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1.
Radiologia (Engl Ed) ; 66(2): 132-154, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38614530

RESUMO

80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of "non-hereditary" familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/genética , Radiologistas , Ribonuclease III , RNA Helicases DEAD-box
2.
Radiología (Madr., Ed. impr.) ; 66(2): 132-154, Mar.- Abr. 2024. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-231515

RESUMO

El 80% de los carcinomas renales (CR) se diagnostican incidentalmente por imagen. Se aceptan un 2-4% de multifocalidad «esporádica» y un 5-8% de síndromes hereditarios, probablemente con infraestimación. Multifocalidad, edad joven, historia familiar, datos sindrómicos y ciertas histologías hacen sospechar un síndrome hereditario. Debe estudiarse individualmente cada tumor y multidisciplinarmente al paciente, con estrategias terapéuticas conservadoras de nefronas y un abordaje diagnóstico radioprotector. Se revisan los datos relevantes para el radiólogo en los síndromes de von Hippel-Lindau, translocación de cromosoma-3, mutación de proteína-1 asociada a BRCA, CR asociado a déficit en succinato-deshidrogenasa, PTEN, CR papilar hereditario, cáncer papilar tiroideo-CR papilar, leiomiomatosis hereditaria y CR, Birt-Hogg-Dubé, complejo esclerosis tuberosa, Lynch, translocación Xp11.2/fusión TFE3, rasgo de células falciformes, mutación DICER1, hiperparatoridismo y tumor mandibular hereditario, así como los principales síndromes de predisposición al tumor de Wilms.(AU)


80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of “sporadic” multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11.2 translocation/TFE3 fusion, Sickle cell trait, DICER1 mutation, Hereditary hyperparathyroidism and jaw tumor, as well as the main syndromes of Wilms tumor predisposition. The concept of “non-hereditary” familial RC and other malignant and benign entities that can present as multiple renal lesions are discussed.(AU)


Assuntos
Humanos , Masculino , Feminino , Neoplasias Colorretais Hereditárias sem Polipose , Esclerose Tuberosa , Síndrome de Birt-Hogg-Dubé , Doença de von Hippel-Lindau , Neoplasias Renais , Metástase Neoplásica/diagnóstico por imagem , Radiologia/métodos , Diagnóstico por Imagem , Neoplasias Primárias Múltiplas , Nefropatias/diagnóstico por imagem , Carcinoma de Células Renais
4.
Updates Surg ; 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38489129

RESUMO

INTRODUCTION: During the surge of the SARS-CoV-2 pandemic, studies revealed high complication and morbidity rates following surgical procedures in COVID-19 positive patients. Anesthetic and surgical societies swiftly developed strategies to mitigate these risks, including a recommended postponement of elective surgeries for a minimum of 7 weeks post-COVID infection. Nowadays, with a predominantly vaccinated population, it has become crucial to discern the influencing factors on post-COVID morbidity and mortality and a reevaluation of the existing recommendations pertaining to elective surgery. METHODS: A single-center case-control study was conducted, including patients who underwent surgery between November 2021 and March 2022 and met the inclusion criteria. Eighty COVID-19 positive patients were matched 1:1 with 80 controls, each undergoing an identical intervention within a 2-week time frame. The primary outcome was 30-day postoperative mortality and secondary outcome postoperative complications (respiratory and thromboembolic). RESULTS: At the time of surgery, 88.8% of patients in the case group and 92.5% in the control group had received at least one vaccine dose. Mortality and morbidity did not show a significant difference when comparing the case and control groups (7.5% vs 6.2%, p = 0.755; 11.3% vs 8.9%, p = 0.541 respectively). In the COVID-positive group, mortality was significantly associated with age over 70 years, ASA score over III, RCRI over 1, emergency procedures, and absence of thromboembolic prophylaxis. CONCLUSIONS: In contrast to previously reported findings, we did not observe an increased morbi-mortality in patients with perioperative COVID-19 infection. It may not be necessary to delay elective interventions, except in cases with a high-risk.

