257 results match your criteria: "Research Institute-Fundacion Jimenez Diaz[Affiliation]"

Article Synopsis
  • This project aimed to investigate the standards of genetic testing and counseling for patients with inherited retinal diseases (IRDs) in select European countries, focusing on expert opinions about current challenges and potential improvements in patient care.
  • A survey was distributed to professionals across ten European nations, gathering data on the prevalence of genetic testing and counseling practices.
  • Results showed that while genetic tests are common and largely funded by public health services, many IRD patients still lack adequate testing and counseling, highlighting the need for better education for healthcare providers, improved access to advanced testing, and more genetic counselors.
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Correlation between low sleep satisfaction and death wish in a three-month Ecological Momentary Assessment study.

Span J Psychiatry Ment Health

June 2024

Health Research Institute Fundación Jiménez Díaz, Madrid, Spain; Department of Psychiatry, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; Centro de Investigación Biomédica en Red de Salud Mental, Madrid, Spain; Department of Psychiatry, Universidad Autónoma de Madrid, Madrid, Spain; Department of Psychiatry, Rey Juan Carlos University Hospital, Móstoles, Spain; Department of Psychiatry, General Hospital of Villalba, Madrid, Spain; Department of Psychiatry, Infanta Elena University Hospital, Valdemoro, Spain; Universidad Católica del Maule, Talca, Chile. Electronic address:

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The uncertainty concerning the physiological effects of compression bandaging on the peripheral blood flow is a challenge for healthcare professionals. The main objective was to determine the haemodynamic impact on the distal posterior tibial artery after the application of a high-compression leg multicomponent bandaging system using 4D flow magnetic resonance imaging. Leg dominance disparities of the posterior tibial artery before and after the application of the compressive bandage were also analysed.

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Tissue biopsy remains the standard for diagnosing gastrointestinal stromal tumors (GISTs), although liquid biopsy is emerging as a promising alternative in oncology. In this pilot study, we advocate for droplet digital PCR (ddPCR) to diagnose GIST in tissue samples and explore its potential for early diagnosis via liquid biopsy, focusing on the D842V mutation and hypermethylated gene. We utilized ddPCR to analyze the predominant mutation (D842V) in surgical tissue samples from 15 GIST patients, correlating with pathologists' diagnoses.

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We aim to characterize industry-funded trials that have posted the informed consent forms (ICFs), and to assess whether the role played by industry as 'sponsor' or 'collaborator' could impact several relevant variables. A cross-sectional study was conducted on ClinicalTrials.gov on all industry-funded trials registered on or before 25 February 2023.

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Purpose: We investigated the natural history of retinal dystrophy owing to variants in the MYO7A gene.

Methods: Fifty-three patients (mean age, 33.6 ± 16.

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Am J Hum Genet

July 2024

Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.

Article Synopsis
  • * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
  • * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
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Corrigendum: Assessment of mesenchymal stem/stromal cell-based therapy in K/BxN serum transfer-induced arthritis.

Front Immunol

May 2024

Division of Hematopoietic Innovative Therapies, Biomedical Innovation Unit, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain.

[This corrects the article DOI: 10.3389/fimmu.2022.

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HMGA1 is a structural epigenetic chromatin factor that has been associated with tumor progression and drug resistance. Here, we reported the prognostic/predictive value of HMGA1 for trabectedin in advanced soft-tissue sarcoma (STS) and the effect of inhibiting HMGA1 or the mTOR downstream pathway in trabectedin activity. The prognostic/predictive value of HMGA1 expression was assessed in a cohort of 301 STS patients at mRNA (n = 133) and protein level (n = 272), by HTG EdgeSeq transcriptomics and immunohistochemistry, respectively.

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Impaired high-density lipoprotein function and endothelial barrier stability in severe anaphylaxis.

J Allergy Clin Immunol

September 2024

Department of Allergy and Immunology, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Faculty of Medicine, Universidad Alfonso X el Sabio (UAX), Villanueva de la Cañada, Spain. Electronic address:

Background: Growing evidence demonstrates the importance of high- and low-density lipoprotein cholesterol in certain immune and allergy-mediated diseases.

Objective: This study aimed to evaluate levels of high- and low-density lipoprotein cholesterol and apolipoproteins A1 and B in sera from a cohort of patients presenting with hypersensitivity reactions. We further assessed the function of high-density lipoprotein particles as well as their involvement in the molecular mechanisms of anaphylaxis.

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Manual scoring of periodic limb movements in children: is it still necessary?

Sleep Med

July 2024

Department of Pediatrics, University Hospital Fundación Jiménez Díaz, Madrid, Spain; Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.

Objective: Although manual scoring has been classically considered the gold standard to identify periodic leg movements (PLM), it is a very time consuming and expensive process, also subject to variability in interpretation. In the last decades, different authors have observed reasonably good agreement between automated PSG scoring algorithms and manual scoring in adults, according to established criteria. We aim to compare the automatic software analysis of our polysomnogram with the manual staging in children with sleep-disordered breathing.

