Molecular Diagnostics Fundamentals, Methods, and Clinical Applications
Current advances in health sciences are available at the same time that diagnostic technology and knowledge provide new tools. This book is specially relevant because it summarises all the current state of the art on molecular diagnostics. Therefore a good suggestion for those who want to practice precision medicine.
Table of contents:
I. Fundamentals of Molecular Biology: An Overview
1. Nucleic Acids and Proteins
2. Gene Expression and Epigenetics
II. Common Techniques in Molecular Biology
3. Nucleic Acid Extraction Methods
4. Resolution and Detection of Nucleic Acids
5. Analysis and Characterization of Nucleic Acids and Proteins
6. Nucleic Acid Amplification
7. Chromosomal Structure and Chromosomal Mutations
8. Gene Mutations
9. DNA Sequencing
III. Techniques in the Clinical Laboratory
10. DNA Polymorphisms and Human Identification
11. Detection and Identification of Microorganisms
12. Molecular Detection of Inherited Diseases
13. Molecular Oncology
14. DNA-Based Tissue Typing
15. Quality Assurance and Quality Control in the Molecular Laboratory
Appendices
A. Study Questions Answers
B. Answers to Case Studies
Glossary
Index
09 de gener 2020
08 de gener 2020
Tough days ahead for health policy
Sistema Nacional de Salud: retos y tareas pendientes tras la Gran Recesión
The issue of Revista ICE, a must read for the new health minister:
The issue of Revista ICE, a must read for the new health minister:
Presentación
Innovación tecnológica y financiación de prestaciones
La colaboración público-privada en sanidad: hasta dónde y cómo delimitar sus fronteras
Reformas pendientes en la organización de la actividad sanitaria
La atención especilizada del Sistema Nacional de Salud durante la Gran Recesión. Gasto, utilización y variabilidad en el periodo 2004-2015
Atención a la dependencia y cuidados sanitarios: obligados a entenderse
Mirando más allá de los servicios de atención sanitaria: el papel de la salud pública
Diseño institucional y buen gobierno: avances y reformas pendientes
Crisis económica y salud: lecciones aprendidas y recomendaciones para el futuro
07 de gener 2020
05 de gener 2020
The public option for population health improvement
Addressing Social Determinants to Improve Population Health
Integrating Social Care into the Delivery of Health Care: Moving Upstream to Improve the Nation’s Health
The Public Option How to Expand Freedom, Increase Opportunity, and Promote Equality
This is what JAMA article says about population health
PS. The Limits of Private Action: What the Past 40 Years Taught Us About the Perils of Unregulated Markets
PS. There Should Be a Public Option for Everything
Integrating Social Care into the Delivery of Health Care: Moving Upstream to Improve the Nation’s Health
The Public Option How to Expand Freedom, Increase Opportunity, and Promote Equality
This is what JAMA article says about population health
While health care organizations may not be equipped to address each of the root causes of their patients’ conditions, they need to broaden their perspective on how to address social determinants of health and use their expertise to influence initiatives on education, housing, employment, and other important health related social issues that take place beyond their immediate clinical purview."Need to broaden their perspective", this is the message for health care organizations according to the articoe. I'm not so sure about it. The message is not only for health care organizations, it is for public policies. This is much more difficult to address when there is not a public option for the whole population. A new book sheds light on this topic for the US policy.
PS. The Limits of Private Action: What the Past 40 Years Taught Us About the Perils of Unregulated Markets
PS. There Should Be a Public Option for Everything
04 de gener 2020
How altruistic behaviors reduce pain
Altruistic behaviors relieve physical pain
That's it. You'll find the details in PNAS article:
That's it. You'll find the details in PNAS article:
For centuries, scientists have pondered why people would incur personal costs to help others and the implications for the performers themselves. While most previous studies have suggested that those who perform altruistic actions receive direct or indirect benefits that could compensate for their cost in the future, we offer another take on how this could be understood. We examine how altruistic behaviors may influence the performers’ instant sensation in unpleasant situations, such as physical pain. We find consistent behavioral and neural evidence that in physically threatening situations acting altruistically can relieve painful feelings in human performers. These findings shed light on the psychological and biological mechanisms underlying human prosocial behavior and provide practical insights into pain management.
