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1.
Rev. enferm. UERJ ; 32: e72201, jan. -dez. 2024.
Artículo en Inglés, Español, Portugués | LILACS-Express | LILACS | ID: biblio-1554065

RESUMEN

Objetivo: estimar a prevalência de Aleitamento Materno Exclusivo (AME) entre gemelares pré-termos e investigar o efeito de nascer gemelar e pré-termo no AME na alta hospitalar. Método: coorte prospectiva de recém-nascidos em uma instituição localizada no Rio de Janeiro, no período de 13 de março de 2017 a 12 de outubro de 2018. Dados coletados em questionário e prontuário médico. Foi utilizado DAG para construção do modelo conceitual, análise exploratória dos dados e regressão logística múltipla. Resultados: a prevalência de AME na alta hospitalar de gemelares pré-termos foi de 47,8%. Pré-termos apresentaram maior chance de não estarem em AME na alta hospitalar. Não gemelares apresentaram maior chance de não estarem em AME na alta hospitalar. Conclusão: pouco mais da metade dos gemelares pré-termo não estavam em AME na alta hospitalar. Prematuros tiveram maior chance de não estarem em AME. Não gemelares pré-termo apresentaram maior chance de não estarem em AME.


Objective: to estimate the prevalence of Exclusive Breastfeeding (EBF) in preterm twins and to investigate the effect of twin and preterm birth on EBF at hospital discharge. Method: prospective cohort of newborns in an institution located in Rio de Janeiro, from March 13, 2017, to October 12, 2018. Data collected through a questionnaire and medical records. A DAG was used to build the conceptual model, exploratory data analysis and multiple logistic regression. Results: prevalence of EBF at hospital discharge of preterm twins of 47.8%. Preterm infants were more likely to not be on EBF at hospital discharge. Non-twins were more likely to not be on EBF at hospital discharge. Conclusion: just over half of preterm twins were not on EBF at hospital discharge. Preterm infants had a greater chance of not being on EBF. Preterm non-twins were more likely to not be on EBF.


Objetivo: estimar la prevalencia de Lactancia Materna Exclusiva (LME) entre gemelos prematuros y investigar el efecto de nacer gemelo y prematuro en la LME al momento del alta hospitalaria. Método: cohorte prospectiva de recién nacidos en una institución ubicada en Rio de Janeiro, entre 13//marzo/2017 y 12/octubre/2018. Los datos se recolectaron mediante cuestionario y expediente médico. Se utilizó DAG para la construcción del modelo conceptual, análisis exploratorio de los datos y regresión logística múltiple. Resultados: la prevalencia de LME en el alta hospitalaria de gemelos prematuros fue del 47,8%. Los prematuros tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Los no gemelares tuvieron mayor probabilidad de no estar en LME en el alta hospitalaria. Conclusión: poco más de la mitad de los gemelos prematuros no estaban en LME en el alta hospitalaria. Los prematuros tuvieron mayor probabilidad de no estar en LME. Los no gemelos prematuros presentaron mayor probabilidad de no estar en LME.

2.
Artículo en Inglés | MEDLINE | ID: mdl-39297899

RESUMEN

BACKGROUND: While age is an important risk factor for both cancer and frailty, it is unclear whether cancer itself increases the risk of frailty. We aimed to assess the association between cancer and frailty in a longitudinal cohort of older Danish twins, taking familial effect into account. METHODS: Using the Danish Cancer Registry, cancer cases were identified among participants aged 70 and over in the Longitudinal Study of Aging Danish Twins (LSADT). Frailty was evaluated over 10 years of follow-up using the frailty index (FI) and defined as FI > 0.21. Stratified Cox regressions were performed on discordant twin pairs (pairs where one twin had incident cancer and the other was cancer-free), and on all LSADT individual twins (twin pairs and singletons) with no history of cancer. RESULTS: Among the 72 discordant pairs (n=144, median age at inclusion=75) included in the study, the median FI at inclusion was 0.08 for both cancer twins and cancer-free co-twins. From the stratified Cox regression, twins with cancer had an increased hazard of developing frailty (HR=3.67, 95%CI=1.02,13.14) compared to their cancer-free co-twins. The analyses on individual twins (n=4,027) provided similar results, showing an increased hazard of frailty in individuals with cancer (HR=2.57, 95%CI= 1.77,3.74) compared to those without cancer. CONCLUSIONS: We showed a higher risk of becoming frail following a cancer diagnosis in both discordant twin pairs and individual twins. These findings support the importance of monitoring of frailty in older adults with cancer through geriatric assessments and implementation of frailty interventions.

