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Sickle-cell disease – Wikipedia, the free encyclopedia

Posted: July 11, 2015 at 5:43 am

Sickle-cell disease (SCD), also known as sickle-cell anaemia (SCA) and drepanocytosis, is a hereditary blood disorder, characterized by an abnormality in the oxygen-carrying haemoglobin molecule in red blood cells. This leads to a propensity for the cells to assume an abnormal, rigid, sickle-like shape under certain circumstances. Sickle-cell disease is associated with a number of acute and chronic health problems, such as severe infections, attacks of severe pain ("sickle-cell crisis"), and stroke, and there is an increased risk of death.

Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent. Several subtypes exist, depending on the exact mutation in each haemoglobin gene. A person with a single abnormal copy does not experience symptoms and is said to have sickle-cell trait. Such people are also referred to as carriers.

The complications of sickle-cell disease can be prevented to a large extent with vaccination, preventive antibiotics, blood transfusion, and the drug hydroxyurea/hydroxycarbamide. A small proportion requires a transplant of bone marrow cells.

Almost 300,000 children are born with a form of sickle-cell disease every year, mostly in sub-Saharan Africa, but also in other parts of the world such as the West Indies and in people of African origin elsewhere in the world. In 2013 it resulted in 176,000 deaths up from 113,000 deaths in 1990.[1] The condition was first described in the medical literature by the American physician James B. Herrick in 1910, and in the 1940s and 1950s contributions by Nobel prize-winner Linus Pauling made it the first disease where the exact genetic and molecular defect was elucidated.

Sickle-cell disease may lead to various acute and chronic complications, several of which have a high mortality rate.[2]

The terms "sickle-cell crisis" or "sickling crisis" may be used to describe several independent acute conditions occurring in patients with SCD. SCD results in anemia and crises that could be of many types including the vaso-occlusive crisis, aplastic crisis, sequestration crisis, haemolytic crisis, and others. Most episodes of sickle-cell crises last between five and seven days.[3] "Although infection, dehydration, and acidosis (all of which favor sickling) can act as triggers, in most instances, no predisposing cause is identified."[4]

The vaso-occlusive crisis is caused by sickle-shaped red blood cells that obstruct capillaries and restrict blood flow to an organ resulting in ischaemia, pain, necrosis, and often organ damage. The frequency, severity, and duration of these crises vary considerably. Painful crises are treated with hydration, analgesics, and blood transfusion; pain management requires opioid administration at regular intervals until the crisis has settled. For milder crises, a subgroup of patients manage on NSAIDs (such as diclofenac or naproxen). For more severe crises, most patients require inpatient management for intravenous opioids; patient-controlled analgesia devices are commonly used in this setting. Vaso-occlusive crisis involving organs such as the penis[5] or lungs are considered an emergency and treated with red-blood cell transfusions. Incentive spirometry, a technique to encourage deep breathing to minimise the development of atelectasis, is recommended.[6]

Because of its narrow vessels and function in clearing defective red blood cells, the spleen is frequently affected.[7] It is usually infarcted before the end of childhood in individuals suffering from sickle-cell anemia. This spleen damage increases the risk of infection from encapsulated organisms;[8][9] preventive antibiotics and vaccinations are recommended for those lacking proper spleen function.

Splenic sequestration crises are acute, painful enlargements of the spleen, caused by intrasplenic trapping of red cells and resulting in a precipitous fall in hemoglobin levels with the potential for hypovolemic shock. Sequestration crises are considered an emergency. If not treated, patients may die within 12 hours due to circulatory failure. Management is supportive, sometimes with blood transfusion. These crises are transient, they continue for 34 hours and may last for one day.[10]

Acute chest syndrome (ACS) is defined by at least two of the following signs or symptoms: chest pain, fever, pulmonary infiltrate or focal abnormality, respiratory symptoms, or hypoxemia.[11] It is the second-most common complication and it accounts for about 25% of deaths in patients with SCD, majority of cases present with vaso-occlusive crises then they develop ACS.[12][13] Nevertheless, about 80% of patients have vaso-occlusive crises during ACS.

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Non-small cell lung cancer | University of Maryland …

Posted: July 11, 2015 at 5:43 am

Description

An in-depth report on the causes, diagnosis, treatment, and prevention of non-small cell lung cancer (NSCLC).

