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1.
Semina cienc. biol. saude ; 45(2): 91-100, jul./dez. 2024. ilus; tab.
Artigo em Inglês | LILACS | ID: biblio-1562705

RESUMO

This study constitutes the first record of parasitism and associations between bat flies ectoparasite of the Streblidae family and bats (Chiroptera: Phyllostomidae) in the São Francisco Forest State Park (SFFSP). The bats were captured using mist nets set up at various points along the park's visitor trail. Following collection, the bats were inspected for ectoparasites, which when found were collected with metal tweezers and stored in vials with 70% alcohol to be identified later. The captured bats were subjected to morphometrics so that the information obtained could help identify which bat species was the host of the ectoparasite collected and then they were released. A total of 36 dipterans from the Streblidae family belonging to six species from four genera: Aspidoptera falcata Wenzel, 1976; Aspidoptera phyllostomatis (Perty, 1833); Megistopoda aranea (Coquillett, 1899); Megistopoda proxima (Séguy, 1926); Paratrichobius longicrus (Miranda Ribeiro, 1907) and Trichobius joblingiWenzel, 1966, infesting phyllostomids of four species: Artibeus lituratus (Olfers, 1818); Artibeus planirostris (Spix, 1823); Carollia perspicillata (Linneaus, 1758) and Sturnira lilium (E. Geoffroy, 1810). The most abundant species were Trichobius joblingi (38.89%) and Aspidoptera phyllostomatis(27.78%).


Este estudo constitui o primeiro registro de parasitismo e associações entre moscas ectoparasitas de morcegos da família Streblidae e morcegos (Chiroptera: Phyllostomidae) no Parque Estadual Floresta São Francisco (PEFSF). Os morcegos foram capturados usando redes de neblina instaladas em vários pontos ao longo da trilha de visitantes do parque. Após a coleta, os morcegos foram inspecionados em busca de ectoparasitas, que, quando encontrados, eram coletados com pinças metálicas e armazenados em frascos com álcool 70% para serem identificados posteriormente. Os morcegos capturados foram submetidos à morfometria para que as informações obtidas pudessem ajudar a identificar qual espécie de morcego era a hospedeira do ectoparasita coletado e, em seguida, foram liberados. Um total de 36 dípteros de Streblidae foram coletados, pertencentes a seis espécies de quatro gêneros: Aspidoptera falcata Wenzel, 1976; Aspidoptera phyllostomatis (Perty, 1833); Megistopoda aranea (Coquillett, 1899); Megistopoda proxima (Séguy, 1926); Paratrichobius longicrus (Miranda Ribeiro, 1907) e Trichobius joblingi Wenzel, 1966, infestando filostomídeos de quatro espécies: Artibeus lituratus(Olfers, 1818); Artibeus planirostris (Spix, 1823); Carollia perspicillata (Linneaus, 1758) e Sturnira lilium (E. Geoffroy, 1810). As espécies mais abundantes foram Trichobius joblingi (38,89%) e Aspidoptera phyllostomatis (27,78%).


Assuntos
Animais
2.
Implement Sci Commun ; 5(1): 106, 2024 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-39350292

RESUMO

BACKGROUND: Innovative models of care have the potential to improve the sustainability of health systems by improving patient and provider experiences and population outcomes while simultaneously reducing costs. Yet, it is challenging to recognize the distinctive points during research and quality improvement processes that contribute to sustainment of effective interventions. The business concept of an inflection point-the position on the curve of a trajectory where the progress in implementation of an intervention is accelerated or decelerated-may be useful to understand implementation and improve sustainability and ultimately sustainment of effective interventions. The purpose of this study was to retrospectively identify and describe strategic inflection points that accelerated the sustainability process and led to the sustainment of Alberta Family Integrated Care. METHODS: This qualitative study was conducted in Alberta, Canada and employed an interpretive description design. Purposively sampled documents (proposals, project management plans, reports to funders and sponsors, meeting minutes, and fidelity audit and feedback checklists) from the Alberta Family Integrated Care cluster randomized controlled trial and quality improvement project constituted data for this study. RESULTS: To accelerate sustainability in the research context, we identified (1) alignment with strategic priorities, (2) iterative, user-centered co-design, and (3) contextualization of implementation as strategic inflection points. To accelerate sustainability in the health system context, we identified (1) the learning health system, (2) enduring partnerships, (3) responsivity to societal and system change, (4) embedded governance, and (5) intentional integration into the health system as strategic inflection points. Capitalizing on these strategic inflection points led to sustainment of Alberta Family Integrated Care in the provincial health system. CONCLUSIONS: We identified key inflection points in the research and health system contexts that led to sustainment of Alberta Family Integrated Care. By anticipating, recognizing, and leveraging inflection points in the sustainability process, researchers may be able to accelerate implementation and achieve sustainment of multi-component interventions in complex systems. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02879799. Registration date: May 27, 2016. Protocol version: June 9, 2016; version 2. Protocol publication: https://doi.org/10.1186/s13063-017-2181-3 .