3.
Open Res Eur ; 4: 111, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39309189

RESUMEN

Developing inclusive communities is important to enhance individuals' well-being yet this brings the challenge of actively engaging and leveraging the diversity of residents in communities. Such significant social challenges are prominent in Japan, a focus of this article, as the most advanced aging society in the world and thus relevant to European and other countries. This paper explains a major government initiative that takes an innovative approach through leveraging a social technology, a Digital Twin of a community, to understand and address inclusiveness of a community leveraging population approach. The purpose of this letter is to provide researchers and policy makers insights into the approach taken to stimulate reflection on the potential for adaptation and replication.

4.
Cureus ; 16(8): e67328, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39310543

RESUMEN

We present a rare case of dichorionic diamniotic twin anencephaly and exencephaly discovered in a 35-year-old female at 13.1 weeks of gestation. Anencephaly and exencephaly are neural tube defects (NTD) with devastating consequences caused by the failure of the anterior neural groove closure leading to exencephaly, followed by brain disintegration causing anencephaly. While NTD themselves are common congenital anomalies, their presence in both twins of a dichorionic diamniotic gestation is exceedingly rare and has only been documented in one other instance. The uncertainty surrounding risk factors involved in this specific case underscores the importance of ongoing research to elucidate other potential determinants in the pathogenesis of NTD and to discover novel preventive strategies, particularly in twin pregnancies. Future research endeavors should explore the interplay of genetic, environmental, and other anomalous factors to deepen our understanding and improve clinical outcomes for affected pregnancies.

5.
Europace ; 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39259657

RESUMEN

Wolff-Parkinson-White syndrome is a cardiovascular disease characterized by abnormal atrio-ventricular conduction facilitated by accessory pathways (APs). Invasive catheter ablation of the AP represents the primary treatment modality. Accurate localization of APs is crucial for successful ablation outcomes, but current diagnostic algorithms based on the 12 lead electrocardiogram (ECG) often struggle with precise determination of AP locations. In order to gain insight into the mechanisms underlying localization failures observed in current diagnostic algorithms, we employ a virtual cardiac model to elucidate the relationship between AP location and ECG morphology. We first introduce a cardiac model of electrophysiology that was specifically tailored to represent antegrade APs in the form of a short atrio-ventricular bypass tract. Locations of antegrade APs were then automatically swept across both ventricles in the virtual model to generate a synthetic ECG database consisting of 9271 signals. Regional grouping of antegrade APs revealed overarching morphological patterns originating from diverse cardiac regions. We then applied variance-based sensitivity analysis relying on polynomial chaos expansion on the ECG database to mathematically quantify how variation in AP location and timing relates to morphological variation in the 12 lead ECG. We utilized our mechanistic virtual model to showcase limitations of AP localization using standard ECG-based algorithms and provide mechanistic explanations through exemplary simulations. Our findings highlight the potential of virtual models of cardiac electrophysiology not only to deepen our understanding of the underlying mechanisms of Wolff-Parkinson-White syndrome but also to potentially enhance the diagnostic accuracy of ECG-based algorithms and facilitate personalized treatment planning.

6.
Artículo en Inglés | MEDLINE | ID: mdl-39265973

RESUMEN

In this study, a 304 stainless steel (304 SS)/20 carbon steel (20 CS) bimetal was prepared by vacuum diffusion bonding, with 20 CS as the substrate and 304 SS as the cladding layer, and the interfacial microstructure and bonding strength before and after solution treatment were studied. The 304 SS and The 20 CS formed a strong metallurgical bond after being held at 1380 °C for 60 min without defects such as unbonded regions. Diffusion of Cr and Ni atoms from the 304 SS to the 20 CS occurred, and the C atoms diffused from the 20 CS to the 304 SS, forming a carburized region. A pearlitic region with an average width of approximately 20 µm was formed on the 20 CS side. After solution treatment, austenitization was formed in the carburized region, which was accompanied by the formation of twin crystals. The interfacial bonding strength of the bimetal was measured to be 485 MPa, which increased to 547 MPa after the solution treatment.

