690 results match your criteria: ""Puerta de Hierro-Majadahonda" University Hospital[Affiliation]"

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

JCI Insight

March 2024

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.

Article Synopsis
  • * Experimental mouse models showed that pairing a TAM mutation (Stim1R304W) with a partial ORAI1 mutation (Orai1R93W) led to positive health outcomes, including improved bone structure, spleen health, muscle function, and increased platelet counts.
  • * The study suggests that targeting ORAI1 could offer a potential treatment strategy for TAM/STRMK, and identified myostatin as a potential biom
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Importance: Metabolic dysfunction-associated steatotic liver disease (MASLD) is currently the most common chronic liver disease worldwide. It is important to develop noninvasive tests to assess the disease severity and prognosis.

Objective: To study the prognostic implications of baseline levels and dynamic changes of the vibration-controlled transient elastography (VCTE)-based scores developed for the diagnosis of advanced fibrosis (Agile 3+) and cirrhosis (Agile 4) in patients with MASLD.

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haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.

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Background: The exact mechanisms underlying the pathogenesis of myocarditis are not always understood, but there is emerging evidence to suggest that genetic factors may play a significant role.

Case Summary: Herein, we present six cases in which clinical, biochemical, and cardiovascular magnetic resonance data were consistent with myocarditis, and genetic testing subsequently revealed pathogenic filamin C (FLNC) mutations. Three patients presented with ventricular arrhythmias, two with severe biventricular dysfunction, and two suffered sudden cardiac arrest.

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Background: Diffuse large B cell lymphoma (DLBCL) is the most common non-Hodgkin lymphoma worldwide. DLBCL is an aggressive disease that can be cured with upfront standard chemoimmunotherapy schedules. However, in approximately 35-40% of the patients DLBCL relapses, and therefore, especially in this setting, the search for new prognostic and predictive biomarkers is an urgent need.

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Purpose: In order to explore clinical pharmacology and therapeutics (CPT) teaching and practices across continental Europe, the European Association of Clinical Pharmacology and Therapeutics (EACPT) made a survey in 2022 amongst its 27 affiliated societies.

Methods: The survey was made available online to EACPT representatives, and 47 filled-in questionnaires were received from 25 countries (one to five per country), representing all geographic areas of Europe.

Results: Clinical pharmacologists (CPs) spend 25%, 30%, 15%, and 25% of their time in teaching, hospital activities, committees, and research, respectively, with large variations across and within countries.

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Introduction: Risk factors for developing pancreatitis due to thiopurines in patients with inflammatory bowel disease (IBD) are not clearly identified. Our aim was to evaluate the predictive pharmacogenetic risk of pancreatitis in IBD patients treated with thiopurines.

Methods: We conducted an observational pharmacogenetic study of acute pancreatitis events in a cohort study of IBD patients treated with thiopurines from the prospectively maintained ENEIDA registry biobank of GETECCU.

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Objectives: The aim of this study was to compare the outcomes of lung transplantations using grafts from donors aged over 70 years against those performed using younger donors.

Methods: This retrospective single-centre analysis includes lung transplants conducted at our institution from January 2014 to June 2022. Lung recipients were classified into 2 groups based on donor age (group A <70 years; group B ≥70 years).

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Background: Key and core components of effective infection prevention and control programmes (IPCPs) issued by the European Centre for Disease Prevention and Control (ECDC) and the World Health Organization (WHO) have been described. WHO core component 1 relates to the structure, organization and management of IPCPs.

Aim: The objective of this study was to assess the status and the time trends of some indicators of core component 1 of IPCPs in acute hospitals in Spain throughout the period 2012-2022.

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Background: Incomplete treatment of congestion often leads to worsening heart failure (HF). The remote dielectric sensing (ReDS) system is an electromagnetic energy-based technology that accurately quantifies changes in lung fluid concentration noninvasively.

Objectives: This study sought to assess whether an ReDS-guided strategy during acutely decompensated HF hospitalization is superior to routine care for improving outcomes at 1 month postdischarge.

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Aims: Hypertonic saline solution (HSS) plus intravenous (IV) loop diuretic appears to enhance the diuretic response in patients hospitalized for heart failure (HF). The efficacy and safety of this therapy in the ambulatory setting have not been evaluated. We aimed to describe the design and baseline characteristics of the SALT-HF trial participants.

