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1.
Acta Paediatr ; 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39262313

RESUMEN

AIM: Having a child with congenital heart disease (CHD) is stressful for parents, but research on the impact this stress can have on child development has been lacking. We investigated the associations between parenting stress when children were infants and neurodevelopmental outcomes in toddlers with CHD. METHODS: This study was carried out at the Neurocardiac Clinic at the Sainte-Justine University Hospital in Montréal, Canada. Patients born from 2012 to 2019 and followed up to 24 months of age were recruited. Parenting stress levels were measured when the child was 4-6 months and 24 months and the child's neurodevelopment was assessed at 24 months. Multiple linear regressions analyses were carried out. RESULTS: We studied 100 children (56% boys) with CHD. Most of the parenting stress scores were below the clinical threshold. However, they accounted for a significant part of the variance in the children's cognitive (15%-16%), receptive language (14%-15%) and gross motor outcomes (15%-18%). They had no impact on the children's expressive language or fine motor outcomes. CONCLUSION: Higher parenting stress was associated with poorer neurodevelopmental outcomes in toddlers with CHD. Early screening of parenting stress in CHD clinics is necessary to provide individualised intervention for parents and optimise neurodevelopmental outcomes in children.

2.
Health Promot Pract ; : 15248399241255375, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38819174

RESUMEN

Youth violence is a preventable public health issue. Few hospital-based programs intentionally focus on youth violence prevention. This project aimed to describe the Systematic Screening and Assessment (SSA) methodology used to identify existing hospital-based youth violence prevention (HBYVP) programs ready for future rigorous evaluation. To identify promising HBYVP programs currently in use and assess readiness for evaluation, data from the 2017 American Hospital Association (AHA) Annual Survey of Hospitals was used to identify hospitals with Level I-III trauma centers with reported HBYVP programs. Information for each program was gathered via environmental scan and key informant interviews. A total of 383 hospital-based violence prevention programs were identified. Two review panels were conducted with violence prevention experts to identify characteristics of programs suitable for an evaluability assessment (EA). Fifteen programs focused on youth (10-24 years old) and were identified to be promising and evaluable. Three of the 15 programs were determined to have the infrastructure and readiness necessary for rigorous evaluation. Lessons learned and best practices for SSA project success included use of streamlined outreach efforts that provide program staff with informative and culturally tailored project materials outlining information about the problem, project goals, proposed SSA activities, and altruistic benefit to the community at the initial point of contact. In addition, success of review panels was attributed to use of software to streamline panelist review processes and use of evaluation and data analysis subject matter experts to serve as panel facilitators. Communities experiencing high youth violence burden and hospitals serving these communities can improve health outcomes among youth by implementing and evaluating tailored HBYVP programs.

3.
Medicina (Kaunas) ; 60(2)2024 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-38399532

RESUMEN

Diabetic retinopathy (DR) is a major microvascular complication of diabetes, affecting a substantial portion of diabetic patients worldwide. Timely intervention is pivotal in mitigating the risk of blindness associated with DR, yet early detection remains a challenge due to the absence of early symptoms. Screening programs have emerged as a strategy to address this burden, and this paper delves into the role of artificial intelligence (AI) in advancing DR screening in Japan. There are two pathways for DR screening in Japan: a health screening pathway and a clinical referral path from physicians to ophthalmologists. AI technologies that realize automated image classification by applying deep learning are emerging. These technologies have exhibited substantial promise, achieving sensitivity and specificity levels exceeding 90% in prospective studies. Moreover, we introduce the potential of Generative AI and large language models (LLMs) to transform healthcare delivery, particularly in patient engagement, medical records, and decision support. Considering the use of AI in DR screening in Japan, we propose to follow a seven-step framework for systematic screening and emphasize the importance of integrating AI into a well-designed screening program. Automated scoring systems with AI enhance screening quality, but their effectiveness depends on their integration into the broader screening ecosystem. LLMs emerge as an important tool to fill gaps in the screening process, from personalized invitations to reporting results, facilitating a seamless and efficient system. However, it is essential to address concerns surrounding technical accuracy and governance before full-scale integration into the healthcare system. In conclusion, this review highlights the challenges in the current screening pathway and the potential for AI, particularly LLM, to revolutionize DR screening in Japan. The future direction will depend on leadership from ophthalmologists and stakeholders to address long-standing challenges in DR screening so that all people have access to accessible and effective screening.


Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Humanos , Inteligencia Artificial , Retinopatía Diabética/diagnóstico , Japón , Tamizaje Masivo , Estudios Prospectivos
4.
BMC Health Serv Res ; 22(1): 732, 2022 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-35655301

RESUMEN

BACKGROUND: Tuberculosis (TB) is the leading cause of death from a single infectious agent globally, killing about 1.5 million people annually, yet 3 million cases are missed every year. The World Health Organization recommends systematic screening of suspected active TB patients among those visiting the healthcare facilities. While many countries have scaled-up systematic screening of TB, there has been limited assessment of the extent of its integration into the health system. This study sought to explore factors that shape the integration of systematic screening of TB in outpatient departments of primary healthcare facilities in Kitwe district, Zambia. METHODS: This was a qualitative case study with health providers including district managers, TB focal point persons and laboratory personnel working in six purposively selected primary healthcare facilities. Data was collected through key informant (n = 8) and in-depth (n = 15) interviews. Data analysis was conducted using QDA Miner software and guided by Atun's Integration framework. RESULTS: The facilitators to integration of systematic screening for TB into out patient departments of primary health facilities included the perceived high burden TB, compatibility of the systematic screening for TB program with healthcare workers training and working schedules, stakeholder knowledge of each others interest and values, regular performance management and integrated outreach of TB screening services. Constraining factors to integration of systematic screening for TB into outpatient departments included complexity of screening for TB in children, unbalanced incentivization mechanisms, ownership and legitimacy of the TB screening program, negative health worker attitudes, social cultural misconceptions of TB and societal stigma as well as the COVID-19 pandemic. CONCLUSION: Systematic screening of TB is not fully integrated into the primary healthcare facilities in Zambia to capture all those suspected with active TB that make contact with the health system. Finding the missing TB cases will, therefore, require contextual adaptation of the systematic screening for TB program to local needs and capacities as well as strengthening the health system.


Asunto(s)
COVID-19 , Tuberculosis , Niño , Humanos , Pacientes Ambulatorios , Pandemias , Atención Primaria de Salud , Tuberculosis/diagnóstico , Tuberculosis/epidemiología , Tuberculosis/prevención & control , Zambia/epidemiología
5.
Educ Treat Children ; 45(3): 245-262, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35919259

RESUMEN

Research conducted to date has highlighted barriers to initial adoption of universal behavior screening in schools. However, little is known regarding the experiences of those implementing these procedures and there have been no studies conducted examining the experiences of educators in different stages of implementing various tiered systems of supports. Universal screening is foundational to a successful Comprehensive, Integrated Three-Tiered (Ci3T) model of prevention-an integrated tiered system addressing academics, behavior, and social and emotional well-being. Therefore, the perspectives of Ci3T Leadership Team members at different stages of Ci3T implementation were solicited through an online survey that sought to understand (1) current school-based screening practices and (2) individual beliefs regarding those practices. A total of 165 Ci3T Leadership Team members representing five school districts from three geographic regions across the United States, all of whom were participating in an Institute of Education Sciences Network grant examining integrated tiered systems, reported the screening procedures were generally well-understood and feasible to implement. At the same time, results highlighted continuing professional learning may be beneficial in the areas of: (1) integrating multiple sources of data (e.g., screening data with other data collected as regular school practices) and (2) using those multiple data sources to determine next steps for intervention. We discuss educational implications, limitations, and directions for future inquiry.

6.
Clin Infect Dis ; 72(12): 2215-2217, 2021 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-32710743

RESUMEN

To assess the relevance of systematic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) screening of all children admitted to hospital, we conducted a prospective multicenter study including 438 consecutive hospitalized children. A symptom-based SARS-CoV-2 testing strategy failed to identify 45% (95% confidence interval, 24%-68%) of hospitalized children infected by SARS-CoV-2. To limit intrahospital transmission, a systematic screening of children admitted to hospital should be considered.


