3,865 results match your criteria: "Hospital Vall D'hebron[Affiliation]"

Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study.

Clin Exp Rheumatol

October 2023

Autoinflammatory Diseases Clin Unit & Vasculitis Research Unit, Dept of Autoimmune Diseases, Hosp Clínic Barcelona, Univ of Barcelona, Inst d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA), Spanish Center of the Centros, Servicios y Unidades de Referencia (CSUR) and Catalan Center of the Xarxa d'Unitats d'Expertesa Clínica(XUEC) for Autoinflammatory Diseases, Barcelona, Spain.

Article Synopsis
  • * Among 46 patients, conjunctivitis (56.5%) and uveitis (50%) were the most common eye conditions, with cataracts and posterior synechiae being the primary structural complications.
  • * The findings indicate that this cohort experienced less severe eye involvement compared to previous studies primarily focused on children, with effective treatment leading to good visual outcomes for most patients.
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Article Synopsis
  • The ABRAZO trial studied how mutations in homologous recombination repair genes, specifically BRCA1/2, affect the effectiveness of the PARP inhibitor talazoparib in patients with those mutations.
  • Out of 60 patients evaluated, a significant majority (97%) had BRCA1/2 mutations, with a high rate of concordance (95%) between germline and tumor mutations, and many exhibited homologous recombination deficiency (HRD).
  • Non-BRCA mutations, such as TP53 and PIK3CA, are common in this population, but they do not seem to impact the sensitivity to talazoparib, which indicates the primary importance of BRCA mutations for treatment efficacy.
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Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft-tissue sarcomas with a poor survival rate, presenting either sporadically or in the context of neurofibromatosis type 1 (NF1). The histological diagnosis of MPNSTs can be challenging, with different tumors exhibiting great histological and marker expression overlap. This heterogeneity could be partly responsible for the observed disparity in treatment response due to the inherent diversity of the preclinical models used.

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Long-term survival after cardiac arrest in patients undergoing emergent coronary angiography.

Cardiovasc Revasc Med

March 2024

Hospital Clínic, Cardiovascular Clinic Institute, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. Electronic address:

Aim: To determine long-term survival of patients after cardiac arrest undergoing emergent coronary angiography and therapeutic hypothermia.

Methods: We analysed data from patients treated within the regional STEMI Network from January 2015 to December 2020. The primary endpoint was all-cause mortality at median follow-up.

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Background: Robotic-assisted neurointervention was recently introduced, with implications that it could be used to treat neurovascular diseases.

Objective: To evaluate the effectiveness and safety of the robotic-assisted platform CorPath GRX for treating cerebral aneurysms.

Methods: This prospective, international, multicenter study enrolled patients with brain aneurysms that required endovascular coiling and/or stent-assisted coiling.

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Background: Up to 50-60% of patients with diabetes have non-diabetic kidney disease (NDKD) on kidney biopsy. Diabetic retinopathy (DR) is a microvascular complication of diabetes frequently associated with diabetic nephropathy (DN). The objective of the current study was to investigate the kidney outcomes and survival in patients with biopsy diagnoses of DN and NDKD according to the presence of DR.

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In the landscape of colorectal cancer treatment, classical chemotherapeutic agents such as 5-fluorouracil, capecitabine, irinotecan, oxaliplatin, trifluridine, and tipiracil have historically played a pivotal role. This study presents a comprehensive bibliometric analysis of the top 100 most influential articles focusing on these classic chemotherapy drugs in the management of colorectal cancer. With this, we shed light on their current importance, despite the emergence of new therapeutic targets and treatments in the field of oncology.

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Article Synopsis
  • X-linked hypophosphatemia (XLH) is a rare genetic disorder that causes phosphate wasting in the kidneys and is linked to increased levels of the hormone FGF23; its rarity can lead to delayed diagnosis, worsening patient outcomes.
  • The International XLH Registry was launched in 2017 to gather data on XLH patients of all ages, with an interim analysis reporting on 579 participants as of March 2021, highlighting a longer diagnosis time for older adults compared to children.
  • Data collected included family histories and genetic testing, revealing that a significant proportion of patients had biological relatives also affected by XLH, while most had a confirmed genetic mutation related to the disorder.
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Background: Over 16 000 children under the age of 15 died worldwide in 2017 because of liver disease. Pediatric liver transplantation (PLT) is currently the standard of care for these patients. The aim of this study is to describe global PLT activity and identify variations between regions.

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Integration of ventricular remodeling, synchrony and filling rate parameters to improve the assessment of left ventricular systolic function.

Rev Esp Med Nucl Imagen Mol (Engl Ed)

November 2023

Unidad de Cardiología Nuclear, Hospital Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red: Enfermedades Cardiovasculares (CIBER-CV); Grupo de Imagen Médica Molecular (GRIMM).

Introduction And Objectives: The aim of this study is to assess the relationship between structural, remodeling, synchrony, and systolic left ventricular (LV) function parameters using gated-SPECT myocardial-perfusion-images (gSPECT-MPI). In addition, obtaining the cut-off values for end-diastolic LV-shape-index (EDLVsi), end-systolic LV-shape-index (ESLVsi), ECC (eccentricity-index) and PER, and developing a new index to evaluate different patterns of the LV systolic function.

