920 results match your criteria: "Fundacion Jimenez Diaz University Hospital[Affiliation]"

Objectives: To report the efficacy of onabotulinumtoxinA (BoNTA) injections in relieving pain in patients with primary trochlear headache (PRTH).

Methods: Examination of medical records for patients diagnosed with PRTH according to the International Classification of Headache Disorders, 3rd edition criteria and treated with BoNTA. Data were collected for variables related to pain relief, duration of effectiveness, and adverse effects.

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Article Synopsis
  • The COVID-19 pandemic has severely affected individuals with hematological malignancies due to their weakened immune systems, resulting in higher mortality rates and severe outcomes.
  • Data from the EPICOVIDEHA registry, which compiles COVID-19 cases from these patients worldwide, was collected from 2020 to 2022, including 8,767 cases from 152 centers across 41 countries.
  • Findings show a significant drop in critical infections and overall mortality rates, but hospitalization (especially in ICU) remains a serious risk factor; vaccination is linked to better survival outcomes, highlighting the need for ongoing monitoring and support for these patients.
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Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of haematological cancers with generally poor clinical outcomes. However, a subset of patients experience durable disease control, and little is known regarding long-term outcomes. The International T-cell Lymphoma Project (ITCLP) is the largest prospectively collected cohort of patients with PTCLs, providing insight into clinical outcomes at academic medical centres globally.

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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.

Am J Hum Genet

April 2024

Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. Electronic address:

Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual variation. However, they are still rather difficult to identify in mainstream sequencing projects, especially involving exome sequencing, because they often occur in DNA regions that are not targeted for analysis. To overcome this problem, we developed OFF-PEAK, a user-friendly CNV detection tool that builds on a denoising approach and the use of "off-target" DNA reads, which are usually discarded by sequencing pipelines.

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drexml: A command line tool and Python package for drug repurposing.

Comput Struct Biotechnol J

December 2024

Platform for Computational Medicine, Andalusian Public Foundation Progress and Health-FPS, Seville, Spain.

We introduce drexml, a command line tool and Python package for rational data-driven drug repurposing. The package employs machine learning and mechanistic signal transduction modeling to identify drug targets capable of regulating a particular disease. In addition, it employs explainability tools to contextualize potential drug targets within the functional landscape of the disease.

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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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, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype-phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families.

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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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Music Listening in Stem Cell Transplantation and Acute Myeloid Leukemia: A Randomized Clinical Trial.

J Pain Symptom Manage

June 2024

Department of Hematology (A.L.-G., E.U.S.M., L.S.-B., J.C.-N., J.L.L.-L., P.L.-S., J.M..A.-D.), Fundación Jiménez Díaz University Hospital, Madrid, Spain; Experimental Hematology (D.L.-G., P.L.-S., J.M.A.-D.), Fundación Jiménez Díaz Health Research Institute - Autonomous University of Madrid, Madrid, Spain.

Context: Music listening (ML) has been shown to have a beneficial effect on patients with cancer. However, novel intervention approaches are needed.

Objectives: We aimed to determine whether ML based on the iso-principle, conducted using a mobile application (GloMus), improves symptom burden, quality of life (QoL), anxiety, and depression in patients undergoing stem cell transplantation (SCT) and intensive induction chemotherapy for acute myeloid leukemia (AML).

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Purpose: During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using confocal laser scanning microscopy CLSM.

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Cellular therapies, including autologous stem cell transplant (ASCT), allogeneic hematopoietic cell transplantation (alloHCT), and chimeric antigen receptor- (CAR-) T cell therapies are essential treatment modalities for many hematological malignancies. Although their use in older adults has substantially increased within the past decades, cellular therapies represent intensive treatment approaches that exclude a large percentage of older adults due to comorbidities and frailty. Under- and overtreatment in older adults with hematologic malignancy is a challenge and many treatment decisions are influenced by chronologic age.

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Chromosomal breaks: another differential gap between early-onset and late-onset colorectal cancers.

Br J Surg

March 2024

Molecular Medicine Unit-Department of Medicine, Institute of Biomedical Research of Salamanca (IBSAL) and Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of Salamanca-SACYL-CSIC, Salamanca, Spain.

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Incipient functional SARS-CoV-2 diversification identified through neural network haplotype maps.

Proc Natl Acad Sci U S A

March 2024

Microbes in Health and Welfare Program, Centro de Biología Molecular "Severo Ochoa" (CSIC-UAM), Consejo Superior de Investigaciones Científicas, Madrid 28049, Spain.

Since its introduction in the human population, SARS-CoV-2 has evolved into multiple clades, but the events in its intrahost diversification are not well understood. Here, we compare three-dimensional (3D) self-organized neural haplotype maps (SOMs) of SARS-CoV-2 from thirty individual nasopharyngeal diagnostic samples obtained within a 19-day interval in Madrid (Spain), at the time of transition between clades 19 and 20. SOMs have been trained with the haplotype repertoire present in the mutant spectra of the nsp12- and spike (S)-coding regions.

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Multidisciplinary strategies have transformed the management of advanced ovarian cancer. We aimed to evaluate the effectiveness of paclitaxel in hyperthermic intraperitoneal chemotherapy (HIPEC) following surgical cytoreduction for ovarian peritoneal metastases in a randomized phase III trial conducted between August 2012 and December 2019. Seventy-six patients were randomized to either the HIPEC or no HIPEC group.

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Management of patients with rare adult solid cancers: objectives and evaluation of European reference networks (ERN) EURACAN.

Lancet Reg Health Eur

April 2024

European Patient Organisation for Rare Diseases (EURORDIS-Rare Diseases Europe), Brussels, Belgium.

About 500,000 patients with rare adult solid cancers (RASC) are diagnosed yearly in Europe. Delays and unequal quality of management impact negatively their survival. Since 2017, European reference networks (ERN) aim to improve the quality of care of patients with rare disease.

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