Could this experimental treatment reverse damage caused by a heart attack?

The heart muscle relies on a steady flow of oxygen-rich blood to nourish it and keep it pumping. During a heart attack, that blood flow is interrupted by a blockage in an artery. Without blood, the area of heart fed by the affected artery begins to die and scar tissue forms in the area. Over time, this damage can lead to heart failure, especially when one heart attack comes after another.

Though the heart is a tough organ, the damaged portions become unable to pump blood as efficiently as they once could. People who have had a heart attack therefore may face a lifetime of maintenance therapymedications and other treatments aimed at preventing another heart attack and helping the heart work more efficiently.

A new treatment using stem cellswhich have the potential to grow into a variety of heart cell typescould potentially repair and regenerate damaged heart tissue. In a study published last February in The Lancet, researchers treated 17 heart attack patients with an infusion of stem cells taken from their own hearts. A year after the procedure, the amount of scar tissue had shrunk by about 50%.

These results sound dramatic, but are they an indication that we're getting close to perfecting this therapy? "This is a field where, depending on which investigator you ask, you can get incredibly different answers," says Dr. Richard Lee, professor of medicine at Harvard Medical School and a leading expert on stem cell therapy.

"The field is young. Some studies show only modest or no improvement in heart function, but others have shown dramatically improved function," he says. "We're waiting to see if other doctors can also achieve really good results in other patients."

Studies are producing such varied outcomes in part because researchers are taking different approaches to harvesting and using stem cells. Some stem cells are taken from the bone marrow of donors, others from the patient's own heart. It's not clear which approach is the most promising.

Several different types of approaches are being used to repair damaged heart muscle with stem cells. The stem cells, which are often taken from bone marrow, may be inserted into the heart using a catheter. Once in place, stem cells help regenerate damaged heart tissue.

Like any other therapy, injecting stem cells into the heart can fail or cause side effects. If the stem cells are taken from an unrelated donor, the body's immune system may reject them. And if the injected cells can't communicate with the heart's finely tuned electrical system, they may produce dangerous heart rhythms (arrhythmias). So far, side effects haven't been a major issue, though, and that has encouraged investigators to push onward.

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by Jos Domen*, Amy Wagers** and Irving L. Weissman***

Blood and the system that forms it, known as the hematopoietic system, consist of many cell types with specialized functions (see Figure 2.1). Red blood cells (erythrocytes) carry oxygen to the tissues. Platelets (derived from megakaryocytes) help prevent bleeding. Granulocytes (neutrophils, basophils and eosinophils) and macrophages (collectively known as myeloid cells) fight infections from bacteria, fungi, and other parasites such as nematodes (ubiquitous small worms). Some of these cells are also involved in tissue and bone remodeling and removal of dead cells. B-lymphocytes produce antibodies, while T-lymphocytes can directly kill or isolate by inflammation cells recognized as foreign to the body, including many virus-infected cells and cancer cells. Many blood cells are short-lived and need to be replenished continuously; the average human requires approximately one hundred billion new hematopoietic cells each day. The continued production of these cells depends directly on the presence of Hematopoietic Stem Cells (HSCs), the ultimate, and only, source of all these cells.

Figure 2.1. Hematopoietic and stromal cell differentiation.

2001 Terese Winslow (assisted by Lydia Kibiuk)

The search for stem cells began in the aftermath of the bombings in Hiroshima and Nagasaki in 1945. Those who died over a prolonged period from lower doses of radiation had compromised hematopoietic systems that could not regenerate either sufficient white blood cells to protect against otherwise nonpathogenic infections or enough platelets to clot their blood. Higher doses of radiation also killed the stem cells of the intestinal tract, resulting in more rapid death. Later, it was demonstrated that mice that were given doses of whole body X-irradiation developed the same radiation syndromes; at the minimal lethal dose, the mice died from hematopoietic failure approximately two weeks after radiation exposure.1 Significantly, however, shielding a single bone or the spleen from radiation prevented this irradiation syndrome. Soon thereafter, using inbred strains of mice, scientists showed that whole-body-irradiated mice could be rescued from otherwise fatal hematopoietic failure by injection of suspensions of cells from blood-forming organs such as the bone marrow.2 In 1956, three laboratories demonstrated that the injected bone marrow cells directly regenerated the blood-forming system, rather than releasing factors that caused the recipients' cells to repair irradiation damage.35 To date, the only known treatment for hematopoietic failure following whole body irradiation is transplantation of bone marrow cells or HSCs to regenerate the blood-forming system in the host organisms.6,7

