A5022679084- Clinical Laboratory Practices and Quality Control
- Dermatology and Skin Diseases
- RNA modifications and cancer
- Meta-analysis and systematic reviews
- Healthcare cost, quality, practices
- Acute Lymphoblastic Leukemia research
- Oral and Maxillofacial Pathology
- Vitamin D Research Studies
- Hedgehog Signaling Pathway Studies
- Congenital Ear and Nasal Anomalies
- Congenital heart defects research
- Statistical Methods in Clinical Trials
- Inflammatory Bowel Disease
- Craniofacial Disorders and Treatments
- Biosimilars and Bioanalytical Methods
- HIV/AIDS drug development and treatment
- Food Allergy and Anaphylaxis Research
- Cancer-related gene regulation
- Genetics and Neurodevelopmental Disorders
- Aluminum toxicity and tolerance in plants and animals
- Stress Responses and Cortisol
- Genomics and Chromatin Dynamics
- Exercise and Physiological Responses
- Central Venous Catheters and Hemodialysis
- Cancer and Skin Lesions
Hospital Universitario Miguel Servet
2015-2023
Spanish Society of Family and Community Medicine
2022
We lack predictors of response to biologics in the management patients with inflammatory bowel disease (IBD). A recent study has shown a significant association between HLA-DQA1*05 carriers and development loss anti-tumor necrosis factor (TNF) mediated by immunogenicity.
Abstract Objectives The estimates of biological variation (BV) have traditionally been determined using direct methods, which present limitations. In response to this issue, two papers published addressing these limitations by employing indirect methods. Here, we a new procedure, based on methods that analyses data collected within multicenter pilot study. Using method, obtain CV I and calculate confidence intervals (CI), the EFLM-BVD as gold standard for comparison. Methods Data were over...
Abstract Background/Objectives Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, and often associated with a personal or family history of atopic disease. The presence loss‐of‐function mutations in filaggrin gene ( FLG ) main predisposing factor for AD show ethnic geographical variations, even between European populations. We sought to determine frequency 3 common null population Spanish children consisting healthy controls patients. also investigated association these...
Monoclonal (M) components can interfere with the direct bilirubin (D-Bil) assay on AU Beckman Coulter instrumentation and produce spurious results, such as D-Bil values greater than total (T-Bil) or very low/negative values. If properly detected, this interference may uncover undiagnosed patients monoclonal gammopathy (MG).We investigated rate in serum samples known to contain M proteins along their isotype described protocol set up our laboratory help diagnosis of MG based results first...
Background Weiss-Kruszka syndrome (WSKA) is a rare disorder caused by mutations in the ZNF462 gene or deletion of 9p31.2 chromosome region, involving ZNF462. The prevalence WSKA unknown as only 24 affected individuals have been described. This should be suspected presenting mild global developmental delay and common craniofacial abnormalities.Case presentation We presented case an infant, 3 years 4-month life who pondostatural psychomotor retardation, generalized hypotonia with...
Abstract Background: The direct bilirubin (D-Bil) assay on the AU Beckman Coulter instrumentation can be interfered by paraproteins, which may result in spurious D-Bil results. In a previous work, we took advantage of this fact to detect interference, thus helping with identification patients unsuspected monoclonal gammopathies. investigate possibility interference based review photometric reactions, regardless result. Methods: was carried out set 2164 samples. It included group 164 samples...
The objective of the present study was to examine evolution analytical performance specifications (APS) used in External Quality Assurance (EQA) schemes, as well efficacy a category 1 EQA scheme monitoring harmonization clinical laboratory results Spain.A review literature on types quality schemes other countries and their performed. In addition, comparative analysis potential impact that different APS from eight had decision-making made based three measurands: sodium, thyroid-stimulating...
Abstract The purpose of this study is to understand the evolution analytical performance laboratories participating in Spanish society laboratory medicine (SEQC ML ) external quality assurance (EQA) programmes during its 30 years operation and compare it with other EQA establish whether results are similar. obtained period evaluated by applying biological variability (BV) state art-derived specifications. In addition, compared those programme organisations. It noted that EQA–SEQC have...
Resumen Introducción El objetivo de este estudio es comprobar la evolución las especificaciones prestación analítica (EPA) utilizadas en programas garantía externa calidad (EQA) y el papel un programa categoría 1 vigilancia estandarización los laboratorios clínicos España. Métodos Se ha revisado bibliografía sobre tipos usados otros países se comprobado su evolución; comparado posible impacto distintas EPA empleadas ocho toma decisiones clínicas con tres ejemplos magnitudes: sodio,...
Abstract Objetivos El objetivo de este estudio es conocer la evolución prestación analítica los laboratorios participantes en programas EQA SEQC ML durante 30 años funcionamiento y compararla con obtenida otros para saber si resultados son similares. Métodos Se evalúan obtenidos periodo, aplicando las especificaciones calidad derivadas VB del estado arte. Además, se realiza una comparación por otras organizaciones EQA. Resultados observa que EQA-SEQC han mejorado su experiencia variación...
Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase (FLD), also called Norum disease, appears when the complete. They are both rare genetic disorders inherited an autosomal recessive manner. Clinical signs include decreased circulating HDL cholesterol and dense corneal opacity. Kidney injuries affect patients suffering from FLD. The diagnosis of FLD based on presence characteristic symptoms confirmed by...
Abstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF characterize developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and skeletal abnormalities. Case presentation We presented case of child with delayed psychomotor development in all areas, scoliosis, peculiar facies, suspicion intermittent endotropia, alteration alignment one...
Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in VDR CYP24A1 have been previously associated with AD.We sought to characterize associations between lipid biochemical profile children diagnosed AD.A total 246 participants (143 patients AD 103 healthy controls) were enrolled this study....
Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by variants PTCH1 , SUFU, or PTCH2 genes. It characterized multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. Case presentation A novel splice-site variant the gene, c.3549+1G>T classified as pathogenic, was identified patient with phenotype compatible GS (multiple carcinomas malformations). Conclusions This...
Abstract Background Rahman syndrome (RMNS) is a rare genetic disorder inherited in an autosomal dominant manner caused by de novo mutation H1-4 gene. Since there are few cases described the literature, prevalence of unknown. RMNS should be suspected individuals presenting mild to severe intellectual disability associated with behavioural problems. Case presentation A novel variant gene: c.139G > C p.(Ala47Pro), classified as likely pathogenic, was identified patient phenotype compatible...
<sec> <title>BACKGROUND</title> Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced vitamin D deficiency. Single-nucleotide polymorphisms (SNPs) in <i>VDR</i> <i>CYP24A1</i> have been previously associated with AD. </sec> <title>OBJECTIVE</title> We sought to characterize associations between lipid biochemical profile children...