5.
JMIRx Med ; 5: e42211, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38488740

RESUMO

Background: Latino individuals experience disparities in the care of Alzheimer disease and related dementias (ADRD) and have disproportionately high COVID-19 infection and death outcomes. Objective: We aimed to gain an in-depth understanding of the impact of the COVID-19 pandemic among Latino families with ADRD in the United States. Methods: This was a qualitative study of 21 informal caregivers of Latino individuals with ADRD and 23 primary care providers who serve Latino patients. We recruited participants nationwide using convenience and snowball sampling methods and conducted remote interviews in English and Spanish. We organized the transcripts for qualitative review to identify codes and themes, using a pragmatic approach, a qualitative description methodology, and thematic analysis methods. Results: Qualitative analysis of transcripts revealed eight themes, including (1) the pandemic influenced mental and emotional health; (2) the pandemic impacted physical domains of health; (3) caregivers and care recipients lost access to engaging activities during the confinement; (4) the pandemic impacted Latino caregivers' working situation; (5) the pandemic impacted health care and community care systems; (6) health care and community care systems took measures to reduce the impact of the pandemic; (7) Latino families experienced barriers to remote communication during the pandemic; and (8) caregiver social support was critical for reducing social isolation and its sequalae. Conclusions: Latino families with ADRD experienced similar but also unique impacts compared to those reported in the general population. Unique impacts may result from Latino individuals' underserved status in the United States, commonly held cultural values, and their intersectionality with ADRD-related disability. Family caregiver social support was crucial during this time of adversity. These findings suggest the need for more equitable access, culturally appropriate and trustworthy content and delivery of health care and community services, as well as stronger financial and social supports for family caregivers.

8.
Artigo em Inglês | MEDLINE | ID: mdl-38135564

RESUMO

The oropharynx represents one of the most challenging areas to reconstruct for the head and neck surgeon. The buccinator myomucosal island flaps pedicled on the facial artery [tunnelized facial artery myomucosal island flap (t-FAMMIF)] or the buccal artery [buccal artery myomucosal island flap (BAMMIF)] are an ideal reconstructive option for moderate size defects measuring up to 8-9cm. Two fresh specimens have been used to show the step-by-step surgical technique of both island flaps. Design and flap extension, dissection plane, identification of the vascular pedicle, flap rotation and insetting are described. Reconstructive indications and the pros and cons of each one are discussed in this article. Myomucosal island flaps represent a very useful and versatile option for the functional reconstruction of the oropharynx. A detailed knowledge of the vascular anatomy of the cheek is key to obtain a large flap while minimizing the risk of complications.

9.
Rev Med Chil ; 151(1): 32-41, 2023 Feb.
Artigo em Espanhol | MEDLINE | ID: mdl-37906744

RESUMO

BACKGROUND: Long-term outcomes of Off-Pump Coronary Artery Bypass Grafting (OPCAB) as an alternative to the traditional Coronary Artery Bypass Grafting (CABG) technique with cardiopulmonary bypass (CPB) are not well defined. AIM: To compare 10-year survival of isolated OPCAB versus CABG with CPB. MATERIAL AND METHODS: Analysis of information obtained from databases, clinical records and surgical protocols of patients treated with isolated CABG between January 2006 and November 2008 at a Regional Hospital. Of 658 isolated CABG, 192 (29.2%) were OPCAB and 466 (79.9%) CPB. Propensity Score Matching (PSM) was performed to compare both groups. After PSM, two groups of 192 cases were obtained. Mortality data was obtained from the Chilean public identification service. Ten-year survival was calculated and compared with Kaplan-Meier and log-rank methods. RESULTS: Follow-up data was obtained in all cases. No statistically significant differences were found when comparing 10-year survival between OPCAB versus CPB (78.6% and 80.2% respectively, p 0.720). There was also no statistical difference in cardiovascular death free survival (90.1% with CPB versus 89.1% OPCAB, p 0.737). Survival was comparable when analyzing subgroups with diabetes mellitus, left ventricular dysfunction or chronic kidney disease, among others. CONCLUSIONS: In our series, OPBAB has a comparable 10-year survival with CABG with CPB.


