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1.
G3 (Bethesda) ; 14(2)2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-37950892

RESUMO

Myotonic dystrophy type 2 (DM2) is a genetic disease caused by expanded CCTG DNA repeats in the first intron of CNBP. The number of CCTG repeats in DM2 patients ranges from 75 to 11,000, yet little is known about the molecular mechanisms responsible for repeat expansions or contractions. We developed an experimental system in Saccharomyces cerevisiae that enables the selection of large-scale contractions of (CCTG)100 within the intron of a reporter gene and subsequent genetic analysis. Contractions exceeded 80 repeat units, causing the final repetitive tract to be well below the threshold for disease. We found that Rad51 and Rad52 are involved in these massive contractions, indicating a mechanism that uses homologous recombination. Srs2 helicase was shown previously to stabilize CTG, CAG, and CGG repeats. Loss of Srs2 did not significantly affect CCTG contraction rates in unperturbed conditions. In contrast, loss of the RecQ helicase Sgs1 resulted in a 6-fold decrease in contraction rate with specific evidence that helicase activity is required for large-scale contractions. Using a genetic assay to evaluate chromosome arm loss, we determined that CCTG and reverse complementary CAGG repeats elevate the rate of chromosomal fragility compared to a short-track control. Overall, our results demonstrate that the genetic control of CCTG repeat contractions is notably distinct among disease-causing microsatellite repeat sequences.


Assuntos
Distrofia Miotônica , Humanos , Distrofia Miotônica/genética , Reparo do DNA/genética , Repetições de Microssatélites/genética , Saccharomyces cerevisiae/genética , RecQ Helicases/genética
2.
PLoS Biol ; 21(12): e3002416, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38048319

RESUMO

Phages are one of the key ecological drivers of microbial community dynamics, function, and evolution. Despite their importance in bacterial ecology and evolutionary processes, phage genes are poorly characterized, hampering their usage in a variety of biotechnological applications. Methods to characterize such genes, even those critical to the phage life cycle, are labor intensive and are generally phage specific. Here, we develop a systematic gene essentiality mapping method scalable to new phage-host combinations that facilitate the identification of nonessential genes. As a proof of concept, we use an arrayed genome-wide CRISPR interference (CRISPRi) assay to map gene essentiality landscape in the canonical coliphages λ and P1. Results from a single panel of CRISPRi probes largely recapitulate the essential gene roster determined from decades of genetic analysis for lambda and provide new insights into essential and nonessential loci in P1. We present evidence of how CRISPRi polarity can lead to false positive gene essentiality assignments and recommend caution towards interpreting CRISPRi data on gene essentiality when applied to less studied phages. Finally, we show that we can engineer phages by inserting DNA barcodes into newly identified inessential regions, which will empower processes of identification, quantification, and tracking of phages in diverse applications.


Assuntos
Bacteriófagos , Bacteriófagos/genética , DNA , Genes Essenciais/genética
3.
Diagnostics (Basel) ; 13(16)2023 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-37627903

RESUMO

Continuous ultrasound is recognized for its thermal effect and use in the tissue repair process. However, there is controversy about its dosage and efficacy. This study used infrared thermography, a non-invasive technique, to measure the short-term thermal effect of 3 MHz continuous ultrasound vs. a placebo, referencing the intensity applied. It was a single-blind, randomized clinical trial of 60 healthy volunteers (19-24 years old) divided into three equal groups. Group 1:1 W/cm2 for 5 min; Group 2: 0.5 W/cm2 for 10 min; and Group 3: the placebo for 5 min. The temperature was recorded through five thermographic images per patient: pre- and post-application, 5, 10, and 15 min later. After statistical analysis, a more significant decrease in temperature (p<0.05 ) was observed in the placebo group compared with the remaining groups after the application of continuous ultrasound. Group 1 was the one that generated the highest significant thermal effect (p<0.001), with an increase of 3.05 °C at 15 min, compared with the other two groups. It is concluded that to generate a thermal effect in the muscle, intensities of ≥1 W/cm2 are required, since the dosage maintained a temperature increase for more than 5 min.

