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1.
Int J Cardiol ; 412: 132321, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-38977225

RESUMEN

BACKGROUND: Left ventricular lead positioning represents a key step in CRT optimization. However, evidence for its guidance based on specific topographical factors and related imaging techniques is sparse. OBJECTIVE: To analyze reverse remodeling (RR) and clinical events in CRT recipients based on LV cathode (LVC) position relative to latest mechanical activation (LMA) and scar as determined by cardiac magnetic resonance (CMR). METHODS: This is a retrospective single-center study of 68 consecutive Q-LV-guided CRT-D and CRT-P recipients. Through CMR-based 3D reconstructions overlayed on fluoroscopy images, LVCs were stratified as concordant, adjacent, or discordant to LMA (3 segments with latest and greatest radial strain) and scar (segments with >50% scar transmurality). The primary endpoint of RR (expressed as percentage ESV change) and secondary composite endpoint of HF hospitalizations, LVAD/heart transplant, or cardiovascular death were compared across categories. RESULTS: LVC proximity to LMA was associated with a progressive increase in RR (percentage ESV change: concordant -47.0 ± 5.9%, adjacent -31.4 ± 3.1%, discordant +0.4 ± 3.7%), while proximity to scar was associated with sharply decreasing RR (concordant +10.7 ± 12.9%, adjacent +0.3 ± 5.3%, discordant -31.3 ± 4.4%, no scar -35.4 ± 4.8%). 4 integrated classes of LVC position demonstrated a significant positive RR gradient the more optimal the category (class I -47.0 ± 5.9%, class II -34.9 ± 2.8%, class III -5.5 ± 4.3%, class IV + 3.4 ± 5.2%). Freedom from composite secondary endpoint of HF hospitalization, LVAD/heart transplant, or cardiovascular death confirmed these trends demonstrating significant differences across both integrated as well as individual LMA and scar categories. CONCLUSION: Integrated CMR-determined LVC position relative to LMA and scar stratifies response to CRT.


Asunto(s)
Imagen por Resonancia Cinemagnética , Humanos , Masculino , Femenino , Estudios Retrospectivos , Persona de Mediana Edad , Imagen por Resonancia Cinemagnética/métodos , Anciano , Terapia de Resincronización Cardíaca/métodos , Remodelación Ventricular/fisiología , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/fisiopatología , Electrodos Implantados , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/terapia , Dispositivos de Terapia de Resincronización Cardíaca , Estudios de Seguimiento
2.
Artículo en Inglés | MEDLINE | ID: mdl-39078656

RESUMEN

Introduction: The rise of digital health applications utilizing continuous glucose monitoring (CGM) allows for novel assessments of glucose management and weight changes in people without diabetes. The Signos System incorporates a digital health app paired with a CGM to provide information and prompts aimed to help people without diabetes to manage weight. Objectives: The primary objective of this study was to determine whether the average timing of the latest chronological glucose excursion ("spike") was correlated with amount of weight loss. Methods: This was a retrospective analysis of prospectively obtained glucose and weight data from people without diabetes who enrolled in the Signos System from November 2021 to August 2023. Participants were provided CGMs as well as encouraged to use the Signos app with personalized advice and logging capabilities for weight, food, physical activity, heart rate, sleep, and activities. "Latest spike time" (LST) was retrospectively derived from CGM data and compared with weight changes at 6 months. Results: Nine hundred and twenty-six subjects met the inclusion criteria including sufficient days wearing a CGM and a weight log within 15 days of 6 months from their first weight log. There was a strong correlation between an earlier spike time and increased weight loss. The top quintile of subjects, with an average LST before 5:41 PM, lost over three times as much weight as the bottom quintile of users, with LST after 8:40 PM; this separation was predictable within 1 month of data. Conclusion: In a large population of obese people without diabetes, continuous glucose data, specifically a novel metric "LST," was highly correlated with percentage of total body weight loss at 6 months. This research suggests that for people attempting weight loss, review and alteration of behaviors relating to later glucose excursions may be of specific benefit.