Assuntos
Ponte de Artéria Coronária sem Circulação Extracorpórea , Humanos , Estudos Retrospectivos , Ponte de Artéria Coronária sem Circulação Extracorpórea/efeitos adversos , Ponte de Artéria Coronária , Ponte Cardiopulmonar/efeitos adversos , Chile/epidemiologia , Resultado do Tratamento
10.
Public Health ; 223: 179-182, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37666182

RESUMO

OBJECTIVES: To address existing inequalities, the Barcelona City Council launched a Neighbourhood Plan in 2016-2020. During the first wave of the COVID-19 pandemic, the Neighbourhood Plan interventions were intensified. This study aimed to assess the effect of the plan on the incidence of COVID-19 during the first wave of the pandemic in Barcelona. STUDY DESIGN: We used a quasi-experimental design with 16 intervention neighbourhoods and 17 neighbourhoods in the comparison group with similar socioeconomic characteristics. METHODS: We calculated the cumulative incidence rate (CIR) of COVID-19 per 100,000 inhabitants by sex, age groups, and neighbourhood of residence. Poisson regression models were fitted to estimate the crude relative risk and relative risk adjusted by socioeconomic status (cRR and aRR) and their 95% confidence intervals (CIs). RESULTS: The CIR of COVID-19 was lower in the intervention neighbourhoods (CIR: 841 per 100,000 inhabitants) than in the comparison group (CIR: 973 per 100,000 inhabitants). On multivariate analysis, the aRR was 0.77 (CI: 0.70-0.83) for men and 0.89 (CI: 0.83-0.96) for women. Among men older than 75 years (aRR = 0.73; CI: 0.62-0.86), statistically significant differences were found in the intervention neighbourhoods compared to the comparison group. This pattern was not observed in women older than 75 years (aRR = 1.13; CI: 0.99-1.30). CONCLUSION: This research finds positive short-term effect in the intervention neighbourhoods. We conclude that the COVID-19 control and prevention interventions are likely to explain the better performance in the neighbourhoods included in the Neighbourhood Plan.


Assuntos
COVID-19 , Reforma Urbana , Masculino , Humanos , Feminino , Pandemias/prevenção & controle , COVID-19/epidemiologia , COVID-19/prevenção & controle , Análise Multivariada , Projetos de Pesquisa
11.
BMC Nurs ; 22(1): 307, 2023 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-37674161

RESUMO

BACKGROUND: When caregivers have a high level of caregiver mastery, their care recipients with cognitive impairment have less behavioral health problems. However, the relationship between caregiver mastery and anxiety among care recipients over time is unknown. Therefore, this study was conducted to examine that better caregiver mastery is associated with less anxiety in individuals with cognitive impairment over time. METHODS: A secondary data analysis was conducted using the Healthy Patterns Clinical Trial (NCT03682185) dataset and guided by Factors Associated with Behavioral and Psychological Symptoms of Dementia conceptual framework. This study included 154 dyads of individuals with cognitive impairment and their caregivers. Multiple linear regression analyses were performed on changes in anxiety. Model 1 included variables at the level of neurodegeneration (i.e., cognitive impairment and age). Model 2 added patient factors (i.e., sleep problems and depression) with the Model 1. Finally, Model 3 included caregiver factor (i.e., caregiver mastery) with the Model 2 to examine how changes in caregiver mastery influence changes in anxiety of care recipients. RESULTS: Model 3 was statistically significant; after controlling for variables at the level of neurodegeneration associated with cognitive impairment and patient factors, improvement of caregiver mastery over time (ß =-0.230, p = 0.015) was related to decreased anxiety over time (R2 = 0.1099). CONCLUSIONS: Caregivers with high caregiver mastery may have better knowledge on how to care for their loved ones and how to manage their neuropsychiatric symptoms. Therefore, improving the level of caregiver mastery by providing psychoeducational programs and resources that family caregivers need will help reduce the frequency of anxiety in individuals with cognitive impairment.

