919 results match your criteria: "Hospital Universitario La Paz. IdiPAZ[Affiliation]"

Expanding the Clinical Spectrum of -Associated Charcot-Marie-Tooth Disease.

Neurology

April 2024

From the Servicio de Neurología (R.S., J.I.T., T.S.) and Servicio de Neurofisiología (E.M.), Unidad de Enfermedades Neuromusculares, Hospital Universitari i Politècnic La Fe, Grupo de Investigación en enfermedades neuromusculares y ataxias, Instituto de Investigación Sanitaria La Fe, Valencia; CIBER de enfermedades raras (CIBERER) (R.S., C.D.-G., I.A., J.J.V., C.E., T.S.) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (A.L.P.-N., E.G.), Instituto de Salud Carlos III, Madrid; Servicio de Neurología (A.L.P.-N.), Hospital Universitario Marqués de Valdecilla (IDIVAL), Santander; Departamento de Neurología (I.J., M.I.P.L.), Hospital Universitario de Navarra, Instituto de Investigación Sanitaria de Navarra-IdiSNA, Pamplona; Servicio de Neurología (C.D.-G., L.B.-G.), Unidad de Enfermedades Neuromusculares, Hospital Universitario 12 de Octubre, Grupo de Investigación en Enfermedades mitocondriales y neuromusculares, Instituto de Investigación imas12; Servicio de Neurología (A.H.) and Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Servicio de Neurología (F.J.R.D.R.), Instituto de Investigación Sanitaria del Hospital Universitario La Paz - IDIPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid; Servicio de Radiodiagnóstico (E.G.), Hospital Universitario Marqués de Valdecilla, Santander; Grupo de Investigación en enfermedades neuromusculares y ataxias (I.A., J.J.V.), Instituto de Investigación Sanitaria La Fe, Valencia; Área de Neurología (M.C.), Health in code; Unidad de Genética Clínica (M.M.F.-C.), Servicio de Análisis Clínicos, Instituto de Medicina de Laboratorio, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos de Madrid-IdISSC; Lab of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia; Unidad de Medicina Genómica (M.A.-R.), Instituto de Investigación Sanitaria de Navarra-IdiSNA, Universidad Pública de Navarra (UPNA), Navarrabiomed, Hospital Universitario de Navarra (HUN), Pamplona; and Departamento de Medicina (T.S.), Universitat de Valencia, Spain.

Article Synopsis
  • Germline mutations in the DRP2 gene are linked to Charcot-Marie-Tooth disease (CMT), but the details of how these mutations cause the disease are still not fully understood.
  • A study involving 9 CMT patients across 6 centers in Spain found 4 different pathogenic variants, with men showing symptoms while heterozygous women remained asymptomatic.
  • The results indicate that the disease leads to late-onset sensory and motor neuropathy, characterized by lower limb weakness and nerve abnormalities including thickened nerves and fatty infiltration in muscles.
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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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Assessment of Sleep Quality in Spanish Twin Pregnancy: An Observational Single-Center Study.

Twin Res Hum Genet

April 2024

Department of Physiology, Faculty of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.

Women with twin pregnancies experience greater sleep disturbance compared to women with singleton pregnancies. The aims of this study were to explore the sleep quality in women with twin pregnancies and to compare their sleep dimensions with coetaneous single pregnancies. This was an observational study in which women were enrolled at the end of pregnancy in the Obstetric Service of Hospital La Paz (Spain).

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Background And Aims: We assessed long-term clinical outcomes and prognostic factors for liver disease progression after sustained viral response with direct-acting antivirals in patients coinfected with HIV/HCV with advanced fibrosis or cirrhosis.

Approach And Results: A total of 1300 patients who achieved sustained viral response with direct-acting antivirals from 2014 to 2017 in Spain were included: 1145 with compensated advanced chronic liver disease (384 advanced fibrosis and 761 compensated cirrhosis) and 155 with decompensated cirrhosis. The median follow-up was 40.

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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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Background: The usefulness of thiopurines has been poorly explored in pouchitis and other pouch disorders.

Objective: To evaluate the effectiveness and safety of azathioprine as maintenance therapy in inflammatory pouch disorders.

Design: This was a retrospective and multicentre study.

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Exploring candidate biomarkers for rheumatoid arthritis through cardiovascular and cardiometabolic serum proteome profiling.

Front Immunol

March 2024

Rheumatology Service, Department of Medical and Surgical Sciences, Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC), Reina Sofia University Hospital, University of Cordoba, Córdoba, Spain.

Introduction: RA patients are at higher risk of cardiovascular disease, influenced by therapies. Studying their cardiovascular and cardiometabolic proteome can unveil biomarkers and insights into related biological pathways.

Methods: This study included two cohorts of RA patients: newly diagnosed individuals (n=25) and those with established RA (disease duration >25 years, n=25).

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Article Synopsis
  • The study looked at how obstructive sleep apnoea (OSA) might be linked to lung cancer by checking blood samples from people with a high risk of lung cancer and those who already have it.
  • They found that people with moderate-to-severe OSA had higher levels of certain proteins in their blood that could help cancer cells grow and avoid being attacked by the immune system.
  • The results suggest that OSA could make lung cancer worse by affecting how the body fights against cancer.
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The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.

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Purpose: This study aimed to determine the best strategy to achieve fast and safe extubation.