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A 46-year-old woman presented for a routine echocardiogram, which revealed a giant atrial septal aneurysm (ASA) with an atrial septal defect (ASD). We surgically excised the ASA and closed the ASD with a pericardial patch. ASA, although rare, poses embolic risks, thus necessitating closure when associated with shunts.

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Hypothyroidism is common, however, aspects of its treatment remain controversial. Our survey aimed at documenting treatment choices of European thyroid specialists and exploring how patients' persistent symptoms, clinician demographics, and geo-economic factors relate to treatment choices. Seventeen thousand two hundred forty-seven thyroid specialists from 28 countries were invited to participate in an online questionnaire survey.

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What Is This Summary About?: This is a summary of the results of a study called PHAROS. This study looked at combination treatment with encorafenib (BRAFTOVI) and binimetinib (MEKTOVI). This combination of medicines was studied in people with metastatic non-small-cell lung cancer (NSCLC).

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Background: An accurate assessment of tumor viability after first-line treatment is critical for predicting treatment failure in peripheral T-cell lymphomas (PTCLs). F-fluorodeoxyglucose (F-FDG) positron emission tomography/computed tomography (PET/CT) has been adopted as the preferred assessment method in clinical trials, but its impact in clinical practice should be examined. This study aims to determine the prognostic significance ofF-FDG-PET/CT for survival following first-line treatment in PTCL patients.

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Joint ESPGHAN/NASPGHAN Guidelines on Childhood Eosinophilic Gastrointestinal Disorders Beyond Eosinophilic Esophagitis.

J Pediatr Gastroenterol Nutr

January 2024

Digestive Health Institute, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital Colorado, Gastrointestinal Eosinophilic Disease Program, Mucosal Inflammation Program, University of Colorado School of Medicine, Aurora, CO.

Introduction: Eosinophilic gastrointestinal disorders beyond eosinophilic esophagitis (non-EoE EGIDs) are rare chronic inflammatory disorders of the gastrointestinal (GI) tract. Diagnosis is based on clinical symptoms and histologic findings of eosinophilic inflammation after exclusion of a secondary cause or systemic disease. Currently, no guidelines exist for the evaluation of non-EoE EGIDs.

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Article Synopsis
  • Swallowed topical corticosteroids (tC) are commonly used to treat eosinophilic esophagitis (EoE), but their effectiveness varies due to different formulations and doses.
  • A study analyzed data from the EoE CONNECT registry, focusing on clinical and histological remission rates based on various tC treatments used in real-world settings.
  • Results showed that higher doses (≥0.8 mg/day) improved remission rates, budesonide orodispersible tablets were the most effective, and factors like reduced symptom severity influenced treatment outcomes.
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The intraoperative management of patients undergoing orthotopic liver transplantation (OLT) is influenced by the cardiovascular manifestations typically found in the context of end-stage liver disease, by the presence of concomitant cardiovascular disease, and by the significant hemodynamic changes that occur during surgery. Hypotension and intraoperative blood pressure fluctuations during OLT are associated with liver graft dysfunction, acute kidney failure, and increased risk of 30-d mortality. Patients also frequently present hemodynamic instability due to various causes, including cardiac arrest.

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Purpose: To describe a cohort with a high risk of recurrence who received bezlotoxumab during the first episode of Clostridioides difficile infection (CDI) and to compare this cohort with patients with similar characteristics who did not receive the monoclonal antibody.

Methods: A prospective and multicentre study of patients with a high risk of recurrence (expected recurrence rate>35%) who were treated with bezlotoxumab during their first episode of CDI was conducted. A propensity score-matched model 1:2 was used to compare both cohorts that were weighed according to basal characteristics (hospital-acquisition, creatinine value, and fidaxomicin as a CDI treatment).

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Efficacy and Safety of Acoramidis in Transthyretin Amyloid Cardiomyopathy.