4.
Environ Res ; 237(Pt 2): 116965, 2023 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-37652221

RESUMO

OBJECTIVE: To investigate the specific and combined effects of personal concentrations of some per- and polyfluoroalkyl substances (PFAS), other persistent organic pollutants (POPs), and chemical elements -measured in individuals' blood several years before the pandemic- on the development of SARS-CoV-2 infection and COVID-19 disease in the general population. METHODS: We conducted a prospective cohort study in 240 individuals from the general population of Barcelona. PFAS, other POPs, and chemical elements were measured in plasma, serum, and whole blood samples, respectively, collected in 2016-2017. PFAS were analyzed by liquid chromatography-triple quadrupole mass spectrometry. SARS-CoV-2 infection was detected by rRT-PCR in nasopharyngeal swabs and/or antibody serology in blood samples collected in 2020-2021. RESULTS: No individual PFAS nor their mixtures were significantly associated with SARS-CoV-2 seropositivity or COVID-19 disease. Previously identified mixtures of POPs and elements (Porta et al., 2023) remained significantly associated with seropositivity and COVID-19 when adjusted for PFAS (all OR > 4 or p < 0.05). Nine chemicals comprised mixtures associated with COVID-19: thallium, ruthenium, lead, benzo[b]fluoranthene, DDD, other DDT-related compounds, manganese, tantalum, and aluminium. And nine chemicals comprised the mixtures more consistently associated with SARS-CoV-2 seropositivity: thallium, ruthenium, lead, benzo[b]fluoranthene, DDD, gold, and (protectively) selenium, indium, and iron. CONCLUSIONS: The PFAS studied were not associated with SARS-CoV-2 seropositivity or COVID-19. The results confirm the associations between personal blood concentrations of some POPs and chemical elements and the risk of COVID-19 and SARS-CoV-2 infection in what remains the only prospective and population-based cohort study on the topic. Mixtures of POPs and chemical elements may contribute to explain the heterogeneity in the risks of SARS-CoV-2 infection and COVID-19 in the general population.

5.
Surg Neurol Int ; 14: 258, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37560597

RESUMO

Background: The anterior wall of the cavernous sinus (CS) represents an important landmark for endoscopic surgery that although mentioned before, no precise anatomical boundaries have been described. We describe the anatomical landmarks that delimit the anterior wall of the CS, emphasizing its importance as a reference for accessing the CS through endoscopic approaches. Methods: Six adult cadaveric heads fixed with formaldehyde and injected with colored silicone were studied. In all the heads, an endonasal endoscopic approach to the sellar and parasellar regions was performed and the anatomy of the anterior wall of the CS was studied. Results: Four consistent anatomical landmarks that mark the limits of the anterior wall of the CS were found in all the specimens: anterosuperiorly, the lateral opticocarotid recess; posterosuperiorly, the medial opticocarotid recess; anteroinferiorly, the inferior part of the maxillary strut; and posteroinferiorly, the superolateral angle of the clival recess. Conclusion: It is of paramount importance to recognize the anatomical landmarks that define the limits of the anterior wall of the CS to achieve a safe access to this so complex region.

6.
Cureus ; 15(6): e39826, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37397644

RESUMO

Objectives Meningiomas (MNGs) are the most common intracranial tumors found in the adult population. While most intracranial MNGs may be surgically removed, a subset of patients remains ineligible for conventional treatment. This is either because of a lack of surgical access or due to atypical, anaplastic or invasive characteristics of the tumors. These patients may benefit from targeted therapies that focus on cell receptor expression. The aim of this study was to assess dopamine receptor (DR) and Ki-67 expression in the MGNs of patients treated with surgery in the Instituto Nacional de Neurología y Neurocirugía, Mexico. Materials and methods This study analyzed 23 patients with confirmed MNG diagnoses (10 female and 13 male (mean age: 44.5 years)) who had undergone surgical resection between 2010 and 2014 at our institution. In the collected samples, we performed analyses for Ki-67, Dopamine 1 and Dopamine 2 receptors' expression. Results For the markers Ki-67, DR-D1 and DR-D2, the mean percentual expressions were 18.9%, 23.02% and 8.33%. No significant correlation was found between the expressions of these receptors and the studied MNG characteristics. The expression index of Ki-67 showed a significant relation with mean age (p = 0.03) and prolactin levels (p = 0.02). Conclusions Samples showed varied expressions of the studied receptors. Despite the difference in expressions between the markers, more studies are needed to confirm the findings. In contrast to previous studies, we could not find any relationship between D2-R and tumor characteristics.