The hematopoietic system is not only destroyed by the lowest doses of lethal X-irradiation (it is the most sensitive of the affected vital organs), but also by chemotherapeutic agents that kill dividing cells. By the 1960s, physicians who sought to treat cancer that had spread (metastasized) beyond the primary cancer site attempted to take advantage of the fact that a large fraction of cancer cells are undergoing cell division at any given point in time. They began using agents (e.g., chemical and X-irradiation) that kill dividing cells to attempt to kill the cancer cells. This required the development of a quantitative assessment of damage to the cancer cells compared that inflicted on normal cells. Till and McCulloch began to assess quantitatively the radiation sensitivity of one normal cell type, the bone marrow cells used in transplantation, as it exists in the body. They found that, at sub-radioprotective doses of bone marrow cells, mice that died 1015 days after irradiation developed colonies of myeloid and erythroid cells (see Figure 2.1 for an example) in their spleens. These colonies correlated directly in number with the number of bone marrow cells originally injected (approximately 1 colony per 7,000 bone marrow cells injected).8 To test whether these colonies of blood cells derived from single precursor cells, they pre-irradiated the bone marrow donors with low doses of irradiation that would induce unique chromosome breaks in most hematopoietic cells but allow some cells to survive. Surviving cells displayed radiation-induced and repaired chromosomal breaks that marked each clonogenic (colony-initiating) hematopoietic cell.9 The researchers discovered that all dividing cells within a single spleen colony, which contained different types of blood cells, contained the same unique chromosomal marker. Each colony displayed its own unique chromosomal marker, seen in its dividing cells.9 Furthermore, when cells from a single spleen colony were re-injected into a second set of lethally-irradiated mice, donor-derived spleen colonies that contained the same unique chromosomal marker were often observed, indicating that these colonies had been regenerated from the same, single cell that had generated the first colony. Rarely, these colonies contained sufficient numbers of regenerative cells both to radioprotect secondary recipients (e.g., to prevent their deaths from radiation-induced blood cell loss) and to give rise to lymphocytes and myeloerythroid cells that bore markers of the donor-injected cells.10,11 These genetic marking experiments established the fact that cells that can both self-renew and generate most (if not all) of the cell populations in the blood must exist in bone marrow. At the time, such cells were called pluripotent HSCs, a term later modified to multipotent HSCs.12,13 However, identifying stem cells in retrospect by analysis of randomly chromosome-marked cells is not the same as being able to isolate pure populations of HSCs for study or clinical use.

Achieving this goal requires markers that uniquely define HSCs. Interestingly, the development of these markers, discussed below, has revealed that most of the early spleen colonies visible 8 to 10 days after injection, as well as many of the later colonies, visible at least 12 days after injection, are actually derived from progenitors rather than from HSCs. Spleen colonies formed by HSCs are relatively rare and tend to be present among the later colonies.14,15 However, these findings do not detract from Till and McCulloch's seminal experiments to identify HSCs and define these unique cells by their capacities for self-renewal and multilineage differentiation.

While much of the original work was, and continues to be, performed in murine model systems, strides have been made to develop assays to study human HSCs. The development of Fluorescence Activated Cell Sorting (FACS) has been crucial for this field (see Figure 2.2). This technique enables the recognition and quantification of small numbers of cells in large mixed populations. More importantly, FACS-based cell sorting allows these rare cells (1 in 2000 to less than 1 in 10,000) to be purified, resulting in preparations of near 100% purity. This capability enables the testing of these cells in various assays.

Figure 2.2. Enrichment and purification methods for hematopoietic stem cells. Upper panels illustrate column-based magnetic enrichment. In this method, the cells of interest are labeled with very small iron particles (A). These particles are bound to antibodies that only recognize specific cells. The cell suspension is then passed over a column through a strong magnetic field which retains the cells with the iron particles (B). Other cells flow through and are collected as the depleted negative fraction. The magnet is removed, and the retained cells are collected in a separate tube as the positive or enriched fraction (C). Magnetic enrichment devices exist both as small research instruments and large closed-system clinical instruments.

