and contraction in the three multicellular eukaryotes. This is the first complete genome sequence of a plant and provides the foundations for more comprehensive comparison of conserved processes in all eukaryotes, identifying a wide range of plant-specific gene functions and establishing rapid systematic ways to identify genes for crop improvement
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