Parov Stelar
02 de gener 2020
Fighting against techno-eugenics
A Chinese scientist who shocked the medical community last year when he said he had illegally created the world's first gene-edited babies has been sentenced to three years in prison by a court in southern China.Such unethical medical behavior is the worst news of 2019. And this article explained last June the reasons:
He Jiankui announced in November 2018 that he had used a powerful technique called CRISPR on a human embryo to edit the genes of twin girls. He said he modified a gene with the intention of protecting the girls against HIV, the virus that causes AIDS. Many scientists expressed concerns about possible unintended side effects of the genetic changes that could be passed down to future generations.
Last fall, He also indicated there might be another pregnancy involving a gene-edited embryo. The court indicated that three genetically edited babies have been born.
The closed court in Shenzhen found He and two colleagues guilty of illegal medical practice by knowingly violating the country's regulations and ethical principles with their experiments, Xinhua news agency reported. It also ordered He to pay a fine of about $430,000.
The link between CCR5 and HIV is fairly well studied. Disabling CCR5 removes the doorway HIV uses to enter and infect cells, but it does so only for some strains of HIV; there are others that don’t need CCR5. Further, the genetic sequence He’s edits produced does not match this well-studied variant of CCR5; in fact, it has never been observed in humans or animals. In other words, no one has any idea whether the variant with which Lulu and Nana are now living will affect HIV immunity or anything else.And this article reminds us that, despite the appearance of agreement, ethical questions that have surrounded human germline editing for years have yet to be properly addressed.
That’s a key issue: Genes don’t do just one thing. Most illnesses and traits are influenced by dozens, hundreds, even thousands of DNA variations. Each of our roughly 20,000 genes is linked to many different aspects of our physiology and health. So what else does CCR5 do? A variant that provides protection against HIV also seems to increase susceptibility to a number of more common diseases, like flu and West Nile virus.
CCR5 has also been linked to brain function, which led to some sensational headlines and media speculation that the gene-edited babies might have enhanced brains. There are likely myriad other processes to which CCR5 contributes that we don’t know about yet. To that point: before the recent study, no one had researched whether the CCR5 mutation resulted in better or worse health over a person’s lifetime.
The CCR5 story illustrates a flaw in the logic that underlies gene editing. Efforts to change one gene to affect one illness in a future person ignore the fact that health is the result of infinitely complex interactions within and outside a person’s body. In most cases, the presence or absence of a particular genetic variant is not the sole determinant of a disease or condition.
Unnatural Selection: Season 1 | Main Trailer | Netflix
31 de desembre 2019
Key issues for Population Health improvement
You'll find inside my article on key issues for population health improvement.
30 de desembre 2019
How confirmation bias contributes to polarization
Confirmation bias in the utilization of others’ opinion strength
Humans tend to discount information that undermines past choices and judgments. This confirmation bias has significant impact on domains ranging from politics to science and education. Little is known about the mechanisms underlying this fundamental characteristic of belief formation. Here we report a mechanism underlying the confirmation bias. Specifically, we provide evidence for a failure to use the strength of others’ disconfirming opinions to alter confidence in judgments, but adequate use when opinions are confirmatory. This bias is related to reduced neural sensitivity to the strength of others’ opinions in the posterior medial prefrontal cortex when opinions are disconfirming. Our results demonstrate that existing judgments alter the neural representation of information strength, leaving the individual less likely to alter opinions in the face of disagreement.
The notion that the strength of disconfirming opinion is not necessarily proportionate to its impact on belief change is in accord with anecdotal and ‘real-world’ observations in domains ranging from science to politics. The underlying process is remarkably flexible, with the neural circuitry involved switching on a trial-bytrial basis from high sensitivity to relative neglect, contingent on whether the opinion is confirmatory or disconfirming. This process may leave the individual less likely to alter opinions in the face of disagreement.Interesting article from Nature. So what? Is there any exercise to train the neural sensitivity of our posterior medial prefrontal cortex? If so, I would suggest these exercise to some guys.
