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Book
JCM-Advances in Cardiology
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Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

Cardiology and cardiovascular sciences are two rapidly growing areas in medicine, with heart diseases being the number one cause of death worldwide. The last four decades have witnessed many developments in various cardiological sciences, including coronary artery disease, valve disease, heart failure, congenital heart diseases, and cardiovascular imaging, with a number of newly developed concepts, such as cardio-oncology, cardio-renal diseases, and preventive cardiology. This Special Issue (SI) of the Journal of Clinical Medicine, entitled “JCM-Advances in Cardiology”, focuses on recent advances in the cardiological sciences. It published 8 research articles of significant clinical and scientific value.


Book
Diagnosis of neurogenetic disorders : contribution of next generation sequencing and deep phenotyping
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ISBN: 3039216112 3039216104 Year: 2019 Publisher: MDPI - Multidisciplinary Digital Publishing Institute

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The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is being increasingly recognized. The use of next-generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the deciphering developmental disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next-generation sequencing is recognized as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for genetic counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next-generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to a variant interpretation and understanding of natural history.


Book
JCM-Advances in Cardiology
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

Cardiology and cardiovascular sciences are two rapidly growing areas in medicine, with heart diseases being the number one cause of death worldwide. The last four decades have witnessed many developments in various cardiological sciences, including coronary artery disease, valve disease, heart failure, congenital heart diseases, and cardiovascular imaging, with a number of newly developed concepts, such as cardio-oncology, cardio-renal diseases, and preventive cardiology. This Special Issue (SI) of the Journal of Clinical Medicine, entitled “JCM-Advances in Cardiology”, focuses on recent advances in the cardiological sciences. It published 8 research articles of significant clinical and scientific value.


Book
JCM-Advances in Cardiology
Author:
Year: 2022 Publisher: Basel MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

Cardiology and cardiovascular sciences are two rapidly growing areas in medicine, with heart diseases being the number one cause of death worldwide. The last four decades have witnessed many developments in various cardiological sciences, including coronary artery disease, valve disease, heart failure, congenital heart diseases, and cardiovascular imaging, with a number of newly developed concepts, such as cardio-oncology, cardio-renal diseases, and preventive cardiology. This Special Issue (SI) of the Journal of Clinical Medicine, entitled “JCM-Advances in Cardiology”, focuses on recent advances in the cardiological sciences. It published 8 research articles of significant clinical and scientific value.


Book
Plant Organelle DNA Maintenance
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Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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This book provides reviews and primary research articles that discuss the replication, repair, maintenance, and structures of plant organelle genomes. Rearrangements of these genomes are common and provide a way to distinguish closely related plant species. Some articles in the book discuss recent advances in identifying specific proteins and potential mechanisms involved in DNA replication, recombination, and repair in plant mitochondria and chloroplasts.


Book
Molecular Basis and Gene Therapies of Cystic Fibrosis
Authors: --- ---
Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.


Book
Molecular Basis and Gene Therapies of Cystic Fibrosis
Authors: --- ---
Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.

Keywords

Medicine --- cystic fibrosis --- Staphylococcus aureus --- superantigen --- enterotoxin gene cluster --- MRSA --- exosomes --- microvesicles --- lung --- primary cells --- newborn screening --- trypsinogen --- CFTR gene --- next generation sequencing --- health policy --- rAAV2/HBoV1 --- baculovirus --- insect cells --- lung microbiome --- metagenomics --- gut–lung axis --- Cystic fibrosis --- CFTR --- transcriptomics --- proteostasis --- small molecules --- drug development --- common and new pathogenic variants --- ethnic Russian population --- gene therapy --- cyclophosphamide --- transient immunosuppression --- incidence --- survival --- genotype-phenotype correlations --- health policies --- CFTR modulators --- human nasal epithelial cells --- organoids --- biomarker --- functional assay --- pre-clinical in vitro models --- CFTR-related disorders --- molecular diagnosis --- CFTR variants --- Next Generation Sequencing (NGS) --- disease liability --- interpretation --- penetrance --- genotype-guided therapy --- miRNA --- airway basal cell --- lentivirus --- cystic fibrosis --- Staphylococcus aureus --- superantigen --- enterotoxin gene cluster --- MRSA --- exosomes --- microvesicles --- lung --- primary cells --- newborn screening --- trypsinogen --- CFTR gene --- next generation sequencing --- health policy --- rAAV2/HBoV1 --- baculovirus --- insect cells --- lung microbiome --- metagenomics --- gut–lung axis --- Cystic fibrosis --- CFTR --- transcriptomics --- proteostasis --- small molecules --- drug development --- common and new pathogenic variants --- ethnic Russian population --- gene therapy --- cyclophosphamide --- transient immunosuppression --- incidence --- survival --- genotype-phenotype correlations --- health policies --- CFTR modulators --- human nasal epithelial cells --- organoids --- biomarker --- functional assay --- pre-clinical in vitro models --- CFTR-related disorders --- molecular diagnosis --- CFTR variants --- Next Generation Sequencing (NGS) --- disease liability --- interpretation --- penetrance --- genotype-guided therapy --- miRNA --- airway basal cell --- lentivirus