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The protection from COVID-19 vaccination wanes a few months post-administration of the primary vaccination series or booster doses. New COVID-19 vaccine candidates aiming to help control COVID-19 should show long-term efficacy, allowing a possible annual administration. Until correlates of protection are strongly associated with long-term protection, it has been suggested that any new COVID-19 vaccine candidate must demonstrate at least 75% efficacy (although a 40%-60% efficacy would be sufficient) at 12 months in preventing illness in all age groups within a large randomized controlled efficacy trial.

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Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Neurol Genet

April 2024

From the Spanish Network for Biomedical Research in Rare Diseases (CIBERER) (F.C., P.S.-L., A.B., Jorge Amigo, P.M., C.A., E.G.-A., N.M., T.J., A.N., J. Arenas, A.C., R.M., M.A.M., C.D.-G.); Mitochondrial and Neuromuscular Research Group '12 de Octubre' (P.S.-L., A.B., J. Arenas, M.A.M., C.D.-G.), Hospital Research Institute (imas12); Neurology Department (L.B.-G.), Neuromuscular Disorders Unit, Hospital 12 de Octubre; Genetics Department (J.F.Q.-E., M.A.M.), Hospital Universitario 12 de Octubre, Madrid; Fundación Pública Galega de Medicina Xenómica (FPGMX) (J. Amigo, A.C.); Genetic's Group (J. Amigo, A.C.), Santiago de Compostela Research Institute (IDIS); Medicine Xenómica's Group (J. Amigo, A.C.), Research Center for Molecular Medicine and Chronic Diseases (CIMUS), Santiago de Compostela University (USC); Department of Genetics and Genomics (P.M., C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital; Bioinformatics Unit (P.M.), Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid; Department of Clinical and Molecular Genetics (E.G.-A.), Valld'Hebron University Hospital; Research Group on Neuromuscular and Mitochondrial Disorders (E.G.-A., R.M.), Vall d'Hebron Research Institut (VHIR), Universitat Autónoma de Barcelona; Neuromuscular Unit (N.M.), Department of Neurology, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe; Department of Genetics (T.J.), Hospital Universitari I Politècnic la Fe de Valencia; Neuromuscular Unit (A.N.), Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona; Neurology Department (B.G.-R., C.P.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío; and Spanish Network for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (C.P.), Madrid, Spain.

Objectives: Thymidine kinase 2 deficiency (TK2d) is a rare autosomal recessive disorder that stems from a perturbation of the mitochondrial DNA maintenance. Nucleoside treatment has recently shown promise as a disease-modifying therapy. TK2d was initially associated with rapidly progressive fatal myopathy in children featuring mitochondrial DNA depletion.

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Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.

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Purpose: This exploratory analysis evaluated the tumor samples of the patients treated with doxorubicin (with or without olaratumab) in a negative phase III ANNOUNCE trial to better understand the complexity of advanced soft tissue sarcomas (STS) and to potentially identify its predictive markers.

Experimental Design: RNA sequencing was performed on pretreatment tumor samples (n = 273) from the ANNOUNCE trial to evaluate response patterns and identify potential predictive treatment markers for doxorubicin. A BOR-associated signature to doxorubicin (REDSARC) was created by evaluating tumors with radiographic response versus progression.

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Solitary fibrous tumor (SFT) is a rare, non-hereditary soft tissue sarcoma thought to originate from fibroblastic mesenchymal stem cells. The etiology of SFT is thought to be due to an environmental intrachromosomal gene fusion between NGFI-A-binding protein 2 (NAB2) and signal transducer and activator protein 6 (STAT6) genes on chromosome 12, wherein the activation domain of STAT6 is fused with the DNA-binding domain of NAB2 resulting in the oncogenesis of SFT. All NAB2-STAT6 fusion variations discovered in SFTs contain the C-terminal of STAT6 transcript, and thus can serve as target site for antisense oligonucleotides (ASOs)-based therapies.

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Primary aldosteronism (PA) is the most frequent cause of secondary hypertension and is associated with a higher cardiometabolic risk than essential hypertension. The aim of this consensus is to provide practical clinical recommendations for its surgical and medical treatment, pathology study and biochemical and clinical follow-up, as well as for the approach in special situations like advanced age, pregnancy and chronic kidney disease, from a multidisciplinary perspective, in a nominal group consensus approach of experts from the Spanish Society of Endocrinology and Nutrition (SEEN), Spanish Society of Cardiology (SEC), Spanish Society of Nephrology (SEN), Spanish Society of Internal Medicine (SEMI), Spanish Radiology Society (SERAM), Spanish Society of Vascular and Interventional Radiology (SERVEI), Spanish Society of Laboratory Medicine (SEQC(ML)), Spanish Society of Anatomic-Pathology and Spanish Association of Surgeons (AEC).

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Article Synopsis
  • Primary aldosteronism (PA) is a common cause of secondary hypertension that increases cardiometabolic risks compared to essential hypertension, but it is often underdiagnosed.
  • The consensus aims to provide practical guidelines for recognizing and diagnosing PA, along with understanding the health implications of excess aldosterone.
  • This effort involves collaboration among various Spanish medical societies, emphasizing a multidisciplinary approach to improve detection and management of PA.
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