3.
Oral Oncol ; 159: 107048, 2024 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-39362026

RESUMO

OBJECTIVE: This systematic review evaluates the efficacy and morbidity of transnasal endoscopic nasopharyngectomy as a salvage treatment for advanced-stage recurrent nasopharyngeal carcinoma (rNPC). METHODS: Following PRISMA guidelines, we conducted a systematic search in Medline, Scopus, and PubMed, identifying studies on transnasal endoscopic nasopharyngectomy for rNPC. Inclusion criteria encompassed histologically confirmed rT3 and rT4 NPC patients previously treated with radiotherapy or chemoradiotherapy. Data on overall survival (OS), disease-free survival (DFS), and complications were extracted and analyzed. RESULTS: Nine studies, including a total of 429 patients, met the inclusion criteria. Five studies reported 2-year overall survival (OS) rates ranging from 34.6 % to 88.7 %. Three studies reported 3-year OS rates between 50 % and 63.5 %. Long-term 5-year survival varied widely from 0 % to 100 % across three studies. One study detailed 1-year disease-free survival (DFS) and OS at 93 % and 98 %, respectively. The pooled analysis included 429 patients with a median follow-up of 26.1 months. Complications were predominantly minor and transient. Major complications included necrosis, hemorrhage, cranial nerve palsy, and death. Advanced surgical techniques and pre-treatment measures, such as internal carotid artery embolization, improved resection outcomes and reduced complication rates. CONCLUSION: Transnasal endoscopic nasopharyngectomy emerges as a viable salvage option for advanced rNPC, offering favorable survival outcomes and manageable complication profiles. Future research should focus on refining surgical techniques and improving patient selection criteria to further enhance treatment efficacy.

4.
Chemosphere ; 366: 143505, 2024 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-39384136

RESUMO

In this study, heterostructures based on Bismuth molybdite/iron oxide (Bi2MoO6/Fe2O3) thin films were fabricated by a dip-coating technique using precursor solutions. The heterostructures were deposited on fluorine-doped tin oxide glass substrates. From a detailed characterization using X-ray diffraction and X-ray photoelectron spectroscopy, the formation of the orthorhombic phase for Bi2MoO6 and the co-existence of hematite and maghemite in Fe2O3 was demonstrated. Meanwhile, the field emission scanning electron microscopy cross-section images confirm the formation of well-defined Bi2MoO6 film under the Fe2O3 deposition. The optical band gap energies for the heterostructure obtained were estimated from the diffuse reflectance spectra and ranged from 2.3 to 3.5 eV. Photoluminescence analysis revealed an improved separation and faster transfer of photogenerated electrons and holes for the Bi2MoO6/Fe2O3 (Het) film. The best oxytetracycline (OTC) removal percentage through photoelectrocatalytic treatment was 96.85% using the Het. Besides, were carried out the variation of parameters which affect the OTC photoelectrocatalytic degradation as pH, potential applied, and scavenger assay. The 1O2 was the oxidant predominate, which attack the OTC ring to initiate and accelerate the degradation process. Based on the analysis of degradation intermediates and characteristics of Bi2MoO6/Fe2O3, possible degradation pathways and mechanisms of OTC were displayed. An enhancement of oxytetracycline degradation efficiency of Het fabricated compared to pristine oxides was achieved mainly due to avoid the charge recombination of photogenerated electron-hole pairs provided by Direct Z-scheme heterostructure. Finally, the Het fabricated represents a promising material for efficient and sustainable pharmaceutical removal applications.