7.
Cureus ; 15(6): e40046, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37425507

RESUMO

Introduction Meningiomas have been described as slow-growing neoplasms with benign behavior derived from the connective tissue surrounding the brain and spinal cord. Meningiomas represent one-third of primary central nervous system (CNS) tumors. The World Health Organization (WHO) initially classified them into three groups based on their histopathological characteristics, recently incorporating molecular patterns. Small cohorts have been reported in Latin America compared to the international literature. Ignoring the epidemiology of meningiomas in this region and considering this limitation, we aim to study the epidemiology of meningiomas in our country, Mexico. Material and methods A historical cohort was carried out on 916 patients diagnosed with intracranial meningiomas from January 2008 to January 2021, considering sociodemographic, topographic, and histopathological characteristics. Results In this study, 69.4% (n=636) of patients were women with a mean overall age of 47.53 (SD=14.85) years; 79.6% (n=729) of the lesions were supratentorial with convexity meningiomas being the most prevalent at 32.6% (n=299). Histopathologically, transitional (45.7%) (n=419), meningothelial (22.1%) (n=202), and fibroblastic (16.7%) (n=153) meningiomas were the most frequent. We found significant differences between men and women in age (p=0.01), infra or supratentorial presentation (p<0.001), location of the lesion (p<0.001), and histopathological characteristics (p<0.001). Conclusions Our results are consistent with what has been reported; however, until now, it appears as the largest series reported in our country and Latin America.

8.
bioRxiv ; 2023 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-37461657

RESUMO

Myotonic Dystrophy Type 2 (DM2) is a genetic disease caused by expanded CCTG DNA repeats in the first intron of CNBP. The number of CCTG repeats in DM2 patients ranges from 75-11,000, yet little is known about the molecular mechanisms responsible for repeat expansions or contractions. We developed an experimental system in Saccharomyces cerevisiae that enables selection of large-scale contractions of (CCTG)100 within the intron of a reporter gene and subsequent genetic analysis. Contractions exceeded 80 repeat units, causing the final repetitive tract to be well below the threshold for disease. We found that Rad51 and Rad52 are required for these massive contractions, indicating a mechanism that involves homologous recombination. Srs2 helicase was shown previously to stabilize CTG, CAG, and CGG repeats. Loss of Srs2 did not significantly affect CCTG contraction rates in unperturbed conditions. In contrast, loss of the RecQ helicase Sgs1 resulted in a 6-fold decrease in contraction rate with specific evidence that helicase activity is required for large-scale contractions. Using a genetic assay to evaluate chromosome arm loss, we determined that CCTG and reverse complementary CAGG repeats elevate the rate of chromosomal fragility compared to a low-repeat control. Overall, our results demonstrate that the genetic control of CCTG repeat contractions is notably distinct among disease-causing microsatellite repeat sequences.

9.
Cureus ; 15(6): e40706, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37485158

RESUMO

Introduction Understanding when and how systemic complications can occur after an acute stroke is crucial. It is important to identify patients who are at higher risk for these complications. Early and effective treatment based on this knowledge can significantly improve patient outcomes. The objective of this study was to identify the risk factors associated with neurological and extra-neurological complications and mortality in stroke patients treated at a secondary care hospital. Methods Of a total of 170 patients diagnosed with hemorrhagic/ischemic stroke and transient cerebral ischemia at a secondary care hospital in Mexico, the records of 125 were reviewed and of these, 86 were included in the study. The study group comprised 86 adult patients (> 18 years of age) diagnosed with ischemic or hemorrhagic stroke or transient cerebral ischemia. Their demographics, clinical characteristics, in-hospital complications, and mortality were retrospectively analyzed.  Results Of the 86 patients examined, 34.9% experienced complications, regardless of the type of stroke. The most significant factor associated with mortality and complications during hospitalization in patients with stroke was previous diseases. Other factors that were linked to higher mortality were pre-existing medical conditions. The most common neurological complication among patients with stroke during hospitalization was intracranial hypertension (3.5%). As for extra-neurological complications, pressure ulcers and nosocomial pneumonia had an occurrence rate of 4.7%. Conclusions The main neurological complication during hospitalization of patients with stroke was intracranial hypertension, while the extra neurological complications were pressure ulcers and nosocomial pneumonia.