26 de desembre 2019
Ethical algorithms like hammers?
Main messages:
All decision-making—including that carried out by human beings—is ultimately algorithmic. The difference is that human decision-making is based on logic or behaviors that we struggle to precisely enunciate. If we humans had the ability to describe our own decision-making processes precisely enough, then we could in fact represent them as computer algorithms. So the choice is not whether to avoid using algorithms or not, but whether or not we should use precisely specified algorithms.
Machine learning is a powerful tool that has many extant and potential benefits. Technology companies such as Google and Facebook of course rely on products powered by machine learning for much of their revenue—but as these techniques grow in applicability, their scope and societal benefits grow as well.
The result is that, at least for a while, the critics of the algorithmic approach may often be right. There are many consequential domains where algorithmic tools are still too naive and primitive to be fully trusted with decision-making. This is because to model the forest, we need to start with the trees. This book offers a snapshot of exciting strands of research aimed at developing ethical algorithms, many of which are still in their very earliest days.
23 de desembre 2019
Global pharmaceutical market vs. local regulators
Regulating Medicines in a Globalized World: The Need for Increased Reliance Among Regulators
As defined by the World Health Organization (WHO), recognition occurs when a regulatory authority accepts the regulatory decision of another authority “as its own decision;”— reliance takes place when a regulatory authority takes into account the work products of another authority (e.g., inspection reports, scientific assessment reports, joint assessment reports produced together with another authority) to help inform the receiving authority's own regulatory decision, which, in the end may differ from the made by the initial authority using the same products.Recognition and reliance are the first steps towards an improvement of real coordination between regulatory bodies. If the pharmaceutical market is global, the regulators should cooperate for a coherent global regulation.
22 de desembre 2019
Anchoring and adjusting heuristic
Effect of Teaching Bayesian Methods Using Learning by Concept vs Learning by Example on Medical Students’ Ability to Estimate Probability of a Diagnosis
Why do we need more bayesian reasoning?. Can we improve clinical decision making? The answer in this JAMA article.
Why do we need more bayesian reasoning?. Can we improve clinical decision making? The answer in this JAMA article.
Although bayesian reasoning has been widely promoted in the literature as a diagnostic strategy, there has been scant evidence that teaching bayesian reasoning actually improves diagnostic accuracy. Providing learners with relatively brief instruction on these abstract concepts appeared to significantly improve their diagnostic performance in comparison with simply providing a number of relevant examples or no relevant instruction.
The previously reported discrepancy between human probability estimation and optimal bayesian probability estimation has become traditionally accepted in the psychology and medical literature as cognitive biases, including base-rate neglect, anchoring bias, confirmation bias, and representativeness, all of which suggest suboptimal revision and have been purported to be a primary cause of diagnostic error.13,14 However, on closer scrutiny, much of this evidence was derived from situations that were not representative of the typical diagnostic setting. One highly cited study9 used a screening situation in which the base rate was very low and any positive test result, even one with excellent operating characteristics, would have most likely been a false-positive result. Participants in that study also appeared to exhibit semantic confusion by confusing the posttest probability with the conditional probability that was presented in the problem-solving exercise.
