A5018290621- Osteoarthritis Treatment and Mechanisms
- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Bone health and osteoporosis research
- Bone Metabolism and Diseases
- Spine and Intervertebral Disc Pathology
- Musculoskeletal pain and rehabilitation
- Genomics and Rare Diseases
- Cancer-related gene regulation
- Retinal Diseases and Treatments
- Tracheal and airway disorders
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Knee injuries and reconstruction techniques
- Shoulder Injury and Treatment
- Estrogen and related hormone effects
- Bipolar Disorder and Treatment
- Connective tissue disorders research
- Receptor Mechanisms and Signaling
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Orthopedic Surgery and Rehabilitation
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
Instituto Nacional de Rehabilitación
2016-2025
Universidade Tuiuti do Paraná
2024
National Institute of Genomic Medicine
2023
Genethon (France)
2023
Genomic (Brazil)
2022
VA Caribbean Healthcare System
2021
Centro Hospitalar de Entre o Douro e Vouga E.P.E.
2021
Universidad Politécnica de Madrid
2021
Algarve Biomedical Center
2017
Utrecht University
2015
Objective To analyze a set of circulating microRNA (miRNA) in plasma from patients with primary Osteoarthritis (OA) and describe the biological significance altered miRNA OA based on an silico analysis their target genes. Methods expression was analyzed using TaqMan Low Density Arrays independent assays. The search for potential messenger RNA (mRNA) targets differentially expressed performed by means miRWalk miRecords database; we conducted relevance predicted pathway Reactome DAVID...
Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading delays diagnosis, effective treatments, and preventative measures. The NEUROMYODredger-3billion Megaproject End the Diagnostic Odyssey grant offered free whole exome sequencing (WES) 245 patients with undiagnosed neurodevelopmental or neuromuscular disorders seven countries: Algeria, Chile, Egypt, France, Mexico, Peru, Romania. We found pathogenic variants 79...
Abstract A 41‐year‐old man had ichthyosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver, skin, leukocytes, gastric mucosa. Lipid storage was particularly marked cultures of skin it increased subsequent cell generations. By electron microscopy, the globules no limiting membranes. The stored identified by thin‐layer chromatography as triglyceride; there excess cholesterol or cholesteryl esters. Muscle...
Obtaining a perfect color match with resin composite presents significant challenge. The chameleon effect has enabled to mimic the of adjacent tooth structure in vitro. This double-blind, split-mouth and equivalent randomized clinical trial evaluated matching one-shade versus multi-shade non-carious cervical lesion restorations (NCCLs). One hundred twenty were performed on NCCLs two restorative materials (n = 60). After prophylaxis, teeth isolated rubber dam one universal adhesive was...
Pompe disease (PD) is a neuromuscular disorder caused by acid α-glucosidase (GAA) deficiency. Reduced GAA activity leads to pathological glycogen accumulation in cardiac and skeletal muscles responsible for severe heart impairment, respiratory defects, muscle weakness. Enzyme replacement therapy with recombinant human (rhGAA) the standard-of-care treatment PD, however, its efficacy limited due poor uptake development of an immune response. Multiple clinical trials are ongoing PD...
Purpose: Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report results first LOXL1 polymorphisms XFS and/or Latin American population.Methods: Genotypes three high-risk (rs1048661, rs3825942, rs2165241) were analyzed by direct sequencing. case-control conducted with 102 unrelated XFS/XFG Mexican patients (42 XFS/60...
Fear-avoidance beliefs are related to the prognosis of chronicity in low back pain subacute stages, however chronic pain, is no clear influence these factors; it has been suggested that study population can determine magnitude on disability and those suffering from pain. Currently, information does not exist Mexican population.To analyze relationship between fear-avoidance with Mexicans pain; potentials differences subgroups according time evolution.Cross-sectional LBP aged 18 45. Data were...
Diagnosis of developmental dysplasia the hip (DDH) mostly relies on physical examination and ultrasound, both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports involvement environmental genetic factors, such as single nucleotide variants (SNVs). Incorporating factors into diagnostic would be useful for implementing early management affected individuals. Our aim was analyze SNVs DDH patients. We included 287 cases 284 controls....
The growth of SJL B cell lymphomas (RCS, reticulum sarcoma) in vivo and vitro is known to depend on cytokine production by RCS-responsive host CD4+ T cells. high frequency RCS responsive cells normal lymph nodes prompted us prepare a set 21 RCS-specific hybridomas. Like cells, these hybridoma respond RCS, but not syngeneic cells; produce IL-2, IL-4, IL-5; promote gamma-irradiated hosts. A superantigen-like stimulation was borne out the fact that all hybridomas used V beta 16 their TCR. did...
Limb-Girdle Muscular Dystrophy type 2 (LGMD2) is a group of autosomally recessive inherited disorders defined by weakness and wasting the shoulder pelvic girdle muscles. In past, several population isolates with high incidence LGMD2 arising from founder mutation effects have been identified. The aim this work to describe results clinical, epidemiologic, molecular studies performed in Mexican village segregating numerous cases LGMD2. A census was conducted identify all LGMD affected patients....
Aims: To evaluate the role of Langerhans cells (LCs) in local activation leprosy lesions. LCs, acting as tolerance inducers and immune stimuli, are dendritic recently implicated cutaneous homeostasis. The LCs defence against mycobacterial infection remains poorly understood. Methods results: number distribution CD1a+ skin HLA‐DR intercellular adhesion molecule (ICAM)‐1 expression were analysed lesions delayed‐type hypersensitivity (DTH) tests. results showed a high tuberculin lepromin tests,...
Abstract Spasticity has been successfully managed with different treatment modalities or combinations. No information is available on the effectiveness individual contribution of botulinum toxin type A (BTA) combined physical and occupational therapy neuromuscular electrical stimulation to treat spastic upper limb. The purpose this study was assess effects such inform sample‐size calculations for a randomized controlled trial. BTA injected into limb muscles 10 children. They received...