5.
J Am Soc Nephrol ; 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39352759

RESUMO

BACKGROUND: Understanding the genetic basis of human diseases has become integral to drug development and precision medicine. Recent advancements have enabled the identification of molecular pathways driving diseases, leading to targeted treatment strategies. The increasing investment in rare diseases by the biotech industry underscores the importance of genetic evidence in drug discovery and approval processes. Here we studied a monogenic Mendelian kidney disease, TRPC6-associated podocytopathy (TRPC6-AP), to present its natural history, genetic spectrum, and clinicopathological associations in a large cohort of patients with causal variants in TRPC6, in order to help define the specific features of disease and further facilitate drug development and clinical trials design. METHODS: the study involved 64 individuals from 39 families with TRPC6 causal missense variants. Clinical data, including age of onset, laboratory results, response to treatment, kidney biopsy findings, and genetic information, were collected from multiple centers nationally and internationally. Exome or targeted sequencing was performed and variant classification was based on strict criteria. Structural and functional analyses of TRPC6 variants were conducted to understand their impact on protein function. In depth re-analysis of light and electron microscopy specimens for 9 available kidney biopsies was conducted to identify pathological features and correlates of TRPC6-AP. RESULTS: Large-scale sequencing data did not support causality for TRPC6 protein-truncating variants. We identified 21 unique TRPC6 missense variants, clustering in three distinct regions of the protein, and with different effects on TRPC6 3D protein structure. Kidney biopsy analysis revealed FSGS patterns of injury in most cases, along with distinctive podocyte features including diffuse foot process effacement and swollen cell bodies. The majority of patients presented in adolescence or early adulthood but with ample variation (average 22, SD ± 14 years), with frequent progression to kidney failure but with variability in time between presentation and ESKD. CONCLUSIONS: This study provides insights into the genetic spectrum, clinicopathological associations, and natural history of TRPC6-AP.

6.
IJID Reg ; 12: 100411, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39220203

RESUMO

The European Center for Disease Prevention and Control has reported 19 cases of severe echovirus 11 infections in neonates since 2022, nine of which were fatal. We report a new fatal neonatal case that occurred in a male twin for which we evaluated the respiratory and intestinal mucosal innate immune response.

7.
ChemSusChem ; : e202401787, 2024 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-39251397

RESUMO

Raw mixtures of Rare Earths Elements, REE, recovered by E-waste, were used as catalysts to promote the (stereoselective) synthesis of highly valuable compounds. Y2O3, the major species that is recovered by the E-waste, can be easily converted into the catalytically active Y(OTf)3 that is able to efficiently promote the Michael addition of indoles to benzylidene malonates and the stereoselective Diels-Alder cycloaddition between cyclopentadiene and 4-(S)-3 acryloyl 4-tert-butyl 2-oxazolidinone. Additionally, the raw mixtures were immobilized onto silica and used to construct packed reactors, resulting in values for Productivity and Space-Time Yields that were significantly higher than those of the corresponding batch conversions. Notably, the prepared cartridge employed in the model Michael reaction maintained its catalytic efficiency for more than 4 days of continuous running.

8.
J Chromatogr A ; 1735: 465331, 2024 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-39241403

RESUMO

Understanding the mechanism of toxicity of nanoparticles and their behavior in biological environments is crucial for designing materials with reduced side effects and improved performance. Among the factors influencing nanoparticle behavior in biological environments, the release and bioavailability of potentially toxic metal ions can alter equilibria and cause adverse effects. In this study, we applied two on-line Field-Flow Fractionation (FFF) strategies and compared the results with off-line benchmarking centrifugal ultrafiltration to assess a key descriptor, namely the solubility of zinc oxide (ZnO) nanoparticles. We found that, at the highest nanoparticle concentrations, the nanoparticle-ion ratio quickly reaches equilibrium, and the stability is not significantly affected by the separation technique. However, at lower concentrations, dynamic, non-equilibrium behavior occurs, and the results depend on the method used to separate the solid from the ionic fraction, where FFF yielded a more representative dissolution pattern. To support the (eco)toxicological profiling of the investigated nanoparticles, we generated experimental data on colloidal stability over typical (eco)toxicological assay durations. The Zeta Potential vs pH curves revealed two distinct scenarios typical of surfaces that have undergone significant modification, most likely due to pH-dependent dissolution and re-precipitation of surface groups. Finally, to enhance hazard assessment screening, we investigated ion-dependent toxicity and the effects of exposure to fresh water. Using an in vitro human skin model, we evaluated the cytotoxicity of fresh and aged ZnO nanoparticles (exposed for 72 h in M7), revealing time-dependent, dose-dependent, and nanoparticle-dependent cytotoxicity, with lower toxicity observed in the case of aged samples.


