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1.
Hum Mol Genet ; 31(6): 901-913, 2022 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-34617111

RESUMO

Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition is linked to epilepsy. Gephyrin (Geph) is the principal scaffolding protein at inhibitory synapses and is essential for postsynaptic clustering of glycine (GlyRs) and GABA type A receptors. Consequently, gephyrin is crucial for maintaining the relationship between excitation and inhibition in normal brain function and mutations in the gephyrin gene (GPHN) are associated with neurodevelopmental disorders and epilepsy. We identified bi-allelic variants in the GPHN gene, namely the missense mutation c.1264G > A and splice acceptor variant c.1315-2A > G, in a patient with developmental and epileptic encephalopathy. We demonstrate that the splice acceptor variant leads to nonsense-mediated mRNA decay. Furthermore, the missense variant (D422N) alters gephyrin structure, as examined by analytical size exclusion chromatography and circular dichroism-spectroscopy, thus leading to reduced receptor clustering and sensitivity towards calpain-mediated cleavage. In addition, both alterations contribute to an observed reduction of inhibitory signal transmission in neurons, which likely contributes to the pathological encephalopathy.


Assuntos
Encefalopatias , Epilepsia , Encefalopatias/metabolismo , Proteínas de Transporte/metabolismo , Epilepsia/metabolismo , Humanos , Proteínas de Membrana/metabolismo , Receptores de GABA-A/metabolismo , Sinapses/metabolismo
2.
Sensors (Basel) ; 24(12)2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38931674

RESUMO

The transition to a low-carbon economy is one of the main challenges of our time. In this context, solar energy, along with many other technologies, has been developed to optimize performance. For example, solar trackers follow the sun's path to increase the generation capacity of photovoltaic plants. However, several factors need consideration to further optimize this process. Important variables include the distance between panels, surface reflectivity, bifacial panels, and climate variations throughout the day. Thus, this paper proposes an artificial intelligence-based algorithm for solar trackers that takes all these factors into account-mainly weather variations and the distance between solar panels. The methodology can be replicated anywhere in the world, and its effectiveness has been validated in a real solar plant with bifacial panels located in northeastern Brazil. The algorithm achieved gains of up to 7.83% on a cloudy day and obtained an average energy gain of approximately 1.2% when compared to a commercial solar tracker algorithm.

3.
Pain Pract ; 24(5): 724-738, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38348644

RESUMO

BACKGROUD: Diabetic neuropathy (DN) is one of the most common complications of diabetes, affecting about half of individuals with the disease. Among the various symptoms of DN, the development of chronic pain stands out and manifests as exacerbated responses to sensorial stimuli. The conventional clinical treatments used for general neuropathy and associated painful symptoms, still brings uncomplete and unsatisfactory pain relief. Patients with neuropathic pain syndromes are heterogeneous. They present with a variety of sensory symptoms and pain qualities which difficult the correct diagnosis of sensory comorbidities and consequently, the appropriate chronic pain management. AIMS: Herein, we aimed to demonstrate the existence of different sensory profiles on diabetic patients by investigating epidemiological and clinical data on the symptomatology of a group of patients with DN. METHODS: This is a longitudinal and observational study, with a sample of 57 volunteers diagnosed with diabetes from outpatient day clinic of Hospital Universitário of the University of São Paulo-Brazil. After being invited and signed the Informed Consent Form (ICF), patients were submitted to clinical evaluation and filled out pain and quality of life questionnaires. They also performed quantitative sensory test (QST) and underwent skin biopsy for correlation with cutaneous neuropathology. RESULTS: Data demonstrate that 70% of the studied sample presented some type of pain, manifesting in a neuropathic or nociceptive way, what has a negative impact on the life of patients with DM. We also demonstrated a positive association between pain and anxiety and depression, in addition to pain catastrophic thoughts. Three distinct profiles were identified in the sample, separated according to the symptoms of pain: (i) subjects without pain; (ii) with mild or moderate pain; (iii) subjects with severe pain. We also identified through skin biopsy that diabetic patients presented advanced sensory impairment, as a consequence of the degeneration of the myelinated and unmyelinated peripheral fibers. This study characterized the painful symptoms and exteroceptive sensation profile in these diabetic patients, associated to a considerable level of sensory degeneration, indicating, and reinforcing the importance of the long-term clinical monitoring of individuals diagnosed with DM, regarding their symptom profiles and exteroceptive sensitivity.