Asunto(s)
COVID-19 , SARS-CoV-2 , Prueba de COVID-19 , Niño , Hospitales , Humanos , Estudios Prospectivos
7.
J Perinat Med ; 48(9): 977-980, 2020 Nov 26.
Artículo en Inglés | MEDLINE | ID: mdl-33085639

RESUMEN

Objectives The burden of undocumented SARS-Cov-2 infections in Portuguese pregnant women is unknown. At our institution, routine COVID-19 testing was implemented from 19th of March on to all pregnant women who were admitted for delivery. The purpose of the study was to estimate the SARS-CoV-2 infection rate in our obstetric population admitted for delivery. Mathods Between 19th March and May 4th, 184 pregnant women were screened for SARS-CoV-2 infection upon admission. Results Eleven women were positive for SARS-CoV-2, corresponding to a global prevalence of 6.0%. Of these, only two reported symptoms at admission. The prevalence of asymptomatic infection was 4.9%. We report a lower rate of positive cass than other studies. Eighty-two percent of our cases had no symptoms at admission. Conclusions The proportion of asymptomatic infection highlights the importance of universal laboratory screening for all women admitted for delivery as opposed to symptom-based screening.


Asunto(s)
Betacoronavirus , Técnicas de Laboratorio Clínico , Infecciones por Coronavirus/diagnóstico , Parto Obstétrico , Neumonía Viral/diagnóstico , Complicaciones Infecciosas del Embarazo/diagnóstico , Adulto , Infecciones Asintomáticas/epidemiología , Betacoronavirus/genética , Betacoronavirus/aislamiento & purificación , COVID-19 , Prueba de COVID-19 , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/epidemiología , Femenino , Hospitalización , Humanos , Pandemias , Neumonía Viral/complicaciones , Neumonía Viral/epidemiología , Portugal/epidemiología , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , SARS-CoV-2
10.
Int J Infect Dis ; 141S: 106980, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38403111

RESUMEN

OBJECTIVES: Outline the objectives, methods, and initial stages of the Prevention and Systematic Screening (PASS) initiative, a complimentary element of the innovative new approach of technical assistance mechanisms of WHO and its partners to countries aligned to the Regional TB Action Plan to End TB in the European Region by 2030. DESIGN: To provide an objective and critical overview of the existing landscape on TB epidemic in the WHO European Region (the European Region) and ii) identify the strategic significance of proactive measures aimed at approaching TB pre-elimination in the Region. RESULTS: Interventions primarily include systematic screening for TB disease and treatment for TB infection (TBI). CONCLUSIONS: PASS to End TB is an exemplary initiative of how technical and funding partners are joining hands to support national health programmes to work towards global commitments to curb major public health challenges like TB.


Asunto(s)
Tuberculosis , Humanos , Tuberculosis/diagnóstico , Tuberculosis/epidemiología , Tuberculosis/prevención & control , Europa (Continente)/epidemiología , Salud Pública , Organización Mundial de la Salud
11.
SAGE Open Med ; 12: 20503121241233232, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38379811

RESUMEN

Background: Chest X-ray has been included in national tuberculosis screening algorithms as a sensitive tuberculosis screening tool among high-risk groups. However, the implementation was influenced by multiple factors. We aimed to explore facilitators and barriers to implementing chest X-ray in systematic tuberculosis screening of clinically high-risk groups in Addis Ababa, Ethiopia. Methods: We conducted face-to-face, in-depth interviews with purposively selected participants at tertiary-level hospitals and a tuberculosis program coordinator at the Ethiopian Ministry of Health, who coordinates chest X-ray-guided systematic tuberculosis screening. A framework analysis was conducted using the consolidated framework for implementation research. Results: We identified 11 constructs that influenced the implementation of the chest X-ray intervention. Facilitators included the relative sensitivity of chest X-ray over symptom-based screening, its potential integration into existing systems, technological advancements in the area, policies and laws supporting the screening intervention, and the quality of the evidence of the screening intervention. Barriers included implementation complexity, high costs of the intervention, knowledge gaps among healthcare providers, training gaps, low priority for chest X-ray screening at the healthcare facility level, and a lack of external support from the Ministry of Health and stakeholders. Conclusion: This study identified contextual factors that influence the implementation of chest X-ray guided systematic tuberculosis screening among clinically high-risk groups that healthcare facilities and health ministries may use for decision-making. Addressing the barriers identified by the study would help to improve the implementation of chest X-rays for improved tuberculosis case detection and prompt treatment in clinically high-risk groups.