3.
Curr Protoc ; 4(5): e1063, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38808697

RESUMEN

The emergence of computer technologies and computing power has led to the development of several database systems that provide standardized access to vast quantities of data, making it possible to collect, search, index, evaluate, and extract useful knowledge across various fields. The Home of All Biological Databases (HABD) has been established as a continually expanding platform that aims to store, organize, and distribute biological data in a searchable manner, removing all dead and non-accessible data. The platform meticulously categorizes data into various categories, such as COVID-19 Pandemic Database (CO-19PDB), Database relevant to Human Research (DBHR), Cancer Research Database (CRDB), Latest Database of Protein Research (LDBPR), Fungi Databases Collection (FDBC), and many other databases that are categorized based on biological phenomena. It currently provides a total of 22 databases, including 6 published, 5 submitted, and the remaining in various stages of development. These databases encompass a range of areas, including phytochemical-specific and plastic biodegradation databases. HABD is equipped with search engine optimization (SEO) analyzer and Neil Patel tools, which ensure excellent SEO and high-speed value. With timely updates, HABD aims to facilitate the processing and visualization of data for scientists, providing a one-stop-shop for all biological databases. Computer platforms, such as PhP, html, CSS, Java script and Biopython, are used to build all the databases. © 2024 Wiley Periodicals LLC.


Asunto(s)
COVID-19 , Bases de Datos Factuales , Humanos , COVID-19/epidemiología , SARS-CoV-2 , Motor de Búsqueda , Investigación Biomédica
4.
Infect Dis Rep ; 16(3): 423-434, 2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38804441

RESUMEN

(1) Background: Since the advent of zidovudine in 1987, antiretroviral therapy has undergone significant evolution, marked by the introduction of 34 antiretroviral drugs and 24 fixed-dose combinations. Despite these advances, hepatotoxicity remains a formidable challenge, influencing morbidity, mortality, and treatment adherence in HIV-infected patients. This study aims to compare the hepatotoxic effects of latest-generation antiretroviral medications with those of older-generation therapies, assessing their long-term impact on liver health in HIV patients. (2) Methods: This retrospective study analyzed data from 304 HIV patients treated with either latest-generation or older-generation antiretroviral drugs over four years. Patients were monitored for hepatotoxicity through liver function tests at diagnosis, six months, and one-year post-treatment initiation. (3) Results: Initial and six-month liver function tests showed no significant differences between the two groups. However, at one-year post-treatment, patients on latest-generation antiretrovirals exhibited significant improvements in ALT, AST, and ALP levels, suggesting a better safety profile regarding hepatotoxicity. Additionally, a significantly lower incidence of splenomegaly was observed in patients treated with newer medications. (4) Conclusions: The findings suggest that the latest-generation antiretroviral medications may offer a safer profile in terms of hepatotoxicity compared to older therapies, with potential benefits for long-term liver health. This study underscores the importance of continuous monitoring and further research to optimize ART strategies, ensuring improved patient outcomes and quality of life for individuals living with HIV.

5.
Int J Pharm ; 657: 124169, 2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38688428

RESUMEN

Oral suspension is the most preferred dosage form for the paediatric population because of the difficulties related to solid medications, such as the swallowing limitations, bitter taste, and poor oral bioavailability, which can cause serious impairment to attain a successful treatment. Given the importance of successful therapies, there is a need for safe and effective commercially-available paediatric oral suspension and their characterization. For the latter, it is important to identify safe excipients and preservatives. The paediatric group is a diverse category which includes infants and teenagers, with major pharmacokinetics and pharmacodynamics differences, mainly because of physiological and behavioral variations. Therefore, finding a single formulation for paediatric population remains a challenge, as well asthe formulation of stable-in-time suspension. In addition, drug's dissolving characteristic and permeation, are the main determinants for oral absorption, which are closely related to drug release kinetics from the pharmaceutical form. In this context, drug release profile is an important and limiting step in oral bioavailability, particularly for BCS class II drugs; thus, it is possible to increase bioavailability and minimize adverse effects by changing the release rate of such drugs. This review covers all the aspects for paediatric oral suspension development, and analyses the considerations for excipients selection as a crucial task for effectively choosing a safe and effective pharmaceutical form and correctly dosing paediatric patients.


