Pragyan Monalisa Sahoo,
Pragyan Monalisa Sahoo
Institution: Department of Analytical & Applied Economics, Utkal University, Bhubaneswar 751004, India
Email:
Himanshu Sekhar Rout,
Himanshu Sekhar Rout
Institution: Department of Analytical & Applied Economics, Utkal University, Bhubaneswar 751004, India
Email:
Mihajlo Jakovljevic
Mihajlo Jakovljevic
Institution: Institute of Advanced Manufacturing Technologies, Peter the Great St. Petersburg Polytechnic University, 195251 St. Petersburg, Russia
Email:
Despite economic progress, government efforts, and increased healthcare investments, health deprivation continues to persist in the countries of Brazil, Russia, India, China, and South Africa (BRICS). Hence, addressing the growing demand for health financing in a sustainable way and adopting unique ...
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Despite economic progress, government efforts, and increased healthcare investments, health deprivation continues to persist in the countries of Brazil, Russia, India, China, and South Africa (BRICS). Hence, addressing the growing demand for health financing in a sustainable way and adopting unique approaches to healthcare provision is essential. This paper aims to review publications on the existing health financing systems in the BRICS countries, analyze the core challenges associated with health financing, and explore potential solutions for establishing a sustainable health financing system. This paper adhered to the PRISMA guidelines when conducting the keyword search and determining the criteria for article inclusion and exclusion. Relevant records were obtained from PubMed Central using nine keyword combinations. Bibliometrics analysis was carried out using R software (version 4.1.3), followed by a comprehensive manual narrative review of the records. BRICS countries experienced increased health expenditure due to aging populations, noncommunicable diseases, and medical advancements. The majority of this increased spending has come from out-of-pocket payments, which often lead to impoverishment. Due to limited fiscal capabilities, administrative difficulties, and inefficiency, providing comprehensive healthcare through public funding alone has become exceedingly difficult for these countries. Public-private partnerships are essential for achieving sustainable health financing and addressing challenges in healthcare provision.
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2 days ago
Laura Lossi,
Laura Lossi
Institution: Department of Veterinary Sciences, University of Turin, Largo Paolo Braccini 2, 10095 Grugliasco, Italy
Email:
Claudia Castagna,
Claudia Castagna
Institution: Department of Veterinary Sciences, University of Turin, Largo Paolo Braccini 2, 10095 Grugliasco, Italy
Email:
Adalberto Merighi
Adalberto Merighi
Institution: Department of Veterinary Sciences, University of Turin, Largo Paolo Braccini 2, 10095 Grugliasco, Italy
Email:
Epigenetic changes are changes in gene expression that do not involve alterations to the DNA sequence. These changes lead to establishing a so-called epigenetic code that dictates which and when genes are activated, thus orchestrating gene regulation and playing a central role in development, health...
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Epigenetic changes are changes in gene expression that do not involve alterations to the DNA sequence. These changes lead to establishing a so-called epigenetic code that dictates which and when genes are activated, thus orchestrating gene regulation and playing a central role in development, health, and disease. The brain, being mostly formed by cells that do not undergo a renewal process throughout life, is highly prone to the risk of alterations leading to neuronal death and neurodegenerative disorders, mainly at a late age. Here, we review the main epigenetic modifications that have been described in the brain, with particular attention on those related to the onset of developmental anomalies or neurodegenerative conditions and/or occurring in old age. DNA methylation and several types of histone modifications (acetylation, methylation, phosphorylation, ubiquitination, sumoylation, lactylation, and crotonylation) are major players in these processes. They are directly or indirectly involved in the onset of neurodegeneration in Alzheimer’s or Parkinson’s disease. Therefore, this review briefly describes the roles of these epigenetic changes in the mechanisms of brain development, maturation, and aging and some of the most important factors dynamically regulating or contributing to these changes, such as oxidative stress, inflammation, and mitochondrial dysfunction.
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3 days ago
Dongjie Gao
Dongjie Gao
Institution:
Email:
With the rapid development of biotechnology, gene sequencing methods are gradually improved. The structure of gene sequences is also more complex. However, the traditional sequence alignment method is difficult to deal with the complex gene sequence alignment work. In order to improve the efficiency...
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With the rapid development of biotechnology, gene sequencing methods are gradually improved. The structure of gene sequences is also more complex. However, the traditional sequence alignment method is difficult to deal with the complex gene sequence alignment work. In order to improve the efficiency of gene sequence analysis, D2 series method of k-mer statistics is selected to build the model of gene sequence alignment analysis. According to the structure of the foreground sequence, the sequence to be aligned can be cut by different lengths and divided into multiple subsequences. Finally, according to the selected subsequences, the maximum dissimilarity in the alignment results is determined as the statistical result. At the same time, the research also designed an application system for the sequence alignment analysis of the model. The experimental results showed that the statistical power of the sequence alignment analysis model was directly proportional to the sequence coverage and cutting length, and inversely proportional to the K value and module length. At the same time, the model was applied to the system designed in this paper. The maximum storage capacity of the system was 71 GB, the maximum disk capacity was 135 GB, and the running time was less than 2.0s. Therefore, the k-mer statistic sequence alignment model and system proposed in this study have considerable application value in gene alignment analysis.