10.
Clin Neurol Neurosurg ; 233: 107904, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37499302

RESUMO

BACKGROUND: Glioblastoma is one of the most common brain tumors in adult populations, usually carrying a poor prognosis. While several studies have researched the impact of anti-angiogenic therapies, especially anti-VEFG treatments in glioblastoma, few have attempted to assess its progress using imaging studies. PURPOSE: We attempted to analyze whether relative cerebral blood volume (rCBV) from dynamic susceptibility-weighted contrast-enhanced MRI (DSC-MRI) could predict response in patients with glioblastoma undergoing Bevacizumab (BVZ) treatment. METHODS: We performed a retrospective study evaluating patients with recurrent glioblastoma receiving anti-angiogenic therapy with BVZ between 2012 and 2017 in our institution. Patients were scheduled for routine MRIs at baseline and first-month follow-up visits. Studies were processed for DSC-MRI, cT1, and FLAIR images, from which relative cerebral blood volume measurements were obtained. We assessed patient response using the Response Assessment in Neuro-Oncology (RANO) working group criteria and overall survival. RESULTS: 40 patients were included in the study and were classified as Bevacizumab responders and non-responders. The average rCBV before treatment was 4.5 for both groups, and average rCBV was 2.5 for responders and 5.4 for non-responders. ROC curve set a cutoff point of 3.7 for rCBV predictive of response to BVZ. Cox Multivariate analysis only showed rCBV as a predictive factor of OS. CONCLUSION: A statistically significant difference was found in rCBV between patients who responded and those who did not respond to BVZ treatment. rCBV may be a low-cost and effective marker to assess response to Bevacizumab treatment in GBM.

11.
Int J Cardiol Cardiovasc Risk Prev ; 18: 200192, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37427093

RESUMO

Introduction: Adverse cardiovascular events that arise in patients with established cardiovascular disease have prompted researchers to seek variables that can help estimate residual cardiovascular risk and aid in its reduction. In Latin-America, there is limited data assessing this type of risk. Objective: Estimate residual cardiovascular risk in ambulatory patients diagnosed with Chronic Coronary Syndrome (CCS) using the SMART-Score scale seen at five clinics in Nicaragua; determine the prevalence of patients that achieve a serum LDL level of <55 mg/dL; and describe the use of statins in these patients. Methods: A total of 145 participants previously diagnosed with CCS seen regularly in ambulatory visits were enrolled. A survey was completed, including epidemiological variables that allowed the calculation of a SMART score. Data analysis was conducted using SPSS version 21.0. Results: A 46.2% of participants were male, the average age was 68.7 years (11.4 SD), 91% had hypertension, 80.7% had a BMI ≥25. Under the SMART Score risk classification per Dorresteijn et al. the following risk distribution was found: 2.8% low, 31% moderate, 20% high, 13.1% very high and 33.1% extremely high. Per the risk classification of Kaasenbrood et al., 2.8% were in the 0-9% group, 31% in the 10-19%, 20% in 20-29% and 46.2% were in the ≥30% group. A 64.8% did not meet LDL goals. Conclusion: There is an inadequate control of cLDL levels in patients with CCS, and the appropriate available therapeutic resources aren't being utilized. It is important to achieve a proper control of lipid levels in order to improve cardiovascular outcomes, despite currently being far from these goals.

12.
Cureus ; 15(6): e39869, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37404423

RESUMO

Background and objective Invasive prolactinoma accounts for 1-5% of all prolactinomas. Its mass and compromise of the diencephalon and frontal and temporal lobes may result in a range of neuropsychiatric symptoms that are often missed during initial evaluations. Cabergoline is a dopaminergic agonist used as the first-line treatment for these patients; however, its effect on neuropsychiatric symptoms in this particular setting remains unexplored. In this study, our primary objective was to describe the epidemiology of neuropsychiatric comorbidities in Mexican patients with invasive prolactinomas. The secondary aim of the study was to describe how these comorbidities are modified by treatment with cabergoline, through follow-up with standardized clinical scales. Methods This was a retrospective analytic study. Data were pulled from clinical records and evaluations of patients at baseline and at six-month follow-ups.  Results A total of 10 patients were included in the study. None of them had any prior psychiatric diagnosis. At the initial evaluation, 70% were diagnosed with depression or anxiety. During follow-up, two patients developed neuropsychiatric symptoms; there was a significant reduction in tumor size but no difference was found in clinimetric scores for neuropsychiatric comorbidities. Conclusions Patients with giant prolactinomas may present with several neuropsychiatric symptoms throughout the course of their disease. Although there are several mechanisms involved, it is important to keep in mind that cabergoline may interfere with the dopaminergic pathways involved. This study was underpowered to determine the association but can serve as a pilot for further research on this topic.