12.
Arch Pediatr ; 31(3): 176-178, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38326150

RESUMEN

BACKGROUND: Since the beginning of the pandemic, children's role in the transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been debated. We aimed to describe the prevalence of SARS-CoV-2 in asymptomatic children undergoing institutional systematic screening. METHODS: From 2020 to 2021, this retrospective study in a French university hospital included consecutive asymptomatic children routinely screened for SARS-CoV-2 infection by polymerase chain reaction (PCR) assay before surgery. RESULTS: Among the 816 test samples, the prevalence of positive PCR results was 0.49 % (95 % CI: 0.01-0.97, n = 4); half of the cases involved close contacts with an adult case. CONCLUSION: These results support the low prevalence of SARS-CoV-2 in asymptomatic children during the first pandemic periods in France.


Asunto(s)
COVID-19 , SARS-CoV-2 , Adulto , Niño , Humanos , COVID-19/diagnóstico , COVID-19/epidemiología , Estudios Retrospectivos , Pandemias , Prevalencia
13.
Trop Med Infect Dis ; 9(9)2024 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-39330903

RESUMEN

Tuberculosis, caused by the Mycobacterium tuberculosis (Mtb) bacteria, is one of the world's deadliest infectious diseases. Despite being the world's oldest pandemic, tuberculosis is very much a challenge of the modern era. In high-incidence settings, all people are at risk, irrespective of whether they have common vulnerabilities to the disease warranting the current WHO recommendations for community-wide tuberculosis active case finding in these settings. Despite good evidence of effectiveness in reducing tuberculosis transmission, uptake of this strategy has been lacking in the communities that would derive greatest benefit. We consider the various complexities in eliminating tuberculosis from the first principles of the disease, including diagnostic and other challenges that must be navigated under an elimination agenda. We make the case that community-wide tuberculosis active case finding is the best strategy currently available to drive elimination forward in high-incidence settings and that no time should be lost in its implementation. Recognizing that high-incidence communities vary in their epidemiology and spatiosocial characteristics, tuberculosis research and funding must now shift towards radically supporting local implementation and operational research in communities. This "preparing of the ground" for scaling up to community-wide intervention centers the local knowledge and local experience of community epidemiology to optimize implementation practices and accelerate reductions in community-level tuberculosis transmission.

14.
Int J Infect Dis ; 136: 37-42, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37669725

RESUMEN

BACKGROUND: Little is known about the incidence of influenza among admissions to the cardiac intensive care unit (C-ICU), accuracy of clinical suspicion, and influenza vaccination uptake. We evaluated the incidence of influenza at C-ICU admission during the influenza season, potential underdiagnosis, and vaccination uptake. METHODS: Prospective study at five C-ICUs during the 2017-2020 influenza seasons. A nasopharyngeal swab was collected at admission from patients who consented (n = 788). Testing was with Xpert®XpressFlu/RSV. RESULTS: Influenza was detected in 43 patients (5.5%) (40 FluA; 3 FluB) and clinically suspected in 27 (62.8%). Compared to patients without influenza, patients with influenza more frequently had heart failure (37.2% vs 22.8%, P = 0.031), previous contact with relatives with influenza-like illnesses (23.3% vs 12.5%, P = 0.042), antimicrobial use (67.4% vs 23.2%, P <0.01), and need for mechanical ventilation (25.6% vs 14.5%, P = 0.048). Patients received oseltamivir promptly. We found no differences in mortality (11.6% vs 5.2%, P = 0.076). Patients with influenza more frequently had myocarditis (9.3% vs 0.9%, P <0.01) and pericarditis (7.0% vs 0.8%, P = 0.01). Overall, 43.0% of patients (339/788) were vaccinated (51.9% of those with a clear indication [303/584]). CONCLUSION: Influenza seems to be a frequently underdiagnosed underlying condition in admissions to the C-ICU. Influenza should be screened for at C-ICU admission during influenza epidemics.


Asunto(s)
Gripe Humana , Humanos , Gripe Humana/diagnóstico , Gripe Humana/tratamiento farmacológico , Gripe Humana/epidemiología , Estudios Prospectivos , Estaciones del Año , España/epidemiología , Unidades de Cuidados Intensivos
15.
Artículo en Inglés | MEDLINE | ID: mdl-36981979