7.
JMIR Pediatr Parent ; 7: e60039, 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39263890

RESUMEN

Background: In the United States, patients with monochorionic diamniotic twins who undergo in utero fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS) may travel great distances for care. After delivery, many parents cannot return to study sites for formal pediatric evaluation due to geographic location and cost. Objective: The aim of this study was to collect long-term pediatric outcomes in patients who underwent FLP for TTTS. Methods: We assessed the feasibility of using a web-based survey designed in REDCap (Research Electronic Data Capture; Vanderbilt University) to collect parent-reported outcomes in children treated for TTTS at a single center during 2011-2019. Patients with ≥1 neonatal survivor were invited via email to complete 5 possible questionnaires: the child status questionnaire (CSQ); fetal center questionnaire (FCQ); Ages & Stages Questionnaires, Third Edition (ASQ-3); Modified Checklist for Autism in Toddlers, Revised With Follow-Up (M-CHAT-R/F); and thank you questionnaire (TYQ). The R programming language (R Foundation for Statistical Computing) was used to automate survey distribution, scoring, and creation of customized reports. The survey was performed in 2019 and repeated after 12 months in the same study population in 2020. Results: A total of 389 patients in 26 different states and 2 international locations had an email address on file and received an invitation in 2019 to complete the survey (median pediatric age 48.9, IQR 1.0-93.6 months). Among surveyed mothers in 2019, the overall response rate was 37.3% (145/389), and the questionnaire completion rate was 98% (145/148), 87.8% (130/148), 71.1% (81/100), 86.4% (19/22), and 74.3% (110/148) for the CSQ, FCQ, ASQ-3, M-CHAT-R/F, and TYQ, respectively. In 2020, the overall response rate was 57.8% (56/97), and the questionnaire completion rate was 96.4% (54/56), 91.1% (51/56), 86.1% (31/36), 91.7% (11/12), and 80.4% (45/56) for the CSQ, FCQ, ASQ-3, M-CHAT-R/F, and TYQ, respectively. Conclusions: This is the first study to use both REDCap and computer automation to aid in the dissemination, collection, and reporting of surveys to collect long-term pediatric outcomes in the field of fetal medicine.

8.
Math Biosci ; 376: 109287, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39218211

RESUMEN

BACKGROUND: The increased application of immune checkpoint inhibitors (ICIs) targeting PD-1/PD-L1 in lung cancer treatment generates clinical need to reliably predict individual patients' treatment outcomes. METHODS: To bridge the prediction gap, we examine four different mathematical models in the form of ordinary differential equations, including a novel delayed response model. We rigorously evaluate their individual and combined predictive capabilities with regard to the patients' progressive disease (PD) status through equal weighting of model-derived outcome probabilities. RESULTS: Fitting the complete treatment course, the novel delayed response model (R2=0.938) outperformed the simplest model (R2=0.865). The model combination was able to reliably predict patient PD outcome with an overall accuracy of 77% (sensitivity = 70%, specificity = 81%), solely through calibration with primary tumor longest diameter measurements. It autonomously identified a subset of 51% of patients where predictions with an overall accuracy of 81% (sensitivity = 81%, specificity = 81%) can be achieved. All models significantly outperformed a fully data-driven machine learning-based approach. IMPLICATIONS: These modeling approaches provide a dynamic baseline framework to support clinicians in treatment decisions by identifying different treatment outcome trajectories with already clinically available measurement data. LIMITATIONS AND FUTURE DIRECTIONS: Conjoint application of the presented approach with other predictive tools and biomarkers, as well as further disease information (e.g. metastatic stage), could further enhance treatment outcome prediction. We believe the simple model formulations allow widespread adoption of the developed models to other cancer types. Similar models can easily be formulated for other treatment modalities.


