Publications by authors named "Carlos A Santos"

Article Synopsis
  • This study focuses on patients with early-onset breast cancer and familial cancer history from the Metropolitan Region of Curitiba, Brazil, aiming to explore breast cancer-related gene variants.
  • A total of 12 patients underwent comprehensive next-generation sequencing, resulting in the identification of two pathogenic variants and one candidate pathogenic variant linked to breast cancer.
  • The study highlights a novel variant, BRCA2 c.3482dup, and finds that the prevalence of pathogenic variants in this cohort aligns with existing literature, with all library preparation methods proving effective for variant detection.
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Background Current literature suggests that anywhere from 2.9-27% of renal transplant recipients (RTR) will develop recurrent urinary tract infections (UTIs) (≥2 UTIs over six months or ≥3 UTIs over 12 months). Recurrent UTIs are of particular importance to RTR given its increased risk for allograft fibrosis and overall patient survival.

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In this article, we delineate a loosely selected cohort comprising patients with a history of early-onset breast cancer and/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer-related gene variants in a population from a micro-region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people.

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Background: Endovascular treatments for thoracic aortic diseases have been adopted rapidly, and long-term studies are relevant for durability evaluation.

Objective: To evaluate the long-term results of a prospective observational study of endovascular treatment in patients with thoracic aortic diseases who underwent percutaneous implantation of self-expandable endoprostheses.

Methods: Procedural success was defined as the absence of endoleak into the aneurysm or dissection-induced false lumen, no migration, and no conversion to open surgery.

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Next generation sequencing (NGS) is a technology that broadens the horizon of knowledge of several somatic pathologies, especially in oncological and oncohematological pathology. In the case of NHL, the understanding of the mechanisms of tumorigenesis, tumor proliferation and the identification of genetic markers specific to different lymphoma subtypes led to more accurate classification and diagnosis. Similarly, the data obtained through NGS allowed the identification of recurrent somatic mutations that can serve as therapeutic targets that can be inhibited and thus reducing the rate of resistant cases.

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The HIV latent viral reservoir (LVR) remains a major challenge in the effort to find a cure for HIV. There is interest in lymphocyte-depleting agents, used in solid organ and bone marrow transplantation to reduce the LVR. This study evaluated the LVR and T cell receptor repertoire in HIV-infected kidney transplant recipients using intact proviral DNA assay and T cell receptor sequencing in patients receiving lymphocyte-depleting or lymphocyte-nondepleting immunosuppression induction therapy.

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Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysregulation of cytoplasmic glycogen metabolism, are suspected to modulate the disease course. In this study, performed in mice and patient biopsies, we found elevated protein levels of enzymes involved in glucose uptake and cytoplasmic glycogen synthesis in skeletal muscle from mice with Pompe disease, including glycogenin (GYG1), glycogen synthase (GYS1), glucose transporter 4 (GLUT4), glycogen branching enzyme 1 (GBE1), and UDP-glucose pyrophosphorylase (UGP2).

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Despite the advance of vaccination worldwide, epidemic waves caused by more transmissible and immune evasive genetic variants of SARS-CoV-2 have sustained the ongoing pandemic of COVID-19. Monitoring such variants is expensive, as it usually relies on whole-genome sequencing methods. Therefore, it is necessary to develop alternatives that could help identify samples from specific variants.

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The aim of the present study is to assess soil Cd and Pb contamination in kale (Brassica oleracea var. acephala) production sites in mountain agroecosystem, as well as its potential risk to human health. The study was carried out within 24 kale-production sites located in mountainous region of Rio de Janeiro (Brazil).

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SARS-CoV-2 currently represents a serious global public health problem. Non-pharmaceutical intervention measures (NPIs) have been widely adopted, and the testing strategy since the beginning of the infection is the most effective tool for tracking, isolating, and minimizing transmission. The high operating costs and the need for sophisticated instrumentation related to gold standard diagnostic for COVID-19, Reverse Transcription quantitative Polymerase Chain Reaction (RT-qPCR), have highlighted the urgency and importance of developing and applying new diagnostic techniques, especially in places with scarce resources.

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The current study was developed to evaluate agronomic efficiency and food security of isolated or simultaneous use of two residues-steel slag and fresh or composted poultry litter-in the cultivation of broccoli (Brassica oleracea var. italica). The composition and contribution of toxic and potentially toxic metals by different treatments and contents, translocation, and accumulation of Pb, Cd, Cu, Fe, Mn, and Zn in different plant organs were analyzed.