Assuntos
Óxido de Zinco , Óxido de Zinco/química , Óxido de Zinco/toxicidade , Humanos , Nanopartículas Metálicas/química , Nanopartículas Metálicas/toxicidade , Fracionamento por Campo e Fluxo/métodos , Solubilidade , Concentração de Íons de Hidrogênio , Ultrafiltração/métodos , Nanopartículas/química , Nanopartículas/toxicidade
9.
Vaccines (Basel) ; 12(9)2024 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-39340106

RESUMO

Underreporting is the main limitation of spontaneous reporting systems. This cohort-event monitoring study aims to examine the potential of short message service (SMS)-based surveillance compared to traditional surveillance systems. Using VigiVax software, parents of vaccinated children aged two years or younger, in the period March 2021-May 2022, received a single SMS inquiry about adverse events following immunization (AEFI). Responses were collected, validated by health operators and integrated with the information on electronic immunization registries. AEFI reports were automatically submitted to the Italian Pharmacovigilance system. Among 254,160 SMS messages sent, corresponding to 451,656 administered doses (AD), 71,643 responses were collected (28.2% response rate), and 21,231 of them (8.3%) reported AEFI. After a seriousness assessment based on clinical criteria, 50 reports (0.24%) were classified as serious. Among these, a causality assessment identified 31 reports at least potentially related to the vaccination (RR: 6.86/100,000 AD). Febrile seizures following MMRV (measles, mumps, rubella, varicella) vaccination accounted for 11 of these 31 cases, with an incidence of 32 per 100,000 AD. No fatal outcomes were reported. Our findings support the highly favorable risk profile of pediatric vaccinations and the possibility to improve spontaneous reporting through the integration of digital technologies.

10.
Cancer Immunol Res ; 12(10): 1311-1319, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39270036

RESUMO

Neutrophils are the primary myeloid cells that are recruited to inflamed tissues, and they are key players during colitis, being also present within the tumor microenvironment during the initiation and growth of colon cancer. Neutrophils fundamentally serve to protect the host against microorganism invasion, but during cancer development, they can become protumoral and lead to tumor initiation, growth, and eventually, metastasis-hence, playing a dichotomic role for the host. Protumoral neutrophils in cancer patients can be immunosuppressive and serve as markers for disease progression but their characteristics are not fully defined. In this review, we explore the current knowledge on how neutrophils in the gut fluctuate between an inflammatory or immunosuppressive state and how they contribute to tumor development. We describe neutrophils' antitumoral and protumoral effects during inflammatory bowel diseases and highlight their capacity to provoke the advent of inflammation-driven colorectal cancer. We present the functional ambivalence of the neutrophil populations within the colon tumor microenvironment, which can be potentially exploited to establish therapies that will prevent, or even reverse, inflammation-dependent colon cancer incidence in high-risk patients.


Assuntos
Neoplasias Associadas a Colite , Neutrófilos , Microambiente Tumoral , Humanos , Neutrófilos/imunologia , Neutrófilos/metabolismo , Neoplasias Associadas a Colite/imunologia , Neoplasias Associadas a Colite/patologia , Microambiente Tumoral/imunologia , Animais , Colite/imunologia , Colite/complicações
11.
ArXiv ; 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39279834

