Departamento de Clínica Médica - FM/MCM
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A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma
SEXUAL DEVELOPMENT, v.16, n.1, p.55-63, 2022
Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypi...
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Demographic, clinical, laboratory data, prognostic, and treatment features of patients with antisynthetase syndrome: An international, two-center cohort study
ARCHIVES OF RHEUMATOLOGY, v.37, n.3, p.424-434, 2022
Objectives: To compare clinical, demographic, laboratory data, prognostic and treatment characteristics of patients with antisynthetase syndrome (ASSD) treated in two different centers of India and Brazil. Patients and methods: This international, two-center, retro-prospective cohort study which ...
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Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
SEXUAL DEVELOPMENT, v.16, n.1, p.27-33, 2022
Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadias in boys born SGA using massively parallel seq...
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WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease
SEXUAL DEVELOPMENT, v.16, n.1, p.46-54, 2022
Wilms' tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of WT1 have been classically associated with Denys-Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in t...
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ABX464 (obefazimod) for patients with COVID-19 at risk for severe disease: miR-AGE, a randomized, double-blind placebo-controlled trial
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: GLOBAL, v.2, n.4, article ID 100140, p, 2023
Background: ABX464 (obefazimod) is a small molecule that upregulates a single microRNA (miR-124) in immune cells and reduces the production of various inflammatory cytokines and chemokines. Objective: We assessed the efficacy and safety of the standard of care (SoC) plus oral obefazimod (SoC plus...
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Intensive glucose control in critically ill adults: a protocol for a systematic review and individual patient data meta-analysis
CRITICAL CARE SCIENCE, v.35, n.4, p.345-354, 2023
Objective: The optimal target for blood glucose concentration in critically ill patients is unclear. We will perform a systematic review and meta-analysis with aggregated and individual patient data from randomized controlled trials, comparing intensive glucose control with liberal glucose contro...
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Rapid viral metagenomics using SMART-9N amplification and nanopore sequencing
WELLCOME OPEN RESEARCH, v.6, article ID 241, p, 2023
Emerging and re-emerging viruses are a global health concern. Genome sequencing as an approach for monitoring circulating viruses is currently hampered by complex and expensive methods. Untargeted, metagenomic nanopore sequencing can provide genomic information to identify pathogens, prepare for ...
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Increased Prolonged Sitting in Patients with Rheumatoid Arthritis during the COVID-19 Pandemic: A Within-Subjects, Accelerometer-Based Study
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, v.20, n.5, article ID 3944, p, 2023
Background: Social distancing measures designed to contain the COVID-19 pandemic can restrict physical activity, a particular concern for high-risk patient groups. We assessed rheumatoid arthritis patients’ physical activity and sedentary behavior level, pain, fatigue, and health-related quality ...
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RNA-SEQUENCING OF CLASSICAL MONOCYTES FROM RHEUMATOID ARTHRITIS PATIENTS WITH AND WITHOUT BONE EROSION
ANNALS OF THE RHEUMATIC DISEASES, v.82, suppl.1, p.841-841, 2023
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Characteristics and benefits of responders to a behavioral intervention to increase physical activity in asthma: preliminary data from a pragmatic study
EUROPEAN RESPIRATORY JOURNAL, v.62, suppl.67, article ID PA352, 3p, 2023
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