Assuntos
Neuropatias Diabéticas , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Neuropatias Diabéticas/fisiopatologia , Neuropatias Diabéticas/diagnóstico , Estudos Longitudinais , Idoso , Medição da Dor/métodos , Adulto , Qualidade de Vida , Fenótipo , Neuralgia/fisiopatologia , Neuralgia/diagnóstico , Neuralgia/etiologia
4.
J Clin Immunol ; 43(7): 1496-1505, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37294518

RESUMO

PURPOSE: Myocardial injury is common in hypertensive patients with 2019 coronavirus disease (COVID-19). Immune dysregulation could be associated to cardiac injury in these patients, but the underlying mechanism has not been fully elucidated. METHODS: All patients were selected prospectively from a multicenter registry of adults hospitalized with confirmed COVID-19. Cases had hypertension and myocardial injury, defined by troponin levels above the 99th percentile upper reference limit, and controls were hypertensive patients with no myocardial injury. Biomarkers and immune cell subsets were quantified and compared between the two groups. A multiple logistic regression model was used to analyze the associations of clinical and immune variables with myocardial injury. RESULTS: The sample comprised 193 patients divided into two groups: 47 cases and 146 controls. Relative to controls, cases had lower total lymphocyte count, percentage of T lymphocytes, CD8+CD38+ mean fluorescence intensity (MFI), and percentage of CD8+ human leukocyte antigen DR isotope (HLA-DR)+ CD38-cells and higher percentage of natural killer lymphocytes, natural killer group 2A (NKG2A)+ MFI, percentage of CD8+CD38+cells, CD8+HLA-DR+MFI, CD8+NKG2A+MFI, and percentage of CD8+HLA-DR-CD38+cells. On multivariate regression, the CD8+HLA-DR+MFI, CD8+CD38+MFI, and total lymphocyte count were associated significantly with myocardial injury. CONCLUSION: Our findings suggest that lymphopenia, CD8+CD38+MFI, and CD8+HLA-DR+MFI are immune biomarkers of myocardial injury in hypertensive patients with COVID-19. The immune signature described here may aid in understanding the mechanisms underlying myocardial injury in these patients. The study data might open a new window for improvement in the treatment of hypertensive patients with COVID-19 and myocardial injury.


Assuntos
Linfócitos T CD8-Positivos , COVID-19 , Adulto , Humanos , ADP-Ribosil Ciclase 1 , COVID-19/complicações , Antígenos HLA-DR , Biomarcadores , Ativação Linfocitária
5.
Cardiology ; 148(3): 239-245, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37285810

RESUMO

BACKGROUND: Thyroid dysfunction is common in patients with heart failure (HF). Impaired conversion of free T4 (FT4) into free T3 (FT3) is thought to occur in these patients, decreasing the availability of FT3 and contributing to HF progression. In HF with preserved ejection fraction (HFpEF), it is not known whether changes in conversion of thyroid hormones (THs) are associated with clinical status and outcomes. OBJECTIVES: The objective of this study was to evaluate the association of FT3/FT4 ratio and TH with clinical, analytical, and echocardiographic parameters, as well as their prognostic impact in individuals with stable HFpEF. METHODS: We evaluated 74 HFpEF participants of the NETDiamond cohort without known thyroid disease. We performed regression modeling to study the associations of TH and FT3/FT4 ratio with clinical, anthropometric, analytical, and echocardiographic parameters, and survival analysis to evaluate associations with the composite of diuretic intensification, urgent HF visit, HF hospitalization, or cardiovascular death over a median follow-up of 2.8 years. RESULTS: The mean age was 73.7 years and 62% were men. The mean FT3/FT4 ratio was 2.63 (standard deviation: 0.43). Subjects with lower FT3/FT4 ratio were more likely to be obese and have atrial fibrillation. Lower FT3/FT4 ratio was associated with higher body fat (ß = -5.60 kg per FT3/FT4 unit, p = 0.034), higher pulmonary arterial systolic pressure (PASP) (ß = -10.26 mm Hg per FT3/FT4 unit, p = 0.002), and lower left ventricular ejection fraction (LVEF) (ß = 3.60% per FT3/FT4 unit, p = 0.008). Lower FT3/FT4 ratio was associated with higher risk for the composite HF outcome (HR = 2.50, 95% CI: 1.04-5.88, per 1-unit decrease in FT3/FT4, p = 0.041). CONCLUSIONS: In patients with HFpEF, lower FT3/FT4 ratio was associated with higher body fat, higher PASP, and lower LVEF. Lower FT3/FT4 predicted a higher risk of diuretic intensification, urgent HF visits, HF hospitalization, or cardiovascular death. These findings suggest that decreased FT4 to FT3 conversion might be a mechanism associated with HFpEF progression.


