Publications by authors named "Ney P C Santos"

Article Synopsis
  • * Most genetic studies on drug responses have focused on European and North American populations, leaving a gap in understanding how these drugs affect Indigenous groups, particularly in the Amazon.
  • * This study found unique genetic variants in Amazonian Indigenous populations related to corticosteroid treatment, emphasizing the need for precision medicine tailored to their genetic makeup to improve treatment outcomes and reduce adverse effects.
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  • The study investigates the genetic factors linked to severe COVID-19, specifically focusing on hospitalized cases in admixed Americans.
  • Researchers conducted the largest genome-wide association study (GWAS) for COVID-19 hospitalization in this population, identifying four significant genetic associations, including two novel loci found in Latin Americans.
  • The findings highlight the importance of including diverse populations in genomic research, aiming to improve understanding of genetic risks associated with COVID-19 across different ethnic groups.
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COVID-19 is a systemic disease caused by the etiologic agent SARS-CoV-2, first reported in Hubei Province in Wuhan, China, in late 2019. The SARS-CoV-2 virus has evolved over time with distinct transmissibility subvariants from ancestral lineages. The clinical manifestations of the disease vary according to their severity and can range from asymptomatic to severe.

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Background: Female gynecological cancers represent a serious public health problem, with 1,398,601 new diagnoses and 671,875 deaths per year worldwide. Antipsychotics are often used in psychiatric disorders, including schizophrenia, bipolar disorder, and major depression. It is estimated that the prescription of these drugs is linked to 1,800 deaths a year in the United States, but their association with cancer remains controversial.

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  • Radiotherapy can negatively impact healthy tissues, leading to toxicities potentially linked to genetic factors.
  • Radiogenomics aims to tailor radiotherapy treatments by examining genetic profiles, particularly in under-researched populations like indigenous Amazonians.
  • The study identified 39 genetic variants in the indigenous population, including some potentially protective against treatment side effects, highlighting the need for personalized radiotherapy approaches.
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Background: Cyclin-dependent kinase 4/6 (CDK4/6) inhibitors are approved for advanced breast cancer combined with endocrine therapy (ET). The efficacy of CDK4/6 inhibitors plus ET in hormone estrogen-positive, human epidermal growth factor 2-negative (HR+/HER2-) early-stage breast cancer (esBC) is still to be confirmed.

Methods: We performed a systematic review and a meta-analysis to investigate the efficacy of CDK4/6i plus ET in esBC.

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Background: Acute Lymphoblastic Leukemia (ALL) is a neoplasm of the hematopoietic system characterized by a clonal expansion of abnormal lymphocyte precursor cells. ALL is the most common form of cancer in children, but despite advances in treatment, it can still be fatal. Ethnic differences influence survival rates, and genomic ancestry plays an important role, especially in mixed-race populations such as Latin America.

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  • * The research focused on the genomic profile of 64 Indigenous individuals, identifying high-impact genetic variants that suggest greater susceptibility to mercury exposure compared to global populations.
  • * As the first study of its kind, the findings aim to inform public policies by identifying at-risk populations through genomic analysis related to mercury metabolism.
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Breast cancer (BCa) is the most common cancer and leading cause of cancer death among women globally. This can be explained by the genetic factor of this disease. This article aims to correlate the epidemiological data, worldwide incidence, and mortality of BCa with the Single-Nucleotide Polymorphisms (SNPs) associated with the susceptibility and severity in different populations.

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Objective: Several studies point to antibacterial properties and beneficial effects of honey on scar tissue formation, which is a low-cost and easy-to-use option. This study aimed to compare honey versus a placebo for cicatrization and pain control of obstetric wounds, and determine if one is superior to the other, in terms of efficacy, through a meta-analysis.

Methods: We searched PubMed, Scopus, Cochrane Central Register of Controlled Trials, and Web of Science.

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Papillary subtypes of renal-cell carcinoma (pRCC) represent 10-15% of the cases and commonly have MET alterations. This systematic review and single-arm meta-analysis evaluated MET inhibitor therapy (METi) efficacy and safety in adults with confirmed advanced pRCC. The search strategy included PubMed, Web-of-science, Cochrane, and Scopus.

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Background: Paclitaxel and carboplatin is the standard chemotherapy for the treatment of advanced or recurrent endometrial cancer. However, the benefit of adding programmed cell death 1 (PD-1)/programmed death ligand 1 (PD-L1) inhibitors to chemotherapy is still unclear.

Method: We searched PubMed, Scopus, Cochrane, and Web of Science databases for randomized controlled trials that investigated PD-1/PD-L1 inhibitors plus carboplatin and paclitaxel compared with carboplatin and paclitaxel in primary advanced or recurrent endometrial cancer.