13.
J Mol Model ; 29(7): 217, 2023 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-37380915

RESUMO

CONTEXT: Several descriptors from conceptual density functional theory (cDFT) and the quantum theory of atoms in molecules (QTAIM) were utilized in Random Forest (RF), LASSO, Ridge, Elastic Net (EN), and Support Vector Machines (SVM) methods to predict the toxicity (LD50) of sixty-two organothiophosphate compounds. The A-RF-G1 and A-RF-G2 models were obtained using the RF method, yielding statistically significant parameters with good performance, as indicated by R2 values for the training set (R2Train) and R2 values for the test set (R2Test), around 0.90. METHODS: The molecular structure of all organothiophosphates was optimized via the range-separated hybrid functional ωB97XD with the 6-311 + + G** basis set. Seven hundred and eighty-seven descriptors have been processed using a variety of machine learning algorithms: RF LASSO, Ridge, EN and SVM to generate a predictive model. The properties were obtained with Multiwfn, AIMALL and VMD programs. Docking simulations were performed by using AutoDock 4.2 and LigPlot + programs. All the calculations in this work are carried out in Gaussian 16 program package.

14.
J Therm Biol ; 115: 103601, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37327617

RESUMO

Patellofemoral Pain Syndrome is characterized by the presence of pain in the front area of the knee, which occurs when performing common activities such as climbing stairs, and bending the knees, among others. The objective of this research was to evaluate the detection capability of infrared thermography in patients with Patellofemoral Pain Syndrome, in the baseline state, as well as after the application of thermal stress. The investigation was conducted in 48 patients, who were subdivided into four groups (n = 12). Two subgroups were healthy patients and two with Patellofemoral Pain Syndrome. For the diagnosis of the syndrome, a manual evaluation was performed using the Zohlen test and Q angle measurement. Subsequently, cold stress was applied for 10 min to a healthy subgroup and an experimental subgroup. The remaining two subgroups were subjected to heat stress for 15 min. Thermographic images of the lower extremities were acquired at seven time points, at baseline, immediately after application of thermal stress and then every 3 min until 15 min were completed. It was observed that patients presented Patellofemoral Pain Syndrome bilaterally. After statistical analysis, it was found that there were no significant differences in baseline temperature between the groups. However, for heat stress, a higher temperature was observed in the group with Patellofemoral Pain Syndrome (p < 0.05) in the recovery period, and in the case of cold stress, only a lower temperature in the left knee immediately after the application. In conclusion, it is not possible to detect patellofemoral syndrome bilaterally in the baseline state by thermography and neither is it evident in cold stress. However, after heat stress, thermal recovery is lower for the PFPS group, so it would be susceptible to detection.


Assuntos
Síndrome da Dor Patelofemoral , Humanos , Síndrome da Dor Patelofemoral/diagnóstico , Temperatura Cutânea , Temperatura , Resposta ao Choque Frio , Joelho
15.
Int J Mol Sci ; 24(9)2023 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-37176055

RESUMO

The tumor microenvironment (TME) is constituted by a great diversity of highly dynamic cell populations, each of which contributes ligands, receptors, soluble proteins, mRNAs, and miRNAs, in order to regulate cellular activities within the TME and even promote processes such as angiogenesis or metastasis. Intravasated platelets (PLT) undergo changes in the TME that convert them into tumor-educated platelets (TEP), which supports the development of cancer, angiogenesis, and metastasis through the degranulation and release of biomolecules. Several authors have reported that the deregulation of PF4, VEGF, PDGF, ANG-1, WASF3, LAPTM4B, TPM3, and TAC1 genes participates in breast cancer progression, angiogenesis, and metastasis. The present work aimed to analyze the expression levels of this set of genes in tumor tissues and platelets derived from breast cancer patients by reverse transcription-quantitative polymerase chain reaction (RTqPCR) assays, in order to determine if there was an expression correlation between these sources and to take advantage of the new information to be used in possible diagnosis by liquid biopsy. Data from these assays showed that platelets and breast cancer tumors present similar expression levels of a subset of these genes' mRNAs, depending on the molecular subtype, comorbidities, and metastasis presence.