Assuntos
Insuficiência Cardíaca , Tri-Iodotironina , Masculino , Humanos , Idoso , Feminino , Tiroxina , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia
6.
Genet Sel Evol ; 55(1): 88, 2023 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-38062367

RESUMO

BACKGROUND: Intense selection of modern pig breeds has resulted in genetic improvement of production traits while the performance of local pig breeds has remained lower. As local pig breeds have been bred in extensive systems, they have adapted to specific environmental conditions, resulting in a rich genotypic and phenotypic diversity. This study is based on European local pig breeds that have been genetically characterized using DNA-pool sequencing data and phenotypically characterized using breed level phenotypes related to stature, fatness, growth, and reproductive performance traits. These data were analyzed using a dedicated approach to detect signatures of selection linked to phenotypic traits in order to uncover potential candidate genes that may underlie adaptation to specific environments. RESULTS: Analysis of the genetic data of European pig breeds revealed four main axes of genetic variation represented by the Iberian and three modern breeds (i.e. Large White, Landrace, and Duroc). In addition, breeds clustered according to their geographical origin, for example French Gascon and Basque breeds, Italian Apulo Calabrese and Casertana breeds, Spanish Iberian, and Portuguese Alentejano breeds. Principal component analysis of the phenotypic data distinguished the larger and leaner breeds with better growth potential and reproductive performance from the smaller and fatter breeds with low growth and reproductive efficiency. Linking the signatures of selection with phenotype identified 16 significant genomic regions associated with stature, 24 with fatness, 2 with growth, and 192 with reproduction. Among them, several regions contained candidate genes with possible biological effects on stature, fatness, growth, and reproductive performance traits. For example, strong associations were found for stature in two regions containing, respectively, the ANXA4 and ANTXR1 genes, for fatness in a region containing the DNMT3A and POMC genes and for reproductive performance in a region containing the HSD17B7 gene. CONCLUSIONS: In this study on European local pig breeds, we used a dedicated approach for detecting signatures of selection that were supported by phenotypic data at the breed level to identify potential candidate genes that may have adapted to different living environments and production systems.


Assuntos
Genoma , Genômica , Suínos/genética , Animais , Fenótipo , Genótipo , Genômica/métodos , Análise de Sequência de DNA
7.
Drug Chem Toxicol ; 46(1): 104-112, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34906022

RESUMO

Amburana cearensis leaves have been used in folk medicine to treat respiratory diseases and inflammations. This study aimed to evaluate the biological potential of A. cearensis leaves by antioxidant and in vitro cytogenotoxic analyses of ethanolic crude extract (EE) and its fractions in healthy human cells. The EE was obtained by percolation, followed by fractionation using dichloromethane, cyclohexane, ethyl acetate (EtOAc), and methanol (MeOH) as organic solvents. Extract and all fractions were evaluated for their antioxidant potential by DPPH and reducing power tests. In vitro cytotoxic activity was determined in human peripheral blood mononuclear cells by MTT assay for the extract, EtOAc and MeOH fractions. In turn, the genotoxic activity was determined in human lymphocytes by the Cytokinesis Block Micronucleus assay only for the EtOAc fraction. Only EtOAc fraction was analyzed via gas chromatography coupled to mass spectrometry due to its higher biological activity. Considering the antioxidant potential, the EtOAc fraction was most effective in DPPH (EC50 43.37 µg/mL) and reducing power (EC50 89.80 µg/mL) assays. GC-MS analysis of the EtOAc fraction led to the identification of guaiacol, 2,3-dihydro-benzofuran, 2-methoxy-4-vinylphenol, isovanillic acid methyl ester, 4-hydroxybenzaldehyde, and 4-(ethoxymethyl)-phenol. The EE (400-1000 µg/mL), EtOAc (≤150 µg/mL) and MeOH (50 and 150-600 µg/mL) fractions were not cytotoxic by MTT test. Additionally, the EtOAc fraction (100-400 µg/mL) did not induce significant genotoxic damage. Concentrations of the EtOAc fraction with antioxidant activity showed no cytotoxicity, nor genotoxicity potential, indicating them as a nontoxic natural antioxidant source.