14.
Nat Mater ; 22(7): 867-872, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37349399

RESUMO

The emergence of a topological transition of the polaritonic dispersion in twisted bilayers of anisotropic van der Waals materials at a given twist angle-the photonic magic angle-results in the diffractionless propagation of polaritons with deep-subwavelength resolution. This type of propagation, generally referred to as canalization, holds promise for the control of light at the nanoscale. However, the existence of a single photonic magic angle hinders such control since the canalization direction in twisted bilayers is unique and fixed for each incident frequency. Here we overcome this limitation by demonstrating multiple spectrally robust photonic magic angles in reconfigurable twisted α-phase molybdenum trioxide (α-MoO3) trilayers. We show that canalization of polaritons can be programmed at will along any desired in-plane direction in a single device with broad spectral ranges. These findings open the door for nanophotonics applications where on-demand control is crucial, such as thermal management, nanoimaging or entanglement of quantum emitters.


Assuntos
Fótons , Anisotropia
15.
Med. infant ; 30(2): 114-121, Junio 2023. Ilus, tab
Artigo em Espanhol | LILACS, UNISALUD, BINACIS | ID: biblio-1443459

RESUMO

Las Leucemias y linfomas constituyen las enfermedades oncológicas más frecuentes en pediatría y las bacteriemias representan infecciones graves en estos pacientes. Objetivos: describir los microorganismos aislados de sangre en pacientes con leucemia aguda o linfoma pediátrico; comparar la incidencia de aislamientos según enfermedad de base; detallar las variaciones en la incidencia de dichos aislamientos y la evolución de su resistencia antimicrobiana. Estudio retrospectivo, observacional. Se incluyeron 823 episodios de bacteriemia en 467 pacientes pediátricos, entre julio-2016 y junio-2022, dividido en tres períodos (período-1: años 2016- 2018, período-2: años 2018-2020, período-3: años 2020-2022). Se aislaron 880 microorganismos: 55,3% gram negativos (GN), 40% gram positivos (GP) y 4,7% levaduras. En GN predominaron: enterobacterias (72%) y en GP: estreptococos del grupo viridans (SGV) (34,1%). Se encontró asociación entre LLA-enterobacterias (p=0,009) y LMA-SGV (p<0,001). Hubo aumento de GN entre los períodos 1 y 3 (p=0,02) y 2 y 3 (p=0,002) y disminución de GP entre 2 y 3 (p=0,01). Se registraron los siguientes mecanismos de resistencia: BLEE (16,4%), carbapenemasas: KPC (2,5%); MBL (2,7%) y OXA (0,2%); meticilinorresistencia en Staphylococcus aureus (20%) y estafilococos coagulasa negativos (95%), vancomicina resistencia en Enterococcus spp. (39%), SGV no sensibles a penicilina (44%) y a cefotaxima (13%). Hubo aumento de MBL entre los períodos 1 y 2 (p=0,02) y una tendencia en disminución de sensibilidad a penicilina en SGV entre el 1 y 3 (p=0,058). El conocimiento dinámico y análisis de estos datos es esencial para generar estadísticas a nivel local, fundamentales para el diseño de guías de tratamientos empíricos (AU)


Leukemias and lymphomas are the most common cancers in children and bacteremia is a severe infection in these patients. Objectives: to describe the microorganisms isolated from blood in pediatric patients with acute leukemia or lymphoma; to compare the incidence of isolates according to the underlying disease; and to detail the variations in the incidence of these isolates and the evolution of their antimicrobial resistance. Retrospective, observational study. We included 823 episodes of bacteremia in 467 pediatric patients seen between July-2016 and June-2022, divided into three periods (period-1: 2016- 2018, period-2: 2018-2020, period-3: 2020-2022). A total of 880 microorganisms were isolated: 55.3% were gram-negative (GN), 40% gram-positive (GP) and 4.7% yeasts. In GN there was a predominance of: enterobacteria (72%) and in GP viridans group streptococci (VGS) (34.1%). An association was found between ALL-enterobacteria (p=0.009) and AML-VGS (p<0.001). There was an increase in GN between periods 1 and 3 (p=0.02) and 2 and 3 (p=0.002) and a decrease in GP between 2 and 3 (p=0.01). The following resistance mechanisms were recorded: BLEE (16.4%), carbapenemases: KPC (2.5%), MBL (2.7%), and OXA (0.2%); methicillin resistance in Staphylococcus aureus (20%) and coagulase negative staphylococci (95%), vancomycin resistance in Enterococcus spp. (39%), VGS resistant to penicillin (44%) and to cefotaxime (13%). There was an increase in MBL between periods 1 and 2 (p=0.02) and a decreasing trend in penicillin sensitivity in VGS between periods 1 and 3 (p=0.058). Dynamic knowledge and analysis of these data is essential to generate statistics at the local level, which is fundamental for the design of empirical treatment guidelines (AU)