RESUMO

Background: Non-invasive simulations of coronary hemodynamics have improved clinical risk stratification and treatment outcomes for coronary artery disease, compared to relying on anatomical imaging alone. However, simulations typically use empirical approaches to distribute total coronary flow amongst the arteries in the coronary tree, which ignores patient variability, the presence of disease, and other clinical factors. Further, uncertainty in the clinical data often remains unaccounted for in the modeling pipeline. Objective: We present an end-to-end uncertainty-aware pipeline to (1) personalize coronary flow simulations by incorporating vessel-specific coronary flows as well as cardiac function; and (2) predict clinical and biomechanical quantities of interest with improved precision, while accounting for uncertainty in the clinical data. Methods: We assimilate patient-specific measurements of myocardial blood flow from clinical CT myocardial perfusion imaging to estimate branch-specific coronary artery flows. Simulated noise in the clinical data is used to estimate the joint posterior distributions of the model parameters using adaptive Markov Chain Monte Carlo sampling. Additionally, the posterior predictive distribution for the relevant quantities of interest is determined using a new approach combining multi-fidelity Monte Carlo estimation with non-linear, data-driven dimensionality reduction. This leads to improved correlations between high- and low-fidelity model outputs. Results: Our framework accurately recapitulates clinically measured cardiac function as well as branch-specific coronary flows under measurement noise uncertainty. We observe substantial reductions in confidence intervals for estimated quantities of interest compared to single-fidelity Monte Carlo estimation and state-of-the-art multi-fidelity Monte Carlo methods. This holds especially true for quantities of interest that showed limited correlation between the low- and high-fidelity model predictions. In addition, the proposed multi-fidelity Monte Carlo estimators are significantly cheaper to compute than traditional estimators, under a specified confidence level or variance. Conclusions: The proposed pipeline for personalized and uncertainty-aware predictions of coronary hemodynamics is based on routine clinical measurements and recently developed techniques for CT myocardial perfusion imaging. The proposed pipeline offers significant improvements in precision and reduction in computational cost.

12.
Acta Otorhinolaryngol Ital ; 44(4): 269-274, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39347552

RESUMO

Objective: Skull base anatomy around the internal carotid artery (ICA) is extremely complex. Among anatomical landmarks studied, the vidian canal has been thoroughly evaluated, unlike the vidian nerve (VN). Our aim is to evaluate the VN-ICA relationships, and understand their role in terms of surgical planning. Methods: Fifty MRI examinations of 100 healthy petro-spheno-clival regions were reviewed in order to evaluate the relationship between the vidian nerve axis (VNA) and the petrous ICA. Twenty-seven cases of expanded endonasal approaches to petrous apex region were evaluated to check the VN-ICA relationship intraoperatively. Results: MRI evaluations showed that, in 23% of cases, the VNA was below the edge of the ICA, in 45% it was at the edge of the ICA and in 32% it ended up above the edge of the ICA. Surgically speaking, in 9 of 28 petrous apex approaches, the VN ended above the inferior edge of the petrous carotid. Conclusions: MRI evaluation adds useful information in planning the surgical approach to petro-spheno-clival regions, even if the identification of VNA, in these cases, may not be radiologically possible. Surgical experience confirms the importance of VN identification in guiding the surgeon in complex cases, and also outline the possible risks of relying only on this landmark.


Assuntos
Artéria Carótida Interna , Imageamento por Ressonância Magnética , Humanos , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/anatomia & histologia , Imageamento por Ressonância Magnética/métodos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Idoso , Nervo Abducente/anatomia & histologia , Nervo Abducente/diagnóstico por imagem , Base do Crânio/diagnóstico por imagem , Base do Crânio/anatomia & histologia , Base do Crânio/cirurgia , Adolescente
13.
ACS Energy Lett ; 9(9): 4587-4595, 2024 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-39296966

RESUMO

Bifacial perovskite solar cells (Bi-PSCs) require thick perovskite layers to sufficiently absorb higher wavelength light. Also, it is critical to know which electrode (top or bottom) can more efficiently harvest the direct incident solar irradiance. Here, fully vacuum-deposited Bi-PSCs are reported with perovskite layer thicknesses ranging from ∼720 nm to 1.3 µm. With an optimized ITO top-electrode, the Bi-PSCs generated higher current density under top-illumination by >1 mA/cm2, attaining the highest value of 24.98 mA/cm2. The best Bi-PSC exhibited an efficiency of 19.6% under top-illumination and 18.71% under bottom-illumination, resulting in a high bifaciality factor of ∼0.95. Furthermore, even after employing cover glass encapsulation on the top-electrode, the Bi-PSCs still produced higher current density from top-illumination. Upon bifacial illumination using simulated 1-Sun light as the main illumination and a white LED light albedo of ∼0.21, the champion Bi-PSC demonstrated a current density value of ∼30.00 mA/cm2.

