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BioMed Research International 2022Next-generation sequencing methods have been developed and proposed to investigate any query in genomics or clinical activity involving DNA. Technical advancement in... (Review)
Review
BACKGROUND
Next-generation sequencing methods have been developed and proposed to investigate any query in genomics or clinical activity involving DNA. Technical advancement in these sequencing methods has enhanced sequencing volume to several billion nucleotides within a very short time and low cost. During the last few years, the usage of the latest DNA sequencing platforms in a large number of research projects helped to improve the sequencing methods and technologies, thus enabling a wide variety of research/review publications and applications of sequencing technologies.
OBJECTIVE
The proposed study is aimed at highlighting the most fast and accurate NGS instruments developed by various companies by comparing output per hour, quality of the reads, maximum read length, reads per run, and their applications in various domains. This will help research institutions and biological/clinical laboratories to choose the sequencing instrument best suited to their environment. The end users will have a general overview about the history of the sequencing technologies, latest developments, and improvements made in the sequencing technologies till now.
RESULTS
The proposed study, based on previous studies and manufacturers' descriptions, highlighted that in terms of output per hour, Nanopore PromethION outperformed all sequencers. BGI was on the second position, and Illumina was on the third position.
CONCLUSION
The proposed study investigated various sequencing instruments and highlighted that, overall, Nanopore PromethION is the fastest sequencing approach. BGI and Nanopore can beat Illumina, which is currently the most popular sequencing company. With respect to quality, Ion Torrent NGS instruments are on the top of the list, Illumina is on the second position, and BGI DNB is on the third position. Secondly, memory- and time-saving algorithms and databases need to be developed to analyze data produced by the 3- and 4-generation sequencing methods. This study will help people to adopt the best suited sequencing platform for their research work, clinical or diagnostic activities.
Topics: Algorithms; Genomics; High-Throughput Nucleotide Sequencing; Humans; Nucleotides; Sequence Analysis, DNA
PubMed: 36212714
DOI: 10.1155/2022/3457806 -
Cancer Cell Apr 2020Chronic myeloid leukemia (CML), caused by constitutively active BCR-ABL1 fusion tyrosine kinase, has served as a paradigm for successful application of molecularly... (Review)
Review
Chronic myeloid leukemia (CML), caused by constitutively active BCR-ABL1 fusion tyrosine kinase, has served as a paradigm for successful application of molecularly targeted cancer therapy. The development of the tyrosine kinase inhibitor (TKI) imatinib allows patients with CML to experience near-normal life expectancy. Specific point mutations that decrease drug binding affinity can produce TKI resistance, and second- and third-generation TKIs largely mitigate this problem. Some patients develop TKI resistance without known resistance mutations, with significant heterogeneity in the underlying mechanism, but this is relatively uncommon, with the majority of patients with chronic phase CML achieving long-term disease control. In contrast, responses to TKI treatment are short lived in advanced phases of the disease or in BCR-ABL1-positive acute lymphoblastic leukemia, with relapse driven by both BCR-ABL1 kinase-dependent and -independent mechanisms. Additionally, the frontline CML treatment with second-generation TKIs produces deeper molecular responses, driving disease burden below the detection limit for a greater number of patients. For patients with deep molecular responses, up to half have been able to discontinue therapy. Current efforts are focused on identifying therapeutic strategies to drive deeper molecular responses, enabling more patients to attempt TKI discontinuation.
Topics: Drug Resistance, Neoplasm; Fusion Proteins, bcr-abl; Humans; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Molecular Targeted Therapy; Protein Kinase Inhibitors
PubMed: 32289275
DOI: 10.1016/j.ccell.2020.03.006 -
International Journal of Molecular... Apr 2021Heart rate variability (HRV) represents the activity and balance of the autonomic nervous system and its capability to react to internal and external stimuli. As a... (Review)
Review
Heart rate variability (HRV) represents the activity and balance of the autonomic nervous system and its capability to react to internal and external stimuli. As a measure of general body homeostasis, HRV is linked to lifestyle factors and it is associated with morbidity and mortality. It is easily accessible by heart rate monitoring and gains interest in the era of smart watches and self-monitoring. In this review, we summarize effects of weight loss, training, and nutrition on HRV with a special focus on obesity. Besides weight reduction, effects of physical activity and dietary intervention can be monitored by parameters of HRV, including its time and frequency domain components. In the future, monitoring of HRV should be included in any weight reduction program as it provides an additional tool to analyze the effect of body weight on general health and homeostasis. HRV parameters could, for example, be monitored easily by implementation of an electrocardiogram (ECG) every two to four weeks during weight reduction period. Indices presumibly showing beneficial changes could be a reduction in heart rate and the number of premature ventricular complexes as well as an increase in standard deviation of normal-to-normal beat intervals (SDNN), just to name some.
