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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.

ABSTRACT: Cardiovascular disease (CVD) during pregnancy varies significantly worldwide, influenced by factors such as access to healthcare, delayed diagnosis, causes, and risk factors. Our study sought to explore the spectrum of CVD present in pregnant women in the United Arab Emirates to better understand this population's unique needs and challenges. Central to our study is an emphasis on the importance of implementing a multidisciplinary approach that involves the collaboration of obstetricians, cardiologists, geneticists, and other healthcare professionals to ensure that patients receive comprehensive and coordinated care. This approach can also help identify high-risk patients and implement preventive measures to reduce the occurrence of adverse maternal outcomes. Furthermore, increasing awareness among women about the risk of CVD during pregnancy and obtaining detailed family histories can help in the early identification and management of these conditions. Genetic testing and family screening can also aid in identifying inherited CVD that can be passed down through families. To illustrate the significance of such an approach, we provide a comprehensive analysis of five women's cases from our retrospective study of 800 women. The findings from our study emphasize the importance of addressing maternal cardiac health in pregnancy and the need for targeted interventions and improvements in the existing healthcare system to reduce adverse maternal outcomes.

SUBMITTER: Mansoori GA

PROVIDER: S-EPMC10252198 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.

Mansoori Ghadeera Al GA Mahmeed Wael Al WA Wani Saleema S Salih Bashir Taha BT Ansari Tarek El TE Farook Fathima F Farooq Zenab Z Khair Howaida H Zaręba Kornelia K Dhahouri Nahid Al NA Raj Anjana A Foo Roger S RS Ali Bassam R BR Jasmi Fatma Al FA Akawi Nadia N

International journal of molecular sciences 20230523 11

Cardiovascular disease (CVD) during pregnancy varies significantly worldwide, influenced by factors such as access to healthcare, delayed diagnosis, causes, and risk factors. Our study sought to explore the spectrum of CVD present in pregnant women in the United Arab Emirates to better understand this population's unique needs and challenges. Central to our study is an emphasis on the importance of implementing a multidisciplinary approach that involves the collaboration of obstetricians, cardio ...[more]

PMID: 37298070

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Project description:BackgroundEvery week, radiotherapy centers face the complex task of scheduling hundreds of treatment sessions amongst the available linear accelerators. With the increase in cancer patient numbers, manually creating a feasible and efficient schedule has shown to be a difficult, time-consuming task. Although operations research models have been increasingly reported upon to optimize patient care logistics, there is almost no scientific evidence of implementation in practice.MethodsA mathematical operations research model was adapted to generate radiotherapy treatment schedules in two Dutch centers. The model was iteratively adjusted to fulfill the technical and medical constraints of each center until a valid model was attained. Patient data was collected for the planning horizon of one week, and the feasibility of the obtained schedules was verified by the staff of each center. The resulting optimized solutions are compared with the ones manually developed in practice.ResultsThe weekly schedule was improved in both centers by decreasing the average standard deviation between sessions' starting times from 103.0 to 50.4 minutes (51%) in one center, and the number of gaps in the schedule from 18 to 5 (72%) in the other. The number of patients requiring linac switching between sessions has also decreased from 71 to 0 patients in one center, and from 43 to 2 in the other. The automated process required 5 minutes and 1.5 hours of computation time to find an optimal weekly patient schedule, respectively, as opposed to approximately 1.5 days when performed manually for both centers.ConclusionsThe practical application of a theoretical operations research model for radiotherapy treatment scheduling has provided radiotherapy planners a feasible, high-quality schedule in an automated way. Iterative model adaptations performed in small steps, early engagement of stakeholders, and constant communication proved to facilitate the implementation of operations research models into clinical practice.

Project description:Background and Purpose- Identifying the etiology of acute ischemic stroke is essential for effective secondary prevention. However, in at least one third of ischemic strokes, existing investigative protocols fail to determine the underlying cause. Establishing etiology is complicated by variation in clinical practice, often reflecting preferences of treating clinicians and variable availability of investigative techniques. In this review, we systematically assess the extent to which there exists consensus, disagreement, and gaps in clinical practice recommendations on etiologic workup in acute ischemic stroke. Methods- We identified clinical practice guidelines/consensus statements through searches of 4 electronic databases and hand-searching of websites/reference lists. Two reviewers independently assessed reports for eligibility. We extracted data on report characteristics and recommendations relating to etiologic workup in acute ischemic stroke and in cases of cryptogenic stroke. Quality was assessed using the AGREE II tool (Appraisal of Guidelines for Research & Evaluation). Recommendations were synthesized according to a published algorithm for diagnostic evaluation in cryptogenic stroke. Results- We retrieved 16 clinical practice guidelines and 7 consensus statements addressing acute stroke management (n=12), atrial fibrillation (n=5), imaging (n=5), and secondary prevention (n=1). Five reports were of overall high quality. For all patients, guidelines recommended routine brain imaging, noninvasive vascular imaging, a 12-lead ECG, and routine blood tests/laboratory investigations. Additionally, ECG monitoring (>24 hours) was recommended for patients with suspected embolic stroke and echocardiography for patients with suspected cardiac source. Three reports recommended investigations for rarer causes of stroke. None of the reports provided guidance on the extent of investigation needed before classifying a stroke as cryptogenic. Conclusions- While consensus exists surrounding standard etiologic workup, there is little agreement on more advanced investigations for rarer causes of acute ischemic stroke. This gap in guidance, and in the underpinning evidence, demonstrates missed opportunities to better understand and protect against ongoing stroke risk. Registration- URL: https://www.crd.york.ac.uk/PROSPERO/; Unique identifier: CRD42019127822.

Dataset Information

Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.

Publications

Introducing and Implementing Genetic Assessment in Cardio-Obstetrics Clinical Practice: Clinical and Genetic Workup of Patients with Cardiomyopathy.

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