Lung cancer - non-small cell; NSCLC

Risk:

Treatment:

Although lung cancer accounts for only 15% of all newly-diagnosed cancers in the United States, it is the leading cause of cancer death in U.S. men and women. It is more deadly than colon, breast, and prostate cancers combined. About 160,000 patients die from lung cancer each year. Death rates have been declining in men over the past decade, and they have about stabilized in women.

The lungs are two spongy organs surrounded by a thin moist membrane called the pleura. Each lung is composed of smooth, shiny lobes: the right lung has three lobes, and the left has two. About 90% of the lung is filled with air. Only 10% is solid tissue.

The major features of the lungs include the bronchi, the bronchioles, and the alveoli. The alveoli are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.

Lung cancer develops when genetic mutations (changes) occur in a normal cell within the lung. As a result, the cell becomes abnormal in shape and behavior, and reproduces endlessly. The abnormal cells form a tumor that, if not surgically removed, invades neighboring blood vessels and lymph nodes and spreads to nearby sites. Eventually, the cancer can spread (metastasize) to locations throughout the body.

The two major categories of lung cancer are small cell lung cancer and non-small cell lung cancer. Most lung cancers are non-small cell cancer, the subject of this report. Less common cancers of the lung are known as carcinoids, cylindromas, and certain sarcomas (cancer in soft tissues). Some experts believe all primary lung cancers come from a single common cancerous (malignant) stem cell. As it copies itself, that stem cell can develop into any one of these cancer types in different people.

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Stem Cells – Lonza

Posted: July 10, 2015 at 12:49 pm

Now Available:

The L7 hPSC Reprogramming Bundle, a xeno-free, fully defined system for generation of hiPSCs. When combined with the L7 hPSC Culture System, it provides a complete system for reliable reprogramming, expansion and maintenance of human pluripotent stem cells.

The L7 PBMC Priming-Recovery Kit is supplied with PBMC priming and recovery media, enhancers, and a detailed protocol for PBMC reprogramming utilizing episomal vector technology.

To learn more about the L7 System, click hereor listen to the archived stem cell webinar.

Listen to the archived pluripotent stem cellwebinar.

L7 hiPSC Reprogramming and hPSC Culture System In 2011 Lonza began development on a clinical grade master cell bank. During development it was determined thatexisting commercialproductsdid not provide the optimal xeno-free, defined conditionsfor human induced pluripotent stem cell (hiPSC) generation and human pluripotent stem cell (hPSC) culture so theL7 hiPSC Reprogramming and hPSC Culture System was created. Efficient and reliable reprogramming of human somatic cells towards hiPSCs has never been easier!

Stem Cell Transfection using Nucleofector Technology Transfection ofstem cells is typically a very difficult task using non-viral methods. With the Nucleofector Technology stem cells can be consistently transfected at high efficiency for various applications, comprising those that require co-transfection of several substrates:

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Stem Cells - Lonza

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Platelet Rich Plasma PRP Therapy, Stem Cell Treatment …

Posted: July 10, 2015 at 12:49 pm

Regenerative Injection Therapy Offers an Alternative to and Enhances Outcome of Surgical Procedures

Of all the treatments I offer, I am most excited about Regenerative Injection Therapy with stem cells.Over the past several years, I have studied alongside the countrys leading experts in the use of platelet rich plasma (PRP), stem cells, and fat injections to treat orthopedic injuries and arthritic joints. This is a treatment option for orthopedic injuries and conditions that have traditionally required surgery or other extensive treatments.

The procedure involves extracting a minimal amount of a patients own blood, stem cells, and fat.I then inject the combined fluid into an injured area or an arthritic joint, which releases bioactive tissue growth factors. These growth factors lead to improved natural tissue healing. When platelets are injected into an arthritic joint with cartilage damage, the new collagen stimulates the growth of cartilage.Depending on the condition or treatment plan, I may also recommend using a patients stem cells. Stem cells are extracted from the patients own bone marrow or fat from the belly.The stem cells are filtered, cleansed, and then injected into an arthritic joint.

Here is an excellent article, reprinted with permission from the author, that details PRP procedures and the benefits to patients with musculoskeletal injuries.

Istudied with America's leading experts in the use of Platelet Rich Plasma (PRP), stem cells, and fat injections to treat torn tendons, ligaments, and osteoarthritis.

To find out if you are a candidate for PRP or stem cell therapy, call 954-476-9494 or request an appointment online withDr. Alan M. Lazar, MD, FACS in Broward County, Plantation, Fort Lauderdale, Florida area.

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Challenges in Gene Therapy – Learn Genetics

Posted: July 9, 2015 at 10:44 pm

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Gene Therapy

Challenges in Gene Therapy?