Asunto(s)
Inhibidores de Puntos de Control Inmunológico , Neoplasias Pulmonares , Modelos Teóricos , Humanos , Neoplasias Pulmonares/tratamiento farmacológico , Neoplasias Pulmonares/inmunología , Neoplasias Pulmonares/patología , Inhibidores de Puntos de Control Inmunológico/uso terapéutico , Resultado del Tratamiento , Progresión de la Enfermedad , Resistencia a Antineoplásicos
9.
Investig Clin Urol ; 65(5): 487-493, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39249922

RESUMEN

PURPOSE: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD). MATERIALS AND METHODS: This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed. Sequence variants were classified into five different categories, pathogenic, likely pathogenic, variants of uncertain significance, likely benign, and benign, following the American College of Medical Genetics and Genomics Standards and Guidelines. RESULTS: The mean gestational age and birth weight were 35.3±2.0 weeks and 1.96±0.61 kg, respectively, with seven patients being small for gestational age. Hypospadias was present in 12 patients, with posterior type in 33.3% and anterior type in 66.7%. In three families with twins, both siblings had hypospadias. In addition, cryptorchidism was observed in one subject. Surgical correction of hypospadias was performed at a mean age of 22.1 months. Molecular analysis identified 12 different genetic variants, including two pathogenic mutations in the AMH (p.E389*) and SRD5A2 (p.R246Q) genes, found in subjects with hypospadias, respectively. However, only heterozygous mutations were detected. CONCLUSIONS: This study did not identify a definitive genetic component contributing to the development of hypospadias; however, the findings suggest that intrauterine growth retardation may play a significant role.


Asunto(s)
Hipospadias , Gemelos Monocigóticos , Humanos , Masculino , Hipospadias/genética , Hipospadias/cirugía , Gemelos Monocigóticos/genética , Enfermedades en Gemelos/genética , Lactante , Recién Nacido , Mutación
10.
Sci Rep ; 14(1): 21742, 2024 09 18.
Artículo en Inglés | MEDLINE | ID: mdl-39289418

RESUMEN

Vaccine manufacturing fosters the prevention, control, and eradication of infectious diseases. Recombinant DNA and in vitro (IVT) mRNA vaccine manufacturing technologies were enforced to combat the recent pandemic. Despite the impact of these technologies, there exists no scientific announcement that compares them. Digital Shadows are employed in this study to simulate each technology, investigating root cause deviations, technical merits, and liabilities, evaluating cost scenarios. Under this lens we provide an unbiased, advanced comparative technoeconomic study, one that determines which of these manufacturing platforms are suited for the two types of vaccines considered (monoclonal antibodies or antigens). We find recombinant DNA technology to exhibit higher Profitability Index due to lower capital and starting material requirements, pertaining to lower Minimum Selling Price per Dose values, delivering products of established quality. However, the potency of the mRNA, the streamlined and scalable synthetic processes involved and the raw material availability, facilitate faster market penetration and product flexibility, constituting these vaccines preferable whenever short product development cycles become a necessity.


Asunto(s)
ARN Mensajero , ARN Mensajero/genética , ARN Mensajero/inmunología , Humanos , ADN Recombinante/genética , Vacunas/inmunología , Vacunas de ADN/inmunología , Vacunas de ADN/genética , Anticuerpos Monoclonales/inmunología , Desarrollo de Vacunas
11.
Semin Ophthalmol ; : 1-8, 2024 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-39300918

RESUMEN

PURPOSE: The study explores the evolving landscape of cataract diagnosis, focusing on both traditional methods and innovative technological integrations. It aims to address challenges with subjectivity in traditional cataract grading and to evaluate how new technologies can enhance diagnostic accuracy and accessibility. METHODS: The research introduces and examines the use of Artificial Intelligence (AI), Machine Learning (ML), and Deep Learning (DL) in automating and improving cataract screening processes. It also explores the role of the Metaverse, Digital Twins, and Teleophthalmology for immersive patient education, real-time virtual replicas of eyes, and remote access to specialized care. RESULTS: Various ML and DL techniques demonstrated significant accuracy in cataract detection. The integration of these technologies, along with the Metaverse, Digital Twins, and Teleophthalmology, provides a comprehensive framework for accurate and accessible cataract diagnosis. CONCLUSION: There is a notable paradigm shift toward individualized, predictive, and transformative eye care. The advancements in technology address existing diagnostic challenges and mitigate the shortage of ophthalmologists by extending high-quality care to underserved regions. These developments pave the way for improved cataract management and broader accessibility.