Methods: The study was approved by the Hospital's Ethical-Committee (PR[AG]168.

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Human immunodeficiency virus (HIV) infection induces immunological dysfunction, which limits the elimination of HIV-infected cells during treated infection. Identifying and targeting dysfunctional immune cells might help accelerate the purging of the persistent viral reservoir. Here, we show that chronic HIV infection increases natural killer (NK) cell populations expressing the negative immune regulator KLRG1, both in peripheral blood and lymph nodes.

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Article Synopsis
  • CAR T cell therapy can sometimes cause long-lasting low blood cell counts, known as cytopenias, which can be a big problem for patients.
  • Researchers found that patients who had "intermittent" recovery of neutrophils (a type of white blood cell) after the therapy had better chances of survival compared to those who recovered quickly or not at all.
  • The study also showed that certain markers in the blood of patients with poor recovery indicated problems with their immune system before treatment, affecting how well the CAR T cells worked.
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Background: Periarterial divestment is a surgical technique to approach borderline resectable (BR) or locally advanced (LA) pancreatic ductal adenocarcinoma (PDAC) with arterial involvement. There are no reports in the literature regarding the role of endoscopic ultrasound and elastography (EUS-EG) in exploring the integrity of Inoue's level III and its correlation with the periarterial divestment technique feasibility. Our research is aimed at exploring the role of EUS-EG in this scenario.

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Large T cell clones expressing immune checkpoints increase during multiple myeloma evolution and predict treatment resistance.

Nat Commun

September 2023

Clinica Universidad de Navarra, Centro de Investigacion Medica Aplicada (CIMA), CCUN, Instituto de Investigacion Sanitaria de Navarra (IDISNA), CIBER-ONC numbers CB16/12/00369, CB16/12/00489, Pamplona, Spain.

Tumor recognition by T cells is essential for antitumor immunity. A comprehensive characterization of T cell diversity may be key to understanding the success of immunomodulatory drugs and failure of PD-1 blockade in tumors such as multiple myeloma (MM). Here, we use single-cell RNA and T cell receptor sequencing to characterize bone marrow T cells from healthy adults (n = 4) and patients with precursor (n = 8) and full-blown MM (n = 10).

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Chimeric antigen receptor (CAR) T cells targeting CD19 have changed the treatment landscape of patients with relapsed/refractory diffuse large B-cell lymphoma. Infections are one of the most frequent complications after CAR T-cell therapy. Most of these infections are bacterial, although viral infections can also occur in this setting.

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Antibiotic Prophylaxis in Infants with Grade III, IV, or V Vesicoureteral Reflux.

N Engl J Med

September 2023

From the Pediatric Nephrology, Dialysis, and Transplant Unit (W.M., G.P., J.S., G.M.) and the Pediatric Urology Unit (D.G.M.), Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, and the Department of Clinical Sciences and Community Health, University of Milan (G.M.), Milan, the Department of General and Specialized Surgery for Women and Children, Università degli Studi della Campania "Luigi Vanvitelli," Naples (A.L.M., S.G., P.M.), the Institute for Maternal and Child Health-IRCCS Burlo Garofolo (M.P., E. Barbi) and the Department of Medical, Surgical, and Health Sciences, University of Trieste (E. Barbi), Trieste, Pediatric Nephrology and Dialysis, Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna (C.L.S., A.P.), the Nephrology and Dialysis Unit, Meyer Children's Hospital, Florence (F.B., M.M.), Pediatria C, Ospedale Donna Bambino, Verona (M.B.), the Pediatric Nephrology and Rheumatology Unit, Azienda Ospedaliera Universitaria Gaetano Martino, University of Messina, Messina (R.C.), the Nuclear Medicine Unit, Circolo Hospital and Macchi Foundation, Azienda Socio Sanitaria Territoriale Sette Laghi, Varese (D.D.P.), the Nuclear Medicine Unit, Department of Medicine, University Hospital of Padua (P.Z.), and the Pediatric Nephrology, Dialysis, and Transplantation Unit, Department of Women's and Children's Health, University of Padua (I.A.), Padua - all in Italy; the Department of Pediatric Nephrology, Başkent University Faculty of Medicine (E. Baskin, K.G.), and the Department of Pediatric Nephrology, Ankara University School of Medicine (F.Y., Z.B.O.), Ankara, the Department of Pediatric Nephrology and Pediatric Rheumatology, Pamukkale University School of Medicine, Denizli (S.Y.), and the Department of Pediatric Nephrology, Istanbul University-Cerrahpaşa, Cerrahpaşa School of Medicine, Istanbul (S.C.) - all in Turkey; the Pediatric Center, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius (A.J., D.R.), and the Department of Radiology, Medical Academy, Lithuanian University of Health Sciences Kauno Klinikos, Kaunas (D.V.) - both in Lithuania; the Department of Pediatrics, Nephrology, and Hypertension, Medical University of Gdansk, Gdansk (A.Z., A.K.), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (G.K., A.S.), the Department of Pediatric Nephrology and Hypertension, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College, Krakow (D.D.), the Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice (M.S.), the Department of Pediatrics and Nephrology, Medical University of Bialystok, Bialystok (K.T.-J.), and the Department of Pediatrics, Immunology, and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.) - all in Poland; the Department of Pediatric Nephrology, University Hospitals Leuven (D.M., S.D.R.), and PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven (D.M.), Leuven, and the Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège (J.L.) - all in Belgium; the Department of Pediatric Nephrology, University Hospital Vall d'Hebron, and Universidad Autónoma de Barcelona, Hospital Vall d'Hebron (G.A.), and Pediatric Nephrology, Hospital General de Granollers, Universitat Internacional de Catalunya (M.C.), Barcelona, and Hospital General Universitario Santa Lucía, Cartagena (J.E.C.S.) - all in Spain; the University of Cologne, Faculty of Medicine and University Hospital Cologne, Children's and Adolescents' Hospital, Cologne (L.T.W.), and the Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg (O.M., F.S.) - both in Germany; and the Division of Pediatric Nephrology, Centro Materno Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal (A.C.A.).

