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L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
(Pharmaceuticals, 2019)Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ... -
Latent class analysis of multimorbidity patterns and associated outcomes in Spanish older adults: a prospective cohort study
(BioMed Central geriatrics, 2017)This study sought to identify multimorbidity patterns and determine the association between these latent classes with several outcomes, including health, functioning, disability, quality of life and use ... -
Limited joint mobility progression in type 1 diabetes: a 15-year follow-up study
(International Journal of Endocrinology, 2018)Objective. To assess the evolution of joint mobility over a period of 15 years in type 1 diabetic patients and healthy controls and to determine whether microalbuminuria is associated with a different ... -
Liver CPT1A gene therapy reduces diet‐induced hepatic steatosis in mice and highlights potential lipid biomarkers for human NAFLD
(Federation of American Societies for Experimental Biology, 2020)The prevalence of nonalcoholic fatty liver disease (NAFLD) has increased drastically due to the global obesity pandemic but at present there are no approved therapies. Here, we aimed to revert high‐fat ... -
Localized refractive changes induced by symmetric and progressive asymmetric intracorneal ring segments assessed with a 3D finite-element model
(Bioengineering, 2023)To build a representative 3D finite element model (FEM) for intracorneal ring segment (ICRS) implantation and to investigate localized optical changes induced by different ICRS geometries, a hyperelastic ... -
Long-term anatomical and functional outcomes after autokeratoplasty
(British Journal of Ophthalmology, 2021)Background: To evaluate the anatomical and functional outcomes of autologous contralateral penetrating keratoplasty (autokeratoplasty). Methods: Kaplan-Meier survival analyses were retrospectively ... -
Long-term anatomical and functional survival of Boston type 1 keratoprosthesis in congenital aniridia
(Frontiers in Medicine, 2021)Purpose: To analyze the long-term anatomical survival, functional survival, and complications of Boston type 1 keratoprosthesis (KPro) in the eyes with congenital aniridia-associated keratopathy (AAK). ... -
Long-term efficacy and effectiveness of abehavioural and community-basedexercise intervention (Urban Training) toincrease physical activity in patients withCOPD: a randomised controlled trial
(European Respiratory Journal, 2018)There is a need to increase and maintain physical activity in patients with chronic obstructive pulmonary disease (COPD). We assessed 12-month efficacy and effectiveness of the Urban Training intervention ... -
Long-term follow-up of partial bleb excision in late-onset bleb-related complications by a single surgeon using conjunctival advancement
(Journal of Glaucoma, 2019)Purpose: The purpose of this study was to describe the long-term results of partial bleb excision in late-onset bleb-related complications by a single experienced surgeon using the same surgical technique. ... -
Long-term outcome of radiotherapy-induced taste dysfunction in head and neck cancer patients: a pilot study
(Journal of Dental Problems and Solutions, 2020)Aims: Taste dysfunction is a frequent complaint in head and neck cancer patients treated with Radiation Therapy (RT), which impairs nutritional support and affects quality of life. A prospective unicenter ... -
Low resilience was a risk factor of mental health problems during the COVID-19 pandemic but not in individuals exposed to COVID-19: a cohort study in spanish adult general population
(International Journal of Environmental Research and Public Health, 2022)Background: The aim is to analyze whether people with low resilience are at higher risk of mental health problems during the COVID-19 pandemic in Spanish adults. Methods: a longitudinal cohort study was ... -
Low transmission of SARS-CoV-2 derived from children in family clusters: an observational study of family households in the Barcelona Metropolitan Area, Spain
(PLoS ONE, 2022)Background: Family clusters offer a good opportunity to study viral transmission in a stable setting. We aimed to analyze the specific role of children in transmission of SARS-CoV-2 within households. ... -
Lower admission blood pressure as an independent predictor of 1-year mortality in elderly patients experiencing a first hospitalization for acute heart failure
(Hellenic Journal of Cardiology, 2019)Background: Systolic blood pressure (SBP) is an acknowledged prognostic factor in patients with heart failure (HF). Admission SBP should be a risk factor for 1-year mortality even in elderly patients ... -
Lung ultrasound and procalcitonin, improving antibiotic management and avoiding radiation exposure in pediatric critical patients with bacterial pneumonia: a randomized clinical trial
(European Journal of Medical Research, 2024)Background: Pneumonia is a major public health problem with an impact on morbidity and mortality. Its management still represents a challenge. The aim was to determine whether a new diagnostic algorithm ... -
Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: the COVIDSurg mortality score
(British Journal of Surgery, 2021)Since the beginning of the COVID-19 pandemic tens of millions of operations have been cancelled1 as a result of excessive postoperative pulmonary complications (51.2 per cent) and mortality rates (23.8 ... -
Machine learning to understand the immune-inflammatory pathways in fibromyalgia
(International Journal of Molecular Sciences, 2019)Fibromyalgia (FM) is a chronic syndrome characterized by widespread musculoskeletal pain, and physical and emotional symptoms. Although its pathophysiology is largely unknown, immune-inflammatory pathways ... -
Mad3 modulates the G1 Cdk and acts as a timer in the Start network
(Science Advances, 2022)Cells maintain their size within limits over successive generations to maximize fitness and survival. Sizer, timer, and adder behaviors have been proposed as possible alternatives to coordinate growth ... -
Manejo de pacientes en cirugía oral y maxilofacial durante el periodo de crisis y de control posterior de la pandemia de COVID-19
(Revista Española de Cirugía Oral y Maxilofacial, 2020)La pandemia por la nueva infección respiratoria conocida como enfermedad coronavirus 2019 (COVID-19), causada por el virus SARS-CoV-2, ha desencadenado una perturbación sin precedentes en la actividad ... -
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted human mutation
(Human Mutation, 2017)Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare cause of pulmonary hypertension in newborns. Maternally inherited point mutations in Forkhead Box F1 gene (FOXF1), ... -
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
(Human Molecular Genetics, 2009)Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...