Lower panels illustrate Fluorescence Activated Cell Sorting (FACS). In this setting, the cell mixture is labeled with fluorescent markers that emit light of different colors after being activated by light from a laser. Each of these fluorescent markers is attached to a different monoclonal antibody that recognizes specific sets of cells (D). The cells are then passed one by one in a very tight stream through a laser beam (blue in the figure) in front of detectors (E) that determine which colors fluoresce in response to the laser. The results can be displayed in a FACS-plot (F). FACS-plots (see figures 3 and 4 for examples) typically show fluorescence levels per cell as dots or probability fields. In the example, four groups can be distinguished: Unstained, red-only, green-only, and red-green double labeling. Each of these groups, e.g., green fluorescence-only, can be sorted to very high purity. The actual sorting happens by breaking the stream shown in (E) into tiny droplets, each containing 1 cell, that then can be sorted using electric charges to move the drops. Modern FACS machines use three different lasers (that can activate different set of fluorochromes), to distinguish up to 8 to 12 different fluorescence colors and sort 4 separate populations, all simultaneously.

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By Jeanette Jacknin M.D.

Dr Jacknin will be speaking about Cosmaceuticals at the upcoming 17th World Congress on Anti-Aging and Regenerative Medicine in Orlando, Florida, April 23-25, 2009.

Stem cells have recently become a huge buzzword in the skincare world. But what does this really mean? Skincare specialists are not using embryonic stem cells; it is impossible to incorporate live materials into a skincare product. Instead, companies are creating products with specialized peptides and enzymes or plant stem cells which, when applied topically on the surface, help protect the human skin stem cells from damage and deterioration or stimulate the skin's own stem cells. National Stem Cell was one of the few companies who actually incorporated into their skin care an enzyme secreted from human embryonic stem cells, but they are in the process of switching over to use non-embryonic stem cells from which to take the beneficial enzyme.

Stem cells have the remarkable potential to develop into many different cell types in the body. When a stem cell divides, it can remain a stem cell or become another type of cell with a more specialized function, such as a skin cell. There are two types of stem cells, embryonic and adult.

Embryonic stem cells are exogenous in that they are harvested from outside sources, namely, fertilized human eggs. Once harvested, these pluripotent stem cells are grown in cell cultures and manipulated to generate specific cell types so they can be used to treat injury or disease.

Unlike embryonic stem cells, adult or multipotent stem cells are endogenous. They are present within our bodies and serve to maintain and repair the tissues in which they are found. Adult stem cells are found in many organs and tissues, including the skin. In fact, human skin is the largest repository of adult stem cells in the body. Skin stem cells reside in the basal layer of the epidermis where they remain dormant until they are activated by tissue injury or disease. 1

There is controversy surrounding the use of stem cells, as some experts say that any product that claims to affect the growth of stem cells or the replication process is potentially dangerous, as it may lead to out-of-control replication or mutation. Others object to using embryonic stem cells from an ethical point of view. Some researchers believe that the use of stem cell technology for a topical, anti-aging cosmetic trivializes other, more important medical research in this field.

The skin stem cells are found near hair follicles and sweat glands and lie dormant until they "receive" signals from the body to begin the repair mode. In skincare, the use of topical products stimulates the stem cell to split into two types of cells: a new, similar stem cell and a "daughter" cell, which is able to create almost every kind of new cell in a specialized system. This means that the stem cell can receive the message to create proteins, carbohydrates and lipids to help repair fine lines, wrinkles and restore and maintain firmness and elasticity.1

First to the market in Britain in April 2007 and the U.S. was ReVive's Peau Magnifique, priced at a staggering 1,050. Manufacturers claim it uses an enzyme called telomerase to "convert resting adult stem cells to newly-minted skin cells' and 'effectively resets your skin's "ageing clock" by a minimum of five years'. The product claims long-term use 'will result in a generation of new skin cells, firmer skin with a 45 per cent reduction in wrinkles and increased long-term skin clarity'. Peau Magnifique is the latest in a line of products developed by Dr Gregory Bays Brown, a former plastic surgeon.

In the course of his research into healing burns victims, Dr Brown discovered a substance called Epidermal Growth Factor (EGF) that is released in the body when there is an injury, and, when applied to burns or wounds, dramatically accelerates the healing process. He believed the same molecule could be used to regenerate ageing skin and went on to develop ReVive, a skincare range based around it. 2

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In 2006, Shinya Yamanaka of Kyoto University in Japan was the first to disprove the previous notion that reversible cell differentiation of mammals was impossible. He reprogrammed a fully differentiated mouse cell into a pluripotent stem cell by introducing four genes, Oct-4, SOX2, KLF4, and Myc, into the mouse fibroblast through gene-carrying viruses. With this method, he and his coworkers created induced pluripotent stem cells (iPS cells), the key component in this experiment.[1] Scientists have been able to conduct experiments that show the ability of iPS cells to treat and even cure diseases. In this experiment, tests were run on mice with inherited sickle cell anemia.Skin cells were turned into cells containing genes that transformed the cells into iPS cells. These replaced the diseased sickled cells, curing the test mice. The reprogramming of the pluripotent stem cells in mice was successfully duplicated with human pluripotent stem cells within about a year of the experiment on the mice.

