224 results match your criteria: "Hospital La Paz-IdiPaz[Affiliation]"

: Surgical accuracy in total knee replacement (TKR) may vary with the surgeon, the patient preoperative deformity, and the guiding system to perform the procedure. Navigation systems attempt to increase the intraoperative information the surgeon requires to make the appropriate decisions, sometimes associating cumbersome procedures and unclear effectiveness to place the implant more precisely than conventional instruments. : We conducted a retrospective case-control study with prospective data collection of radiographic measurements (alignment, joint line and patellar height) in a sample of 100 consecutive patients receiving TKR Optetrak Logic PS, either with standard surgical technique with Trulion Instrumentation ( = 59) or with the Guided Personalized Surgery (GPS) system ( = 41).

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Ischaemic heart disease (IHD) remains a major cause of death and morbidity. Klotho is a well-known anti-ageing factor with relevant cardioprotective actions, at least when renal dysfunction is present, but its actions are much less known when renal function is preserved. This study investigated Klotho as a biomarker and potential novel treatment of IHD-associated complications after myocardial infarction (MI) under preserved renal function.

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Comorbidities Associated With Different Degrees of Severity in Children and Young People Hospitalized With Acute COVID-19.

Pediatr Infect Dis J

January 2025

From the Innovation and Global Pediatric Infectious Disease, Biomedical Research Foundation of the University Hospital 12 de Octubre (FIBH12O), Instituto de Investigación Hospital 12 de Octubre (imas12), Madrid, Spain.

In this prospective cohort study with 2326 hospitalized children and young people with coronavirus disease 2019 in Spain and Colombia, 36.4% had comorbidities. Asthma, recurrent wheezing, chronic neurological, cardiac and pulmonary diseases significantly increased the risk of severe outcomes such as death, mechanical ventilation and intensive care unit admission.

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X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Interleukin-6 as a prognostic marker in acute kidney injury and its klotho-dependent regulation.

Nefrologia (Engl Ed)

December 2024

Laboratorio Traslacional Cardiorrenal, Instituto de Investigación Imas12, Hospital Universitario 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares CIBER-CV, Hospital Universitario 12 de Octubre, Madrid, Spain; Departamento de Fisiología, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain. Electronic address:

Background And Objective: In acute kidney injury (AKI), a strong inflammatory component is activated in response to the renal damage, and one of the main mediators behind this process is the pro-inflammatory interleukin 6 or IL-6. Beside to this phenomenon, there are also alterations in different components of mineral metabolism, such as those dependent on fibroblast growth factor (FGF)23 and the anti-ageing cofactor klotho. The aim of this work was to explore the association between renal function and systemic levels of IL-6, as well as FGF23 and klotho in the early stages of AKI, analysing the predictive capacity of IL-6 in early mortality associated with AKI.

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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.

Front Genet

November 2024

Department of Pharmacology and Physiology, Unit of Clinical Genetics and Functional Genomics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.

Article Synopsis
  • - Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that impacts physical development and cognitive abilities, primarily caused by mutations in genes linked to the cohesin complex, though many cases remain undiagnosed.
  • - The study presents a family case where multiple members have an intragenic duplication in the AFF2 gene, identified using advanced genomic technologies like high-resolution array Comparative Genomic Hybridization and next-generation sequencing.
  • - The research shows a clear correlation between the AFF2 gene mutation and the CdLS phenotype, with the affected individuals displaying significant changes in gene expression and X-inactivation patterns compared to an unaffected relative, suggesting that AFF2 should be included in molecular diagnosis for CdLS.
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Article Synopsis
  • The study aimed to evaluate hearing outcomes at 24 months for infants with mild congenital cytomegalovirus (cCMV) infection, comparing those who received antiviral treatment to those who did not.
  • Utilizing data from the European Registry of Children with cCMV, researchers included infants diagnosed with cCMV early in life, who had normal physical exams and mild imaging findings.
  • Results showed that 34.7% of the 196 participants received antiviral treatment, but there was no significant difference in hearing loss prevalence between treated (4.6%) and untreated groups (6.3%) after two years.
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Introduction: The value of gene therapies for haemophilia needs to be assessed holistically.

Aim: To determine the value of etranacogene dezaparvovec (ED) compared to current extended half-life (EHL) recombinant factors (rFIX), using multi-criteria decision analysis (MCDA).

Method: MCDA EVIDEM methodology adapted to orphan drugs was used, with nine quantitative criteria and four contextual criteria.

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Minimum intraoperative testing battery for cochlear implantation: the international practice trend.

