Publications by authors named "Paris F"

Article Synopsis
  • Inborn errors of immunity (IEI) involve various disorders that can be hard to diagnose early, as shown in a Brazilian patient with severe combined immunodeficiency (SCID) diagnosed at 6 months old due to multiple infections.
  • After undergoing hematopoietic stem cell transplantation (HSCT), the patient experienced recurrent infections and tested positive for SARS-CoV-2 multiple times over six months.
  • Whole exome sequencing revealed a damaging genetic variant in the Janus Kinase 3 (JAK3) gene, suggesting its role in disrupting protein function and contributing to SCID's pathogenesis.
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  • The study explores the interaction between mesenchymal stem cells (MSCs) and glioblastoma (GBM) using a 3D co-culture model, aiming to better mimic the tumor microenvironment.
  • Using conditioned medium from GBM cultures, MSCs exhibited characteristics similar to cancer-associated fibroblasts (CAFs) and were analyzed for their response to standard GBM therapies through transcriptomic and epigenetic methods.
  • The results highlighted significant changes in gene expression due to treatment, identifying two new markers related to MSC-GBM interactions that correlate with patient survival outcomes in glioblastoma.
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  • FSH (follicle stimulating hormone) is crucial for fertility, ovarian function, and can cause reproductive disorders like OHSS and POI when variations occur in its receptor (FSHR).
  • A case study identified a patient with primary amenorrhea and delayed puberty who carried two deletions in the FSHR gene, leading to complete loss of function of both alleles.
  • The research highlights the complexity of genetic factors in reproductive health and suggests incorporating CNV (copy number variation) detection in diagnosing POI for improved patient care.
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Three-dimensional (3D) cell culture has become a consolidated method in the stem cell field, where mesenchymal stromal stem cells (MSCs) can be used to generate in vitro spheroid aggregates called MSC-Spheroids (MSph). MSph is a floating cluster of stem cells similar to those in literature are known as bone marrow-derived "mesenspheres". Even though MSC properties are shared by MSph, depending on the cell type and their tissue source, the morphology and degree of compaction of the MSph can be variable, creating limitations in such a cell model.

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Deciphering breast cancer treatment resistance remains hindered by the lack of models that can successfully capture the four-dimensional dynamics of the tumor microenvironment. Here, we show that microextrusion bioprinting can reproducibly generate distinct cancer and stromal compartments integrating cells relevant to human pathology. Our findings unveil the functional maturation of this millimeter-sized model, showcasing the development of a hypoxic cancer core and an increased surface proliferation.

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Background: Colorectal carcinoma (CRC) is one of the most frequently diagnosed forms of cancer worldwide. The (, ) and genes encode proteins that are important therapeutic targets for the treatment of CRC and, together with the mismatch repair (MMR) system, are closely related to patient prognosis and survival in advanced CRC. Here we evaluate the mutational profile and the frequency of mutations in the , and genes, along with the expression of MMR in advanced CRC, at a tertiary hospital in southern Brazil.

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In recent years, there has been a surge in the development of methods for cell segmentation and tracking, with initiatives like the Cell Tracking Challenge driving progress in the field. Most studies focus on regular cell population videos in which cells are segmented and followed, and parental relationships annotated. However, DNA damage induced by genotoxic drugs or ionizing radiation produces additional abnormal events since it leads to behaviors like abnormal cell divisions (resulting in a number of daughters different from two) and cell death.

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  • Glioblastoma (GBM) is a very aggressive brain tumor with treatment challenges due to its complex and varying characteristics; this study focuses on the metabolic features of Glioblastoma stem cells (GSC) that are crucial for tumor growth and resistance to therapies.
  • Researchers performed extensive analyses on brain tumor cultures and found that GSCs have unique glycolytic profiles compared to regular tumor cells, heavily relying on the enzyme pyruvate carboxylase (PC) for their survival and growth.
  • Inhibiting PC leads to GSC death, increases differentiation, and can restore sensitivity to the chemotherapy drug etoposide, indicating that targeting PC could be an effective strategy to combat therapy resistance in GBM.
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Advanced therapy medicinal products (ATMP) are complex medicines based on gene therapy, somatic cell therapy, and tissue engineering. These products are rapidly arising as novel and promising therapies for a wide range of different clinical applications. The process for the development of well-established ATMPs is challenging.

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  • Endocrine-disrupting chemicals, like TCDD, may play a role in increasing female-specific cancers in Western countries, particularly affecting reproductive health.
  • The study focused on how TCDD exposure alters the expression of small noncoding RNAs (sncRNAs) in KGN cells, examining both acute (3 hours) and chronic (72 hours) effects, and their implications for subsequent cell generations.
  • Results showed that TCDD exposure led to a significant alteration in sncRNA expression, with a downregulation of sncRNAs associated with cell growth and proliferation, and an upregulation of those linked to cancer, suggesting the potential for TCDD to cause long-term cancer-promoting effects across generations.
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  • * Recent decades have seen a rise in the number of transgender people, with potential contributing factors including biological, genetic, environmental, and cultural influences, though the exact cause remains unclear.
  • * A study on XY individuals exposed to the chemical diethylstilbestrol (DES) in utero found a notable prevalence of transgender identities among them, indicating that fetal exposure to xenoestrogens may impact male gender identity and behavior.
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Introduction: Next-generation sequencing (NGS) of Formalin-Fixed and Paraffin-Embedded (FFPE) specimens is routine in precision oncology practice. However, results are not always conclusive, and it is important to identify which factors may influence FFPE tumor sequencing success.