Asunto(s)
Disponibilidad Biológica , Excipientes , Suspensiones , Humanos , Administración Oral , Niño , Excipientes/química , Composición de Medicamentos/métodos , Adolescente , Liberación de Fármacos , Química Farmacéutica/métodos , Lactante , Preparaciones Farmacéuticas/administración & dosificación , Preparaciones Farmacéuticas/química
6.
Europace ; 25(9)2023 08 02.
Artículo en Inglés | MEDLINE | ID: mdl-37695316

RESUMEN

AIMS: Several studies have evaluated the use of electrically- or imaging-guided left ventricular (LV) lead placement in cardiac resynchronization therapy (CRT) recipients. We aimed to assess evidence for a guided strategy that targets LV lead position to the site of latest LV activation. METHODS AND RESULTS: A systematic review and meta-analysis was performed for randomized controlled trials (RCTs) until March 2023 that evaluated electrically- or imaging-guided LV lead positioning on clinical and echocardiographic outcomes. The primary endpoint was a composite of all-cause mortality and heart failure hospitalization, and secondary endpoints were quality of life, 6-min walk test (6MWT), QRS duration, LV end-systolic volume, and LV ejection fraction. We included eight RCTs that comprised 1323 patients. Six RCTs compared guided strategy (n = 638) to routine (n = 468), and two RCTs compared different guiding strategies head-to-head: electrically- (n = 111) vs. imaging-guided (n = 106). Compared to routine, a guided strategy did not significantly reduce the risk of the primary endpoint after 12-24 (RR 0.83, 95% CI 0.52-1.33) months. A guided strategy was associated with slight improvement in 6MWT distance after 6 months of follow-up of absolute 18 (95% CI 6-30) m between groups, but not in remaining secondary endpoints. None of the secondary endpoints differed between the guided strategies. CONCLUSION: In this study, a CRT implantation strategy that targets the latest LV activation did not improve survival or reduce heart failure hospitalizations.


Asunto(s)
Terapia de Resincronización Cardíaca , Insuficiencia Cardíaca , Humanos , Terapia de Resincronización Cardíaca/efectos adversos , Ecocardiografía , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/terapia , Ventrículos Cardíacos/diagnóstico por imagen , Hospitalización
8.
Front Pharmacol ; 14: 1190604, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37332343

RESUMEN

Background and Objective: Alzheimer's disease (AD) is a progressive neurodegenerative disorder, that is, characterized by cognitive decline. To date, there are no effective treatments for AD. Therefore, the objective of this study was to map new perspectives on the effects of pharmacological treatment on cognitive function and the overall psychological state in patients with AD. Methods: Two independent researchers searched for randomized clinical trials (RCTs) exploring new pharmacological approaches related to cognition in Alzheimer's disease in adults from 2018 to 2023 in PubMed, Web of Science, Scopus, and Cochrane Library databases. A total of 17 RCTs were included in this review. Results: The results show that in recent years, new drugs have been tested in patients with Alzheimer's disease, including masitinib, methylphenidate, levetiracetam, Jiannao Yizhi, and Huannao Yicong formulas. Most studies have been conducted in populations with mild to moderate Alzheimer's disease. Conclusion: Although some of the drugs found suggested improvement in cognitive function, the scarcity of available studies highlights the need for further research in this area. Systematic review registration: [www.crd.york.ac.uk/prospero], identifier [CRD42023409986].

9.
Cureus ; 15(5): e39111, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37332420

RESUMEN

Social media, leveraging Web 2.0 technologies, plays a vital role in healthcare, medical education, and research by fostering collaboration and enabling research dissemination. Healthcare professionals use these platforms to improve public health literacy, but concerns about misinformation and content accuracy persist. In 2023, platforms like Facebook (Meta Platforms, Inc., Menlo Park, California, United States), YouTube (Google LLC, Mountain View, California, United States), Instagram (Meta Platforms, Inc.), TikTok (ByteDance Ltd, Beijing, China), and Twitter (X Corp., Carson City, Nevada, United States) have become essential in healthcare, offering patient communication, professional development, and knowledge-sharing opportunities. However, challenges such as breaches of patient confidentiality and unprofessional conduct remain. Social media has transformed medical education, providing unique networking and professional development opportunities. Further studies are needed to determine its educational value. Healthcare professionals must follow ethical and professional guidelines, particularly regarding patient privacy, confidentiality, disclosure rules, and copyright laws. Social media significantly impacts patient education and healthcare research. Platforms like WhatsApp (Meta Platforms, Inc.) effectively improve patient compliance and outcomes. Yet, the rapid dissemination of false news and misinformation on social media platforms presents risks. Researchers must consider potential biases and content quality when extracting data. Quality control and regulation are crucial in addressing potential dangers and misinformation in social media and healthcare. Stricter regulations and monitoring are needed due to cases of deaths resulting from social media trends and false news spread. Ethical frameworks, informed consent practices, risk assessments, and appropriate data management strategies are essential for responsible research using social media technologies. Healthcare professionals and researchers must judiciously use social media, considering its risks to maximize benefits and mitigate potential drawbacks. By striking the right balance, healthcare professionals can enhance patient outcomes, medical education, research, and the overall healthcare experience.