Eur Arch Otorhinolaryngol

September 2024

King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University Medical City (KSUMC), King Saud University, PO Box 245, 11411, Riyadh, Saudi Arabia.

Purpose: In cochlear implantation (CI) surgery, there are a wide variety of intraoperative tests available. However, no clear guide exists on which tests must be performed as the minimum intraoperative testing battery. Toward this end, we studied the usage patterns, recommendations, and attitudes of practitioners toward intraoperative testing.

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Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).

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Background: The effectiveness of complete revascularization is well established in patients with ST-segment elevation myocardial infarction (STEMI), but it is less investigated in those with non-ST-segment elevation myocardial infarction (NSTEMI).

Objectives: This study aimed to assess whether complete revascularization, compared with culprit-only revascularization, was associated with consistent outcomes in older patients with STEMI and NSTEMI.

Methods: In the FIRE (Functional Assessment in Elderly MI Patients with Multivessel Disease) trial, 1,445 older patients with myocardial infarction (MI) were randomized to culprit-only or physiology-guided complete revascularization, stratified by STEMI (n = 256 culprit-only vs n = 253 complete) and NSTEMI (n = 469 culprit-only vs n = 467 complete).

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Prognostic impact of tumor location and gene expression profile in sporadic desmoid tumor.

Eur J Cancer

September 2024

Health Research Institute Fundación Jiménez Díaz (IIS-FJD, UAM), Madrid, Spain; Medical Oncology Department, University Hospital General de Villalba, Madrid, Spain; Medical Oncology Department, University Hospital Fundación Jiménez Díaz, Madrid, Spain. Electronic address:

Article Synopsis
  • Prognostic biomarkers are important for understanding sporadic desmoid tumors (DT) due to their unpredictable nature; this study focused on gene expression differences between DTs located in the thoracic versus abdominal wall.
  • A retrospective analysis of 197 sporadic DT patients showed significant relationships between relapse-free survival (RFS) and factors like tumor size, location, and specific gene mutations, notably the CTNNB1 T41A and S45F mutations.
  • Results suggest that tumors in the abdominal wall have a better prognosis compared to extra-abdominal locations, with distinct gene expression profiles influencing cancer pathways related to their behavior and outcomes.
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Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.

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Scope: This European Society of Clinical Microbiology and Infectious Diseases guideline provides evidence-based recommendations to support a selection of appropriate antibiotic use practices for patients seen in the emergency department (ED) and guidance for their implementation. The topics addressed in this guideline are (a) Do biomarkers or rapid pathogen tests improve antibiotic prescribing and/or clinical outcomes? (b) Does taking blood cultures in common infectious syndromes improve antibiotic prescribing and/or clinical outcomes? (c) Does watchful waiting without antibacterial therapy or with delayed antibiotic prescribing reduce antibiotic prescribing without worsening clinical outcomes in patients with specific infectious syndromes? (d) Do structured culture follow-up programs in patients discharged from the ED with cultures pending improve antibiotic prescribing?

Methods: An expert panel was convened by European Society of Clinical Microbiology and Infectious Diseases and the guideline chair. The panel selected in consensus the four most relevant antimicrobial stewardship topics according to pre-defined relevance criteria.

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Consensus document of the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Intensive Care (SECIP) for the diagnosis and treatment of central venous catheter-related infections in paediatric care.

An Pediatr (Engl Ed)

June 2024

Sección de Enfermedades Infecciosas Pediátricas, Servicio de Pediatría, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Madrid, Spain.

Intravascular devices are essential for the diagnostic and therapeutic approach to multiple diseases in paediatrics, and central venous catheters (CVCs) are especially important. One of the most frequent complications is the infection of these devices, which is associated with a high morbidity and mortality. These infections are highly complex, requiring the use of substantial resources, both for their diagnosis and treatment, and affect vulnerable paediatric patients admitted to high-complexity units more frequently.

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Background: Periprosthetic joint infection is a serious complication following joint replacement. The development of bacterial biofilms bestows antibiotic resistance and restricts treatment via implant retention surgery. Electromagnetic induction heating is a novel technique for antibacterial treatment of metallic surfaces that has demonstrated in-vitro efficacy.

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Long bone uninfected non-union: grafting techniques.

EFORT Open Rev

May 2024

Department of Orthopaedics and Trauma Surgery, Musculoskeletal University Center Munich (MUM), University Hospital, LMU Munich, Germany.