RESUMEN

Occupational lung cancer cases remain largely under-reported and under-compensated worldwide. In order to improve the detection and compensation of work-related lung cancers, we implemented a systematic screening of occupational exposures, combining a validated self-administered questionnaire to assess occupational exposures and a specialized occupational cancer consultation. After a pilot study, the present prospective, open-label, scale-up study aimed to assess this systematic screening of occupational exposures in lung cancer patients in five sites in France by associating university hospitals with cancer centers. Patients with lung cancer were sent a self-administered questionnaire to collect their job history and potential exposure to lung carcinogens. The questionnaire was assessed by a physician to determine if a specialized occupational cancer consultation was required. During the consultation, a physician assessed if the lung cancer was occupation-related and, if it was, delivered a medical certificate to claim for compensation. Patients were offered help from a social worker for the administrative procedure. Over 15 months, 1251 patients received the questionnaire and 462 returned it (37%). Among them, 176 patients (38.1%) were convened to the occupational cancer consultation and 150 patients attended the consultation. An exposure to occupational lung carcinogen was identified in 133 patients and a claim for compensation was judged possible for 90 patients. A medical certificate was delivered to 88 patients and 38 patients received compensation. Our national study demonstrated that a systematic screening of occupational exposures is feasible and will bring a significant contribution to improve the detection of occupational exposures in lung cancer patients.


Asunto(s)
Neoplasias Pulmonares , Enfermedades Profesionales , Exposición Profesional , Humanos , Estudios Prospectivos , Proyectos Piloto , Detección Precoz del Cáncer , Enfermedades Profesionales/diagnóstico , Exposición Profesional/efectos adversos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiología
16.
Front Med (Lausanne) ; 10: 1275140, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37908846

RESUMEN

In recognition of the high rates of undetected tuberculosis in the community, the World Health Organization (WHO) encourages targeted active case finding (ACF) among "high-risk" populations. While this strategy has led to increased case detection in these populations, the epidemic impact of these interventions has not been demonstrated. Historical data suggest that population-wide (untargeted) ACF can interrupt transmission in high-incidence settings, but implementation remains lacking, despite recent advances in screening tools. The reservoir of latent infection-affecting up to a quarter of the global population -complicates elimination efforts by acting as a pool from which future tuberculosis cases may emerge, even after all active cases have been treated. A holistic case finding strategy that addresses both active disease and latent infection is likely to be the optimal approach for rapidly achieving sustainable progress toward TB elimination in a durable way, but safety and cost effectiveness have not been demonstrated. Sensitive, symptom-agnostic community screening, combined with effective tuberculosis treatment and prevention, should eliminate all infectious cases in the community, whilst identifying and treating people with latent infection will also eliminate tomorrow's tuberculosis cases. If real strides toward global tuberculosis elimination are to be made, bold strategies are required using the best available tools and a long horizon for cost-benefit assessment.

17.
Eur J Intern Med ; 105: 38-45, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35953337

RESUMEN

BACKGROUND: Randomized controlled trials (RCTs) investigating the optimal screening strategy for atrial fibrillation (AF) have yielded conflicting results. OBJECTIVE: To examine the comparative efficacy of different AF screening strategies in older adults. METHODS: We searched MEDLINE, EMBASE and Cochrane without language restrictions through January 2022, for RCTs evaluating the outcomes of non-invasive AF screening approaches among adults ≥65 years. We conducted a pairwise meta-analysis comparing any AF screening approach versus no screening, and a network meta-analysis comparing systematic screening versus opportunistic screening versus no screening. The primary outcome was new AF detection. RESULTS: The final analysis included 9 RCTs with 85,209 patients. The weighted median follow-up was 12 months. The mean age was 73.4 years and men represented 45.6%. On pairwise meta-analysis, any AF screening (either systematic or opportunistic) was associated with higher AF detection (1.8% vs. 1.3%; risk ratio [RR] 2.10; 95% confidence interval [CI] 1.20-3.65) and initiation of oral anticoagulation (RR 3.26; 95%CI 1.15-9.23), compared with no screening. There was no significant difference between any AF screening versus no screening in all-cause mortality (RR 0.97; 95%CI 0.93-1.01) or acute cerebrovascular accident (CVA) (RR 0.92; 95%CI 0.84-1.01). On network meta-analysis, only systematic screening was associated with higher AF detection (RR 2.73; 95% CI 1.62-4.59) and initiation of oral anticoagulation (RR 5.67; 95% CI 2.68-11.99), but not with the opportunistic screening, compared with no screening. CONCLUSION: Systematic AF screening using non-invasive tools was associated with higher rate of new AF detection and initiation of OAC, but opportunistic screening was not associated with higher detection rates. There were no significant differences between the various AF screening approaches with respect to rates of all-cause mortality or CVA events. However, these analyses are likely underpowered and future RCTs are needed to examine the impact of systematic AF screening on mortality and CVA outcomes. PRIMARY FUNDING SOURCE: None.


