Publications by authors named "Z I Bhuiyan"
Background And Aims: Long-term medicines are frequently recommended to cardiovascular patients to control hypertension and lower heart burden. Patient adherence to cardiovascular medicine is crucial since stopping it increases the risk of cardiac adverse events and poses a bigger risk to health. Perception of manufacturers, prescribers and patients were taken into account to identify the most important variables that can have a positive impact on patient satisfaction and thereby increase adherence to prescribed cardiovascular drug therapy.
View Article and Find Full Text PDFTECRL is the causative gene of an autosomal-recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), the so-called type 3 CPVT. However, only 17 families have been reported worldwide and no case of symptomatic heterozygous carriers has been described. We report herein genotypes and clinical phenotypes of a family of European ancestry harboring a new TECRL pathogenic variant and, for the first time, a CPVT-like phenotype in a TECRL heterozygous variant carrier.
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- - Diamond-Blackfan anemia syndrome (DBA) is caused by mutations in over 20 ribosomal protein genes, and this study specifically investigates the role of RPL17, which encodes a large ribosomal subunit protein.
- - Patients with RPL17 mutations exhibited typical DBA symptoms and erythroid proliferation defects, with further experiments showing that these mutations are pathogenic and lead to anemia in model organisms.
- - The research found that RPL17 variants result in defects in ribosomal RNA maturation and suggest that DBA primarily stems from insufficient ribosome production rather than changes in ribosome structure, as indicated by altered translation profiles in cell lines.
Background: The development of artificial intelligence (AI), machine learning (ML) and deep learning (DL) has advanced rapidly in the medical field, notably in trauma medicine. We aimed to systematically appraise the efficacy of AI, ML and DL models for predicting outcomes in trauma triage compared to conventional triage tools.
Methods: We searched PubMed, MEDLINE, ProQuest, Embase and reference lists for studies published from 1 January 2010 to 9 June 2022.
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure. Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component of the clinical care pathway. However, ICAs are characterised by high genetic and allelic heterogeneity, incomplete / age-related penetrance, and variable expressivity.
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