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells. Red blood cells are flexible and round, moving easily through the blood vessels. Infected cells are shaped like a crescent or sickle (the namesake of the disease). As a result of this disorder the hemoglobin protein in red blood cells is faulty. Normal hemoglobin bonds to oxygen, then releases it into cells that need it. The blood cell retains its original form and is cycled back to the lungs and re-oxygenated.

Sickle cell hemoglobin, however, after giving up oxygen, cling together and make the red blood cell stiff. The sickle shape also makes it difficult for the red blood cell to navigate arteries and causes blockages.[2] This can cause intense pain and organ damage. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. Sickle cells also die in 1020 days as opposed to the traditional 120-day lifespan of a normal red blood cell.

Sickle cell anemia is inherited as an autosomal (meaning that the gene is not linked to a sex chromosome) recessive condition.[2] This means that the gene can be passed on from a carrier to his or her children. In order for sickle cell anemia to affect a person, the gene must be inherited from both the mother and the father, so that the child has two recessive sickle cell genes (a homozygous inheritance). People who inherit one sickle cell gene from one parent and one normal gene from the other parent, i.e. heterozygous patients, have a condition called sickle cell trait. Their bodies make both sickle hemoglobin and normal hemoglobin. They may pass the trait on to their children.

The effects of sickle cell anemia vary from person to person. People who have the disease suffer from varying degrees of chronic pain and fatigue. With proper care and treatment, the quality of health of most patients will improve. Doctors have learned a great deal about sickle cell anemia since its discovery in 1979. They know its causes, its effects on the body, and possible treatments for complications. Sickle cell anemia has no widely available cure. A bone marrow transplant is the only treatment method currently recognized to be able to cure the disease, though it does not work for every patient. Finding a donor is difficult and the procedure could potentially do more harm than good. Treatments for sickle cell anemia are generally aimed at avoiding crises, relieving symptoms, and preventing complications. Such treatments may include medications, blood transfusions, and supplemental oxygen.

During the first step of the experiment, skin cells (also known as fibroblasts) were collected from infected test mice and put in a culture. The fibroblasts were reprogrammed by infecting them with retroviruses that contained genes common to embryonic stem cells. These genes were the same four used by Yamanaka (Oct-4, SOX2, KLF4, and Myc) in his earlier study. The investigators were trying to produce cells with the potential to differentiate into any type of cell needed (i.e. pluripotent stem cells). As the experiment continued, the fibroblasts multiplied into identical copies of iPS cells. The cells were then treated to form the mutation needed to reverse the anemia in the mice. This was accomplished by restructuring the DNA containing the defective globin gene into DNA with the normal gene through the process of homologous recombination. The iPS cells then differentiated into blood stem cells, or hematopoietic stem cells. The hematopoietic cells were injected back into the infected mice, where they proliferate and differentiate into normal blood cells, curing the mice of the disease.[3][4][verification needed]

To determine whether the mice were cured from the disease, the scientists checked for the usual symptoms of sickle cell disease. They examined the blood for mean corpuscular volume (MCV) and red cell distribution width (RDW) and urine concentration defects. They also checked for sickled red blood cells. They examined the DNA through gel electrophoresis, checking for bands that display an allele that causes sickling. Compared to the untreated mice with the disease, which they used as a control, the treated animals had marked increases in RBC counts, healthy hemoglobin, and packed cell volume levels.[5]

Researchers examined the urine concentration defect, which results from RBC sickling in renal tubules and consequent reduction in renal medullary blood flow, and the general deteriorated systemic condition reflected by lower body weight and increased breathing.[5] They were able to see that these parts of the body of the mice had healed or improved. This indicated that all hematological and systemic parameters of sickle cell anemia improved substantially and were comparable to those in control mice.[5] They cannot say if this will work in humans because a safe way to inject the genes for the induced pluripotent cells is still needed.[citation needed]

The reprogramming of the induced pluripotent stem cells in mice was successfully duplicated in humans within a year of the successful experiment on the mice. This reprogramming was done in several labs and it was shown that the iPS cells in humans were almost identical to original embryonic stem cells (ES cells) that are responsible for the creation of all structures in a fetus.[1] An important feature of iPS cells is that they can be generated with cells taken from an adult, which would circumvent many of the ethical problems associated with working with ES cells. These iPS cells also have potential in creating and examining new disease models and developing more efficient drug treatments.[6] Another feature of these cells is that they provide researchers with a human cell sample, as opposed to simply using an animal with similar DNA, for drug testing.

