Publications by authors named "Nathalia Gomes"

Context: The role of plasma metanephrine in adrenal venous sampling (AVS) for assessing lateralization in primary aldosteronism (PA) requires further clarification.

Objective: To evaluate the performance of plasma metanephrine in AVS for determining aldosterone lateralization in PA, with or without mild autonomous cortisol secretion (MACS).

Methods: Sequential AVS under cosyntropin stimulation was conducted in 58 consecutive patients with PA and indication for AVS.

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Objective: Germline and somatic drivers are identified in 30% and 40% of pheochromocytomas and paragangliomas (PPGLs), respectively. In this study, we investigated the genetic landscape of PPGLs in a Brazilian cohort.

Methods: We studied 182 index patients with PPGLs (116 females and 66 males), comprising 118 pheochromocytoma and 70 paraganglioma cases.

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Background: Glycolic acid (GA) has been tested as enamel and dentin etchant, and final irrigant for smear layer removal. This study evaluated the effects of GA and ultrasonic activation (US) on smear layer removal, dentin penetration, dentin structure and bond strength of the root dentin filling material.

Material And Methods: The root canals of 210 teeth were distributed into four test groups: smear layer removal (N=50), dentin penetration (N=50), dentin structure (N=10) and bond strength (N=100).

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Diabetes is a complex disease, despite the availability of numerous treatments, its progression and complications can only be mitigated and managed to a certain extent. After the onset, diabetes cannot be reversed. Its global expansion makes it challenging for governments to control the considerable costs of treating people with diabetes.

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Article Synopsis
  • - The study analyzed peripheral T-cell lymphoma, not otherwise specified (PTCL NOS) cases that impacted the oral cavity, reviewing both pathology files and existing literature about the condition.
  • - Five cases were investigated, primarily affecting middle-aged males and females, with symptoms like destructive lesions in the palate, gingiva, and maxillary bone leading to severe health issues.
  • - PTCL NOS in the oral cavity is rare, aggressive, and typically has a poor prognosis, with four out of five patients succumbing to the disease during follow-up.
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Objective: Primary biliary cholangitis is a chronic and progressive autoimmune liver disease, whose prognosis can be improved by normalizing alkaline phosphatase and bilirubin. While ursodeoxycholic acid (UDCA) is first line standard of care, approximately 40 % of patients exhibit incomplete response. We aimed to identify prognostic markers for deep response to UDCA therapy at presentation.

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Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and incurable disease. Sporadic (sALS) accounts for ninety percent of ALS cases, while familial ALS (fALS) accounts for around fifteen percent. Reports have identified over 30 different forms of familial ALS.

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For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated in only few reports, and intraoperative radiofrequency ablation (RFA) of locally invasive primary PPGLs has not been reported. We presented the case of a 31-year-old man who had a 9-cm functioning unresectable PPGL. He was treated with 13 cycles of cytotoxic chemotherapy without objective tumor response, according to the Response Evaluation Criteria in Solid Tumors (RECIST).

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Background: Ursodeoxycholic acid (UDCA) is the standard treatment for primary biliary cholangitis (PBC), but a significant proportion of patients do not respond adequately, leading to increased risk of adverse outcomes. This study aims to develop a new and straightforward predictive score to identify PBC patients likely to achieve a complete response to UDCA.

Methods: A logistic regression analysis was conducted using a derivation cohort of PBC patients to identify pre-treatment variables associated with response to UDCA.

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The synergy between eco-friendly biopolymeric films and printed devices leads to the production of plant-wearable sensors for decentralized analysis of pesticides in precision agriculture and food safety. Herein, a simple method for fabrication of flexible, and sustainable sensors printed on cellulose acetate (CA) substrates has been demonstrated to detect carbendazim and paraquat in agricultural, water and food samples. The biodegradable CA substrates were made by casting method while the full electrochemical system of three electrodes was deposited by screen-printing technique (SPE) to produce plant-wearable sensors.

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Article Synopsis
  • Cytogenomic methods, particularly SNP array analysis, have been evaluated for their effectiveness in diagnosing syndromic disorders/differences in sexual development (DSD) among Brazilian patients with previously unknown causes.
  • The study included 22 patients and identified specific genetic deletions and duplications that correlated with syndromic features and genital atypia in several individuals.
  • Overall, SNP array analysis successfully determined the molecular etiology in 40% of patients with 46,XX DSD and 17.6% of those with 46,XY DSD, showcasing its potential in clinical settings.
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  • PBC and AIH/PBC are linked to an increased risk of hepatocellular carcinoma (HCC) and extra-hepatic malignancy (EHM), prompting a study to identify cancer risk factors in these patients.
  • The study analyzed data from 752 PBC patients, finding 87 cancer cases, including 20 HCC and 67 EHM, with notable associations between HCC and factors like cirrhosis, smoking, and certain medications.
  • Cirrhosis, obesity, and past azathioprine therapy were identified as independent risk factors for HCC, while Sjogren syndrome and psoriasis correlated with EHM; overall, EHM prevalence was higher in PBC patients compared to HCC.
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Fast, sensitive, simple, and cheap sensors are highly desirable to be applied in the health system because they improve point-of-care diagnostics, which can reduce the number of cases of infection or even deaths. In this context, here we report the development of a label-free genosensor using a screen-printed electrode modified with 2D-carbonylated graphitic carbon nitride (CN), poly(diallyldimethylammonium) chloride (PDDA), and glutathione-protected gold nanoparticles (GSH-AuNPs) for photoelectrochemical (PEC) detection of SARS-CoV-2. We also made use of Arduino and 3D printing to miniaturize the sensor device.