N Engl J Med

January 2024

From the National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London (J.D.G., M.F.); the Medical University of South Carolina, Charleston, SC (D.P.J.); Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence (F.C.), and the Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, Pavia (L.O.) - both in Italy; the Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Centro de Investigacíon Biomédica en Red Enfermedades Cardiovaculares, and Centro Nacional de Investigaciones Cardiovasculares (P.G.-P.) - both in Madrid; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart, Amsterdam (P.G.-P.); the Victorian and Tasmanian Amyloidosis Service, Department of Haematology, Monash University Eastern Health Clinical School, Box Hill, VIC, Australia (S.G.); the Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (M.G.); the Department of Cardiovascular Medicine, Cleveland Clinic, Cleveland (M.H.); the Sylvester Comprehensive Cancer Center, University of Miami, Miami (J.H.), and the Amyloidosis Program, Department of Transplant, Mayo Clinic, Jacksonville (J.N.-N.) - both in Florida; the Cardiac Amyloidosis Program, Knight Cardiovascular Institute, Oregon Health and Science University, Portland (A.M.); the Cardiac Amyloidosis Program, Division of Cardiology, Columbia College of Physicians and Surgeons, New York (M.S.M.); the Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark (S.H.P.); Duke Clinical Research Institute (F.R., J.G., K.C., H.X.) and Duke University Medical Center (F.R.) - both in Durham, NC; the Pauley Heart Center, Virginia Commonwealth University, Richmond (K.B.S.); the Division of Cardiology, University of Pittsburgh Medical Center, Pittsburgh (P.S.); and Eidos Therapeutics affiliate of BridgeBio Pharma, San Francisco (X.C., T.L., U.S., J.C.F.).

Article Synopsis
  • - Transthyretin amyloid cardiomyopathy involves the buildup of misfolded proteins in the heart, and acoramidis is a medication designed to stabilize these proteins, showing over 90% effectiveness in laboratory tests.
  • - In a phase 3 trial, 632 patients were randomly assigned to receive either acoramidis or a placebo for 30 months, evaluating outcomes like death rates, hospitalizations, and specific health indicators.
  • - The results demonstrated that acoramidis significantly outperformed the placebo in multiple health measures, with a high win ratio favoring acoramidis, while the frequency of side effects was similar in both groups.
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Objective:  It is important to determine whether the use of different quality improvement tools in neonatal resuscitation is well-received by health care teams and improves coordination and perceived quality of the stabilization of the newborn at birth. This study aimed to explore the satisfaction of personnel involved in resuscitation for infants under 32 weeks of gestational age (<32 wGA) at birth with the use of an assistance toolkit: Random Real-time Safety Audits (RRSA) of neonatal stabilization stations, the use of pre-resuscitation checklists, and the implementation of briefings and debriefings.

Study Design:  A quasi-experimental, prospective, multicenter intervention study was conducted in five level III-A neonatal intensive care units in Madrid (Spain).

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Role of Radiotherapy and Hormone Therapy in Patients with Node-Positive Locally Advanced Prostate Cancer.

Arch Esp Urol

December 2023

Department of Radiation Oncology, GenesisCare Madrid Clinical Director, San Francisco de Asis and La Milagrosa Hospitals, National Chair of Research and Clinical Trials, GenesisCare, 28043 Madrid, Spain.

Background: New-generation imaging techniques and the increasing use of surgery in high-risk prostate cancer (PCa) allow us to detect many cases of nodal disease at initial diagnosis or after resection. The treatment of PCa with pathologic regional nodes has evolved from the exclusive use of systemic therapy to its combination with locoregional treatment. It can also represent a benefit in the overall survival.

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Article Synopsis
  • - Graft-versus-host disease (GVHD) significantly impacts patient health post-allogeneic hematopoietic stem-cell transplantation, prompting new drug approvals and clinical practice changes in its management over the last three years.
  • - The European Society for Blood and Marrow Transplantation (EBMT) convened a panel of 23 experts to update clinical recommendations using the GRADE process and PICO questions to ensure standardized treatment approaches.
  • - Key updates include making ruxolitinib the standard care for steroid-refractory GVHD, using rabbit anti-T-cell globulin or post-transplantation cyclophosphamide for GVHD prevention, and adding belumosudil for treating steroid-refractory chronic GVHD.
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Background: The use of urinary sodium to guide diuretics in acute heart failure is recommended by experts and the most recent European Society of Cardiology guidelines. However, there are limited data to support this recommendation. The ENACT-HF study (Efficacy of a Standardized Diuretic Protocol in Acute Heart Failure) investigated the feasibility and efficacy of a standardized natriuresis-guided diuretic protocol in patients with acute heart failure and signs of volume overload.

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Article Synopsis
  • The study aims to evaluate the prognostic impact of isolated tumor cells in sentinel lymph nodes (SLNs) of low-risk endometrial cancer patients who did not receive additional therapy.
  • A total of 494 patients were analyzed, finding that recurrence rates were higher in those with SLN-isolated tumor cells, with significant differences in recurrence-free survival between this group and node-negative patients.
  • Although isolated tumor cells were associated with poorer recurrence-free outcomes, no significant differences in overall survival between the two groups were observed.
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