One major problem with iPS cells is the way in which the cells are reprogrammed. Using gene-carrying viruses has the potential to cause iPS cells to develop into cancerous cells.[1] Also, an implant made using undifferentiated iPS cells, could cause a teratoma to form. Any implant that is generated from using these iPS cells would only be viable for transplant into the original subject that the cells were taken from. In order for these iPS cells to become viable in therapeutic use, there are still many steps that must be taken.[5][7]

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Policy Updates "Precision Medicine" Proposal Includes $215M for NIH, FDA, ONC

President Obamas Precision Medicine Initiative, which he unveiled on Jan. 30, will account for $215 million in his budget proposal. The funds will be divided between the National Institutes of Health (NIH), FDA and the Office of the National Coordinator for Health Information Technology (ONC), with the majority of the money being used for the development of a voluntary national research cohort. Read PMC's press release on the initiative Watch Obama's announcement of the initiative View the White House fact sheet

21st Century Cures Draft Tackles Device Review Pathways, Biomarkers Among other topics, the U.S. House Energy & Commerce Committee's recently released "21st Century Cures" draft bill tackles innovative device review pathways and biomarker qualification. Access a summary of the bill

Senate HELP Committee White Paper Explores FDA, NIH Processes The U.S. Senate Health, Education, Labor & Pensions (HELP) Committee's recent white paper explores how well FDA and the National Institutes of Health (NIH) processes support innovation. Download the white paper

In its response letter to FDA on the agency's proposed framework for regulating laboratory-developed tests (LDTs), PMC suggests that the agency publish draft guidance documents on risk classification and Clinical Laboratory Improvement Amendments (CLIA) harmonization alongside a second draft of the original framework documents. Download the Letter

PMC Joins Stakeholders for "Precision Medicine" Announcement PMC's Amy Miller joined stakeholders at the White House on Jan. 30 when Obama announced his "Precision Medicine Initiative." Watch the announcement

PMC Engages 21st Century Cures PMC advocates for additional draft guidance documents from FDA in this 21st Century Cures response letter. Download the letter

PMC Analysis: 20 Percent of 2014 Approvals Personalized Medicines A PMC analysis of FDA's 2014 novel new drug approvals shows that more than 20 percent were personalized medicines. Download the analysis

PMC Summarizes 2014 In this blog post, PMC's Amy Miller reflects on 2014, which she calls "the year of the patient." Read the post

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Articles

Personalized medicine has a vision to avoid a costly and prolonged trial and error approach that can leave the patient anguishing unnecessarily from side effects, while simultaneously losing precious time in the fight against the disease. As evidence of the benefits of personalized medicine continue to grow, a network of laws, policy, education, and clinical information is building around personalized medicine to support its use in the medical community.

Personalized medicine introduces new treatment protocols, which create the ability to use molecular tracking elements that signal the risk of disease on a genetic level. This alerts the medical community to its presence before clinical indications and symptoms appear. This healthcare strategy is focused on preventive medicine and intervention, rather than a reaction to highly developed stages of disease. Such a strategy intends to delay disease onset and help the patient avoid mounting healthcare costs.

The cost of healthcare in the United States is on an upward climb, which is highly unsustainable. Proponents of personalized medicine believe that by following the practice of personalized medicine and working it into the existing healthcare system, we as a nation can resolve many of the inefficiencies inherit therein. These inefficiencies, such as a dosing system based on trial and error, severe reactions to a drugs, reactive treatment, and poorly timed diagnoses are contributing to mounting healthcare costs.

There are specific examples that the pharmacogenic system of personalized medicine is generating tangible results. Authors of various studies exploring potential healthcare cost savings from using genetic testing estimated that the use of a genetic test to properly dose various pharmaceuticals could reduce overall healthcare costs.

The substantiation of the benefits of personalized medicine is accumulating rapidly, and the real world applications of this knowledge are beginning to take root as well. Three areas of technology are key to making personalized medicine a presence in our healthcare system. New tools to decode the human genome, large-scale studies that help link genetic variation to disease, and a healthcare information technology system that supports the integration of clinical data in addition to the research is spawned from, as well as the ability of physicians to track every aspect of patient care according to genetic and molecular profiles to facilitate tailoring of treatment.