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Article Synopsis
  • Acute lymphoblastic leukemia (ALL) is the most common cancer in children, and certain genetic variants (SNVs) may influence how patients respond to treatment and experience side effects.
  • The study focused on 25 specific SNVs in genes related to microRNA in 77 patients from the Brazilian Amazon, utilizing the TaqMan OpenArray™ Genotyping System for analysis.
  • Results indicated some SNVs increased the risk of neurological and gastrointestinal toxicities, while others provided protection, highlighting the potential to use these genetic markers to better understand and manage treatment-related toxicities in ALL patients.
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Leprosy is a chronic neurodermatological disease caused by the bacillus . Recent studies show that SNPs in genes related to miRNAs have been associated with several diseases in different populations. This study aimed to evaluate the association of twenty-five SNPs in genes encoding miRNAs related to biological processes and immune response with susceptibility to leprosy and its polar forms paucibacillary and multibacillary in the Brazilian Amazon.

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A number of genomic variants related to native American ancestry may be associated with an increased risk of developing Acute Lymphoblastic Leukemia (ALL), which means that Latin American and hispanic populations from the New World may be relatively susceptible to this disease. However, there has not yet been any comprehensive investigation of the variants associated with susceptibility to ALL in traditional Amerindian populations from Brazilian Amazonia. We investigated the exomes of the 18 principal genes associated with susceptibility to ALL in samples of 64 Amerindians from this region, including cancer-free individuals and patients with ALL.

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Prostate cancer (PCa) incidence and mortality vary across territories and populations. This can be explained by the genetic factor of this disease. This article aims to correlate the epidemiological data, worldwide incidence, and mortality of PCa with single-nucleotide polymorphisms (SNPs) associated with the susceptibility and severity of this neoplasm in different populations.

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Article Synopsis
  • A genome-wide study involving nearly 12,000 COVID-19 positive cases in Spain identified significant genetic variants linked to hospitalization, with specific loci associated with males (3p21.31, 21q22.11) and females (9q21.32 near TLE1).
  • A second phase combined data with an additional cohort, revealing two new risk loci (9p13.3, 19q13.12) related to candidate genes AQP3 and ARHGAP33, and confirmed earlier findings in males for some loci.
  • The analysis highlighted genetic differences in COVID-19 severity between sexes and ages, with more pronounced heritability in males, particularly those over
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Cancer is a multifactorial group of diseases, being highly incident and one of the leading causes of death worldwide. In Brazil, there is a great variation in cancer incidence and impact among the different geographic regions, partly due to the genetic heterogeneity of the population in this country, composed mainly by European (EUR), Native American (NAM), African (AFR), and Asian (ASN) ancestries. Among different populations, genetic markers commonly present diverse allelic frequencies, but in admixed populations, such as the Brazilian population, data is still limited, which is an issue that might influence cancer incidence.

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Background: Tuberculosis (TB) is an infectious disease caused by the bacterium and represents an important global public health issue. Single-nucleotide polymorphisms and INDELs are common genetic variations that can be located in genes associated with immune response and, therefore, they may have direct implications over the phenotype of susceptibility to infections like tuberculosis. This study aimed to investigate the association between the 17 genetic polymorphisms and susceptibility to tuberculosis in a Brazilian population.

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Genetic factors associated with COVID-19 disease outcomes are poorly understood. This study aimed to associate genetic variants in the , , , , , , and genes with the risk of severe forms of COVID-19 in Amazonian Native Americans, and to compare the frequencies with continental populations. The study population was composed of 64 Amerindians from the Amazon region of northern Brazil.

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Genetic variations in have been associated with different pathologies in global literature, but there are no data regarding this gene in Native American populations. The Amazonian Native American populations have lower genetic diversity and are more different from other continental groups. We investigated 18 genetic variants in the gene in Amazonian indigenous and compared our results with the ones found in global populations, which were publicly available in the 1000 Genomes Project, gnmAD and ABraOM databases.

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Article Synopsis
  • Tuberculosis (TB) is a serious infection caused by the bacterium Mycobacterium tuberculosis (Mtb), with significant health risks linked to genetic differences in individuals.
  • This study focused on examining 26 specific genetic variants (SNPs) to see if they influence the likelihood of developing TB in the Amazon population, involving 178 participants.
  • Findings revealed that certain SNPs are linked to both increased and decreased risks of TB, suggesting a genetic component to how individuals might respond to this infection and potentially aiding in future diagnostic advancements.
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Autism spectrum disorder is a neurodevelopmental disorder, affecting one in 160 children worldwide. The causes of autism are still poorly understood, but research shows the relevance of genetic factors in its pathophysiology, including the , , and genes. Information about the genetic influence on various diseases, including autism, in the Amerindian population from Amazon, is still scarce.

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Background: Sarcopenia is a disease characterized by progressive reduction in muscle mass and strength or function. Although it is known that sarcopenia may be associated with environmental factors, studies suggest the identification of genes related to skeletal muscle maintenance that explain the susceptibility to the disease.

Objective: To analyze the influence of gene polymorphism on susceptibility to sarcopenia in the elderly.

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  • Fluoropyrimidines are commonly used cancer drugs but have significant toxicity, and this study examined genetic variations in patients treated with these drugs in the Brazilian Amazon.
  • The research involved 216 patients with gastrointestinal cancers, analyzing 33 gene polymorphisms and using advanced genotyping technology to assess ancestry and potential toxicity risks.
  • Four specific genetic polymorphisms (in the ABCC4, FPGS, SLC29A1, and MTHFR genes) were identified as significant predictors of toxicity, highlighting the importance of personalized medicine in this unique population.
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