Background: The efficacy of continuous antibiotic prophylaxis in preventing urinary tract infection (UTI) in infants with grade III, IV, or V vesicoureteral reflux is controversial.

Methods: In this investigator-initiated, randomized, open-label trial performed in 39 European centers, we randomly assigned infants 1 to 5 months of age with grade III, IV, or V vesicoureteral reflux and no previous UTIs to receive continuous antibiotic prophylaxis (prophylaxis group) or no treatment (untreated group) for 24 months. The primary outcome was the occurrence of the first UTI during the trial period.

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Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.

Ann Clin Transl Neurol

November 2023

Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

Article Synopsis
  • The research aimed to create a structured method for classifying treatments aimed at modifying diseases related to survival motor neuron (SMA).
  • The classification system categorizes treatments based on whether they are initial therapies or involve the continuation/discontinuation of further therapies, with specific treatment scenarios identified.
  • By applying this classification to 443 patients in the RESTORE registry, the study examined patient demographics and established a framework for analyzing the safety and effectiveness of various treatment combinations in SMA.
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Short-Term Changes in Peak VO After Initiation of Dapagliflozin in Heart Failure Across Iron Status.

JACC Heart Fail

November 2023

Cardiology Department, Hospital Clínico Universitario de Valencia, Valencia, Spain; INCLIVA, Valencia, Spain; Universitat de València, Valencia, Spain; CIBER Cardiovascular, Madrid, Spain. Electronic address:

Article Synopsis
  • Some studies suggest SGLT2 inhibitors like dapagliflozin can impact how cells use iron, particularly in patients with heart failure and reduced ejection fraction (HFrEF).
  • The study aimed to evaluate the effects of dapagliflozin on iron parameters and peak oxygen consumption (Vo) in HFrEF patients.
  • Results showed dapagliflozin significantly decreased ferritin levels and increased peak Vo at 1 and 3 months, especially in patients with lower baseline iron levels, indicating improved energy efficiency linked to iron use.
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The phenotypic presentation of adult individuals with -related neurodevelopmental disorders.

Front Neurosci

August 2023

Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Member of the European Reference Network, EpiCARE, Dianalund, Denmark.

Introduction: is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. -neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population.

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Background: HTLV-1 infection is a neglected disease, despite producing neurological and lymphoproliferative severe illnesses and affect over 10 million people worldwide. Roughly 5% of HTLV-1 carriers develop Adult T-cell leukemia/lymphoma (ATLL), one of the most aggressive hematological malignancies.

Methods: A national HTLV-1 register exists since 1989 in Spain, a non-endemic country with a large migrant flow from Latin America and Equatorial Africa, where HTLV-1 is endemic.

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Magnetic resonance imaging (MRI) is the most sensitive technique for detecting inflammatory demyelinating lesions in multiple sclerosis (MS) and plays a crucial role in diagnosis and monitoring treatment effectiveness, and for predicting the disease course. In clinical practice, detection of MS lesions is mainly based on T2-weighted and contrast-enhanced T1-weighted sequences. Contrast-enhancing lesions (CEL) on T1-weighted sequences are related to (sub)acute inflammation, while new or enlarging T2 lesions reflect the permanent footprint from a previous acute inflammatory demyelinating event.

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Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making. We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.

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Background: While recent studies suggest a benefit of mechanical thrombectomy (MT) for the treatment of patients with isolated large vessel occlusions presenting after 24 hours from the last known well (LKW), the effect of MT for acute cervical tandem lesions (TLs) beyond 24 hours remains unknown. We aimed to evaluate the safety and effectiveness of MT beyond 24 hours of LKW in patients with TLs.

Methods: We conducted a subanalysis study of patients with anterior circulation TL enrolled in a large, multicenter registry between January 2015 and December 2020.

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