Gene therapy is not a new field; it has been evolving for decades. Despite the best efforts of researchers around the world, however, gene therapy has seen only limited success. Why?

Gene therapy poses one of the greatest technical challenges in modern medicine. It is very hard to introduce new genes into cells of the body and keep them working. And there are financial concerns: Can a company profit from developing a gene therapy to treat a rare disorder? If not, who will develop and pay for these life-saving treatments?

Let's look at some of the main challenges in gene therapy.

For some disorders, gene therapy will work only if we can deliver a normal gene to a large number of cellssay several millionin a tissue. And they have to the correct cells, in the correct tissue. Once the gene reaches its destination, it must be activated, or turned on, to make the protein it encodes. And once it's turned on, it must remain on; cells have a habit of shutting down genes that are too active or exhibiting other unusual behaviors.

Introducing changes into the wrong cells Targeting a gene to the correct cells is crucial to the success of any gene therapy treatment. Just as important, though, is making sure that the gene is not incorporated into the wrong cells. Delivering a gene to the wrong tissue would be inefficient, and it could cause health problems for the patient.

For example, improper targeting could incorporate the therapeutic gene into a patient's germline, or reproductive cells, which ultimately produce sperm and eggs. Should this happen, the patient would pass the introduced gene to his or her children. The consequences would vary, depending on the gene.

Our immune systems are very good at fighting off intruders such as bacteria and viruses. Gene-delivery vectors must be able to avoid the body's natural surveillance system. An unwelcome immune response could cause serious illness or even death.

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Medical Genetics at University of Washington

Posted: July 8, 2015 at 1:48 am

Medical Genetics Faculty, Fellows & Staff: 2014

The University of Washington Department of Medicine is recruiting for one (1) full-time faculty position at the Associate Professor, or Professor level in the Division of Medical Genetics, Department of Medicine. This position is offered with state tenure funding.

Successful candidates for this position will have an M.D./Ph.D. or M.D. degree (or foreign equivalent), clinical expertise in genetics, and will be expected to carry out a successful research program. Highly translational PhD (or foreign equivalent) scientists may be considered. Although candidates with productive research programs in translational genetics/genomics and/or precision medicine will be prioritized, investigators engaged in gene therapy research may also be considered.

The position will remain open until filled. Send CV and 1-2 page letter of interest to:

Medical Genetics Faculty Search c/o Sara Carlson Division of Medical Genetics University of Washington seisner@u.washington.edu

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Medical Genetics at University of Washington

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Genetic engineering: a guide for kids by Tiki the Penguin

Posted: July 8, 2015 at 1:48 am

Genetic engineering (GE for short) is about scientists altering the 'recipes' for making life the genes which you find in all living things. Doing this is very clever and seems to be very useful. Back in the 1990s, many 'Greens' campaigned against genetic engineering and still do. They predicted disaster but that hasn't happened. Nobody has died from eating genetically modified (GM) food. They were also worried about the private GE companies' ownership of the recipes genes for making these new life forms. So is genetic engineering okay? My guide explains the basics but it's up to you to make up your own mind about GE.

Finding your way around my GE Guide You can jump to any part that interests you from the table below. If you want to start at the beginning, click the green arrow below (forward to 'Genes, snails and whales').

Table of contents

Genes, snails and whales What makes you human or me a penguin? What are genes?

Tried and tested Life on Earth has been around for a long time so it's been well tested.

Adapt or die Only the fittest life survives. Here's how it does it.

Coils and corkscrews About that incredible stuff DNA.

Copycat: How DNA copies itself.

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H+: True Transhumanism – Essentials | Metanexus

Posted: July 6, 2015 at 5:43 am

In his Global Spiral paper, Of Which Humans Are We Post? Don Ihde wonders whether all this bother about the concepts of human, transhuman, and posthuman arose with Foucault. The answer is no, they did not. Much earlier thinkers raised these questions in one form or another. Foucaults discussion in the Order of Things appeared only in 1973. Even if we limit ourselves to modern discussions of these concepts, Foucault is almost irrelevant. This is certainly true of the kinds of thinkers with whom Ihde concerns himself. The only people he actually names are Hans Moravec, Marvin Minsky, and Ray Kurzweil, but Ihde is clearly commenting on the general thrust of modern transhumanist thought.