In addition, technological advancements have enabled personalized medicine to be brought to the public through the use of personal genetic testing. The systems for sequencing DNA or checking for genetic variation are essential to progress in both research and doctor to patient applications. DNA microscopes borrow technology from circuit manufacturing, helping scientists detect hundreds of thousands of genetic variations on a single chip. They are instrumental in identifying which variations are associated with any given disease.

In the last five years, the number of changes in single DNA chemical building blocks of the genome, which can be examined in a 1 cm chip increased from 250,000 to 920,000. It is estimated that there are millions such variations in the human genome. There are many subfields that are being employed as possible tools in the study of personalized medicine. Genomics and Transcriptomics offer information on genetic variation as well as the level of gene expression. Metabolomics examines the small molecules that are the byproducts of chemical reactions within the human body. Proteomics examines the entire formation of proteins made by cells. These tools are very important because what was once thought to be a single disease characterized by a common set of physical signs, for instance, asthma or breast cancer and symptoms may be several distinct conditions, or it may be a single disease with a variety of handling options.

Those in favor of personalized medicine see a future in which each person, on the day of their birth, is provided with his full genomic sequence to place into a personal medical record. That information from a personal genome would then be used to allow physicians to develop a more proactive healthcare approach based on the patients susceptibility to different diseases. The reactions to pharmaceuticals and reactions to different types of medicine would be assisted with that information as well. Advances in genomic sequencing are clearly on an exponential curve, and many scientists believe that with the help of venture capital we will see a dollar amount applied on a genome in the coming years.

Within the past few years, a growing number of businesses have begun to offer direct to consumer genetic tests. These tests are designed to help individuals better understand their genetic predisposition for a given health condition. As supporting technology has become less exclusive, genomics companies have started on the track to offer consumers whole genome scanning and associated information on individual genetic predisposition for a wide-ranging list of conditions concurrently.

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California sees opportunities in personalized medicine. Earlier this month, Governor Brown announced the creation of a two year initiative California Initiative to Advance Precision Medicine to begin building infrastructure and assembling resources necessary to advance precision medicine-orientated data, tools and applications. See California Launches Initiative to Advance Precision Medicine. Continue reading this entry

President Obamas precision medicine initiative earmarked over $200 million from his proposed 2016 budget to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the personalized information we need to keep ourselves and our families healthier.[1] The National Institutes of Health (NIH) and the National Cancer Institute (NCI) will be the major benefactors if the proposed budget for this initiative is approved. A recent article co-authored by Drs. Francis S. Collins and Harold Varmus, directors of the NIH and NCI, respectively, identifies precision medicines critical needs and discusses how the Presidents initiative will help accelerate progress toward a new era of precision medicine.[2] Continue reading this entry

23andMe is not a traditional diagnostics company. Rather than seeking to directly sell its services to health care professionals, 23andMe went straight to the consumer, offering genetic screening and analysis in a mail-order fashion. For ninety-nine dollars, customers only needed to send in a saliva sample and the company would analyze the customers genetic information, interpret and report the results directly to the consumer, bypassing the physician or genetic counselor. Continue reading this entry

Late last year, the USPTO issued its modified and revised 2014 Interim Guidance on Patent Subject Matter Eligibility (Interim Guidance) to assist patent examiners and the public in determining if a claim presented for examination is patent-eligible in view of recent U.S. Supreme Court decisions, namely Alice Corp., Myriad, and Mayo. In addition to streamlining the analysis of patent claims directed to any one of the judicial exceptions to patent-eligibility (abstract ideas, laws of nature and physical phenomena), the USPTO provided illustrative examples to be used in combination with the Interim Guidance. One such example discussed the patent-eligibility of claims directed to stem cells or regenerative medicine. Fortunatelyfor these industries, application of the Interim Guidance as discussed in the example finds that many stem cell technologies are patent-eligible. Continue reading this entry

Personalized medicine has a friend in high places. President Obama recently announced an initiative to support precision or personalized medicine. In very general terms, the President stated during his 2015 State of the Union address that he wanted the United States to lead a new era of medicine an era that delivers the right treatment at the right time. Continue reading this entry

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A spinal cord injury (SCI) is an injury to the spinal cord resulting in a change, either temporary or permanent, in the cord's normal motor, sensory, or autonomic function.[1] Common causes of damage are trauma (car accident, gunshot, falls, sports injuries, etc.) or disease (transverse myelitis, polio, spina bifida, Friedreich's ataxia, etc.). The spinal cord does not have to be severed in order for a loss of function to occur. Depending on where the spinal cord and nerve roots are damaged, the symptoms can vary widely, from pain to paralysis to incontinence.[2][3] Spinal cord injuries are described at various levels of "incomplete", which can vary from having no effect on the patient to a "complete" injury which means a total loss of function.

