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Journal of the American Heart... Sep 2023Myocarditis is most recognized in patients with moderate to severe, recent-onset heart failure. However, less typical presentations including myocardial infarction with... (Review)
Review
Myocarditis is most recognized in patients with moderate to severe, recent-onset heart failure. However, less typical presentations including myocardial infarction with normal coronary arteries and arrhythmias are important manifestations but less commonly recognized to be caused by myocarditis. Most cases of myocarditis can be self-limiting without specific treatment; however, appropriate identification of risk during the diagnostic process of myocarditis and once a diagnosis is established is of primordial importance to identify patients in need for more specific follow-up and management. We propose a flexible, multitiered approach to the diagnostic process, allowing for capturing of the spectrum of myocarditis at an early time-point, individualized use of diagnostic resources through disease severity phenotyping, and providing structured follow-up care once myocarditis is confirmed. Such diagnostic processes allow for identification of specific etiologies with potential therapeutic consequences or allows for the comprehension of disease chronicity by understanding genetic contributions or elements of persistent immune dysregulation and degree of cardiac damage. The article highlights the evolving field of immunophenotyping in myocarditis, generating a potential for the development of targeted therapeutic approaches. Currently long-term follow-up should be titrated to the refined risk assessments of patients with a diagnosis of myocarditis and includes arrhythmia monitoring and imaging when the results will likely impact management. Genetic testing should be considered in selected cases, and histologic diagnosis may be considered in nonresponders even at later stages.
Topics: Humans; Myocarditis; Heart; Genetic Testing; Immunophenotyping; Reference Standards
PubMed: 37589159
DOI: 10.1161/JAHA.123.031454 -
Indian Journal of Psychiatry Aug 2023Telepsychiatry can be understood as an interactive mental health service providing mode using information and communication technology. In recent decades, services...
Telepsychiatry can be understood as an interactive mental health service providing mode using information and communication technology. In recent decades, services provided under the umbrella term of telepsychiatry expanded to cater clinical services, diagnostic services, interventions, therapies, education, and research. Since telepsychiatry has been practiced in India for two decades, various models have emerged to meet the country's demands and the logistics that are available. Both synchronous and asynchronous modes of telepsychiatry had been in practice in India depending on the availability of logistics. Most of the telepsychiatry services in India had focused on providing clinical care to reach the unreached population. Furthermore, telepsychiatry had been used to train mental health professionals and healthcare workers from other disciplines. However, not many models had incorporated the idea of hands-on training of the postgraduates/trainees of psychiatric social work (PSW) in telepsychiatry under supervision. This was addressed in the Manipal model of telepsychiatry. Manipal model of telepsychiatry has begun in 2016 with a novel idea to train mental health profession trainees in addition to cover other clinical services, research, and education. In the last eight years, four centers of Karnataka state have been covered under this model with progressive growth in a number of patients and this acted as a hands-on training model for the postgraduate trainees in starting telepsychiatry services independently. Furthermore, it provided an opportunity to develop the organization skills of trainees, improved their oratory skills, and improved their expertise in using information technology for mental healthcare delivery.
PubMed: 37736234
DOI: 10.4103/indianjpsychiatry.indianjpsychiatry_455_23 -
Canadian Family Physician Medecin de... Feb 2024
Topics: Humans; Female; Breast Density; Mammography; Early Detection of Cancer; Breast Neoplasms; Mass Screening
PubMed: 38383013
DOI: 10.46747/cfp.700282 -
Annals of Clinical and Translational... Aug 2023Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory...
OBJECTIVE
Duchenne muscular dystrophy (DMD) is an X-linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages, cardiorespiratory impairment, and death. As treatments for DMD have expanded, a DMD newborn screening (NBS) pilot study was conducted in New York State to evaluate the feasibility and benefit of NBS for DMD and to provide an early pre-symptomatic diagnosis.
METHODS
At participating hospitals, newborns were recruited to the pilot study, and consent was obtained to screen the newborn for DMD. The first-tier screen measured creatine kinase-MM (CK-MM) in dried blood spot specimens submitted for routine NBS. Newborns with elevated CK-MM were referred for genetic counseling and genetic testing. The latter included deletion/duplication analysis and next-generation sequencing (NGS) of the DMD gene followed by NGS for a panel of neuromuscular conditions if no pathogenic variants were detected in the DMD gene.
RESULTS
In the two-year pilot study, 36,781 newborns were screened with CK-MM. Forty-two newborns (25 male and 17 female) were screen positive and referred for genetic testing. Deletions or duplications in the DMD gene were detected in four male infants consistent with DMD or Becker muscular dystrophy. One female DMD carrier was identified.
INTERPRETATION
This study demonstrated that the state NBS program infrastructure and screening technologies we used are feasible to perform NBS for DMD. With an increasing number of treatment options, the clinical utility of early identification for affected newborns and their families lends support for NBS for this severe disease.
Topics: Infant; Humans; Male; Infant, Newborn; Female; Muscular Dystrophy, Duchenne; Neonatal Screening; Pilot Projects; Genetic Testing; High-Throughput Nucleotide Sequencing
PubMed: 37350320
DOI: 10.1002/acn3.51829 -
Genetics in Medicine : Official Journal... Oct 2023To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve clinical care.
METHODS
A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by genetic counselors, remotely. Follow-up surveys measured participant/provider satisfaction, knowledge, and psychological impact.