Our modern biologically and genetically-defined sub-species, Homo sapiens sapiens, has been around for 100,000 to 200,000 years. Theres some plausibility in Ihdes suggestion that the modern concept of human formed only in the last 3 or 4 centuries: the Cartesian-Lockean human. The emphasis on the rational capacities of human beings, however, lies further back with Plato and Aristotle (in their two quite differing ways). Aristotle didnt have the Lockean notion of individual rights, but they werent a big stretch from the Great Greeks view of the individual good as personal flourishing through the development of potentialdevelopment that would need a protected space. The Cartesian-Lockean human was crucially followed by the Darwinian and Freudian human, which took human beings out from the center of creation and some distance away from the transparently rational human of the old philosophers. Even so, I heartily agree that reassessing our interpretation of the human is timely and important.

The biologists conception of what it is to be a member of the human species so far remains useful: Our species is a group of interbreeding natural populations that are reproductively isolated from other such groups.1 Although useful, that species-based definition and the related genetically-delimited identification of human is becoming increasingly inadequate as our further evolution depends more on the scientific and technological products of our minds. The transhumans or posthumans we may become as individuals (if we live long enough) or as a species may quite possibly share our current DNA, but implants, regenerative medicine, medical nanotechnology, neural-computer interfaces, and other technologies and cultural practices are likely to gradually render our chromosomes almost vestigial components of our individual and species identity.

While I agree with Ihde on the need for (further) discussion of the concepts and significance of human, transhuman, and posthuman, I find many of his comments to be directed at transhumanists who barely exist (if at all). I resonate with the project of understanding potentially obfuscating idols such as Bacon described. But Ihdes discussion of his own four idols seems to be more of a straw man than an accurate critique of contemporary transhumanist views. I find this to be true especially of his Idol of Paradise and Idol of Prediction. The other two idolsof Intelligent Design and the Cyborg contain relatively little critical commentary, and so I find less in them to object to.

True Transhumanism

A few years ago, I received a telephone call from researchers from the Oxford English Dictionary who were looking into the possibility of adding transhumanism to that authoritative bible of word usage. That addition has just now happeneda little behind the widespread adoption of the term around the world. Although Dante and Huxley used the term earlier, I first (and independently) coined the modern sense of the term around two decades ago in my essay Transhumanism: Toward a Futurist Philosophy. My currently preferred definition, shared by other transhumanists is as follows:

Since I will argue that most of Ihdes critical comments and Idols succeed in damaging only views that few or no transhumanists actually hold, it makes sense for me to establish my knowledge of those views. Apart from first defining and explaining the philosophical framework of transhumanism, I wrote the Principles of Extropy and co-founded Extropy Institute to explore it and to spur the development of a movement (for want of a better term) based on transhumanism. That movement has grown from numerous sources in addition to my own work and become a global philosophy attracting a remarkable amount of commentary, both pro and con. In some minds (certainly in that of Francis Fukuyama) it has become the most dangerous idea in the world.

Ihdes own four idols of thought refer more to straw positions than to real views held by most contemporary transhumanists. That doesnt mean that he went astray in choosing Francis Bacon and his four idols from his 1620 work Novum Organum2 as an inspiration. Around the same time that I defined transhumanism I also suggested that transhumanists consider dropping the Western traditional but terribly outdated Christian calendar for a new one in which year zero would be the year in which Novum Organum was published (so that we would now be entering 389 PNO, or Post Novum Organum, rather than 2009). Despite Aristotles remarkable work on the foundations of logic and his unprecedented study On the Parts of Animals, Bacons work first set out the essence of the scientific method. That conceptual framework is, of course, utterly central to the goals of transhumanismas well as the key to seeing where Ihdes Idols (especially that of Paradise) fail accurately to get to grips with real, existing transhumanist thought.

Bacons own four idols still have much to recommend them. His Idols of the Tribe and of the Cave could plausibly be seen as the core of important ideas from todays cognitive and social psychology. These idols could comfortably encompass the work on biases and heuristics by Kahneman and Tversky and other psychologists and behavioral finance and economics researchers. The Idols of the Cave are deceptive thoughts that arise within the mind of the individual. These deceptive thoughts come in many differing forms. In the case of Don Ihdes comments on transhumanist thinking, we might define a sub-species of Bacons Idol and call it the Idol of Non-Situated Criticism. (A close cousin of The Idol of the Straw Man.)