Long bone non-unions represent a serious clinical and socioeconomical problem due to the prolonged episodes, frequent sequelae, and variable treatment effectiveness. Bone grafts, classically involving the autologous iliac crest graft as the 'gold standard' bone graft, enhance bone regeneration and fracture healing incorporating osteoconductive and/or osteoinductive/osteogenic capacity to the non-union under treatment. Structural alternatives to autologous bone grafts include allografts and bone substitutes, expanding the available stock but loosing biological properties associated with cells in the graft.

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Background: Previous studies have documented a high rate of implantation success with the ACURATE neo2 valve, as well as a reduction in paravalvular leak (PVL) compared to its predecessor, the ACURATE neo. However, there are no studies that have reviewed and compared the long-term clinical and hemodynamic outcomes of these patients.

Aims: This study aimed to evaluate the results of the ACURATE neo transcatheter aortic valve in a real-world context, and to compare the results of the outcomes of both generations of this device (ACURATE neo and ACURATE neo2), with a specific focus on procedural success, safety, and long-term effectiveness.

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PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

Hum Mol Genet

June 2024

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Nicolás Cabrera 1, 28049 Madrid, Spain.

We have generated using CRISPR/Cas9 technology a partially humanized mouse model of the neurometabolic disease phenylketonuria (PKU), carrying the highly prevalent PAH variant c.1066-11G>A. This variant creates an alternative 3' splice site, leading to the inclusion of 9 nucleotides coding for 3 extra amino acids between Q355 and Y356 of the protein.

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Background: Several aspects of the occurrence and management of mycotic aneurysm (MA) in patients with infective endocarditis (IE) have not been studied.

Objectives: To determine the incidence and factors associated with MA presence and rupture and to assess the evolution of those initially unruptured MA.

Methods: Prospective multicenter cohort including all patients with definite IE between January 2008 and December 2020.

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Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.

Int J Mol Sci

February 2024

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Instituto de Biología Molecular, Departamento de Biología Molecular, Universidad Autónoma de Madrid, 28049 Madrid, Spain.

Article Synopsis
  • Nonketotic hyperglycinemia (NKH) is a rare disorder linked to severe brain malformations and neurological issues, and understanding its underlying causes is still a work in progress.
  • Researchers aimed to study how gene variants associated with NKH affect the growth and development of human stem cells into astrocytes, a type of brain cell, by creating a specific cell line for their investigation.
  • The study revealed that the modified stem cells underwent metabolic changes to adapt, which led to increased growth and a shift in the types of brain cells produced, providing insights into NKH and potential new treatment strategies.
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Violence as a Health Problem.

An Pediatr (Engl Ed)

March 2024

Consulta de Pediatría Social, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain. Electronic address:

Violence is a public health problem, and when it affects childhood, it can cause illness throughout the individual's life. Apart from being able to cause damage in the physical, mental and social spheres, it represents a violation of the rights of the affected children, and a high consumption of resources, both economic and social. A multitude of investigations have improved attention to this violence.

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Background: Preclinical and early clinical data suggest that the irreversible ErbB family blocker afatinib may be effective in urothelial cancers harbouring ERBB mutations.

Methods: This open-label, phase II, single-arm trial (LUX-Bladder 1, NCT02780687) assessed the efficacy and safety of second-line afatinib 40 mg/d in patients with metastatic urothelial carcinoma with ERBB1-3 alterations. The primary endpoint was 6-month progression-free survival rate (PFS6) (cohort A); other endpoints included ORR, PFS, OS, DCR and safety (cohorts A and B).

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With the advance of cancer therapy in recent years, the knowledge of the mechanisms involved in this disease has increased, which has meant an increase in the quality of life and survival of patients with tumor pathologies previously considered incurable or refractory to treatment. The number of drugs used has increased exponentially in number, and although the implicit toxicity is lower than that of conventional antineoplastic therapy, they lead to the appearance of new associated adverse effects that the ophthalmologist must recognize and manage.

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This study aimed to report quality of life (QoL) scores in unilateral cochlear implant (CI) users and to generate guidance for clinicians on using QoL measures to individualize CI counselling and rehabilitation and to increase access to CIs as a mode of rehabilitation. Participants (n = 101) were unilateral CI users with single-sided deafness (SSD; n = 17), asymmetrical hearing loss (AHL; n = 26), or bilateral hearing loss (Uni; n = 58). Generic QoL was assessed via the Health Utilities Index (HUI-3), and disease-specific QoL was assessed via the Speech, Spatial, and Qualities of Hearing scale (SSQ12) and Nijmegen CI Questionnaire (NCIQ) at preimplantation and at 6 and 12 months of CI use.

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