Book
Plant Organelle DNA Maintenance
Authors: ---
Year: 2020 Publisher: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute

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Abstract

This book provides reviews and primary research articles that discuss the replication, repair, maintenance, and structures of plant organelle genomes. Rearrangements of these genomes are common and provide a way to distinguish closely related plant species. Some articles in the book discuss recent advances in identifying specific proteins and potential mechanisms involved in DNA replication, recombination, and repair in plant mitochondria and chloroplasts.

Keywords

Research & information: general --- Biology, life sciences --- DNA replication --- recombination-dependent replication (RDR) --- plant mitochondrial DNA --- chloroplast DNA --- DNA repair --- divergent inverted repeats --- short-globose cacti --- novel gene rearrangements --- pseudogenization --- sunflower --- cytoplasmic male sterility (CMS) --- mitochondrial genome --- reorganizations --- next generation sequencing (NGS) --- evolution --- replisome --- recombination-dependent replication --- Lilium --- phylogenomics --- plastome --- molecular markers --- gene tree --- species tree --- chloroplast --- mitochondrion --- genome stability --- homologous recombination repair --- repeated sequence --- Physcomitrella patens --- mitochondria --- double-strand break repair --- uracil-N-glycosylase --- Piperales --- Hydnoraceae --- Hydnora --- Prosopanche --- parasitic plants --- holoparasite --- plastid genome --- organelles --- plastid phylogenetics --- DNA recombination --- plant organelle genome structure --- DNA replication --- recombination-dependent replication (RDR) --- plant mitochondrial DNA --- chloroplast DNA --- DNA repair --- divergent inverted repeats --- short-globose cacti --- novel gene rearrangements --- pseudogenization --- sunflower --- cytoplasmic male sterility (CMS) --- mitochondrial genome --- reorganizations --- next generation sequencing (NGS) --- evolution --- replisome --- recombination-dependent replication --- Lilium --- phylogenomics --- plastome --- molecular markers --- gene tree --- species tree --- chloroplast --- mitochondrion --- genome stability --- homologous recombination repair --- repeated sequence --- Physcomitrella patens --- mitochondria --- double-strand break repair --- uracil-N-glycosylase --- Piperales --- Hydnoraceae --- Hydnora --- Prosopanche --- parasitic plants --- holoparasite --- plastid genome --- organelles --- plastid phylogenetics --- DNA recombination --- plant organelle genome structure


Book
Precision Medicine in Solid Tumors
Authors: ---
Year: 2022 Publisher: Basel MDPI Books

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Abstract

In the era of precision medicine, the use of molecularly targeted therapies in selected patients has led to a paradigm change in cancer treatment. Multiple studies have demonstrated the benefits of therapies that are chosen based on the molecular profile of the tumor and also from the liquid biopsy. With genomics' increasing ability, a routine transcriptomics analysis of advanced/metastatic cancers is now feasible in most cancer hospitals, including community cancer centers. This is an unprecedented shift in the management of cancers irrespective of their organ types, which not only improved the outcome but also opened several new avenues in research and practice, such as immune-check-point inhibitors, tumor-TME co-evolution in the development of resistance, longitudinal liquid biopsies, biomarkers screening and the management of electronic medical records.This book brings together these crucial areas of investigation. The research presented here attempts to address the current issues to provoke thoughts for the future. The future of precision medicine will have to embrace a shift from in vitro, in vivo/PDX models for the mechanistic study to a more functional test based on the scientific interrogation of genomic data, in the form of functional precision medicine. We will also have to combat the element of noise in the multitudes of data and impart the regulatory structure to make judicious use of the data. The expectations for functional precision medicine are high. We aspire to witness a tremendous improvement in patient outcomes, from better to best, down the road that will match the clinical guidelines.