Assuntos
Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Leucemia Mieloide Aguda/complicações , Leucemia Linfoide/complicações , Seguimentos , Bacteriemia/microbiologia , Neutropenia Febril/etiologia , Linfoma/complicações , Doença Aguda , Estudos Retrospectivos , Estudos de Coortes , Farmacorresistência Bacteriana , Anti-Infecciosos/efeitos adversos
17.
Rev Sci Tech ; 42: 24-30, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37232322

RESUMO

This article reviews the Observatory of the World Organisation for Animal Health (WOAH, founded as OIE), including its objectives, direction and progress achieved so far. It explains the benefits offered by this data-driven programme in improving access to data and information analysis while ensuring confidentiality. In addition, the authors examine the challenges that the Observatory faces and its inextricable link to the Organisation's data management. The development of the Observatory is of the utmost importance, not only for its relevance to the development of WOAH International Standards and their implementation worldwide, but also because of its role as one of the drivers of WOAH's digital transformation plan. This transformation is essential, given the major role of information technologies in supporting regulation for animal health, animal welfare and veterinary public health.


Cet article consacré à l'Observatoire de l'Organisation mondiale de la santé animale (OMSA, fondée en tant qu'OIE) fait le point sur ses objectifs, ses orientations et les accomplissements réalisés à ce jour. Les auteurs expliquent les bénéfices et améliorations apportés par ce programme axé sur les données, en termes à la fois d'accès aux données, d'analyse de l'information et de confidentialité. Ils abordent aussi les défis auxquels l'Observatoire doit faire face et son lien indissociable avec la gestion des données de l'Organisation. Le développement de l'Observatoire revêt une importance fondamentale, non seulement en regard de sa pertinence pour l'élaboration et la mise en oeuvre des normes internationales de l'OMSA partout dans le monde, mais aussi parce qu'il est le moteur de la planification de la transformation numérique de l'OMSA. Cette transformation est cruciale, compte tenu du rôle majeur que jouent les technologies de l'information en appui de la réglementation de la santé animale, du bien-être animal et de la santé publique vétérinaire.


Los autores presentan el Observatorio de la Organización Mundial de Sanidad Animal (OMSA, fundada como OIE), deteniéndose en particular en sus objetivos, su orientación y el camino recorrido hasta ahora. También exponen las ventajas que ofrece este programa centrado en los datos para mejorar tanto el acceso a los datos como los análisis de información, asegurando al mismo tiempo la confidencialidad. Además, examinan las dificultades a que hace frente el Observatorio y el indisociable vínculo que este guarda con la gestión de datos de la Organización. El desarrollo del Observatorio reviste una importancia capital, no solo por su utilidad para la elaboración de las normas internacionales de la OMSA y su aplicación en todo el mundo, sino también porque constituye uno de los motores del plan de transformación digital de la OMSA. Se trata de un proceso de transformación esencial, dada la importante función que cumplen las tecnologías de la información a la hora de regular la sanidad y el bienestar animales y la salud pública veterinaria.