10.
Journal of Modern Urology ; (12): 643-648, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1006002

RESUMEN

Interstitial cystitis/bladder pain syndrome (IC/BPS) is characterized by pain, oppressing sensation, or discomfort associated with the bladder, accompanied by lower urinary tract symptoms, lasting for more than 6 weeks (or 6 months). Since IC/BPS was first reported, its diagnosis and treatment have been a challenge to clinicians. This article will review its classification and phenotype, fundamental research, imaging, symptom score, cystoscopy, treatment and potential therapeutic targets.

11.
Innov Surg Sci ; 8(4): 227-230, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38510364

RESUMEN

In microsurgery, many different imaging techniques are available in both flap and lymphatic surgery that all come with their own advantages and disadvantages. In flap surgery, CT angiography is considered as the gold standard. Among others, Doppler ultrasound, color Doppler ultrasound, ICG, and smartphone-based thermal cameras are valuable imaging techniques. In lymphatic surgery, photoacoustic imaging, laser tomography, contrast-enhanced magnetic resonance imaging, and high frequency ultrasound stand available to surgeons next to the current standard of lymphoscintigraphy. It is crucial to know the advantages and disadvantages to various techniques and highly adviced to microsurgeons be capable of using a variety of them.

12.
Cureus ; 14(11): e31921, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36579292

RESUMEN

Everyone aspires to have a youthful appearance, complete with a beaming grin. By treating skeletal and dental malocclusions that interfere with facial aesthetics, orthodontics helps patients attain a beautiful face and a smile they will be proud of. The diagnosis of the underlying illness or condition serves as the basis for all medical, dental, and surgical operations. Dental professionals all across the world have reaped the benefits of a major scientific advance in recent years. Many measurements may now be seen and quantified more easily using computer-assisted cephalometry. The accuracy and high quality of all dental materials have been enhanced thanks to computer-aided design and computer-aided manufacture. There have been several developments in the realm of orthodontics. The growing use of technology in recent years has transformed every sector, including medicine and dentistry. From Angle's time to today's nanorobotic age, orthodontic ideas, biomaterials, and technology have evolved greatly. It has been extensively utilized for diagnosis, treatment planning, three-dimensional printing, appliance systems, digital storage, integration, and data retrieval. The technology used in orthodontics is always getting better, and this article aims to give an overview of the most recent changes.

13.
Front Physiol ; 13: 1006885, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36311225
14.
Front Pediatr ; 10: 957585, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36204671

RESUMEN

There are two recently completed large randomized clinical trials of blood transfusions in the preterm infants most at risk of requiring them. Liberal and restrictive strategies were compared with composite primary outcome measures of death and neurodevelopmental impairment. Infants managed under restrictive guidelines fared no worse in regard to mortality and neurodevelopment in early life. The studies had remarkably similar demographics and used similar transfusion guidelines. In both, there were fewer transfusions in the restrictive arm. Nevertheless, there were large differences between the studies in regard to transfusion exposure with almost 3 times the number of transfusions per participant in the transfusion of prematures (TOP) study. Associated with this, there were differences between the studies in various outcomes. For example, the combined primary outcome of death or neurodevelopmental impairment was more likely to occur in the TOP study and the mortality rate itself was considerably higher. Whilst the reasons for these differences are likely multifactorial, it does raise the question as to whether they could be related to the transfusions themselves? Clearly, every effort should be made to reduce exposure to transfusions and this was more successful in the Effects of Transfusion Thresholds on Neurocognitive Outcomes (ETTNO) study. In this review, we look at factors which may explain these transfusion differences and the differences in outcomes, in particular neurodevelopment at age 2 years. In choosing which guidelines to follow, centers using liberal guidelines should be encouraged to adopt more restrictive ones. However, should centers with more restrictive guidelines change to ones similar to those in the studies? The evidence for this is less compelling, particularly given the wide range of transfusion exposure between studies. Individual centers already using restrictive guidelines should assess the validity of the findings in light of their own transfusion experience. In addition, it should be remembered that the study guidelines were pragmatic and acceptable to a large number of centers. The major focus in these guidelines was on hemoglobin levels which do not necessarily reflect tissue oxygenation. Other factors such as the level of erythropoiesis should also be taken into account before deciding whether to transfuse.