Topics: Animals; Electrocardiography; Female; Heart Rate; Humans; Male; Nutrition Assessment; Obesity; Weight Loss
PubMed: 33921697
DOI: 10.3390/ijms22084215 -
Hypertension (Dallas, Tex. : 1979) Sep 2020Out-of-office blood pressure measurement is an essential part of diagnosing and managing hypertension. In the era of advanced digital health information technology, the... (Review)
Review
Out-of-office blood pressure measurement is an essential part of diagnosing and managing hypertension. In the era of advanced digital health information technology, the approach to achieving this is shifting from traditional methods (ambulatory and home blood pressure monitoring) to wearable devices and technology. Wearable blood pressure monitors allow frequent blood pressure measurements (ideally continuous beat-by-beat monitoring of blood pressure) with minimal stress on the patient. It is expected that wearable devices will dramatically change the quality of detection and management of hypertension by increasing the number of measurements in different situations, allowing accurate detection of phenotypes that have a negative impact on cardiovascular prognosis, such as masked hypertension and abnormal blood pressure variability. Frequent blood pressure measurements and the addition of new features such as monitoring of environmental conditions allows interpretation of blood pressure data in the context of daily stressors and different situations. This new digital approach to hypertension contributes to anticipation medicine, which refers to strategies designed to identify increasing risk and predict the onset of cardiovascular events based on a series of data collected over time, allowing proactive interventions to reduce risk. To achieve this, further research and validation is required to develop wearable blood pressure monitoring devices that provide the same accuracy as current approaches and can effectively contribute to personalized medicine.
Topics: Blood Pressure Monitoring, Ambulatory; Blood Pressure Monitors; Humans; Hypertension; Prognosis; Remote Sensing Technology; Wearable Electronic Devices
PubMed: 32755418
DOI: 10.1161/HYPERTENSIONAHA.120.14742 -
Surgical Endoscopy Mar 2023In recent years, the use of Indocyanine Green (ICG) fluorescence-guided surgery during open and laparoscopic procedures has exponentially expanded across various...
BACKGROUND
In recent years, the use of Indocyanine Green (ICG) fluorescence-guided surgery during open and laparoscopic procedures has exponentially expanded across various clinical settings. The European Association of Endoscopic Surgery (EAES) initiated a consensus development conference on this topic with the aim of creating evidence-based statements and recommendations for the surgical community.
METHODS
An expert panel of surgeons has been selected and invited to participate to this project. Systematic reviews of the PubMed, Embase and Cochrane libraries were performed to identify evidence on potential benefits of ICG fluorescence-guided surgery on clinical practice and patient outcomes. Statements and recommendations were prepared and unanimously agreed by the panel; they were then submitted to all EAES members through a two-rounds online survey and results presented at the EAES annual congress, Barcelona, November 2021.
RESULTS
A total of 18,273 abstracts were screened with 117 articles included. 22 statements and 16 recommendations were generated and approved. In some areas, such as the use of ICG fluorescence-guided surgery during laparoscopic cholecystectomy, the perfusion assessment in colorectal surgery and the search for the sentinel lymph nodes in gynaecological malignancies, the large number of evidences in literature has allowed us to strongly recommend the use of ICG for a better anatomical definition and a reduction in post-operative complications.
CONCLUSIONS
Overall, from the systematic literature review performed by the experts panel and the survey extended to all EAES members, ICG fluorescence-guided surgery could be considered a safe and effective technology. Future robust clinical research is required to specifically validate multiple organ-specific applications and the potential benefits of this technique on clinical outcomes.
Topics: Humans; Indocyanine Green; Consensus; Fluorescence; Laparoscopy; Cholecystectomy, Laparoscopic
PubMed: 36781468
DOI: 10.1007/s00464-023-09928-5 -
Multiple Sclerosis (Houndmills,... May 2022Efficacy and safety of inebilizumab for treatment of neuromyelitis optica spectrum disorder in adults seropositive for aquaporin-4 (AQP4)-immunoglobulin (Ig) G were... (Randomized Controlled Trial)
Randomized Controlled Trial
Long-term efficacy and safety of inebilizumab in neuromyelitis optica spectrum disorder: Analysis of aquaporin-4-immunoglobulin G-seropositive participants taking inebilizumab for ⩾4 years in the N-MOmentum trial.
BACKGROUND
Efficacy and safety of inebilizumab for treatment of neuromyelitis optica spectrum disorder in adults seropositive for aquaporin-4 (AQP4)-immunoglobulin (Ig) G were demonstrated in the 28-week randomized controlled period of the N-MOmentum study.
OBJECTIVE
To assess efficacy and safety of long-term inebilizumab treatment.
METHODS
Post hoc analysis was performed in 75 AQP4-IgG-seropositive participants receiving inebilizumab for ⩾4 years in the randomized controlled period and open-label extension of the N-MOmentum study.