Assuntos
Antioxidantes , Fabaceae , Humanos , Antioxidantes/farmacologia , Antioxidantes/química , Extratos Vegetais/toxicidade , Extratos Vegetais/química , Leucócitos Mononucleares , Cromatografia Gasosa-Espectrometria de Massas
8.
J Vasc Bras ; 22: e20230014, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37576729

RESUMO

Background: Atherosclerosis risk factors can have different impacts on cardiovascular diseases and on the anatomical distribution of Peripheral Arterial Disease (PAD). Objectives: To study the influence of atherosclerosis risk factors on the anatomical distribution of PAD in patients with chronic limb-threatening ischemia (CLTI). Methods: We performed an observational, cross-sectional, and analytical study that included 476 hospitalized patients with CLTI due to PAD. We compared the presence of atherosclerosis risk factors (age, gender, diabetes mellitus, smoking, and hypertension) in patients with PAD involving three different anatomic areas (aortoiliac, femoropopliteal, and infrapopliteal). Multivariate analysis was performed to identify associations between atherosclerosis risk factors and PAD distribution. Results: The mean age of the 476 patients was 69 years, 249 (52%) were men, and 273 (57%) had diabetes. Seventy-four percent (353) had minor tissue loss. Multivariate analysis identified three risk factors associated with PAD anatomical distribution (gender, smoking, and DM). Women had a 2.7 (CI: 1.75-4.26) times greater chance of having femoropopliteal disease. Smokers had a 3.6-fold (CI: 1.54-8.30) greater risk of aortoiliac disease. Diabetic patients were 1.8 (CI: 1.04-3.19) times more likely to have isolated infrapopliteal occlusive disease. Conclusions: The study showed that gender, DM, and smoking impact on the anatomical distribution of PAD in patients with CLTI. Diabetic patients were more likely to have only infrapopliteal disease, women had a greater risk of femoropopliteal PAD, and smokers had a greater risk of aortoiliac occlusive disease.

9.
J Inherit Metab Dis ; 45(2): 169-182, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34741542

RESUMO

Isolated sulfite oxidase deficiency (ISOD) is a rare recessive and infantile lethal metabolic disorder, which is caused by functional loss of sulfite oxidase (SO) due to mutations of the SUOX gene. SO is a mitochondrially localized molybdenum cofactor (Moco)- and heme-dependent enzyme, which catalyzes the vital oxidation of toxic sulfite to sulfate. Accumulation of sulfite and sulfite-related metabolites such as S-sulfocysteine (SSC) are drivers of severe neurodegeneration leading to early childhood death in the majority of ISOD patients. Full functionality of SO is dependent on correct insertion of the heme cofactor and Moco, which is controlled by a highly orchestrated maturation process. This maturation involves the translation in the cytosol, import into the intermembrane space (IMS) of mitochondria, cleavage of the mitochondrial targeting sequence, and insertion of both cofactors. Moco insertion has proven as the crucial step in this maturation process, which enables the correct folding of the homodimer and traps SO in the IMS. Here, we report on a novel ISOD patient presented at 17 months of age carrying the homozygous mutation NM_001032386.2 (SUOX):c.1097G > A, which results in the expression of SO variant R366H. Our studies show that histidine substitution of Arg366, which is involved in coordination of the Moco-phosphate, causes a severe reduction in Moco insertion efficacy in vitro and in vivo. Expression of R366H in HEK SUOX-/- cells mimics the phenotype of patient's fibroblasts, representing a loss of SO expression and specific activity. Our studies disclose a general paradigm for a kinetic defect in Moco insertion into SO caused by residues involved in Moco coordination resulting in the case of R366H in an attenuated form of ISOD.