Materials And Methods: Here, we evaluated the influence of pre-analytical factors on 705 samples of non-small cell lung cancer specimens that underwent NGS testing.

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Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD.

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Purpose: Radiation-induced lung injury (RILI) is strongly associated with various clinical conditions and dosimetric parameters. Former studies have led to reducing radiotherapy (RT) doses to the lung and have favored the discontinuation of tamoxifen during RT. However, the monocentric design and variability of dosimetric parameters chosen have limited further improvement.

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Oxidative stress (OS) occurs when the production of reactive oxygen species (ROS) is not balanced by the body's antioxidant defense system. OS can profoundly affect cellular health and function. ROS can have a profound negative impact on cells that undergo a predestined and time-regulated process of proliferation or differentiation, such as perinatal stem cells.

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Kidney transplantation is a lifesaving procedure for patients with end-stage kidney disease (ESKD). Organs derived from donation after cardiac death (DCD) are constantly increasing; however, DCD often leads to ischaemia-reperfusion (IR) and Acute Kidney Injury (AKI) events. These phenomena increase kidney cell turnover to replace damaged cells, which are voided in urine.

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Variants of concern (VOCs) of SARS-CoV-2 are viral strains that have mutations associated with increased transmissibility and/or increased virulence, and their main mutations are in the receptor binding domain (RBD) region of the viral spike. This study aimed to characterize SARS-CoV-2 VOCs via Sanger sequencing of the RBD region and compare the results with data obtained via whole genome sequencing (WGS). Clinical samples (oro/nasopharyngeal) with positive RT-qPCR results for SARS-CoV-2 were used in this study.

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The neoplastic Hodgkin-Reed-Sternberg (HRS) cells in Hodgkin lymphoma (HL) represent only 1-10% of cells and are surrounded by an inflammatory microenvironment. The HL cytokine network is a key point for the proliferation of HRS cells and for the maintenance of an advantageous microenvironment for HRS survival. In the tumor microenvironment (TME), the fibroblasts are involved in crosstalk with HRS cells.

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Article Synopsis
  • Type 1 diabetes mellitus (T1DM) results from an autoimmune response that destroys insulin-producing cells, with current treatment relying on daily insulin injections.
  • Researchers are exploring stem cell therapy, specifically using 3D cell cultures to mimic natural conditions for potentially replacing these insulin-producing cells.
  • This study develops a co-culture spheroid of amniotic epithelial cells and Wharton's jelly mesenchymal stem cells, showing stability and viability in long-term cultures, indicating it could be used for regenerative medicine in T1DM.
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  • Diethylstilbestrol (DES) is a synthetic estrogen linked to adverse health effects in mothers, their children, and grandchildren due to its ability to cross the placenta and disrupt endocrine function.
  • A nationwide observational study analyzed data from 529 families of DES-treated women, focusing on pregnancy outcomes and birth weight variations across multiple generations.
  • Results showed that preterm birth rates increased significantly in children exposed to DES, but those born post-DES had a higher average birth weight compared to pre-DES neonates, with some slight increases in low birth weight among grandchildren of DES-exposed women.
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Background: With the progression of the Coronavirus disease pandemic, the number of mutations in the viral genome has increased, showing the adaptive evolution of severe acute respiratory syndrome coronavirus 2 in humans and intensification in transmissibility. Long-term infections also allow the development of viral diversity. In this study, we report the case of a child with severe combined immu presenting a prolonged severe acute respiratory syndrome coronavirus 2 infection.

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  • The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
  • Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
  • Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
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Human term placenta and other postpartum-derived biological tissues are promising sources of perinatal cells with unique stem cell properties. Among the massive current research on stem cells, one medical focus on easily available stem cells is to exploit them in the design of immunotherapy protocols, in particular for the treatment of chronic non-curable human diseases. Type 1 diabetes is characterized by autoimmune destruction of pancreatic beta cells and perinatal cells can be harnessed both to generate insulin-producing cells for beta cell replenishment and to regulate autoimmune mechanisms via immunomodulation capacity.

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Background: Fatigue is a common and disabling symptom after breast cancer (BC) treatment, significantly impacting patients' quality of life. We aimed to assess the impact of radiation therapy (RT) modalities on fatigue one year after treatment among patients with early-stage BC.

Methods: We used CANTO-RT, a subcohort of CANcer TOxicity (CANTO; NCT01993498), a multicentric nationwide prospective cohort of stages I-III BC treated from 2012 to 2017.

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