Assuntos
Neoplasias da Mama , MicroRNAs , Humanos , Feminino , Neoplasias da Mama/metabolismo , Plaquetas/metabolismo , MicroRNAs/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Expressão Gênica , Microambiente Tumoral/genética , Proteínas de Membrana/metabolismo , Proteínas Oncogênicas/genética , Família de Proteínas da Síndrome de Wiskott-Aldrich/metabolismo
16.
Rev Esp Salud Publica ; 972023 Apr 25.
Artigo em Espanhol | MEDLINE | ID: mdl-37114486

RESUMO

OBJECTIVE: The set of exposures to chemical substances and their role as a cause of disease gives rise to the concept of the exposome, partially made up of chemical pollutants to which an individual is exposed, which is why, unlike the genome, it is an a priori modifiable factor, its study being crucial in terms of Public Health. The population of the Canary Islands has been studied in terms of its levels of chemical contamination, with numerous biomonitoring studies, which makes it necessary to characterise its exposome and its consequences in terms of disease, in order to implement specific corrective measures to minimize the impact on its health. METHODS: A review of scientific literature (MEDLINE and Scopus) was made, according to PRISMA criteria and PICO methodology, to include studies on biomonitoring of pollutants, or evaluating the effect of pollutants on diseases prevalent in the archipelago. RESULTS: Twenty-five studies, both population-based and hospital-based, were selected. The results show that the exposome is made up of at least 110 compounds or elements, 99 of which appear to be present from the intrauterine stage. The presence of chlorinated pollutants and metals stands out, which seems to be related to the high incidence of metabolic diseases (diabetes), cardiovascular diseases (hypertension) and certain types of neoplasms (breast cancer). In short, the consequences are conditioned by the genome of the exposed population, reinforcing the enormous importance of genome-exposome interactions in the development of pathologies. CONCLUSIONS: Our results indicate that it is necessary to establish corrective measures on the sources of pollution that modify the exposome of this population.


OBJETIVO: El conjunto de exposiciones a sustancias químicas y su papel como causa de enfermedad da lugar al concepto de exposoma, conformado parcialmente por contaminantes químicos a los que un individuo se ve expuesto. Por ello, a diferencia del genoma, es un factor a priori modificable, siendo su estudio crucial en materia de Salud Pública. La población del archipiélago canario ha sido estudiada en cuanto a sus niveles de contaminación química, con numerosos estudios de biomonitorización, lo que hace necesario caracterizar el exposoma de ésta y sus consecuencias en términos de enfermedad, para poder implementar medidas correctoras específicas que minimicen el impacto en su salud. METODOS: Se realizó una revisión de la literatura científica (MEDLINE y Scopus) de acuerdo con los criterios PRISMA y siguiendo la metodología PICO, para incluir estudios de biomonitorización de contaminantes, o que evaluaran el efecto de éstos en enfermedades prevalentes en el archipiélago. RESULTADOS: Se seleccionaron veinticinco estudios, tanto de base poblacional como de base hospitalaria. Los resultados demuestran que el exposoma lo conforman, como mínimo, 110 compuestos o elementos, 99 de los cuales parecen estar presentes desde la etapa intrauterina. Destaca la presencia de contaminantes clorados y metales, lo que parece relacionarse con la alta incidencia de enfermedades metabólicas (diabetes), cardiovasculares (hipertensión) y ciertos tipos de neoplasias (cáncer de mama). Aunque tales consecuencias vienen condicionadas por el genoma de la población expuesta, reforzando la enorme importancia de las interacciones genoma-exposoma en el desarrollo de patologías. CONCLUSIONES: Nuestros resultados indican que es necesario establecer medidas correctoras sobre las fuentes de contaminación que modifiquen el exposoma de esta población.


Assuntos
Neoplasias da Mama , Doenças Cardiovasculares , Poluentes Ambientais , Expossoma , Humanos , Feminino , Espanha/epidemiologia , Poluentes Ambientais/toxicidade , Doenças Cardiovasculares/epidemiologia , Doenças Cardiovasculares/etiologia
17.
World Neurosurg ; 175: e593-e600, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37054951

