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

Parsaclisib is a potent and highly selective PI3Kδ inhibitor that has shown clinical benefit with monotherapy in a phase 2 study in relapsed or refractory (R/R) follicular lymphoma (FL). CITADEL-102 (NCT03039114), a phase 1, multicenter study, assessed the efficacy of parsaclisib in combination with obinutuzumab and bendamustine in patients with R/R FL. Patients were ≥18 years of age with histologically confirmed and documented CD20-positive FL, and R/R to previous rituximab-containing treatment regimens.

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Post-mortem findings in Spanish patients with COVID-19; a special focus on superinfections.

Front Med (Lausanne)

July 2023

Department of Infectious Diseases, Reina Sofía University Hospital, The Maimonides Biomedical Research Institute of Cordoba (IMIBIC), Córdoba University (UCO), Córdoba, Spain.

Article Synopsis
  • Whole-body autopsies of 70 COVID-19 patients were conducted to explore the disease's pathophysiology and the impact of superinfections.
  • The average age of the subjects was 70, with most having pre-existing health issues; 65.71% experienced infectious complications during their hospitalization, and invasive mechanical ventilation was common.
  • Key autopsy findings included severe lung damage, heart conditions, and liver issues, highlighting the significant roles of comorbidities and superinfections in COVID-19 pathology.
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The technical development of high-throughput sequencing technologies and the parallel development of targeted therapies in the last decade have enabled a transition from traditional medicine to personalized treatment and care. In this way, by using comprehensive genomic testing, more effective treatments with fewer side effects are provided to each patient-that is, precision or personalized medicine (PM). In several European countries-such as in England, France, Denmark, and Spain-the governments have adopted national strategies and taken "top-down" decisions to invest in national infrastructure for PM.

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A tale of pigs, beta-blockers and genetic variants.

Basic Res Cardiol

July 2023

Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), Madrid, Spain.

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Objective(s): To confirm that hilar transoral submandibular sialolitectomy (TOSL) is the first treatment option for submandibular hilar lithiasis (SHL) in terms of glandular parenchyma recovery, salivary system restoration, and patient quality of life (QoL) improvement.

Methods: Depending on whether the stone was easily palpable, TOSL was carried out with or without sialendoscopy. For the first time in the literature, Magnetic Resonance Sialography (MR-Si) was performed before and after TOSL, to evaluate stone characteristics, glandular parenchyma status, hilum dilation and main duct recanalization.

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Electroencephalography (EEG) has shown potential for identifying early-stage biomarkers of neurocognitive dysfunction associated with dementia due to Alzheimer's disease (AD). A large body of evidence shows that, compared to healthy controls (HC), AD is associated with power increases in lower EEG frequencies (delta and theta) and decreases in higher frequencies (alpha and beta), together with slowing of the peak alpha frequency. However, the pathophysiological processes underlying these changes remain unclear.

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Local Therapies for Metastatic Sarcoma: Why, When, and How?

Am Soc Clin Oncol Educ Book

June 2023

Mannheim University Medical Center, University of Heidelberg Germany, Mannheim, Germany.

Management of patients with advanced sarcoma has been evolving in recent decades, from a one-fit-all perspective to a more refined, personalized, and multidisciplinary approach. In parallel, the evolution of local therapies (radiotherapy, surgical and interventional radiology techniques) has contributed to the improvement of survival of patients with advanced sarcoma. In this article, we review the evidence regarding local treatments in advanced sarcoma, as well as its integration with systemic therapies, to provide the reader a wider and deeper perspective on the management of patients with metastatic sarcoma.

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Primary effusion lymphoma (PEL), Kaposi's sarcoma (KS), and multicentric Castleman's disease (MCD) is an uncommon group of diseases included in the same spectrum with related characteristics. The coexistence of all of them in the same individual is a rare occurrence. We present the case of a 25-year-old patient diagnosed with human immunodeficiency virus (HIV) and the development of all these related pathologies.

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Pseudomyxoma peritonei (PMP) is a rare malignant growth characterized by the production of mucin and the potential for peritoneal relapse. This study aimed to investigate the immunohistochemical and biological characteristics of mucin in patients with cellular and acellular PMP. We prospectively analyzed mucin specimens obtained from our patient cohort and described the composition and type of mucin present in each sample.