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Infection caused by the new coronavirus (SARS-CoV-2) has become a serious worldwide public health problem, and one of the most important strategies for its control is mass testing. Loop-mediated isothermal amplification (LAMP) has emerged as an important alternative to simplify the diagnostics of infectious diseases. In addition, an advantage of LAMP is that it allows for easy reading of the final result through visual detection.

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Purpose: Hamstrings surgical lengthening (HSL) has been frequently used for the treatment of flexed knee gait in cerebral palsy; however, recurrence of knee flexion deformity (KFD) and increase of anterior pelvic tilt (APT) were reported in a long-term follow-up.

Research Question: The aim of this study was to compare semitendinosus transfer to distal femur (STTX) and semitendinosus surgical lengthening (STL) regarding the reduction of KFD and the increase of APT after flexed knee gait treatment.

Methods: One hundred and eleven patients were evaluated and they were divided into two groups according to surgical procedures at knees: group A (65 patients/130 knees), including patients who received medial HSL as part of multilevel approach; group B (46 patients/92 knees), represented by patients who underwent orthopedic surgery including an STTX instead of STL.

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The aim of this study was to compare semitendinosus transfer to distal femur (STTX) to semitendinosus surgical lengthening (STL) regarding the increase of anterior pelvic tilt after flexed knee gait treatment. Thirty-nine patients were evaluated, and they were divided according surgical procedures at knees: STL group (22 patients/44 knees), which included patients who received medial hamstrings surgical lengthening as part of multilevel approach, and STTX group (17 patients/34 knees), which was represented by patients who underwent orthopedic surgery including a STTX instead of STL. In the present study, the mean anterior pelvic tilt increased in all groups after treatment and STTX was not effective to prevent it in a medium-term follow-up.

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The objective of this study was to assess the placental vasculature and microcotyledons in pregnant mares with chronic laminitis. Twenty-six pregnant mares were enrolled in the study, 13 had chronic laminitis (Laminitis Group) and 13 were healthy mares (Healthy Group). Arterial systolic pressure and heart rate were measured in the last 30 days of gestation.

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Article Synopsis
  • Non-Candida opportunistic yeasts, particularly Pseudozyma, are increasingly causing bloodstream infections (BSIs) in people with weakened immune systems, like stem cell transplant (SCT) recipients.
  • The first known case of Pseudozyma BSI in a SCT recipient exhibited skin involvement, challenging previous understandings, and the patient was successfully treated after failing to respond to standard echinocandin therapy like micafungin.
  • A review of SCT recipients over 15 years found additional cases of non-Candida yeast BSIs, highlighting the need for clinicians to be alert to the possibility of these resistant fungi in patients receiving echinocandin medications.
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Objective: To test the association between diabetes and tuberculosis.

Methods: It is a case-control study, matched by age and sex. We included 323 new cases of tuberculosis with positive results for bacilloscopy.

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We present a case of a 41-year-old female with deep vein thrombosis after abdominal surgery. The patient quickly developed severe pulmonary embolism and stroke representative of paradoxical embolism. Echocardiography showed a thrombus straddling a patent foramen ovale, which was confirmed intraoperatively.

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Background: Staphylococcus lugdunensis is a coagulase-negative staphylococcus with similar virulence characteristics as Staphylococcus aureus. Whether S. lugdunensis causes infective endocarditis (IE) in a similar proportion of cases as S.

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Cytomegalovirus (CMV), human herpes virus (HHV)-6, and HHV-7 are ubiquitous β-herpesviruses that can cause opportunistic infection and disease in kidney transplant recipients. Active CMV infection and disease are associated with acute allograft failure and death, and HHV-6 and HHV-7 replication are associated with CMV disease. CMV prevention strategies are used commonly after kidney transplantation, and include prophylaxis with antiviral medications and preemptive treatment upon the detection of asymptomatic viral replication in blood.

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Background: To assess the prevalence and factors associated with the occurrence of cracked nipples in the first month postpartum.

Methods: This was a cross-sectional study nested in a cohort of mothers living in Feira de Santana, state of Bahia, northeastern Brazil. Data from 1,243 mother-child dyads assessed both at the maternity ward and 30 days after delivery were analyzed.

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Unlabelled: Although some studies have examined the epidemiology of bloodstream infections after liver transplantation, they were based in single centers and did not identify bloodstream infections treated in other hospitals.

Methods: We retrospectively examined a cohort of 7912 adult liver transplant recipients from 24 transplant centers using 2004 to 2012 International Classification of Diseases, Ninth Revision, Clinical Modification billing data from 3 State Inpatient Databases, and identified bloodstream infections, inpatient death, and cumulative 1-year hospital costs. Multilevel Cox regression analyses were used to determine factors associated with bloodstream infections and death.

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