Assuntos
Metaloproteínas , Sulfito Oxidase , Erros Inatos do Metabolismo dos Aminoácidos , Pré-Escolar , Coenzimas/genética , Coenzimas/metabolismo , Heme/genética , Humanos , Metaloproteínas/metabolismo , Cofatores de Molibdênio , Pteridinas/metabolismo , Sulfito Oxidase/deficiência , Sulfito Oxidase/genética , Sulfitos
10.
Age Ageing ; 51(4)2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-35363254

RESUMO

BACKGROUND: A gap in evidence exists concerning the survival-benefit of neurohormonal blockade in older patients with chronic heart failure (HF). The purpose of our study was to investigate the neurohormonal modulation therapy in older HF patients. METHODS: We retrospectively analysed data on chronic HF patients with systolic dysfunction from January 2012 to May 2018 at a central tertiary academic hospital in Porto, Portugal. Very old (VO) patients were those ≥80 years. Endpoint under analysis: all-cause mortality; patients were followed until January 2021. The prognostic impact of beta-blockers (BBs) and renin-angiotensin system inhibitors (RASi) use was assessed with a Cox-regression analysis adjusting for confounders. RESULTS: We studied 934 patients, 65.5% male; 45.3% had ischemic HF. BBs were used in 92.2% and RASi in 83.5%; 255 (27.3%) were VO patients. VO more often presented co-morbidities, were more symptomatic, presented worse renal function and higher BNP levels. BB prescription was similar in VO and non-VO patients, however RASi were less used in VO: 74.9% versus 86.7%, respectively. During a median follow-up of 47 months, 479 (51.3%) patients died: 71.4% among VO versus 43.7% in non-VO. BBs increased survival both in non-VO and VO-multivariate adjusted HRs of 0.57 (95% CI: 0.38-0.85) and 0.59 (0.36-0.97), respectively. A survival-benefit was also observed with RASi-adjusted HR of 0.71 (0.50-1.01) and 0.59 (0.42-0.83) in non-VO and VO. CONCLUSIONS: VO patients with chronic HF with systolic dysfunction have a very ominous outcome. Neurohormonal modulation therapy appears to portend survival-benefit also in this particularly vulnerable subgroup of patients.


Assuntos
Insuficiência Cardíaca , Antagonistas Adrenérgicos beta/efeitos adversos , Idoso , Doença Crônica , Feminino , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/tratamento farmacológico , Humanos , Masculino , Prognóstico , Estudos Retrospectivos
11.
Sensors (Basel) ; 22(23)2022 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-36501831

RESUMO

As hydroenergetic losses are inherent to water supply systems, they are a frequent issue which water utilities deal with every day. The control of network pressure is essential to reducing these losses, providing a quality supply to consumers, saving electricity and preserving piping from excess pressure. However, to obtain these benefits, it is necessary to overcome some difficulties such as sensing the pressure of geographically distant consumer units and developing a control logic that is capable of making use of the data from these sensors and, at the same time, a good solution in terms of cost benefit. Therefore, this work has the purpose of developing a pressure monitoring and control system for water supply networks, using the ESP8266 microcontroller to collect data from pressure sensors for the integrated ScadaLTS supervisory system via the REST API. The modeling of the plant was developed using artificial neural networks together with fuzzy pressure control, both designed using the Python language. The proposed method was tested by considering a pumping station and two reference units located in the city of João Pessoa, Brazil, in which there was an excess of pressure in the supply network and low performance from the old controls, during the night period from 12:00 a.m. to 6:00 a.m. The field results estimated 2.9% energy saving in relation to the previous form of control and a guarantee that the pressure in the network was at a healthy level.


Assuntos
Lógica Fuzzy , Abastecimento de Água , Redes Neurais de Computação , Cidades , Água
12.
J Vasc Bras ; 21: e20210189, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35571520

RESUMO

A totally implantable venous access port (TIVAP) is used for chemotherapy administration. Venous port migration to the systemic circulation occurs in less than 1% of complications. The aim of this study is to describe a case of TIVAP migration to the hepatic vein. A 44-year-old female patient with breast cancer was prescribed neoadjuvant chemotherapy. A port-a-cath was surgically implanted for chemotherapy. During the port puncture procedure, blood returned normally when aspirated. When the port was first accessed and flushed with saline solution, swelling was observed at the port site and blood could no longer be aspirated. A chest radiography showed catheter embolization in the region of the hepatic vein. The catheter was retrieved using a snare technique (without complications) and the patient was discharged the next day. The care team should be alert to possible TIIVAP malfunction.

