Publications by authors named "Perini J"

Tendon structure is predominantly composed of the extracellular matrix (ECM), and genetic variants in non-collagenous ECM components may influence susceptibility to tendinopathy. We investigated the potential influence of single nucleotide polymorphisms (SNPs) in fibrillin-2 (), tenascin-C (), and matrix metalloproteinase-3 () on the tendon regeneration failure phenotype and impact on the susceptibility to tendinopathy in Brazilian high-performance athletes. This case-control study was conducted with 397 high-performance athletes from different sports modalities (197 tendinopathy cases and 200 controls), and they were analyzed by validated TaqMan SNP genotyping assays of the SNPs (rs331079), (rs2104772), and (rs591058).

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Cadmium (Cd) is a toxic metal which is harmful to humans and the environment. Cd levels and adverse effects may be associated with genetic polymorphisms in genes involved in its toxicokinetics. This study investigated Cd levels in 198 residents of a condominium in Rio de Janeiro, Brazil, built on industrial steel slag waste and the influence of glutathione S-transferase pi isoform 1 () rs1695 A>G polymorphism.

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Objectives: We report, for the first time, the distribution of four no-function NAT2 single nucleotide polymorphisms and inferred NAT2 acetylator phenotypes in three indigenous groups (Munduruku, Paiter-Suruí, and Yanomami), living in reservation areas in the Brazilian Amazon.

Methods: Two hundred and seventy-six participants from three indigenous groups (92 for each group) were included and genotyped for four NAT2 polymorphisms (rs1801279, rs1801280, rs1799930, and rs1799931) by the TaqMan system. Minor Allele Frequency (MAF) was determined and NAT2 acetylator phenotypes were inferred.

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Genetic polymorphisms may influence mercury (Hg) toxicity. The aims of this study were to evaluate individual factors, such as the presence of the rs1695 polymorphism, associated with internal Hg dose and child neurodevelopment in indigenous people from the Brazilian Amazon chronically exposed to Hg. Eighty-two indigenous children were clinically evaluated, hair Hg was measured, and the rs1695 polymorphism was genotyped.

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The viscosity measurements are of clinical significance for evaluation of the potential pathological conditions of biological lubricants such as synovial fluids of joints, and for formulation and characterization of peptide- and protein-based biotherapeutics. Due to inherent potential therapeutic activity, protein drugs have proven to be one of the most efficient therapeutic agents in treatment of several life-threatening disorders, such as diabetes and autoimmune diseases. However, home-use applications for treating chronic inflammatory diseases, such as diabetes and rheumatoid arthritis, necessitate the development of high-concentration insulin and monoclonal antibodies formulations for patient self-administration.

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Traumatic muscle injuries (TMIs) and muscle pain (MP) negatively impact athletes' performance and quality of life. Both conditions have a complex pathophysiology involving the interplay between genetic and environmental factors. Yet, the existing data are scarce and controversial.

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Mercury (Hg) pollution is a global public health concern because of its adverse effects on the environment and health. Single-nucleotide polymorphisms (SNPs) have been associated with Hg levels and outcomes. The aim of this review was to describe the research and discuss the evidence on the genetic susceptibility of Hg-exposed individuals to the development of neurocognitive disorders.

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Article Synopsis
  • The study is the first to report on the distribution of single nucleotide polymorphisms (SNPs) and metabolic traits related to thiopurine drug toxicity in three indigenous groups in the Brazilian Amazon: Munduruku, Paiter-Suruí, and Yanomami.
  • The minor allele frequency for certain SNPs was notably high in the Paiter-Suruí group, indicating significant genetic differences; specifically, MAFs were found to be the largest globally for two SNPs.
  • There were also significant variations in metabolic phenotypes across the groups, which has important implications for personalized medicine, leading to recommendations for reduced thiopurine doses for a substantial portion of the Paiter-Suruí group compared to the
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Despite the successful use of the radiopharmaceutical radium-223 dichloride ([Ra]RaCl) for targeted alpha therapy of castration-resistant prostate cancer patients with bone metastases, some short-term side effects, such as diarrhea and vomiting, have been documented, causing patient discomfort. Hence, we prepared a nanosized micellar solution of [Ra]RaCl and evaluated its biodistribution, pharmacokinetics, and induced biochemical changes in healthy mice up to 96 h after intraperitoneal administration as an alternative to overcome the previous limitations. In addition, we evaluated the bone specificity of micellar [Ra]RaCl in patient-derived xenografts in the osteosarcoma model.

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Purpose: Abnormal leptin bioavailability has play key roles in the etiology of adolescent idiopathic scoliosis (AIS). Both leptin and its receptor levels may be modulated by the presence of genetic polymorphisms. This study aimed to evaluate the role of polymorphisms in the leptin (LEP) and its main receptor (LEPR) genes in the AIS susceptibility in girls.

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Background: Açaí, a Brazilian native fruit, has already been demonstrated to play a role in the progress of breast cancer and cardiotoxicity promoted by chemotherapy agents. Thus, the present study aimed to evaluate the combined use of açaí and the FAC-D chemotherapy protocol in a breast cancer model in vivo.

Methods: Mammary carcinogenesis was induced in thirty female Wistar rats by subcutaneous injection of 25 mg/kg 7,12-dimethylbenzanthracene (DMBA) in the mammary gland.

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Endometriosis presents a pro-inflammatory microenvironment influenced by cytokines, such as interleukin (IL)-8, which expression may be influenced by genetic polymorphisms. Therefore, we aimed to investigate the role of interleukin (IL)-8 rs4073 polymorphism in endometriosis' development and its related symptoms. A case-control study was conducted with 207 women with endometriosis and 193 healthy controls.