12.
Sci Rep ; 14(1): 21261, 2024 09 11.
Artículo en Inglés | MEDLINE | ID: mdl-39261679

RESUMEN

Whether differences in lifestyle between co-twins are reflected in differences in their internal or external exposome profiles remains largely underexplored. We therefore investigated whether within-pair differences in lifestyle were associated with within-pair differences in exposome profiles across four domains: the external exposome, proteome, metabolome and epigenetic age acceleration (EAA). For each domain, we assessed the similarity of co-twin profiles using Gaussian similarities in up to 257 young adult same-sex twin pairs (54% monozygotic). We additionally tested whether similarity in one domain translated into greater similarity in another. Results suggest that a lower degree of similarity in co-twins' exposome profiles was associated with greater differences in their behavior and substance use. The strongest association was identified between excessive drinking behavior and the external exposome. Overall, our study demonstrates how social behavior and especially substance use are connected to the internal and external exposomes, while controlling for familial confounders.


Asunto(s)
Exposoma , Estilo de Vida , Humanos , Femenino , Masculino , Adulto , Adulto Joven , Gemelos Monocigóticos , Metaboloma , Proteoma/metabolismo , Epigénesis Genética
13.
J Clin Med ; 13(17)2024 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-39274284

RESUMEN

Background: Intrauterine transfusion (IUT) of the donor and partial exchange (pET) of the recipient is a temporizing treatment for pregnancies with Twin Anemia Polycythemia Sequence (TAPS). We aimed to provide a detailed description of the procedural approach and outcomes for sequential donor IUT and recipient pET in TAPS. Methods: Retrospective study of spontaneous TAPS referred to the Johns Hopkins Center for Fetal Therapy treated with donor IUT followed by recipient pET utilizing a double-syringe setup. Procedural characteristics and outcomes as well as the accuracy of existing transfusion formulas were analyzed and compared with the literature. Results: 5 of 78 patients with spontaneous TAPS underwent a total of 19 combined IUT/pET procedures (median first procedure to delivery interval 5.6 weeks [interquartile range IQR 1.9-6.0]). One pET was stopped due to fetal deceleration. The patients were delivered at 33.0 weeks [IQR 31.9-33.3] with two survivors and no neonatal transfusion requirements. The IUT volume was 48 mL [IQR 39-63 mL] and the pET volume was 32 mL [IQR 20-50], utilizing aliquots of 5-20 mL for the latter (p = 0.021). For the IUTs, the assumption of a fetal blood volume below 150 mL/kg underestimated the required transfusion volume. For the pETs, all formulas required adjustment of the dilution volume based on bedside testing (p < 0.05 for all). Conclusions: Donor transfusion followed by partial exchange in the recipient can prolong pregnancy in spontaneous TAPS and obviate the need for neonatal transfusion. A double-syringe setup facilitates efficient saline exchange. Because the accuracy of volume formulas is limited, bedside testing is recommended to achieve the target hemoglobin.

14.
Adv Child Dev Behav ; 67: 273-298, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39260906

RESUMEN

Twin bonds, likely the most enduring of human relationships, provide both solace and rivalry for twins. Using an evolutionary psychology perspective, this chapter scrutinizes twins' bonds from prenatal stages to childhood to better understand their unique relationships. Twins' interactions, which begin in the womb, establish patterns of cooperation and competition. The initial years pose parenting challenges that shape the twins' experiences of dependency and rivalry. As twins grow, five dimensions-closeness, dependence, conflict, rivalry, and dominance-emerge, evolving distinctly between monozygotic twins (MZ: sharing close to 100% of their genes) and dizygotic twins (DZ: sharing on average 50% of their genetic variance). The chapter notes the closer relationship MZ twins share compared to DZ twins. While the closeness and dependence among DZ twins decline throughout childhood, these elements remain stable in MZ twins. The effect of zygosity on conflict and rivalry is less clear. For both MZ and DZ twins, conflict stays steady, while rivalry intensifies with school entry, probably driven by external comparisons, but lessens as twins develop into late childhood. Unlike singletons, where birth order dictates dominance dynamics, in twins, this dynamic is more variable and becomes more defined by around 6.5 years of age. Several factors are presented as impacting the nature of the twins' relationships: the evolvement of 'twin language', the parenting style and the differential parenting they receive. This exploration into the development of twins' relationships underlines the importance of tailored caregiving and invites further research into the genetic and environmental factors that shape close bonds.