13.
J Proteome Res ; 20(9): 4610-4620, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34320313

RESUMO

High abundant protein depletion is a common strategy applied to increase analytical depth in global plasma proteomics experiment setups. The standard strategies for depletion of the highest abundant proteins currently rely on multiple-use HPLC columns or multiple-use spin columns. Here we evaluate the performance of single-use spin columns for plasma depletion and show that the single-use spin reduces handling time by allowing parallelization and is easily adapted to a nonspecialized lab environment without reducing the high plasma proteome coverage and reproducibility. In addition, we evaluate the effect of viral heat inactivation on the plasma proteome, an additional step in the plasma preparation workflow that allows the sample preparation of SARS-Cov2-infected samples to be performed in a BSL3 laboratory, and report the advantage of performing the heat inactivation postdepletion. We further show the possibility of expanding the use of the depletion column cross-species to macaque plasma samples. In conclusion, we report that single-use spin columns for high abundant protein depletion meet the requirements for reproducibly in in-depth plasma proteomics and can be applied on a common animal model while also reducing the sample handling time.


Assuntos
COVID-19 , Proteômica , Animais , Proteínas Sanguíneas , Humanos , Proteoma , RNA Viral , Reprodutibilidade dos Testes , SARS-CoV-2
14.
Hum Mol Genet ; 28(17): 2885-2899, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31127934

RESUMO

Sulfite oxidase (SO) is encoded by the nuclear SUOX gene and catalyzes the final step in cysteine catabolism thereby oxidizing sulfite to sulfate. Oxidation of sulfite is dependent on two cofactors within SO, a heme and the molybdenum cofactor (Moco), the latter forming the catalytic site of sulfite oxidation. SO localizes to the intermembrane space of mitochondria where both-pre-SO processing and cofactor insertion-are essential steps during SO maturation. Isolated SO deficiency (iSOD) is a rare inborn error of metabolism caused by mutations in the SUOX gene that lead to non-functional SO. ISOD is characterized by rapidly progressive neurodegeneration and death in early infancy. We diagnosed an iSOD patient with homozygous mutation of SUOX at c.1084G>A replacing Gly362 to serine. To understand the mechanism of disease, we expressed patient-derived G362S SO in Escherichia coli and surprisingly found full catalytic activity, while in patient fibroblasts no SO activity was detected, suggesting differences between bacterial and human expression. Moco reconstitution of apo-G362S SO was found to be approximately 90-fold reduced in comparison to apo-WT SO in vitro. In line, levels of SO-bound Moco in cells overexpressing G362S SO were significantly reduced compared to cells expressing WT SO providing evidence for compromised maturation of G362S SO in cellulo. Addition of molybdate to culture medium partially rescued impaired Moco binding of G362S SO and restored SO activity in patient fibroblasts. Thus, this study demonstrates the importance of the orchestrated maturation of SO and provides a first case of Moco-responsive iSOD.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Mitocôndrias/metabolismo , Sulfito Oxidase/deficiência , Sulfito Oxidase/metabolismo , Alelos , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Sequência de Aminoácidos , Biomarcadores , Catálise , Ativação Enzimática , Fibroblastos/metabolismo , Genótipo , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Modelos Moleculares , Mutação , Oxirredução , Conformação Proteica , Proteínas Recombinantes , Índice de Gravidade de Doença , Sulfito Oxidase/química , Sulfito Oxidase/genética
15.
J Toxicol Environ Health A ; 84(18): 743-760, 2021 09 17.
Artigo em Inglês | MEDLINE | ID: mdl-34120581