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Article Synopsis
  • The study investigated how certain gene variations (polymorphisms) in collagen type I relate to the risk of developing tendinopathy among Brazilian athletes.
  • Conducted with 242 athletes (55 with tendinopathy), it identified specific polymorphisms (rs42524 and rs2621215) that significantly increased the likelihood of tendinopathy, particularly in those aged 25 or older and with over 6 years of sports experience.
  • Results showed that while some genetic variations elevated the risk, a certain haplotype appeared to reduce the risk of developing the condition.
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Complex diseases are associated with the effects of multiple genes, proteins, and biological pathways. In this context, the tools of Network Medicine are compatible as a platform to systematically explore not only the molecular complexity of a specific disease but may also lead to the identification of disease modules and pathways. Such an approach enables us to gain a better understanding of how environmental chemical exposures affect the function of human cells, providing better perceptions about the mechanisms involved and helping to monitor/prevent exposure and disease to chemicals such as benzene and malathion.

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Genetic polymorphisms may be involved with mercury levels and signs and symptoms of intoxication from this exposure. Therefore, the aims were to describe the frequency of the polymorphism and to evaluate its effects on mercury levels and neurological signs in three Munduruku indigenous villages in the Brazilian Amazon. One-hundred-and-seven indigenous (over 12 years old) were included and genotyped (rs1695) using a TaqMan validated assay.

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This study investigated the mechanism of action of clotrimazole (CTZ) and its adverse effects in a model of endometriosis. After autologous endometrial implantation, 18 rats were randomized into two treatment groups: 200 mg/kg CTZ or vehicle for 15 consecutive days. The lesion growth, implant size, glandular atrophy, nitric oxide (NO) serum levels, number of macrophage cells and inducible nitric oxide synthase (iNOS) immunoreactivity were significantly reduced in the CTZ group compared with the control.

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Genetic polymorphisms in the matrix metalloproteinases () family genes may be associated with cadmium (Cd) levels and its adverse effects. This study investigated the impact of and polymorphisms on Cd levels in 238 residents of a condominium in Rio de Janeiro, Brazil, built over an industrial steel slag waste. Polymorphisms were genotyped using TaqMan validated assays, and the Cd levels were measured in blood (BCd) and urine (UCd) samples by atomic absorption spectrometry.

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Article Synopsis
  • Genetic variations in the PAX-1 gene are linked to the development of adolescent idiopathic scoliosis (AIS), which affects spinal structure formation.
  • The study involved analyzing genetic samples from 59 AIS patients and 119 healthy individuals to identify associations between specific polymorphisms (rs6137473 and rs169311) and AIS susceptibility.
  • Results showed that both genetic polymorphisms increase the risk of developing AIS and are correlated with the severity of spinal curvature, suggesting their potential use as biomarkers for assessing AIS treatment needs.
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Introduction: Pregnancy in transgender men is an area of increasing study due to data showing that pregnancy can occur in this population despite the reduction in fertility that generally accompanies treatment with gender-affirming hormone therapies.

Case: In this case, we describe a healthy 21-year-old transgender man who was able to achieve pregnancy without reproductive assistance after stopping his testosterone therapy for 2 months. .

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  • The study focused on patient care for COVID-19 in a Brazilian referral center, analyzing factors affecting mortality, length of stay, and diagnostic outcomes during May 2020 with a sample size of 1,100 patients.
  • 76% of patients tested positive for COVID-19, primarily through RT-qPCR, revealing a high prevalence of hypertension, diabetes, and obesity among individuals, especially those aged over 52.
  • Key findings indicated that age, pulmonary impairment, and hypertension significantly impacted patient mortality and hospitalization duration, emphasizing the importance of timely sample collection for accurate diagnosis.
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Background: Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility. This study aimed to evaluate the potential role of the FBN1 rs12916536 polymorphism in AIS development or severity and the variation in Cobb angle in relation to patient's characteristics.

Methods: DNA from 563 subjects (185 AIS patients and 378 controls) were genotyped using a validated TaqMan allelic discrimination assay.

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The main aims of this study were to compare the magnitude of inter-limb asymmetry (ILA) and the relation with self-reported knee function between maximal and explosive knee extensor strength outcomes in professional soccer players. Forty-six male soccer players completed different maximal isokinetic and isometric contractions of the knee extensors for the assessment of maximal strength (peak torque and maximal voluntary contraction (MVC) torque) and explosive strength (early, intermediate, late, and peak rate of torque development (RTD)). Self-reported knee function was assessed with the International Knee Documentation Committee (IKDC) and Lysholm knee scoring scales.

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This work shows that ZrO, used as a modifier of TiO, can be highly effective as a co-catalyst in the photoelectrocatalytic degradation of dibutyl phthalate (DBP). The monoclinic phase of ZrO was easily obtained by chemical deposition on TiO nanotubes (E ~3.06 eV), increasing the occurrence of hydroxyl groups and acidity on the surface of the material, as observed by electrophoretic mobility measurements.

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Photocatalytic activation of persulfate (PS) is recently emerged as an energy-efficient and environmentally sustainable approach for pollutants degradation, which enables to leverage the strengths of low-cost solar energy and heterogeneous catalysis. Herein, we investigated the photocatalytic decomposition of reactive red 120 (RR120) dye using PS-activated FeO nanoparticles and elucidated the effect of their facets, α-FeO (001), β-FeO (100), and γ-FeO (111). β-FeO not only boosted the charge carrier separation but also provided more active sites for PS activation resulting in 6- and 3.

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