RESULTS
Eighteen attacks occurred in 13 participants during inebilizumab treatment (annualized attack rate, 0.052 attacks/person-year). Twelve attacks occurred during the first year of treatment, and two each occurred in years 2-4. Disability scores remained stable throughout ⩾4 years of treatment. Inebilizumab was well tolerated, with two (2.7%) serious treatment-emergent adverse events related to inebilizumab and no deaths. Immunoglobulin G levels decreased over time; however, correlation between severe infections and low IgG levels could not be determined because of their small numbers.
CONCLUSION
These results from the N-MOmentum study continue to support use of inebilizumab for treatment of neuromyelitis optica spectrum disorder. Furthermore, the findings suggest that efficacy of inebilizumab may be enhanced after the first year of treatment, warranting additional long-term investigation.
Topics: Adult; Antibodies, Monoclonal, Humanized; Aquaporin 4; Autoantibodies; Humans; Immunoglobulin G; Neuromyelitis Optica
PubMed: 34595983
DOI: 10.1177/13524585211047223 -
Nature Medicine Oct 2023Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical... (Review)
Review
Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.
Topics: Humans; Precision Medicine; Consensus; Diabetes Mellitus; Evidence-Based Medicine
PubMed: 37794253
DOI: 10.1038/s41591-023-02502-5 -
Journal of Development Economics Jun 2022How do slums shape the economic and health dynamics of pandemics? A difference-in-differences analysis using millions of mobile phones in Brazil shows that residents of...
How do slums shape the economic and health dynamics of pandemics? A difference-in-differences analysis using millions of mobile phones in Brazil shows that residents of overcrowded slums engaged in less social distancing after the outbreak of Covid-19. We develop and calibrate a choice-theoretic equilibrium model in which individuals are heterogeneous in income and some people live in high-density slums. Slum residents account for a disproportionately high number of infections and deaths and, without slums, deaths increase in non-slum neighborhoods. Policy analysis of reallocation of medical resources, lockdowns and cash transfers produce heterogeneous effects across groups. Policy simulations indicate that: reallocating medical resources cuts deaths and raises output and the welfare of both groups; mild lockdowns favor slum individuals by mitigating the demand for hospital beds, whereas strict confinements mostly delay the evolution of the pandemic; and cash transfers benefit slum residents to the detriment of others, highlighting important distributional effects.
PubMed: 35463050
DOI: 10.1016/j.jdeveco.2022.102882 -
Journal of Developmental Biology Nov 2022Multiple motile cilia are formed at the apical surface of multi-ciliated cells in the epithelium of the oviduct or the fallopian tube, the trachea, and the ventricle of... (Review)
Review
Multiple motile cilia are formed at the apical surface of multi-ciliated cells in the epithelium of the oviduct or the fallopian tube, the trachea, and the ventricle of the brain. Those cilia beat unidirectionally along the tissue axis, and this provides a driving force for directed movements of ovulated oocytes, mucus, and cerebrospinal fluid in each of these organs. Furthermore, cilia movements show temporal coordination between neighboring cilia. To establish such coordination of cilia movements, cilia need to sense and respond to various cues, including the organ's orientation and movements of neighboring cilia. In this review, we discuss the mechanisms by which cilia movements of multi-ciliated cells are coordinated, focusing on planar cell polarity and the cytoskeleton, and highlight open questions for future research.
PubMed: 36412641
DOI: 10.3390/jdb10040047 -
The European Physical Journal. E, Soft... Jun 2021The dynamics and motion of multi-ciliated microswimmers with a spherical body and a small number N (with [Formula: see text]) of cilia with length comparable to the body...
The dynamics and motion of multi-ciliated microswimmers with a spherical body and a small number N (with [Formula: see text]) of cilia with length comparable to the body radius, is investigated by mesoscale hydrodynamics simulations. A metachronal wave is imposed for the cilia beat, for which the wave vector has both a longitudinal and a latitudinal component. The dynamics and motion is characterized by the swimming velocity, its variation over the beat cycle, the spinning velocity around the main body axis, as well as the parameters of the helical trajectory. Our simulation results show that the microswimmer motion strongly depends on the latitudinal wave number and the longitudinal phase lag. The microswimmers are found to swim smoothly and usually spin around their own axis. Chirality of the metachronal beat pattern generically generates helical trajectories. In most cases, the helices are thin and stretched, i.e., the helix radius is about an order of magnitude smaller than the pitch. The rotational diffusion of the microswimmer is significantly smaller than the passive rotational diffusion of the body alone, which indicates that the extended cilia contribute strongly to the hydrodynamic radius. The swimming velocity is found to increase with the cilia number N with a slightly sublinear power law, consistent with the behavior expected from the dependence of the transport velocity of planar cilia arrays on the cilia separation.
Topics: Cilia; Hydrodynamics; Models, Biological; Movement; Swimming
PubMed: 34101070
DOI: 10.1140/epje/s10189-021-00078-x