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Background: This systematic review aimed to investigate the radiological features of lymphomas and leukaemias affecting the jaws.

Methods: A systematic literature review was conducted using the electronic databases of PubMed, Web of Science and Scopus. Articles that contained sufficient radiographic examinations (periapical, panoramic or computed tomography images) for individual cases were included.

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Background: The mutated VAPBP56S (vesicle B associated membrane protein - P56S) protein has been described in a Brazilian family and classified as Amyotrophic Lateral Sclerosis type 8 (ALS8).

Objective: We aimed to study altered biochemical and immunological parameters in cells from ALS8 patients to identify possible biomarkers or therapeutic targets.

Methods: Wild-type VAPB, VAPBP56S, mTOR, proinflammatory cytokines, and oxidant/reducing levels in serum, leucocytes, and cellular lysate from ALS8 patients and health Controls were performed by ELISA, fluorimetry, and spectrophotometry.

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Paracetamol or acetaminophen is the main non-opioid analgesic recommended for mild pain by the World Health Organization (WHO) analgesic ladder. However, the high levels used of paracetamol are associated with the hepatotoxicity and nephrotoxicity caused by accumulation of toxic metabolites. The sensor is produced on a polyester substrate containing a full electrochemical device with working, auxiliary, and reference electrodes in which, guiding personalized medicine solutions are not reported.

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Article Synopsis
  • - The study focused on children with idiopathic short stature (ISS) to see if a multigene analysis could provide a genetic diagnosis, as many remain undiagnosed after extensive evaluations.
  • - Researchers analyzed 102 children with ISS using targeted panel sequencing, finding pathogenic or likely pathogenic genetic variants in 17 children, resulting in a diagnostic yield of 16.7%.
  • - The findings revealed that a multigene sequencing approach can identify genetic causes of short stature, potentially changing the classification of ISS cases and affecting clinical management, especially in those with more severe short stature.
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Background: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions.

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  • Most infants born with very low birth weight (VLBW) typically experience catch-up growth, but some do not, and the reasons for this are not fully understood.* -
  • In a study of 52 VLBW children, researchers investigated genetic factors, finding that 51.4% of those without an external cause had a genetic condition, often linked to syndromic features.* -
  • Silver-Russell syndrome was the most common diagnosis, and both groups (with and without external causes) showed various developmental and physical issues.*
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Background: Oxidative stress is associated with the pathogenesis of MS. Edaravone (EDV) has been proposed as a therapeutic resource for central nervous system diseases, and it was effective in reducing oxidative stress. However, the antioxidant mechanisms of EDV are poorly studied.

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  • A new immunosensor was created to detect the cancer biomarker p53 in cell lysates, using high sensitivity electrical impedance spectroscopy techniques.
  • The sensor was built on bacterial nanocellulose with a specific matrix of chitosan and chondroitin sulfate, achieving detection limits as low as 0.16 U/mL for p53.
  • To differentiate p53 samples from other substances, a supervised machine learning method was applied, utilizing decision trees to manage the complex data and enhance specificity.
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This paper reports the development of a low-cost (< US$ 0.03 per device) immunosensor based on gold-modified screen-printed carbon electrodes (SPCEs). As a proof of concept, the immunosensor was tested for a fast and sensitive determination of S proteins from both SARS-CoV and SARS-CoV-2, by a single disposable device.

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Context: Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with clinical/biochemical data for diagnosing 46,XY differences of sex development (DSD).

Objective: To analyze the contribution of phenotypic classification either alone or in association with genetic evaluations, mainly MPS, for diagnosing a large cohort of 46,XY DSD patients.

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Objective: The purpose of this multicenter retrospective study was to report the clinical and radiologic features of 92 glandular odontogenic cysts (GOCs) diagnosed over a 20-year period.

Study Design: Histologically confirmed cases of GOC were retrospectively reviewed from 4 oral pathology laboratories in South Africa and Brazil to categorize the clinical and radiologic spectrum of GOCs.

Results: The mean age of patients was 46 years (range 17-87) with a male-to-female ratio of 1.

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