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Soft tissue sarcomas (STS) are an uncommon and biologically heterogeneous group of tumors arising from mesenchymal cells. The incidence is estimated at five cases per 100,000 people per year. Retroperitoneal sarcomas (RPS) account for 10-15% of all STS, and their management depends on their anatomical characteristics and histotype.

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Vasculitis is a group of diseases characterized by the inflammation of the blood vessel walls. They are classified according to the size of the main vessel involved: large vessel, medium vessel, and small vessel vasculitis. Ophthalmic manifestations are quite common in most of these diseases.

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Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Am J Ophthalmol

October 2023

From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.). Electronic address:

Purpose: To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients.

Design: Retrospective case series.

Methods: Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital dataset of 8000 patients.

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Ovarian cancer is the seventh most common cancer worldwide in women and the most lethal gynecologic malignancy due to the lack of accurate screening tools for early detection and late symptom onset. The absence of early-onset symptoms often delays diagnosis until the disease has progressed to advanced stages, frequently when there is peritoneal involvement. Although ovarian cancer is a heterogeneous malignancy with different histopathologic types, treatment for advanced tumors is usually based on chemotherapy and cytoreduction surgery.

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Management of non-hepatic distant metastases in neuroendocrine neoplasms.

Best Pract Res Clin Endocrinol Metab

September 2023

Department of Medical Oncology, Fundación Jiménez Díaz University Hospital, Madrid, Spain; Division of Cancer Sciences, University of Manchester, Manchester, United Kingdom; Department of Medical Oncology, The Christie NHS Foundation, University of Manchester, Manchester, United Kingdom. Electronic address:

Neuroendocrine neoplasms represent an uncommon disease with an increasing incidence. Thanks to improvements in diagnostic and therapeutic methods, metastases previously considered uncommon, such as bone metastases, or even very rare, such as brain, orbital and cardiac metastases, are more frequently found in daily practice. Due to the great heterogeneity of these neoplasms, there is a lack of high-quality evidence on the management of patients with these types of metastases.

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ESMO expert consensus statements (ECS) on the definition, diagnosis, and management of HER2-low breast cancer.

Ann Oncol

August 2023

Department of Oncology and Hemato-Oncology, University of Milan, Milan; European Institute of Oncology, IRCCS, Milan, Italy. Electronic address:

Article Synopsis
  • HER2-low breast cancer has gained attention as a treatable category due to successful clinical trials with anti-HER2 therapies, prompting the need for better treatment strategies.
  • A multidisciplinary panel of 32 experts from nine countries participated in a virtual consensus-building process by ESMO, focusing on areas lacking detailed guidelines related to HER2-low breast cancer.
  • The experts aimed to address the biology, diagnosis, clinical management, and trial design for HER2-low breast cancer, resulting in a set of consensus statements based on literature reviews and expert discussions.
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Background: Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (DRR) are present in about 25% of patients; however, only a few complex rearrangements have been described to date. Here, we performed nanopore-based whole-genome sequencing to assess the presence of cryptic structural variants (SVs) on the only two unsolved "PAX6-negative" cases from a cohort of 110 patients with congenital aniridia after unsuccessfully short-read sequencing approaches.

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This article summarises expert discussion on the management of patients with hepatocellular carcinoma (HCC), which took place during the 24th World Gastrointestinal Cancer Congress (WGICC) in Barcelona, July 2022. A multidisciplinary approach is mandatory to ensure an optimal diagnosis and staging of HCC, planning of curative and therapeutic options, including surgical, embolisation, ablative strategies, or systemic therapy. Furthermore, in many patients with HCC, underlying liver cirrhosis represents a challenge and influences the therapeutic options.

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Human intestinal spirochetosis (HIS) can cause gastrointestinal symptoms, although asymptomatic infections have been described. Individuals from low-income countries, people living with HIV, and men who have sex with men (MSM) show increased risk. A retrospective review of all patients diagnosed with HIS (n = 165) between January 2013 and October 2020 at a tertiary hospital in Madrid, Spain, was performed to assess risk factors for symptomatic HIS, symptoms, and response to treatment.

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Article Synopsis
  • * The ERS Congress 2022 included over 3000 abstract presentations, symposia, and skills workshops from all 14 assemblies, highlighting advancements in respiratory research.
  • * Key findings and insights from the Congress, particularly in airway diseases, asthma, COPD, and chronic cough, were reviewed by experts and Early Career Members to share recent developments in the field.
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