Asunto(s)
Desarrollo Infantil , Gemelos Dicigóticos , Gemelos Monocigóticos , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Relaciones Interpersonales , Apego a Objetos , Responsabilidad Parental , Gemelos Dicigóticos/psicología , Gemelos Monocigóticos/psicología
15.
Eur J Orthod ; 46(5)2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39271130

RESUMEN

OBJECTIVES: This study aimed to determine the relative contribution of genetic and environmental factors in the phenotypic variation of the soft tissue facial profile during the mixed dentition and the permanent dentition stages. METHODS: In this retrospective cohort study, standardized facial profile photographs of 139 twin pairs (55 monozygotic and 84 dizygotic) were obtained from archival records at the Adelaide Dental School. Photographic analysis used 12 angular and 14 linear facial profile measurements from the mixed dentition (7-11 years) to the permanent dentition (12-17 years) stages. A genetic analysis was performed using a univariate structural equation model adhering to the normal assumptions of a twin model. RESULTS: In the mixed dentition stage, the additive genetic (A) and unique environment (E) model, AE model, was the most parsimonious in explaining the observed phenotypic variance for all 26 facial traits with the narrow-sense heritability estimates ranging between 0.38 and 0.79. In the permanent dentition, the AE model was the most parsimonious for 20 out of 26 traits, however, the variance of six traits, particularly those in the lower third of the face, was best explained by the shared environmental and unique environmental factors. LIMITATIONS: This study exclusively included twins of European ancestry. CONCLUSIONS: The soft tissue facial profile demonstrated dynamic genetic and environmental influences with a greater additive genetic influence during the mixed dentition and the early stages of the permanent dentition. However, there was evidence of increasing environmental influence in the lower third of the face during the early stages of the permanent dentition.


Asunto(s)
Dentición Mixta , Cara , Humanos , Cara/anatomía & histología , Masculino , Niño , Femenino , Adolescente , Estudios Retrospectivos , Gemelos Monocigóticos/genética , Fenotipo , Interacción Gen-Ambiente , Gemelos Dicigóticos/genética , Dentición Permanente , Cefalometría , Desarrollo Maxilofacial/genética , Ambiente
16.
Eur Heart J ; 2024 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-39322420

RESUMEN

Digital twins, which are in silico replications of an individual and its environment, have advanced clinical decision-making and prognostication in cardiovascular medicine. The technology enables personalized simulations of clinical scenarios, prediction of disease risk, and strategies for clinical trial augmentation. Current applications of cardiovascular digital twins have integrated multi-modal data into mechanistic and statistical models to build physiologically accurate cardiac replicas to enhance disease phenotyping, enrich diagnostic workflows, and optimize procedural planning. Digital twin technology is rapidly evolving in the setting of newly available data modalities and advances in generative artificial intelligence, enabling dynamic and comprehensive simulations unique to an individual. These twins fuse physiologic, environmental, and healthcare data into machine learning and generative models to build real-time patient predictions that can model interactions with the clinical environment to accelerate personalized patient care. This review summarizes digital twins in cardiovascular medicine and their potential future applications by incorporating new personalized data modalities. It examines the technical advances in deep learning and generative artificial intelligence that broaden the scope and predictive power of digital twins. Finally, it highlights the individual and societal challenges as well as ethical considerations that are essential to realizing the future vision of incorporating cardiology digital twins into personalized cardiovascular care.