Treatment of spinal cord injuries starts with restraining the spine and controlling inflammation to prevent further damage. The actual treatment can vary widely depending on the location and extent of the injury. In many cases, spinal cord injuries require substantial physical therapy and rehabilitation, especially if the patient's injury interferes with activities of daily life.

Research into treatments for spinal cord injuries includes controlled hypothermia and stem cells, though many treatments have not been studied thoroughly and very little new research has been implemented in standard care.

The American Spinal Injury Association (ASIA) first published an international classification of spinal cord injury in 1982, called the International Standards for Neurological and Functional Classification of Spinal Cord Injury. Now in its sixth edition, the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI) is still widely used to document sensory and motor impairments following SCI.[4] It is based on neurological responses, touch and pinprick sensations tested in each dermatome, and strength of the muscles that control ten key motions on both sides of the body, including hip flexion (L2), shoulder shrug (C4), elbow flexion (C5), wrist extension (C6), and elbow extension (C7).[5] Traumatic spinal cord injury is classified into five categories on the ASIA Impairment Scale:

Dimitrijevic[6] proposed a further class, the so-called discomplete lesion, which is clinically complete but is accompanied by neurophysiological evidence of residual brain influence on spinal cord function below the lesion.[7]

Signs recorded by a clinician and symptoms experienced by a patient will vary depending on where the spine is injured and the extent of the injury. These are all determined by the area of the body that the injured area of the spine innervates. A section of skin innervated through a specific part of the spine is called a dermatome, and spinal injury can cause pain, numbness, or a loss of sensation in the relevant areas. A group of muscles innervated through a specific part of the spine is called a myotome, and injury to the spine can cause problems with voluntary motor control. The muscles may contract uncontrollably, become weak, or be completely paralysed. The loss of muscle function can have additional effects if the muscle is not used, including atrophy of the muscle and bone degeneration.

A severe injury may also cause problems in parts of the spine below the injured area. In a "complete" spinal injury, all functions below the injured area are lost. An "incomplete" spinal cord injury involves preservation of motor or sensory function below the level of injury in the spinal cord.[8] If the patient has the ability to contract the anal sphincter voluntarily or to feel a pinprick or touch around the anus, the injury is considered to be incomplete. The nerves in this area are connected to the very lowest region of the spine, the sacral region, and retaining sensation and function in these parts of the body indicates that the spinal cord is only partially damaged. This includes a phenomenon known as sacral sparing which involves the preservation of cutaneous sensation in the sacral dermatomes, even though sensation is impaired in the thoracic and lumbar dermatomes below the level of the lesion.[9] Sacral sparing may also include the preservation of motor function (voluntary external anal sphincter contraction) in the lowest sacral segments.[8] Sacral sparing has been attributed to the fact that the sacral spinal pathways are not as likely as the other spinal pathways to become compressed after injury.[9] The sparing of the sacral spinal pathways can be attributed to the lamination of fibers within the spinal cord.[9]

A complete injury frequently means that the patient has little hope of functional recovery.[10] The relative incidence of incomplete injuries compared to complete spinal cord injury has improved over the past half century, due mainly to the emphasis on faster and better initial care and stabilization of spinal cord injury patients.[11] Most patients with incomplete injuries recover at least some function.[10]

Determining the exact "level" of injury is critical in making accurate predictions about the specific parts of the body that may be affected by paralysis and loss of function. The level is assigned according to the location of the injury by the vertebra of the spinal column closest to the injury on the spinal cord.

Cervical (neck) injuries usually result in full or partial tetraplegia (Quadriplegia). However, depending on the specific location and severity of trauma, limited function may be retained.

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A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy axons -- extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.

Improved emergency care for people with spinal cord injuries and aggressive treatment and rehabilitation can minimize damage to the nervous system and even restore limited abilities. Respiratory complications are often an indication of the severity of spinal cord injury About one-third of those with injury to the neck area will need help with breathing and require respiratory support. The steroid drug methylprednisolone appears to reduce the damage to nerve cells if it is given within the first 8 hours after injury. Rehabilitation programs combine physical therapies with skill-building activities and counseling to provide social and emotional support.Electrical simulation of nerves by neural prosthetic devices may restore specific functions, including bladder, breathing, cough, and arm or leg movements, though eligibility for use of these devices depends on the level and type of the spinal cord injury.