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1 week ago
Yehya Khlidj
Yehya Khlidj
Institution:
Email:
It’s been 10 years now from the debut of clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) era in which gene engineering has never been so accessible, precise and efficient. This technology, like a refined surgical procedure, has offered the ability of re...
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It’s been 10 years now from the debut of clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9) era in which gene engineering has never been so accessible, precise and efficient. This technology, like a refined surgical procedure, has offered the ability of removing different types of disease causing mutations and restoring key proteins activity with ease of outperforming the previous resembling methods: zinc finger nucleases (ZFNs) and transcription activator-like effector nucleases (TALENs). Additionally, CRISPR-Cas9 systems can systematically introduce genetic sequences to the specific sites in the human genome allowing to stimulate desired functions such as anti-tumoral and anti-infectious faculties. The present brief review provides an updated resume of CRISPR-Cas9’s top achievements from its first appearance to the current date focusing on the breakthrough research including in vitro, in vivo and human studies. This enables the evaluation of the previous phase ‘the proof-of-concept phase’ and marks the beginning of the next phase which will probably bring a spate of clinical trials.
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1 week ago
zulqarnain bhalwal
zulqarnain bhalwal
Institution: NULL
Email:
Hereditary non-polyposis colorectal cancer (HNPCC) and itsgenetic basis
3 weeks ago
Jaclyn Hynes,
Jaclyn Hynes
Institution: NULL
Email:
Andrée MacMillan,
Andrée MacMillan
Institution: NULL
Email:
Sara Fernandez,
Sara Fernandez
Institution: NULL
Email:
Karen Jacob,
Karen Jacob
Institution: NULL
Email:
Shannon Carter,
Shannon Carter
Institution: NULL
Email:
Sarah Predham,
Sarah Predham
Institution: NULL
Email:
Holly Etchegary,
Holly Etchegary
Institution: NULL
Email:
Lesa Dawson
Lesa Dawson
Institution: NULL
Email:
Background
Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by...
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Background
Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for further research regarding alternate methods of GC service delivery and implementation. This quality improvement project was initiated to determine if pretest group GC followed immediately by a ‘mini’ individual session, would be acceptable to patients at risk for hereditary breast and colon cancer.
Methods
Patients on waitlists for GC at the Provincial Medical Genetics Program in St. John’s, NL, Canada (<jats:italic>n</jats:italic> = 112), were contacted by telephone and offered the option of a group counselling session (GGC), followed by a “mini” individual session, versus (TGC) traditional private appointments. GGC sessions consisted of a cancer genetics information session given to groups of 6–20 followed by brief 20 min “mini” individual sessions with the patient and genetic specialist. TGC individual appointments provided the same cancer genetics information and counselling to one patient at a time in the classic model. All but 2 participants selected group+mini session. A de-identified confidential 12-item, Likert scale survey was distributed at the conclusion of mini-sessions to measure perceptions of GGC and satisfaction with this counselling model.
Results
Sixty participants completed questionnaires. The majority of participants strongly agreed that they were comfortable with the group session (58/60); the explanation of cancer genetics was clear (54/59); they understood their cancer risks (50/60); and they would recommend such a session to others (56/59). 38/53 respondents disagreed or strongly disagreed that they would prefer to wait for a traditional private appointment. All 5 participating genetic counselors reported a preference for this model. At the end of the pilot project, the waitlist for counselling/testing was reduced by 12 months.
Conclusions
Group pre-test genetic counselling combined with immediate “mini” individual session is strongly supported by patients and reduces wait times. Additional formal investigation of this approach in larger numbers of patients is warranted.
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3 weeks ago
Lindsay Carlsson,
Lindsay Carlsson
Institution: NULL
Email:
Emily Thain,
Emily Thain
Institution: NULL
Email:
Brittany Gillies,
Brittany Gillies
Institution: NULL
Email:
Kelly Metcalfe
Kelly Metcalfe
Institution: NULL
Email:
Introduction
Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-pen...
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Introduction
Knowledge of the genetic mechanisms driving hereditary breast and ovarian cancer (HBOC) has recently expanded due to advances in gene sequencing technologies. Genetic testing for HBOC risk now involves multi-gene panel testing, which includes well characterized high-penetrance genes (e.g. BRCA1 and BRCA2, as well as moderate- and low-penetrance genes. Certain moderate and low penetrance genes are associated with limited data to inform cancer risk estimates and clinical management recommendations, which create new sources of genetic and clinical uncertainty for patients.