15.
Heart Rhythm O2 ; 3(4): 377-384, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36097466

RESUMEN

Background: Previous studies have suggested that targeting the site of latest mechanical activation of the left ventricle (LV) results in improved cardiac resynchronization therapy (CRT) outcomes. It is not known whether these benefits are sustained over medium-term follow-up. Objective: To assess the clinical outcome of imaging-guided LV lead position. Methods: We sought to assess the medium-term clinical outcome by performing a patient-level meta-analysis of 2 previously published randomized controlled trials (the "STARTER" trial and the "CRT Clinic" trial). These 2 trials compared imaging-guided LV lead placement in the latest activated scar-free segment (intervention group) to standard of care (control). Mortality and heart failure hospitalization outcomes over extended follow-up were gathered from the medical records and merged. Results were stratified for native electrocardiogram (ECG) morphology. Results: A total of 289 patients were followed for a median of 6.3 years. Seven years post implant, 47 (28%) in the intervention group had died, vs 47 (38%) in the control group (P = .13); 49 (30%) vs 53 (42%) had been hospitalized for heart failure (P = .035); and 47% vs 59% (P = .057) had reached the combined endpoint. In Kaplan-Meier analysis, patients in the intervention group had better survival free of heart failure hospitalization (P = .045) and lower risk of heart failure hospitalization (P = .019). Conclusion: Targeting the latest mechanically activated segment in CRT results in better medium-term clinical outcome, mainly driven by a reduced risk of hospitalization for heart failure. The effect was seen regardless of native ECG morphology.

16.
Small ; 18(40): e2203583, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35996805

RESUMEN

The burgeoning Li-ion battery is regarded as a powerful energy storage system by virtue of its high energy density. However, inescapable issues concerning safety and cost aspects retard its prospect in certain application scenarios. Accordingly, strenuous efforts have been devoted to the development of the emerging aqueous Zn-ion battery (AZIB) as an alternative to inflammable organic batteries. In particular, the instability from the anode side severely impedes the commercialization of AZIB. Constructing an artificial interphase layer (AIL) has been widely employed as an effective strategy to stabilize the Zn anode. This review specializes in the state-of-the-art of AIL design for Zn anode protection, encompassing the preparation methods, mechanism investigations, and device performances based on the classification of functional materials. To begin with, the origins of Zn instability are interpreted from the perspective of electrical field, mass transfer, and nucleation process, followed by a comprehensive summary with respect to functions of AIL and its designing criteria. In the end, current challenges and future outlooks based upon theoretical and experimental considerations are included.


Asunto(s)
Suministros de Energía Eléctrica , Litio , Electrodos , Interfase , Agua , Zinc
17.
Tomography ; 8(3): 1277-1292, 2022 05 07.
Artículo en Inglés | MEDLINE | ID: mdl-35645392

RESUMEN

Based on in silico, in vitro, in situ, and in vivo evaluations, this study aims to establish and optimize the chemical exchange saturation transfer (CEST) imaging of lactate (Lactate-CEST­LATEST). To this end, we optimized LATEST sequences using Bloch−McConnell simulations for optimal detection of lactate with a clinical 3 T MRI scanner. The optimized sequences were used to image variable lactate concentrations in vitro (using phantom measurements), in situ (using nine human cadaveric lower leg specimens), and in vivo (using four healthy volunteers after exertional exercise) that were then statistically analyzed using the non-parametric Friedman test and Kendall Tau-b rank correlation. Within the simulated Bloch−McConnell equations framework, the magnetization transfer ratio asymmetry (MTRasym) value was quantified as 0.4% in the lactate-specific range of 0.5−1 ppm, both in vitro and in situ, and served as the imaging surrogate of the lactate level. In situ, significant differences (p < 0.001) and strong correlations (τ = 0.67) were observed between the MTRasym values and standardized intra-muscular lactate concentrations. In vivo, a temporary increase in the MTRasym values was detected after exertional exercise. In this bench-to-bedside comprehensive feasibility study, different lactate concentrations were detected using an optimized LATEST imaging protocol in vitro, in situ, and in vivo at 3 T, which prospectively paves the way towards non-invasive quantification and monitoring of lactate levels across a broad spectrum of diseases.