RESUMO

BACKGROUND: The main treatments for hydrocephalus due to posterior fossa tumors are tumor resection with or without an external ventricular drain, ventriculoperitoneal shunt (VPS), and endoscopic third ventriculostomy. Although preoperative cerebrospinal fluid diversion by any of these techniques improves clinical outcomes, evidence comparing the efficacy of these techniques is scarce. Therefore, we aimed to retrospectively evaluate each treatment modality. METHODS: This single-center study analyzed 55 patients. Treatments were classified as successful (hydrocephalus resolution with a single surgical event) or failed and compared with a χ2 test. Kaplan-Meier curves and log-rank tests were employed. A Cox proportional hazard model was used to determine relevant covariates predicting outcomes. RESULTS: Mean patient age was 36.3 years, 43.4% of patients were men, and 50.9% of patients presented with uncompensated intracranial hypertension. Mean tumor volume was 33.4 cm3, and extent of resection was 90.85%. Tumor resection with or without an external ventricular drain was successful in 58.82% of cases, VPS was successful in 100%, and endoscopic third ventriculostomy was successful in 76.19% (P = 0.014). Mean follow-up time was 15.12 months. Log-rank test found statistically significant differences between survival curves of treatments (P = 0.016) favoring the VPS group. Postoperative surgical site hematoma was a significant covariate in the Cox model (hazard ratio = 17; 95% confidence ratio, 2.301-81.872; P = 0.004). CONCLUSIONS: This study favored VPS as the most reliable treatment of hydrocephalus due to posterior fossa tumors in adult patient; however, several factors influence clinical outcomes. We proposed an algorithm based on our findings and other authors' findings to facilitate the decision-making process.


Assuntos
Neoplasias Encefálicas , Hidrocefalia , Neoplasias Infratentoriais , Terceiro Ventrículo , Masculino , Humanos , Adulto , Feminino , Estudos Retrospectivos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/cirurgia , Neoplasias Encefálicas/cirurgia , Neoplasias Infratentoriais/complicações , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Infratentoriais/cirurgia , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Ventriculostomia/métodos , Derivação Ventriculoperitoneal/métodos , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia , Resultado do Tratamento
18.
Rev. esp. salud pública ; 97: e202304033, Abr. 2023. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-219802

RESUMO

Fundamentos: El conjunto de exposiciones a sustancias químicas y su papel como causa de enfermedad da lugar al conceptode exposoma, conformado parcialmente por contaminantes químicos a los que un individuo se ve expuesto. Por ello, a diferenciadel genoma, es un factora priori modificable, siendo su estudio crucial en materia de Salud Pública. La población del archipiélagocanario ha sido estudiada en cuanto a sus niveles de contaminación química, con numerosos estudios de biomonitorización, lo quehace necesario caracterizar el exposoma de ésta y sus consecuencias en términos de enfermedad, para poder implementar medidascorrectoras específicas que minimicen el impacto en su salud.Métodos: Se realizó una revisión de la literatura científica (MEDLINE yScopus) de acuerdo con los criterios PRISMA y siguiendo lametodología PICO, para incluir estudios de biomonitorización de contaminantes, o que evaluaran el efecto de éstos en enfermedadesprevalentes en el archipiélago.Resultados: Se seleccionaron veinticinco estudios, tanto de base poblacional como de base hospitalaria. Los resultados de-muestran que el exposoma lo conforman, como mínimo, 110 compuestos o elementos, 99 de los cuales parecen estar presentes desdela etapa intrauterina. Destaca la presencia de contaminantes clorados y metales, lo que parece relacionarse con la alta incidencia deenfermedades metabólicas (diabetes), cardiovasculares (hipertensión) y ciertos tipos de neoplasias (cáncer de mama). Aunque talesconsecuencias vienen condicionadas por el genoma de la población expuesta, reforzando la enorme importancia de las interaccionesgenoma-exposoma en el desarrollo de patologías.Concluiones: Nuestros resultados indican que es necesario establecer medidas correctoras sobre las fuentes de contamina-ción que modifiquen el exposoma de esta población.(AU)


Background: The set of exposures to chemical substances and their role as a cause of disease gives rise to the concept of theexposome, partially made up of chemical pollutants to which an individual is exposed, which is why, unlike the genome, it is an a priorimodifiable factor, its study being crucial in terms of Public Health. The population of the Canary Islands has been studied in terms ofits levels of chemical contamination, with numerous biomonitoring studies, which makes it necessary to characterise its exposomeand its consequences in terms of disease, in order to implement specific corrective measures to minimize the impact on its health.Methods: A review of scientific literature (MEDLINE and Scopus) was made, according to PRISMA criteria and PICO methodology, toinclude studies on biomonitoring of pollutants, or evaluating the effect of pollutants on diseases prevalent in the archipelago.Results: Twenty-five studies, both population-based and hospital-based, were selected. The results show that the exposome is madeup of at least 110 compounds or elements, 99 of which appear to be present from the intrauterine stage. The presence of chlorinated po-llutants and metals stands out, which seems to be related to the high incidence of metabolic diseases (diabetes), cardiovascular diseases(hypertension) and certain types of neoplasms (breast cancer). In short, the consequences are conditioned by the genome of the exposedpopulation, reinforcing the enormous importance of genome-exposome interactions in the development of pathologies.Conclusions: Our results indicate that it is necessary to establish corrective measures on the sources of pollution that modifythe exposome of this population.(AU)