Purpose
The aim of this review is to evaluate the psychological and health behaviour outcomes associated with multi-gene panel testing for HBOC risk. The search was developed in collaboration with an Information Specialist (Princess Margaret Cancer Centre) and conducted in the following databases: MEDLINE, EMBASE, EMCare, PsycINFO, Epub Ahead of Publication.
Results
Similar to the BRCA1/2 literature, individuals with a pathogenic variant (PV) reported higher levels of testing-related concerns and cancer-specific distress, as well as higher uptake of prophylactic surgery in both affected and unaffected individuals compared to those with variant of uncertain significance (VUS) or negative result. A single study demonstrated that individuals with a PV in a moderate penetrance gene reported higher rates of cancer worry, genetic testing concerns and cancer-related distress when compared to women with high penetrance PV. Analysis of cancer screening and prevention outcomes based upon gene penetrance were limited to two studies, with conflicting findings.
Conclusion
The findings in this review emphasize the need for studies examining psychological and health behavior outcomes associated with panel testing to include between group differences based upon both variant pathogenicity and gene penetrance. Future studies evaluating the impact of gene penetrance on patient-reported and clinical outcomes will require large samples to be powered for these analyses given that a limited number of tested individuals are found to have a PV.
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3 weeks ago
Trevor L. Hoffman,
Trevor L. Hoffman
Institution: NULL
Email:
Hilary Kershberg,
Hilary Kershberg
Institution: NULL
Email:
John Goff,
John Goff
Institution: NULL
Email:
Kimberly J. Holmquist,
Kimberly J. Holmquist
Institution: NULL
Email:
Reina Haque,
Reina Haque
Institution: NULL
Email:
Monica Alvarado
Monica Alvarado
Institution: NULL
Email:
Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing...
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Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genetic counseling approaches driven by personal/family history criteria. Regular automated searches of a centralized tumor DNA variant database were performed for ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PALB2, and/or PMS2 variants, and germline hereditary cancer gene panel testing was offered to patients with tumor variants who had never undergone germline testing. Patients completing germline testing due to their tumor DNA test results were considered part of the tumor DNA safety net. Patients previously completing germline testing via traditional genetic counseling and tumor DNA safety net were compared for demographics, tumor type, presence of germline pathogenic/likely pathogenic (P/LP) variant, and whether NCCN criteria were met for hereditary cancer genetic testing. Germline P/LP variants were common in both groups. Patients who received germline testing through traditional genetic counseling were more likely to have cardinal hereditary tumors than the tumor DNA safety net group. Patients identified with hereditary cancer through traditional genetic counseling were more likely to meet NCCN personal/family history criteria for germline testing than the tumor DNA safety net group (99% versus 34%). A universal tumor DNA safety net screen is an important diagnostic strategy which augments traditional genetic counseling approaches based on personal/family history.
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3 weeks ago
Michelle Jacobson,
Michelle Jacobson
Institution: NULL
Email:
Nadia Coakley,
Nadia Coakley
Institution: NULL
Email:
Marcus Bernardini,
Marcus Bernardini
Institution: NULL
Email:
Kelly-Ann Branco,
Kelly-Ann Branco
Institution: NULL
Email:
Laurie Elit,
Laurie Elit
Institution: NULL
Email:
Sarah Ferguson,
Sarah Ferguson
Institution: NULL
Email:
Raymond Kim
Raymond Kim
Institution: NULL
Email:
Objective
The purpose of this guideline is to make recommendations regarding the care of women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2
Methods
Draft recommendations were formulated based on evidence obtained ...
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Objective
The purpose of this guideline is to make recommendations regarding the care of women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2
Methods
Draft recommendations were formulated based on evidence obtained through a systematic review of RCTs, comparative retrospective studies and guideline endorsement. The draft recommendations underwent an internal review by clinical and methodology experts, and an external review by clinical practitioners.
Results
The literature search yielded 1 guideline, 5 systematic reviews, and 15 studies that met the eligibility criteria.
Conclusions
In women who harbour a pathogenic or likely pathogenic variant in BRCA1 and BRCA2 screening for ovarian cancer is not recommended. Risk-reducing surgery is recommended to reduce the risk of ovarian cancer. In the absence of contraindications, premenopausal women undergoing RRSO should be offered hormone therapy until menopause. Systemic hormone replacement therapy, is not recommended for women who have had a personal history of breast cancer. RRSO should be considered for breast cancer risk reduction in women younger than 50 years. After a breast cancer diagnosis, RRSO for breast cancer mortality reduction can be considered within two years to women who harbour a pathogenic or likely pathogenic variant in BRCA1 if younger than the recommended age range for ovarian cancer risk reduction. RRSO before the age of 40 and specifically for breast cancer treatment in BRCA2 should be considered only if recommended by their breast cancer oncologist. Following RRSO, it is not recommended to do surveillance for peritoneal cancer.
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3 weeks ago