Many of Ihdes comments sound quite sensible and reasonable, but to whom do they apply? The only transhumanists Ihde mentions (without actually referencing any specific works of theirs) are Hans Moravec, Marvin Minsky, and Ray Kurzweil. In The Idol of Prediction, Ihde says In the same narratives concerning the human, the posthuman and the transhuman but never tells us just which narratives hes talking about. The lack of referents will leave most readers with a distorted view of true transhumanism. There are silly transhumanists of course, just as silly thinkers can be found in any other school of thought. I take my job here to be distinguishing the various forms of transhumanism held by most transhumanists from the easy but caricatured target created by Ihde (and many other critics).

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Stem-cell Research and the Catholic Church

Posted: July 5, 2015 at 6:49 pm

ORLANDO, Fla. (CNS) Declaring that stem-cell research does not present a conflict between science and religion, the U.S. bishops overwhelmingly approved a statement June 13 calling the use of human embryos in such research "gravely immoral" and unnecessary.

In the last vote of the public session of their June 12-14 spring general assembly in Orlando, the bishops voted 191-1 in favor of the document titled "On Embryonic Stem-Cell Research: A Statement of the U.S. Conference of Catholic Bishops."

"It now seems undeniable that once we cross the fundamental moral line that prevents us from treating any fellow human being as a mere object of research, there is no stopping point," the document said. "The only moral stance that affirms the human dignity of all of us is to reject the first step down this path."

Archbishop Joseph F. Naumann of Kansas City, Kan., introduced the document on behalf of Philadelphia Cardinal Justin Rigali, chairman of the bishops' Committee on Pro-Life Activities, who was not at the Orlando meeting.

Consideration of the stem-cell document came after an intense and complicated debate at the meeting over a 700-page liturgical translation. Archbishop Naumann thanked those involved in the liturgical debate for "making stem-cell research seem simple," which drew laughs from the other bishops.

The seven-page policy statement was approved with little debate and few amendments.

Archbishop Naumann said it would be issued in an "attractive educational brochure" intended for the "broadest possible distribution."

Also coming out this summer, he said, are three educational resources on the medical advances being made with adult stem cells: a 16-minute DVD called "Stem-Cell Research: Finding Cures We Can All Live With"; an updated parish bulletin insert on the topic; and a brochure on "Stem Cells and Hope for Patients," which will be part of the bishops' annual Respect Life observance.

Although the U.S. bishops have been active in the national debate on stem cells, individually and collectively, this marks the first time they have addressed the issue in a document "devoted exclusively" to that topic, Archbishop Naumann said.

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Dr David Steenblock – Adult Stem Cells & Stem Cell Treatments

Posted: July 5, 2015 at 5:50 am

Personalized Regenerative Medicine

Stem Cells & Stem Cell Therapies

Over the years, the staff at his namesake research institute accumulated response and outcome data on over 1000 patients treated in Mexico. With his participation they also carried out an open label pilot study in Mexico during 2004 in which eight children with cerebral palsy were treated with a subcutaneous very small injection of 1.5 View Article

By the 1990s Dr Steenblock, like many physicians had become keenly aware of the work being done with embryonic stem cells and their purported promise to usher in a new age of regenerative medicine. However, as ethical objections to use of embryonic stem cells gained traction and then momentum in the US and studies appeared View Article

It was actually in the year 1908 that the Russian histologist Alexander Maksimov (18741928) proposed the use of the term stem cell at a hematologic society congress held right here in Germany, in Berlin2. He crafted this term to help describe something he had observed about blood; namely that all blood cells develop from a View Article

The adult stem cells in most of the bodys organs and tissues tend to be a mix of multipotent, oligopotent and unipotent stem cells. These terms refer to the potency of these stem cells. Briefly: Multipotent stem cells can differentiate into a number of somatic cell types, but only those of a closely related family View Article

Stem Cell Diet 2012

The ALS diet developed by Dr Steenblock has been built to help ALS patients heal their intestines and combat fungi and toxic bacteria. This linkage between yeast and ALS has received additional validation insofar as recent autopsy studies have shown that all or almost all ALS patients have a chronic yeast infection or else are View Article

The Widowmaker uncovers a conspiracy of silence around that most vulnerable of human organs the heart. Every minute of every year an American drops dead of a heart attack, a huge number without any warning or prior symptom. For thirty years a hidden battle has been fought inside Americas medical establishment that has condemned View Article

Bioengineered Patch, Molecular Booster Could Improve Stem Cells Ability Treat Heart Failure Since 2009, scientists have injected, transplanted and infused millions of different types of stem-cell derived treatments into dying human hearts with the goal of reversing heart disease but so far, the results have been mixed.

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