RESULTS
From September 5, 2019 to January 4, 2021, 620 participants were enrolled and 387 completed outcome surveys. There were no significant differences in outcomes between local and remote sites, with both arms reporting high knowledge and satisfaction scores (>80%). Notably, 16% of those tested had reportable PD gene variants (pathogenic/likely pathogenic/risk allele).
CONCLUSION
Local clinicians, as well as genetic counselors, with educational support as needed, can effectively return genetic results for PD as we observed favorable outcome measures in both groups. Increasing access to PD genetic testing and counseling is urgent; this can inform future efforts to integrate genetic testing and counseling into clinical care for all those with PD.
Topics: Humans; Genetic Counseling; Parkinson Disease; Pilot Projects; Genetic Testing; Alleles
PubMed: 37302021
DOI: 10.1016/j.gim.2023.100907 -
Pediatric Annals Nov 2023
Topics: Infant, Newborn; Humans; Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes; Neonatal Screening
PubMed: 37935399
DOI: 10.3928/19382359-20231004-01 -
Journal of Medical Genetics Feb 2024Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from... (Review)
Review
Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is fundamental to these tests. However, variant reclassification, the process of reassigning the pathogenicity of variants over time, poses challenges to diagnostic legitimacy. This review explores the medical and scientific literature available on variant reclassification, focusing on its clinical implications.Variant reclassification is driven by accruing evidence from diverse sources, leading to variant reclassification frequency ranging from 3.6% to 58.8%. Recent studies have shown that significant changes can occur when reviewing variant classifications within 1 year after initial classification, illustrating the importance of early, accurate variant assignation for clinical care.Variants of uncertain significance (VUS) are particularly problematic. They lack clear categorisation but have influenced patient treatment despite recommendations against it. Addressing VUS reclassification is essential to enhance the credibility of genetic testing and the clinical impact. Factors affecting reclassification include standardised guidelines, clinical phenotype-genotype correlations through deep phenotyping and ancestry studies, large-scale databases and bioinformatics tools. As genomic databases grow and knowledge advances, reclassification rates are expected to change, reducing discordance in future classifications.Variant reclassification affects patient diagnosis, precision therapy and family screening. The exact patient impact is yet unknown. Understanding influencing factors and adopting standardised guidelines are vital for precise molecular genetic diagnoses, ensuring optimal patient care and minimising clinical risk.
Topics: Humans; Genetic Predisposition to Disease; Genetic Variation; Genetic Testing; Genetic Association Studies; Genomics
PubMed: 38296635
DOI: 10.1136/jmg-2023-109488 -
Cells Jun 2023Artificial intelligence (AI) is a rapidly evolving field of computer science that involves the development of computational programs that can mimic human intelligence.... (Review)
Review
Artificial intelligence (AI) is a rapidly evolving field of computer science that involves the development of computational programs that can mimic human intelligence. In particular, machine learning and deep learning models have enabled the identification and grouping of patterns within data, leading to the development of AI systems that have been applied in various areas of hematology, including digital pathology, alpha thalassemia patient screening, cytogenetics, immunophenotyping, and sequencing. These AI-assisted methods have shown promise in improving diagnostic accuracy and efficiency, identifying novel biomarkers, and predicting treatment outcomes. However, limitations such as limited databases, lack of validation and standardization, systematic errors, and bias prevent AI from completely replacing manual diagnosis in hematology. In addition, the processing of large amounts of patient data and personal information by AI poses potential data privacy issues, necessitating the development of regulations to evaluate AI systems and address ethical concerns in clinical AI systems. Nonetheless, with continued research and development, AI has the potential to revolutionize the field of hematology and improve patient outcomes. To fully realize this potential, however, the challenges facing AI in hematology must be addressed and overcome.
Topics: Humans; Artificial Intelligence; Hematologic Diseases; Cytogenetics; Genetic Profile; Genetic Testing
PubMed: 37443789
DOI: 10.3390/cells12131755 -
Medicina (Kaunas, Lithuania) Mar 2024: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of... (Review)
Review
: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. : The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. : For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. : Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. : Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.
Topics: Humans; Cardiomyopathies; Phenotype; Genotype; Genetic Testing
PubMed: 38674189
DOI: 10.3390/medicina60040543 -
Journal of Hematology & Oncology Oct 2023The CRISPR genome editing technology has revolutionized the way gene function is studied. Genome editing can be achieved in single genes or for thousands of genes... (Review)
Review
The CRISPR genome editing technology has revolutionized the way gene function is studied. Genome editing can be achieved in single genes or for thousands of genes simultaneously in sensitive genetic screens. While conventional genetic screens are limited to bulk measurements of cell behavior, recent developments in single-cell technologies make it possible to combine CRISPR screening with single-cell profiling. In this way, cell behavior and gene expression can be monitored simultaneously, with the additional possibility of including data on chromatin accessibility and protein levels. Moreover, the availability of various Cas proteins leading to inactivation, activation, or other effects on gene function further broadens the scope of such screens. The integration of single-cell multi-omics approaches with CRISPR screening open the path to high-content information on the impact of genetic perturbations at single-cell resolution. Current limitations in cell throughput and data density need to be taken into consideration, but new technologies are rapidly evolving and are likely to easily overcome these limitations. In this review, we discuss the use of bulk CRISPR screening in hematology research, as well as the emergence of single-cell CRISPR screening and its added value to the field.
Topics: Humans; CRISPR-Cas Systems; Gene Editing; Genetic Testing
PubMed: 37875911
DOI: 10.1186/s13045-023-01495-5