14.
Pediatr Cardiol ; 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39287667

RESUMO

Despite the clinical results of the Fontan operation have certainly improved, it still presents with an inherent surgical risk of death and early morbidities. This is a retrospective clinical study of children undergoing Fontan operation in 9 congenital cardiac centers in Italy between 1990 and 2023. Clinical and surgical data were collected via a dedicated RedCap database. Primary outcome was cohort's mortality, also considering different decades, while secondary outcomes were postoperative complications and reintervention. In the last 3 decades, there were 897 patients undergoing Fontan operation, M/F 512/384, median age: 4.5 years (IQR 3.3-6.4), median weight 16 kg (IQR 14-22). A first palliation was deemed necessary in 710 patients (80%), and most patients underwent a staged Fontan (93%); an extracardiac conduit was used in 790 patients (88%). Postoperative complications (mild to severe) occurred in 410 patients (46%), and early reinterventions were required in 66 patients (7.5%). Overall operative mortality was 1.7% (15 patients). Age at Fontan greater than 4 years was associated with an early need for transcatheter reintervention (adj p value = 0.037) and a higher incidence of postoperative complications (adj p value = 0.017). The Fontan operation has seen significant improvements in immediate outcomes, notably a remarkable reduction in overall mortality to just 1.35% in the last decade. While minor complications have remained steady, there has been a substantial decrease in major early complications, deaths, and the need for reinterventions. Notably, patients aged over 4 years seem to face a higher risk of postoperative morbidity, underscoring the critical role of age in preoperative assessment and management strategies for Fontan patients.

15.
Artigo em Inglês | MEDLINE | ID: mdl-39316499

RESUMO

Genome Rearrangement distance problems are used in Computational Biology to estimate the evolutionary distance between genomes. These problems consist of minimizing the number of rearrangement events necessary to transform one genome into another. Two commonly used rearrangement events are reversal and transposition. The first studied problems ignored nucleotides outside genes (called intergenic regions), or assumed that genomes have a single copy of each gene. Recent works made advancements in more general problems considering the number of nucleotides in intergenic regions, and replicated genes. Nevertheless, genomes tend to have wildly different quantities of nucleotides on their intergenic regions, which poses a problem when comparing these regions exactly. To overcome this limitation, our work considers some flexibility when matching intergenic regions that do not have the same number of nucleotides. We propose new problems seeking the minimum number of reversals, or reversals and transpositions, necessary to transform one genome into another, while considering flexible intergenic region information. We show approximations for these problems by exploring their relationship with the Signed Minimum Common Flexible Intergenic String Partition problem. We also present different heuristics for the partition problem, and conduct experimental tests on simulated genomes to assess the performance of our algorithms.

16.
J Clin Invest ; 134(17)2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39225089

RESUMO

BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).RESULTSMonogenic kidney disorders were identified in 371 patients (6.5%), high-risk APOL1 genotypes in 318 (5.5%), and ACMG SFs in 100 (5.2%). Family history of kidney disease was the strongest predictor of monogenic disorders. After adjustment for traditional risk factors, monogenic kidney disorders were associated with an increased risk of kidney failure (hazard ratio [HR] = 1.72), higher rate of eGFR decline (-3.06 vs. 0.25 mL/min/1.73 m2/year), and lower risk of complete remission (odds ratioNot achieving CR = 5.25). High-risk APOL1 genotypes were associated with an increased risk of kidney failure (HR = 1.67) and faster eGFR decline (-2.28 vs. 0.25 mL/min/1.73 m2), replicating prior findings. ACMG SFs were not associated with personal or family history of associated diseases, but were predicted to impact care in 70% of cases.CONCLUSIONSMonogenic kidney disorders were associated with an increased risk of kidney failure, faster eGFR decline, and lower rates of complete remission, suggesting opportunities for early identification and intervention based on molecular diagnosis.TRIAL REGISTRATIONNA.FUNDINGNational Institute of Diabetes and Digestive and Kidney Diseases grants U24DK100845 (formerly UM1DK100845), U01DK100846 (formerly UM1DK100846), U01DK100876 (formerly UM1DK100876), U01DK100866 (formerly UM1DK100866), U01DK100867 (formerly UM1DK100867), U24DK100845, DK081943, RC2DK116690, 2U01DK100876, 1R01DK136765, 5R01DK082753, and RC2-DK122397; NephCure Kidney International; Department of Defense Research Awards PR201425, W81XWH-16-1-0451, and W81XWH-22-1-0966; National Center for Advancing Translational Sciences grant UL1TR001873; National Library of Medicine grant R01LM013061; National Human Genome Research Institute grant 2U01HG008680.