RESUMO

Jatropha mollissima is used in folk medicine as antimicrobial, antiparasitic, and larvicidal. However, few toxicogenetic studies have been carried out. Therefore, the aim of this study was to determine the phytochemical profile of ethanolic leaf extract of J. mollissima (EEJM) as well as potential cytotoxic, mutagenic, and antimutagenic properties. The EEJM was subjected to successive fractionation for the isolation of secondary metabolites, and five concentrations (0.01; 0.1; 1; 10 and 100 mg/ml) of extract were investigated using Allium cepa assay and the Somatic Mutation and Recombination (SMART) test. The mitotic index and % damage reduction were analyzed for A. cepa and the frequency of mutant hair for SMART. The presence of coumarins, alkaloids, flavonoids, saponins, and tannins was detected, while spinasterol and n-triacontane were the isolates identified for the first time for this species. EEJM did not exhibit cytotoxicity and was not mutagenic at 1 or 10 mg/ml using A. cepa and all concentrations of EEJM were not mutagenic in the SMART test. A cytoprotective effect was found at all concentrations. At 1 or 10 mg/ml EEJM exhibited antimutagenicity in A. cepa. In SMART, the protective effect was observed at 0.1 to 100 mg/ml EEJM. Our results demonstrate the important chemopreventive activity of EEJM, a desired quality in the search for natural anticarcinogenic compounds.


Assuntos
Jatropha/química , Testes de Mutagenicidade , Cebolas/efeitos dos fármacos , Compostos Fitoquímicos/farmacologia , Extratos Vegetais/farmacologia , Substâncias Protetoras/farmacologia , Relação Dose-Resposta a Droga , Compostos Fitoquímicos/química , Extratos Vegetais/química , Folhas de Planta/química
16.
Nano Lett ; 20(11): 7987-7994, 2020 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-32870693

RESUMO

Leveraging recent advances in electron energy monochromation and aberration correction, we record the spatially resolved infrared plasmon spectrum of individual tin-doped indium oxide nanocrystals using electron energy-loss spectroscopy (EELS). Both surface and bulk plasmon responses are measured as a function of tin doping concentration from 1-10 atomic percent. These results are compared to theoretical models, which elucidate the spectral detuning of the same surface plasmon resonance feature when measured from aloof and penetrating probe geometries. We additionally demonstrate a unique approach to retrieving the fundamental dielectric parameters of individual semiconductor nanocrystals via EELS. This method, devoid from ensemble averaging, illustrates the potential for electron-beam ellipsometry measurements on materials that cannot be prepared in bulk form or as thin films.

17.
Am J Orthod Dentofacial Orthop ; 160(6): 887-890, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34452787

RESUMO

Internal root resorption (IRR) is a pathologic process that occurs because of external stimuli that affect the pulp and result in the loss of dentinal tissue. The occurrence of IRR is considered relatively rare, and the etiology is not fully understood, although trauma is believed to be the main etiologic agent. The current study presented a case report of spontaneous remission of an IRR lesion diagnosed during orthodontic treatment. The lesion was characterized by a circular and delimited radiolucent image, located in the apical third of the root canal of the maxillary right lateral incisor diagnosed during orthodontic treatment. After the diagnosis, clinical and radiographic follow-up was performed without any intervention. The follow-up radiographic images showed loss of contour definition and reduction in the size of the lesion. At the end of orthodontic treatment, 27 months after diagnosis, the space of the lesion had been filled by tissue with similar radiopacity to the adjacent dentin, and the tooth did not change its color and response to mechanical and thermal stimuli. Eight years after the end of the treatment, the maxillary right lateral incisor still presented normal responses to vitality tests and color stability; therefore, it was impossible to notice the root canal space. The reported patient presents a possible behavior of the IRR characterized by spontaneous remission of the lesion. However, nonendodontic treatment after diagnosis should not be the routine therapy adopted for IRR because of the potential risk to the tooth.


Assuntos
Reabsorção da Raiz , Seguimentos , Humanos , Incisivo/diagnóstico por imagem , Remissão Espontânea , Tratamento do Canal Radicular , Reabsorção da Raiz/diagnóstico por imagem , Reabsorção da Raiz/etiologia
18.
Environ Geochem Health ; 43(4): 1583-1597, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32144520

RESUMO

The contamination of bodies of water by potentially hazardous elements has in recent decades become an environmental problem that poses serious risks to humans, fauna, flora and microbiota, compromising the quality of life of the present ecosystem. Therefore, effluents must be properly treated in a legally acceptable manner before their disposal in the environment. With this in mind, adsorption presents itself as an inexpensive efficient technique for the removal of potentially hazardous elements from effluents with excellent adsorption capacities when natural adsorbents are used. In this study, fava d'anta fodder was used in its crude and alkalinized form to remove Cu(II) and Pb(II) ions. Equilibrium studies were carried out using adsorption isotherms in batch systems with mono- and multi-elementary systems containing the two ions. The Langmuir and Freundlich models were applied to the isotherm studies, with the ions being better suited to the Langmuir model, with maximum adsorption capacities of 24.45 mg g-1 and 68.49 mg g-1 (crude form) and 11.12 mg g-1 and 35.34 mg g-1 (alkalinized form) in the mono-elementary system for Cu(II) and Pb(II) ions, respectively.