Asunto(s)
Ácido Láctico , Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Fantasmas de Imagen , Fenómenos Físicos , Protones
18.
Med Biol Eng Comput ; 60(8): 2307-2319, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35729476

RESUMEN

This work dealt with the assessment of a computational tool to estimate the electrical activation in the left ventricle focusing on the latest electrically activated segment (LEAS) in patients with left bundle branch block and possible myocardial fibrosis. We considered the Eikonal-diffusion equation and to recover the electrical activation maps in the myocardium. The model was calibrated by using activation times acquired in the coronary sinus (CS) branches or in the CS solely with an electroanatomic mapping system (EAMS) during cardiac resynchronization therapy (CRT). We applied our computational tool to ten patients founding an excellent accordance with EAMS measures; in particular, the error for LEAS location was less than 4 mm. We also calibrated our model using only information in the CS, still obtaining an excellent agreement with the measured LEAS. The proposed tool was able to accurately reproduce the electrical activation maps and in particular LEAS location in the CS branches, with an almost real-time computational effort, regardless of the presence of myocardial fibrosis, even when information only at CS was used to calibrate the model. This could be useful in the clinical practice since LEAS is often used as a target site for the left lead placement during CRT. Overall picture of the computational pipeline for the estimation of LEAS.


Asunto(s)
Terapia de Resincronización Cardíaca , Seno Coronario , Insuficiencia Cardíaca , Bloqueo de Rama/terapia , Dispositivos de Terapia de Resincronización Cardíaca , Fibrosis , Humanos , Resultado del Tratamiento
19.
Macromol Rapid Commun ; 43(15): e2200075, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35436378

RESUMEN

Hydrogels are a fascinating class of materials popular in numerous fields, including tissue engineering, drug delivery, soft robotics, and sensors, thanks to their 3D network porous structure containing a significant amount of water. However, traditional hydrogels exhibit poor mechanical strength, limiting their practical applications. Thus, many researchers have focused on the development of mechanically enhanced hydrogels. This review describes the design considerations for constructing tough hydrogels and some of the latest strategies in recent years. These tough hydrogels have an up-and-coming prospect and bring great hope to the fields of biomedicine and others. Nonetheless, it is still no small challenge to realize hydrogel materials that are tough, multifunctional, intelligent, and with zero defects.


Asunto(s)
Hidrogeles , Ingeniería de Tejidos , Hidrogeles/química , Porosidad
20.
Medicina (B.Aires) ; 82(supl.1): 11-16, mar. 2022.
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1375887

RESUMEN

Resumen En más de la mitad de los trastornos del neurodesarrollo se demuestra una etiología genética. La detección de estas variantes patogénicas tiene un impacto enorme en el curso de la enfermedad de estos pacientes. Permite la aceptación de la enfermedad por parte de los padres de los pacientes, emitir un pronóstico, adelantarnos a las futuras consecuencias de la enfermedad y, en cada vez más casos, instaurar un tratamiento o cambiar el ya establecido. Las técnicas genéticas que permiten estos diagnósticos etiológicos son muy jóvenes y por lo tanto todavía no totalmente asumidas por los neuropediatras. Incluso en las guías de diag nóstico de las diferentes sociedades científicas, sus algoritmos están desfasados por la rápida incorporación de nuevas técnicas. En este artículo se revisan las técnicas actuales así como los últimos avances en las mismas, que se están incorporando a la práctica clínica.


Abstract In more than half of neurodevelopmental disorders, a genetic etiology is demonstrated. The detection of these pathogenic variants has a huge impact on the course of the disease of these patients. It allows the acceptance of the disease by the parents of the patients, issue a prognosis, anticipate the future consequences of the disease and in more and more cases establish a treatment or change the one already established. The genetic techniques that allow these etiological diagnoses are very recent therefore not yet fully assumed by neuropediatricians. Even in the diagnostic guides of the different scientific societies, their algorithms are outdated by the quick incorpora tion of new techniques. This article reviews the current techniques as well as the latest advances in them that are being incorporated into clinical practice.

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