Methods: This multicenter trial randomized patients with primary respiratory failure and low-to-intermediate risk for extubation failure with planned high-flow nasal cannula (HFNC) preventive therapy. It included four groups: (1) conservative screening with ratio of partial pressure of arterial oxygen (PaO) to fraction of inspired oxygen (FiO) ≥ 150 and positive end-expiratory pressure (PEEP) ≤ 8 cmHO plus conservative spontaneous breathing trial (SBT) with pressure support 5 cmHO + PEEP 0 cmHO); (2) screening with ratio of partial pressure of arterial oxygen (PaO) to fraction of inspired oxygen (FiO) ≥ 150 and PEEP ≤ 8 plus aggressive SBT with pressure support 8 + PEEP 5; (3) aggressive screening with PaO/FiO > 180 and PEEP 10 maintained until the SBT with pressure support 8 + PEEP 5; (4) screening with PaO/FiO > 180 and PEEP 10 maintained until the SBT with pressure support 5 + PEEP 0.

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Clinical practice guideline on the management of vestibular schwannoma.

Acta Otorrinolaringol Esp (Engl Ed)

August 2024

Servicio de Otorrinolaringología, Hospital Universitario La Paz, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

Article Synopsis
  • - Vestibular schwannoma (VS), the most common tumor in the cerebellopontine angle, often leads to challenging treatment decisions among observation, surgery, or radiotherapy based on patient-specific factors including age and symptoms.
  • - A comprehensive literature review was conducted to create a clinical guide addressing frequently asked questions by clinicians regarding VS, with input from a panel of experts from the SEORL-CCC.
  • - The resulting clinical practice guideline summarizes the 13 most debated topics related to VS management, presenting answers to 50 key questions, though it notes that the levels of evidence are mostly medium or low due to a lack of sufficient prospective studies.
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Article Synopsis
  • This study examines the role of circulating follicular helper T (cTfh) cells in Rheumatoid Arthritis (RA) and how treatment with abatacept (ABT) or TNF blockers (TNFb) affects their frequency.
  • Researchers analyzed blood samples from RA patients on different treatments, revealing that cTfh frequency is higher in RA patients but notably decreases with ABT treatment, while it stays the same with TNFb.
  • Findings suggest that a higher cTfh frequency at baseline indicates a positive response to ABT but a negative response to TNFb, highlighting distinct impacts of these treatments on immune cell dynamics in RA.
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Eptacog beta (activated), a recombinant human factor VIIa (rFVIIa), was approved by the US Food and Drug Administration (FDA) in 2020 (SEVENFACT®, LFB & HEMA Biologics) and the European Medicines Agency (EMA) in 2022 (CEVENFACTA®, LFB). In Europe, eptacog beta is indicated for the treatment of bleeds and the prevention of bleeds during surgery or invasive procedures in adults and adolescents (≥12 years old) with congenital haemophilia A or B with high-titre inhibitors (≥5 BU) or with low-titre inhibitors who are expected to have a high anamnestic response to factor VIII or factor IX, or to be refractory to increased dosing of these factors. The efficacy and safety of eptacog beta were evaluated in three Phase III clinical studies, PERSEPT 1, 2 and 3.

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Therapeutic drug monitoring in inflammatory bowel diseases. Position statement of the Spanish Working Group on Crohn's Disease and Ulcerative Colitis.

Gastroenterol Hepatol

May 2024

Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, España; Hospital General Universitario de Alicante, Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, España.

The treatment of inflammatory bowel disease has undergone a significant transformation following the introduction of biologic drugs. Thanks to these drugs, treatment goals have evolved from clinical response and remission to more ambitious objectives, such as endoscopic or radiologic remission. However, even though biologics are highly effective, a significant percentage of patients will not achieve an initial response or may lose it over time.

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Targeting cancer stem cell OXPHOS with tailored ruthenium complexes as a new anti-cancer strategy.

J Exp Clin Cancer Res

January 2024

Department of Biochemistry, Autónoma University of Madrid, School of Medicine and Department of Cancer, Instituto de Investigaciones Biomédicas (IIBm) Sols-Morreale (CSIC-UAM), Madrid, Spain.

Background: Previous studies by our group have shown that oxidative phosphorylation (OXPHOS) is the main pathway by which pancreatic cancer stem cells (CSCs) meet their energetic requirements; therefore, OXPHOS represents an Achille's heel of these highly tumorigenic cells. Unfortunately, therapies that target OXPHOS in CSCs are lacking.

Methods: The safety and anti-CSC activity of a ruthenium complex featuring bipyridine and terpyridine ligands and one coordination labile position (Ru1) were evaluated across primary pancreatic cancer cultures and in vivo, using 8 patient-derived xenografts (PDXs).

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Aim: Inhibition of microRNA (miR)-132 effectively prevents and reverses adverse cardiac remodelling, making it an attractive heart failure (HF) target. CDR132L, a synthetic antisense oligonucleotide selectively blocking pathologically elevated miR-132, demonstrated beneficial effects on left ventricular (LV) structure and function in relevant preclinical models, and was safe and well tolerated in a Phase 1b study in stable chronic HF patients. Patients with acute myocardial infarction (MI) and subsequent LV dysfunction and remodelling have limited therapeutic options, and may profit from early CDR132L treatment.

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Introduction: Major urban pollutants have a considerable influence on the natural history of lung disease. However, this effect is not well known in idiopathic pulmonary fibrosis (IPF).

Aim: This study aimed to investigate the effects of air pollution on clinical worsening, lung function, and radiological deterioration in patients with IPF.

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Objective: The aim of this retrospective multicentre study is to describe the clinical characteristics of patients diagnosed with severe eosinophilic asthma receiving anti-IL-5/anti-IL-5Rα therapies and to compare their effectiveness.

Methods: We collected and analysed results separately for anti-IL-5 and anti-IL-5Rα therapies from January 2016 until December 2021 in multidisciplinary severe asthma units. We collected demographic and clinical data, treatment with previous anti-IgE and/or anti-IL-5 agents, and comorbidities.

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