Assuntos
Humanos , Contaminação Química , Neoplasias , Doenças Cardiovasculares , Doenças Metabólicas , Saúde Pública , Poluentes Químicos
19.
Environ Res ; 223: 115419, 2023 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-36740154

RESUMO

BACKGROUND: There is wide, largely unexplained heterogeneity in immunological and clinical responses to SARS-CoV-2 infection. Numerous environmental chemicals, such as persistent organic pollutants (POPs) and chemical elements (including some metals, essential trace elements, rare earth elements, and minority elements), are immunomodulatory and cause a range of adverse clinical events. There are no prospective studies on the effects of such substances on the incidence of SARS-CoV-2 infection and COVID-19. OBJECTIVE: To investigate the influence of blood concentrations of POPs and elements measured several years before the pandemic on the development of SARS-CoV-2 infection and COVID-19 in individuals from the general population. METHODS: We conducted a prospective cohort study in 154 individuals from the general population of Barcelona. POPs and elements were measured in blood samples collected in 2016-2017. SARS-CoV-2 infection was detected by rRT-PCR in nasopharyngeal swabs and/or by antibody serology using eighteen isotype-antigen combinations measured in blood samples collected in 2020-2021. We analyzed the associations between concentrations of the contaminants and SARS-CoV-2 infection and development of COVID-19, taking into account personal habits and living conditions during the pandemic. RESULTS: Several historically prevalent POPs, as well as arsenic, cadmium, mercury, and zinc, were not associated with COVID-19, nor with SARS-CoV-2 infection. However, DDE (adjusted OR = 5.0 [95% CI: 1.2-21]), lead (3.9 [1.0-15]), thallium (3.4 [1.0-11]), and ruthenium (5.0 [1.8-14]) were associated with COVID-19, as were tantalum, benzo(b)fluoranthene, DDD, and manganese. Thallium (3.8 [1.6-8.9]), and ruthenium (2.9 [1.3-6.7]) were associated with SARS-CoV-2 infection, and so were lead, gold, and (protectively) iron and selenium. We identified mixtures of up to five substances from several chemical groups, with all substances independently associated to the outcomes. CONCLUSIONS: Our results provide the first prospective and population-based evidence of an association between individual concentrations of some contaminants and COVID-19 and SARS-CoV-2 infection. POPs and elements may contribute to explain the heterogeneity in the development of SARS-CoV-2 infection and COVID-19 in the general population. If the associations are confirmed as causal, means are available to mitigate the corresponding risks.


Assuntos
COVID-19 , Poluentes Ambientais , Rutênio , Humanos , COVID-19/epidemiologia , Poluentes Orgânicos Persistentes , SARS-CoV-2 , Estudos Prospectivos , Tálio
20.
Sensors (Basel) ; 24(1)2023 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-38203013

RESUMO

Stress is a factor that affects many people today and is responsible for many of the causes of poor quality of life. For this reason, it is necessary to be able to determine whether a person is stressed or not. Therefore, it is necessary to develop tools that are non-invasive, innocuous, and easy to use. This paper describes a methodology for classifying stress in humans by automatically detecting facial regions of interest in thermal images using machine learning during a short Trier Social Stress Test. Five regions of interest, namely the nose, right cheek, left cheek, forehead, and chin, are automatically detected. The temperature of each of these regions is then extracted and used as input to a classifier, specifically a Support Vector Machine, which outputs three states: baseline, stressed, and relaxed. The proposal was developed and tested on thermal images of 25 participants who were subjected to a stress-inducing protocol followed by relaxation techniques. After testing the developed methodology, an accuracy of 95.4% and an error rate of 4.5% were obtained. The methodology proposed in this study allows the automatic classification of a person's stress state based on a thermal image of the face. This represents an innovative tool applicable to specialists. Furthermore, due to its robustness, it is also suitable for online applications.


Assuntos
Face , Qualidade de Vida , Humanos , Face/diagnóstico por imagem , Testa , Nariz , Aprendizado de Máquina
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