Assuntos
Cobre/isolamento & purificação , Fabaceae/química , Chumbo/isolamento & purificação , Poluentes Químicos da Água/isolamento & purificação , Purificação da Água/métodos , Adsorção , Ecossistema , Humanos , Concentração de Íons de Hidrogênio , Cinética , Qualidade de Vida , Águas Residuárias , Água
19.
Entropy (Basel) ; 23(12)2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34945921

RESUMO

Many regions around the globe are subjected to precipitation-data scarcity that often hinders the capacity of hydrological modeling. The entropy theory and the principle of maximum entropy can help hydrologists to extract useful information from the scarce data available. In this work, we propose a new method to assess sub-daily precipitation features such as duration and intensity based on daily precipitation using the principle of maximum entropy. Particularly in arid and semiarid regions, such sub-daily features are of central importance for modeling sediment transport and deposition. The obtained features were used as input to the SYPoME model (sediment yield using the principle of maximum entropy). The combined method was implemented in seven catchments in Northeast Brazil with drainage areas ranging from 10-3 to 10+2 km2 in assessing sediment yield and delivery ratio. The results show significant improvement when compared with conventional deterministic modeling, with Nash-Sutcliffe efficiency (NSE) of 0.96 and absolute error of 21% for our method against NSE of -4.49 and absolute error of 105% for the deterministic approach.

20.
Genet Sel Evol ; 52(1): 33, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32591011

RESUMO

BACKGROUND: Natural and artificial directional selection in cosmopolitan and autochthonous pig breeds and wild boars have shaped their genomes and resulted in a reservoir of animal genetic diversity. Signatures of selection are the result of these selection events that have contributed to the adaptation of breeds to different environments and production systems. In this study, we analysed the genome variability of 19 European autochthonous pig breeds (Alentejana, Bísara, Majorcan Black, Basque, Gascon, Apulo-Calabrese, Casertana, Cinta Senese, Mora Romagnola, Nero Siciliano, Sarda, Krskopolje pig, Black Slavonian, Turopolje, Moravka, Swallow-Bellied Mangalitsa, Schwäbisch-Hällisches Schwein, Lithuanian indigenous wattle and Lithuanian White old type) from nine countries, three European commercial breeds (Italian Large White, Italian Landrace and Italian Duroc), and European wild boars, by mining whole-genome sequencing data obtained by using a DNA-pool sequencing approach. Signatures of selection were identified by using a single-breed approach with two statistics [within-breed pooled heterozygosity (HP) and fixation index (FST)] and group-based FST approaches, which compare groups of breeds defined according to external traits and use/specialization/type. RESULTS: We detected more than 22 million single nucleotide polymorphisms (SNPs) across the 23 compared populations and identified 359 chromosome regions showing signatures of selection. These regions harbour genes that are already known or new genes that are under selection and relevant for the domestication process in this species, and that affect several morphological and physiological traits (e.g. coat colours and patterns, body size, number of vertebrae and teats, ear size and conformation, reproductive traits, growth and fat deposition traits). Wild boar related signatures of selection were detected across all the genome of several autochthonous breeds, which suggests that crossbreeding (accidental or deliberate) occurred with wild boars. CONCLUSIONS: Our findings provide a catalogue of genetic variants of many European pig populations and identify genome regions that can explain, at least in part, the phenotypic diversity of these genetic resources.


Assuntos
Técnicas de Genotipagem/métodos , Seleção Genética/genética , Suínos/genética , Aclimatação/genética , Adaptação Fisiológica/genética , Algoritmos , Animais , Cruzamento , Domesticação , Europa (Continente) , Feminino , Genoma/genética , Genômica/métodos , Genótipo , Masculino , Modelos Genéticos , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Sequenciamento Completo do Genoma/métodos
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