Keywords

Medicine --- Oncology --- pediatric tumors --- tumor mutational burden --- TMB --- whole-exome sequencing --- gene panel sequencing --- immune checkpoint inhibitors --- glioblastoma prognosis --- overall survival --- extent of resection --- random forest --- Decision tree --- personalized precision oncology --- circulating free DNA --- liquid biopsy --- epidermal growth factor receptor --- tyrosine kinase inhibitor --- osimertinib --- comprehensive genomic profiling --- molecular genotyping --- intratumor heterogeneity --- multiple biopsies --- tumor evolution --- clonality classification --- strategic therapeutic intervention --- thymoma --- driver mutation --- sequencing --- molecular barcoding --- EGFR mutation --- EGFR-TKI --- cfDNA --- NGS --- digital enrichment --- next-generation sequencing --- solid cancer --- universal health-care system --- precision medicine --- presumed germline findings --- clinical guideline --- non-small cell lung cancer --- outcome --- adjuvant chemotherapy --- anaplastic lymphoma receptor tyrosine kinase --- HNSCC --- ctDNA --- tDNA --- DDR genes --- PARP inhibitors --- new drug development --- next-generation sequencing (NGS) --- open data --- regulatory reform --- tumor profiling test --- triple-negative breast cancer (TNBC) --- breast cancer --- targeted therapy --- TNBC subtypes --- immunotherapy --- cancer --- screening --- smoking --- electronic records --- PD-L1 --- cancer-associated fibroblasts --- resistance --- chemotherapy --- CTC --- immunocytochemistry --- parallel double-detection --- laboratory-friendly --- n/a


Book
Precision Medicine in Solid Tumors
Authors: ---
Year: 2022 Publisher: Basel MDPI Books

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Abstract

In the era of precision medicine, the use of molecularly targeted therapies in selected patients has led to a paradigm change in cancer treatment. Multiple studies have demonstrated the benefits of therapies that are chosen based on the molecular profile of the tumor and also from the liquid biopsy. With genomics' increasing ability, a routine transcriptomics analysis of advanced/metastatic cancers is now feasible in most cancer hospitals, including community cancer centers. This is an unprecedented shift in the management of cancers irrespective of their organ types, which not only improved the outcome but also opened several new avenues in research and practice, such as immune-check-point inhibitors, tumor-TME co-evolution in the development of resistance, longitudinal liquid biopsies, biomarkers screening and the management of electronic medical records.This book brings together these crucial areas of investigation. The research presented here attempts to address the current issues to provoke thoughts for the future. The future of precision medicine will have to embrace a shift from in vitro, in vivo/PDX models for the mechanistic study to a more functional test based on the scientific interrogation of genomic data, in the form of functional precision medicine. We will also have to combat the element of noise in the multitudes of data and impart the regulatory structure to make judicious use of the data. The expectations for functional precision medicine are high. We aspire to witness a tremendous improvement in patient outcomes, from better to best, down the road that will match the clinical guidelines.

Keywords

pediatric tumors --- tumor mutational burden --- TMB --- whole-exome sequencing --- gene panel sequencing --- immune checkpoint inhibitors --- glioblastoma prognosis --- overall survival --- extent of resection --- random forest --- Decision tree --- personalized precision oncology --- circulating free DNA --- liquid biopsy --- epidermal growth factor receptor --- tyrosine kinase inhibitor --- osimertinib --- comprehensive genomic profiling --- molecular genotyping --- intratumor heterogeneity --- multiple biopsies --- tumor evolution --- clonality classification --- strategic therapeutic intervention --- thymoma --- driver mutation --- sequencing --- molecular barcoding --- EGFR mutation --- EGFR-TKI --- cfDNA --- NGS --- digital enrichment --- next-generation sequencing --- solid cancer --- universal health-care system --- precision medicine --- presumed germline findings --- clinical guideline --- non-small cell lung cancer --- outcome --- adjuvant chemotherapy --- anaplastic lymphoma receptor tyrosine kinase --- HNSCC --- ctDNA --- tDNA --- DDR genes --- PARP inhibitors --- new drug development --- next-generation sequencing (NGS) --- open data --- regulatory reform --- tumor profiling test --- triple-negative breast cancer (TNBC) --- breast cancer --- targeted therapy --- TNBC subtypes --- immunotherapy --- cancer --- screening --- smoking --- electronic records --- PD-L1 --- cancer-associated fibroblasts --- resistance --- chemotherapy --- CTC --- immunocytochemistry --- parallel double-detection --- laboratory-friendly --- n/a

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