17.
J Clin Ultrasound ; 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39295571

RESUMEN

OBJECTIVE: To evaluate the application and effectiveness of prenatal ultrasound in diagnosing and managing conjoined twins. METHODS: A retrospective analysis was conducted on 20 cases of conjoined twins diagnosed at our hospital between January 2016 and December 2022. The types of conjoined twins, ultrasonographic characteristics, and associated anomalies were assessed. RESULTS: The gestational age at diagnosis ranged from 10 to 35 weeks, with an average of 14.21 ± 5.69 weeks. Thirteen cases were detected in the first trimester, five in the early second trimester, one at 23 + 2 weeks, and one at 35 weeks. Thoracopagus was the most common type (11 cases, 55%), followed by omphalopagus (4 cases, 20%), cephalopagus (4 cases, 20%), and parapagus dicephalus (1 case, 5%). In the first trimester, the most common abnormalities observed included increased nuchal translucency (NT), cystic hygroma, hydrops fetalis, and generalized edema. Major birth defects identified in conjoined twins were omphalocele (3 cases), congenital heart malformations (3 cases), neural tube defects (2 cases), urachal cyst (1 case), and umbilical cyst (1 case). Pregnancy was terminated in 18 cases, one case resulted in spontaneous abortion during the second trimester, and one case was delivered by cesarean section at 37 weeks, with successful separation and recovery. CONCLUSION: Prenatal ultrasound is the primary diagnostic tool for conjoined twins. It effectively assesses the extent of twin fusion, provides critical information for clinical decision-making, and aids in the management of obstetric care.

18.
Artículo en Inglés | MEDLINE | ID: mdl-39299707

RESUMEN

BACKGROUND: Food fussiness (FF) describes the tendency to eat a small range of foods, due to pickiness and/or reluctance to try new foods. A common behaviour during childhood, and a considerable cause of caregiver concern; its causes are poorly understood. This is the first twin study of genetic and environmental contributions to the developmental trajectory of FF from toddlerhood to early adolescence, and stability and change over time. METHODS: Participants were from Gemini, a population-based British cohort of n = 4,804 twins born in 2007. Parents reported on FF using the Child Eating Behaviour Questionnaire 'FF' scale when children were 16 months (n = 3,854), 3 (n = 2,666), 5 (n = 2,098), 7 (n = 703), and 13 years old (n = 970). A mixed linear model examined the trajectory of FF, and a correlated factors twin model quantified genetic and environmental contributions to variation in and covariation between trajectory parameters. A longitudinal Cholesky twin model examined genetic and environmental influences on FF at each discrete age. RESULTS: We modelled a single FF trajectory for all children, which was characterised by increases from 16 months to 7 years, followed by a slight decline from 7 to 13 years. All trajectory parameters were under strong genetic influence (>70%) that was largely shared, indicated by high genetic correlations. Discrete age analyses showed that genetic influence on FF increased significantly after toddlerhood (16 months: 60%, 95% CI: 53%-67%; 3 years: 83%; 81%-86%), with continuing genetic influence as indicated by significant genetic overlap across every age. Shared environmental influences were only significant during toddlerhood. Unique environmental influences explained 15%-26% of the variance over time, with some enduring influence from 5 years onwards. CONCLUSIONS: Individual differences in FF were largely explained by genetic factors at all ages. Fussy eating also shows a significant proportion of environmental influence, especially in toddlerhood, and may, therefore, benefit from early interventions throughout childhood. Future work needs to refine the FF trajectory and explore specific trajectory classes.

19.
Stud Health Technol Inform ; 318: 180-181, 2024 Sep 24.
Artículo en Inglés | MEDLINE | ID: mdl-39320206

RESUMEN

Digital twins offer potential to enhance the precision and personalisation of healthcare delivery. As part of a collaborative project between La Trobe University and the Murdoch Children's Research Institute, Melbourne, Australia, multidimensional 'omics-based digital twins of children are being developed. The aim is to explore their application to a range of health contexts in children. A pilot project is commencing that focuses on food allergy diagnosed at one year of age.


Asunto(s)
Medicina de Precisión , Humanos , Niño , Lactante , Hipersensibilidad a los Alimentos , Pediatría , Genómica , Proyectos Piloto
20.
J Clin Ultrasound ; 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39223774

RESUMEN

We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome. This case represents the first documented instance of prenatally identified identical twins affected by 17q12 deletion syndrome.

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