Assuntos
Apolipoproteína L1 , Taxa de Filtração Glomerular , Insuficiência Renal , Humanos , Masculino , Feminino , Adulto , Apolipoproteína L1/genética , Pessoa de Meia-Idade , Insuficiência Renal/genética , Fatores de Risco , Criança , Estudos Retrospectivos , Adolescente , Estudos Prospectivos , Nefropatias/genética
17.
Front Chem ; 12: 1432546, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39206438

RESUMO

Re-designing existing nano-silver technologies to optimize efficacy and sustainability has a tangible impact on preventing infections and limiting the spread of pathogenic microorganisms. Advancements in manufacturing processes could lead to more cost-effective and scalable production methods, making nano-silver-based antimicrobial products more accessible in various applications, such as medical devices, textiles, and water purification systems. In this paper, we present a new, versatile, and eco-friendly one-pot process for preparing silver nanoparticles (AgNPs) at room temperature by using a quaternary ammonium salt of hydroxyethyl cellulose (HEC), a green ingredient, acting as a capping and reducing agent. The resulting nano-hybrid phase, AgHEC, consists of AgNPs embedded into a hydrogel matrix with a tunable viscosity depending on the conversion grade, from ions to nanoparticles, and on the pH. To investigate the synthesis kinetics, we monitored the reaction progress within the first 24 h by analyzing the obtained NPs in terms of particle size (dynamic light scattering (DLS), field emission scanning electron microscopy (FE-SEM), transmission electron microscopy (TEM)), Z-potential (ELS), surface plasmon resonance (UV-VIS), crystallographic phase (XRD), viscosity, and reaction yield (inductively coupled plasma-optical emission spectrometry (ICP-OES)). To explore the design space associated with AgHEC synthesis, we prepared a set of sample variants by changing two independent key parameters that affect nucleation and growth steps, thereby impacting the physicochemical properties and the investigated antimicrobial activity. One of the identified design alternatives pointed out an improved antimicrobial activity in the suspension, which was confirmed after application as a coating on nonwoven cellulose fabrics. This enhancement was attributed to a lower particle size distribution and a positive synergistic effect with the HEC matrix.

18.
Life Metab ; 3(3)2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39132450

RESUMO

In a recent paper published in Nature, York et al. reported that the anti-inflammatory cytokine IL-10 regulates sphingolipid metabolism to limit NF-κB-mediated inflammation. Deletion of Il10 in mice, or genetic mutation of IL10 in humans, predisposes to inflammatory bowel disease, which may be overcome by restoring homeostatic sphingolipid metabolism.

19.
Front Microbiol ; 15: 1416605, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39132144

RESUMO

Bovine tuberculosis (bTB) is a chronic inflammatory disease primarily caused by Mycobacterium bovis. The infection affects domestic animals and wildlife, posing a zoonotic risk to humans. To understand the dynamics of transmission and genetic diversity in Italy's M. bovis population, we conducted whole-genome sequencing (WGS) analysis on two prevalent genotypes, belonging to Spoligotype SB0120, identified in different geographical and temporal contexts. By comparing these genomes with international M. bovis isolates, we identified a distinct clade within the lineage La1.2, encompassing the Italian SB0120 isolates, indicating a genomic segregation of Italian M. bovis from other European isolates. Within Italy, a significant level of genetic variability emerged across regions, while isolates within epidemiologically linked outbreaks exhibited minimal genetic diversity. Additionally, isolates derived from cattle and wild boars within a tuberculosis hotspot in Central Italy and from cattle and black pigs in Sicily formed unified clonal clusters. This indicates the presence of persistent strains circulating in the examined regions. The genetic diversity within herds was limited, as specific clones endured over time within certain herds. This research enhances our comprehension of the epidemiology and transmission patterns of bTB in Italy, thereby aiding the development of precise control strategies and disease management. Using WGS and implementing standardized protocols and databases will be pivotal in combating bTB and promoting One-Health approaches to address this noteworthy public health concern.

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