Asunto(s)
Fibrilación Atrial , Masculino , Humanos , Anciano , Fibrilación Atrial/diagnóstico , Metaanálisis en Red , Ensayos Clínicos Controlados Aleatorios como Asunto , Tamizaje Masivo/métodos , Anticoagulantes
18.
Drug Test Anal ; 14(2): 377-381, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34490751

RESUMEN

Colchicum autumnale, which can be mistaken for Allium ursinum, contains the alkaloid colchicine potentially leading to life-threatening up to fatal intoxications. We report two cases of acute intoxications with unexplained circumstances. Using the authors' systematic screening approaches, colchicine could be detected in blood plasma and urine samples using liquid chromatography coupled to linear ion trap mass spectrometry (LC-ITMSn ) and high-resolution tandem mass spectrometry (LC-HRMS/MS). Metabolites of colchicine could be identified in urine for confirmation of screening results. Gas chromatography-mass spectrometry (GC-MS) analysis was also conducted, but colchicine could not be detected. Furthermore, colchicine concentration was estimated via LC-HRMS/MS in plasma samples. Results of the systematic screening indicated the ingestion of colchicine from both subjects. In both cases, the parent compound was detected in blood plasma and urine using the LC-HRMS/MS and LC-ITMSn system. An O-demethylation metabolite was identified in urine samples of both subjects using LC-HRMS/MS; the N-deacetylation product was also found in urine samples of both cases via LC-HRMS/MS and LC-ITMSn . The use of LC-ITMSn resulted only in the detection of the O-demethylation product in case 2. Plasma concentrations were estimated at 2.5 ng/ml and 4.7 ng/ml for cases 1 and 2, respectively. We demonstrated the detection of this highly toxic alkaloid in blood plasma and urine using a time-saving and reliable clinical systematic screening. Furthermore, we identified metabolites of colchicine being rarely discussed in literature, which can be used as additional screening targets.


Asunto(s)
Colchicina , Plantas Tóxicas , Cromatografía Liquida/métodos , Cromatografía de Gases y Espectrometría de Masas/métodos , Humanos , Espectrometría de Masas en Tándem/métodos
19.
Front Genet ; 13: 854907, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35571036

RESUMEN

The integrity of the genome is governed by multiple processes to ensure optimal survival and to prevent the inheritance of deleterious traits. While significant progress has been made to characterize components involved in the DNA Damage Response (DDR), little is known about the interplay between RNA processing and the maintenance of genome stability. Here, we describe the emerging picture of an intricate bidirectional coupling between RNA processing and genome integrity in an integrative manner. By employing insights from a recent large-scale RNAi screening involving the depletion of more than 170 components that direct (alternative) polyadenylation, we provide evidence of bidirectional crosstalk between co-transcriptional RNA 3'end processing and the DDR in a manner that optimizes genomic integrity. We provide instructive examples illustrating the wiring between the two processes and show how perturbations at one end are either compensated by buffering mechanisms at the other end, or even propel the initial insult and thereby become disease-eliciting as evidenced by various disorders.

20.
Front Surg ; 9: 995949, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36386514

RESUMEN

Developmental dysplasia of the hip (DDH) is the most common congenital disease of the musculoskeletal system in newborns and encompasses a disease spectrum ranging from a stable hip with a mildly dysplastic acetabulum to complete hip dislocation. Systematic screening for infant DDH has been performed for several decades all over the world and has contributed greatly to the early detection, diagnosis and treatment of DDH. However, some cases of delayed diagnosis still occur among the screened population, or conversely, overdiagnosis or overtreatment occasionally occurs. Furthermore, screening strategies for DDH are still controversial. The aim of our study was to analyze the current literature on DDH screening, paying particular attention to DDH screening strategies and their effectiveness. We searched the DDH screening literature from 1958 to 2021 in MEDLINE and other databases using PubMed. In this study, we reviewed the history of DDH screening and the progress of screening strategies and discussed the controversies regarding clinical and ultrasound screening methods with particular emphasis on the current opinions. Given the existing scientific evidence and changes in newborn DDH screening practices, universal ultrasound screening seems to be the best option for preventing late-detected cases and can be recommended as a favorable prevention strategy.

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