19 de desembre 2019
Medicine as a data science (7)
Artificial Intelligence in Health Care: The Hope, the Hype, the Promise, the Peril
The National Academy of Medicine’s Special Publication: Artificial Intelligence in Health Care: The Hope, The Hype, The Promise, The Peril synthesizes current knowledge to offer a reference document for relevant health care stakeholders such as: AI model developers, clinical implementers, clinicians and patients, regulators, and policy makers, to name a few. It outlines the current and near-term AI solutions; highlights the challenges, limitations, and best practices for AI development, adoption, and maintenance; offers an overview of the legal and regulatory landscape for AI tools designed for health care application; prioritizes the need for equity, inclusion, and a human rights lens for this work; and outlines key considerations for moving forward.A must read
14 de desembre 2019
Pharmaceutical policies
Medicamentos, innovación tecnológica y economía; (2019), nº 160
This issue of Papeles de Economia Española explains the current situation of pharmaceutical policies in Spain. These are the topics:
La industria farmacéutica en la actualidad: un vistazo a sus características
II. LA I+D+I EN LA INDUSTRIA FARMACÉUTICA
La evolución reciente y perspectivas de la innovación
de medicamentos
Ética, medicamentos e innovación
La economía de la I+D en la industria farmacéutica: un resumen
Innovación y competencia en el sector farmacéutico en la época de la medicina de precisión
La innovación y la industria farmacéutica en España
La I+D en el sector farmacéutico español en el período 2003-2015
III. ASPECTOS EMPRESARIALES Y ECONÓMICOS
La evolución de la organización empresarial en la industria farmacéutica
La política de la competencia en la industria farmacéutica
La contribución del sector farmacéutico al crecimiento, a las exportaciones y a la inversión en España
IV. LA PRESTACIÓN FARMACÉUTICA EN LAS COMUNIDADES AUTÓNOMAS
Gestión de la prestación farmacéutica y compras públicas en la Comunidad de Madrid
Procedimiento de selección de medicamentos en atención primaria en Andalucía
La experiencia de gestión de los medicamentos en Cataluña. Objetivos de salud y económicos
V. LA EVALUACIÓN DE LA EFICIENCIA DE LAS INTERVENCIONES Y TECNOLOGÍAS SANITARIAS
La trayectoria metodológica de la evaluación de la eficiencia y su futuro
El valor de las innovaciones médicas
La evaluación de la eficiencia de intervenciones y tecnologías sanitarias en España
VI. LA VISIÓN DEL SECTOR BIOFARMACÉUTICO DESDE LAS EMPRESAS
Industria farmacéutica en España: innovación y compromiso social
El sector de los medicamentos genéricos en España
Medicamentos biosimilares: una oportunidad para el Sistema Nacional de Salud
40 años de autocuidado en España.
Un sector consolidado y emergente
This issue of Papeles de Economia Española explains the current situation of pharmaceutical policies in Spain. These are the topics:
La industria farmacéutica en la actualidad: un vistazo a sus características
II. LA I+D+I EN LA INDUSTRIA FARMACÉUTICA
La evolución reciente y perspectivas de la innovación
de medicamentos
Ética, medicamentos e innovación
La economía de la I+D en la industria farmacéutica: un resumen
Innovación y competencia en el sector farmacéutico en la época de la medicina de precisión
La innovación y la industria farmacéutica en España
La I+D en el sector farmacéutico español en el período 2003-2015
III. ASPECTOS EMPRESARIALES Y ECONÓMICOS
La evolución de la organización empresarial en la industria farmacéutica
La política de la competencia en la industria farmacéutica
La contribución del sector farmacéutico al crecimiento, a las exportaciones y a la inversión en España
IV. LA PRESTACIÓN FARMACÉUTICA EN LAS COMUNIDADES AUTÓNOMAS
Gestión de la prestación farmacéutica y compras públicas en la Comunidad de Madrid
Procedimiento de selección de medicamentos en atención primaria en Andalucía
La experiencia de gestión de los medicamentos en Cataluña. Objetivos de salud y económicos
V. LA EVALUACIÓN DE LA EFICIENCIA DE LAS INTERVENCIONES Y TECNOLOGÍAS SANITARIAS
La trayectoria metodológica de la evaluación de la eficiencia y su futuro
El valor de las innovaciones médicas
La evaluación de la eficiencia de intervenciones y tecnologías sanitarias en España
VI. LA VISIÓN DEL SECTOR BIOFARMACÉUTICO DESDE LAS EMPRESAS
Industria farmacéutica en España: innovación y compromiso social
El sector de los medicamentos genéricos en España
Medicamentos biosimilares: una oportunidad para el Sistema Nacional de Salud
40 años de autocuidado en España.
Un sector consolidado y emergente
12 de desembre 2019
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