Assuntos
Doenças dos Animais , Medicina Veterinária , Animais , Cooperação Internacional , Comércio , Saúde Global , Saúde Pública , Bem-Estar do Animal
18.
Sci Rep ; 13(1): 6479, 2023 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-37081011

RESUMO

Continuous renal replacement techniques (CRRT) can induce complications and monitoring is crucial to ensure patient safety. We designed a prospective multicenter observational and descriptive study using the DIALYREG registry, an online database located on a REDCap web-based platform that allows real-time data analysis. Our main objective was to identify CRRT-related complications in our intensive care units (ICUs) and implement security measures accordingly. From January 2019 to December 2020, we included 323 patients with admission diagnoses of medical illness (54%), sepsis (24%), postoperative care (20%), and trauma (2%). CRRT indications were homeostasis (42%), oliguria (26%), fluid overload (15%), and hemodynamic optimization (13%). The median initial therapy dose was 30 ml/kg/h (IQR 25-40), and dynamic adjustment was performed in 61% of the treatments. Sets were anticoagulated with heparin (40%), citrate (38%) or no anticoagulation (22%). Citrate anticoagulation had several advantages: more frequent dynamic CRRT dose adjustment (77% vs. 58% with heparin and 56% without anticoagulation, p < 0.05), longer duration of set (median of 55 h, IQR 24-72 vs. 23 h, IQR 12-48 with heparin and 12 h, IQR 12-31 without anticoagulation, p < 0.05), less clotting of the set (26% vs. 46.7% with heparin, p < 0.05), and lower incidence of hypophosphatemia (1% citrate vs. 6% with heparin and 5% without anticoagulation). It was also safe and effective in subgroup analysis of patients with liver disease or sepsis. The main global complications were hypothermia (16%), hypophosphatemia (13%) and metabolic acidosis (10%). Weaning of the therapy was achieved through early discontinuation (56%), nocturnal therapy transition (26%) and progressive SLED (18%). 52% of the patients were discharged from the hospital, while 43% died in the ICU and 5% died during hospitalization. We can conclude that the DIALYREG registry is a feasible tool for real-time control of CRRT in our ICU.


Assuntos
Injúria Renal Aguda , Hipofosfatemia , Humanos , Anticoagulantes/uso terapêutico , Estudos Prospectivos , Estado Terminal/terapia , Injúria Renal Aguda/tratamento farmacológico , Heparina , Ácido Cítrico/uso terapêutico , Citratos/uso terapêutico
19.
bioRxiv ; 2023 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-37034741

RESUMO

Alternative splicing impacts most multi-exonic human genes. Inaccuracies during this process may have an important role in ageing and disease. Here, we investigated mis-splicing using RNA-sequencing data from ~14K control samples and 42 human body sites, focusing on split reads partially mapping to known transcripts in annotation. We show that mis-splicing occurs at different rates across introns and tissues and that these splicing inaccuracies are primarily affected by the abundance of core components of the spliceosome assembly and its regulators. Using publicly available data on short-hairpin RNA-knockdowns of numerous spliceosomal components and related regulators, we found support for the importance of RNA-binding proteins in mis-splicing. We also demonstrated that age is positively correlated with mis-splicing, and it affects genes implicated in neurodegenerative diseases. This in-depth characterisation of mis-splicing can have important implications for our understanding of the role of splicing inaccuracies in human disease and the interpretation of long-read RNA-sequencing data.

20.
Sci Rep ; 13(1): 5200, 2023 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-36997620

RESUMO

Minute insects such as parasitic micro-wasps have high basic and applied importance for their widespread use as biocontrol agents. Their dispersal is a phenotype of particular interest. Classically, it is evaluated using field releases, but those are time consuming, costly, and their results highly variable, preventing high-throughput and repeatability. Alternatively, dispersal can be studied using small-scale assays, but those neglect important higher-scale processes. Consequently, proper evaluation of dispersal is often complicated or lacking in academic studies and biocontrol breeding programs. Here we introduce a new method, the double-spiral maze, that allows the study of spatial propagation of groups of micro-wasps at relevant scales (several hours and meters), retaining high throughput and experimental power. The method records the location of every individual at every time, enabling accurate estimates of diffusion coefficients or other dispersal metrics. We describe this affordable, scalable, and easy-to-implement method, and illustrate its application with a species of agricultural interest.


Assuntos
Insetos , Vespas , Animais , Agricultura
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