Spinal cord injuries are classified as either complete or incomplete. An incomplete injury means that the ability of the spinal cord to convey messages to or from the brain is not completely lost. People with incomplete injuries retain some motor or sensory function below the injury. A complete injury is indicated by a total lack of sensory and motor function below the level of injury. People who survive a spinal cord injury will most likely have medical complications such as chronic pain and bladder and bowel dysfunction, along with an increased susceptibility to respiratory and heart problems. Successful recovery depends upon how well these chronic conditions are handled day to day.

Surgery to relieve compression of the spinal tissue by surrounding bones broken or dislocated by the injury is often necessary, through timing of such surgery may vary widely. A recent prospective multicenter trial called STASCIS is exploring whether performing decompression surgery early (less than 24 hours following injury) can improve outcomes for patients with bone fragments or other tissues pressing on the spinal cord.

The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. Advances in research are giving doctors and patients hope that repairing injured spinal cords is a reachable goal. Advances in basic research are also being matched by progress in clinical research, especially in understanding the kinds of physical rehabilitation that work best to restore function. Some of the more promising rehabilitation techniques are helping spinal cord injury patients become more mobile.

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Spinal Cord Injury Information Page: National Institute of ...

Recommendation and review posted by sam

Scientists continue to investigate new ways to better understand and treat spinal cord injuries.

Much of this research is supported by the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH). Other NIH components, as well as the Department of Veterans Affairs, other Federal agencies, research institutions, and voluntary health organizations, also fund and conduct basic to clinical research related to improvement of function in paralyzed individuals.

Many hospitals have developed specialized centers for spinal cord injury care. Many of these bring together spinal cord injury researchers from a variety of disciplines for partnerships regarding basic and clinical research, clinical care, and knowledge translation.

Current research is focused on advancing our understanding of four key principles of spinal cord repair:

Neuroprotectionprotecting surviving nerve cells from further damage

Regenerationstimulating the regrowth of axons and targeting their connections appropriately

Cell replacementreplacing damaged nerve or glial cells

Retraining CNS circuits and plasticity to restore body functions

A spinal cord injury is complex. Repairing it has to take into account all of the different kinds of damage that occur during and after the injury. Because the molecular and cellular environment of the spinal cord is constantly changing from the moment of injury until several weeks or even months later, combination therapies will have to be designed to address specific types of damage at different stages of the injury.

Neuroprotection

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Welcome to Apparelyzed, a free spinal cord injury peer support website run by individuals with spinal cord injuries. Here you will find health information which has been submitted, and is discussed between the spinal injury community. Please use the links on the left of this page to navigate the website, and the section index below to navigate this page. We hope you find the website useful, and consider joining in on some of the discussions in the spinal cord injury forum. Spinal Cord Injury Homepage Quick Links What is a Spinal Cord Injury ? A spinal cord injury (SCI) is generally defined as damage or trauma to the spinal cord that results in a loss or impaired function. The paralysis from the damaged spinal cord may affect mobility, sensation, bladder function, bowel function or sexual function. When a person has been paralysed due to a spinal cord injury, paraplegic and quadriplegic (tetraplegic) are terms used to describe the resultant medical condition. The classification of spinal cord injury depends on the spinal cord injury level and severity of a persons paralysis, and how it affects their limbs. The spinal cord injury level is usually referred to alpha numerically, relating to the affected segment in the spinal cord, ie, C4, T5, L5 etc. Common causes of damage to the spinal cord are trauma (car/motorcycle accident, gunshot, falls, sports injuries, physical attacks), or disease (Transverse Myelitis, Polio, Spina Bifida, Friedreich's Ataxia, spinal cord tumour, spinal stenosis, etc.). The resulting damage to the spinal cord is known as a lesion, and the paralysis is known as quadriplegia or quadraplegia / tetraplegia if the injury is in the cervical (neck) region, or as paraplegia if the injury is in the thoracic, lumbar or sacral region. It is possible for someone to suffer a broken neck,or a broken back without becoming paralysed. This occurs when there is a fracture or dislocation of the vertebrae, but the spinal cord has not been damaged. Sometimes minor swelling of the spinal cord will result in temporary paralysis, which can be recovered from after several weeks or months.

If you would like to read more about people's experiences of Cauda Equina Syndrome, please visit the discussion area of the Cauda Equina Syndrome Forum.

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Spinal Cord Injury Support - Paraplegic and Quadriplegic

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The spinal cord is a long, thin, tubular bundle of nervous tissue and support cells that extends from the medulla oblongata in the brainstem to the lumbar region of the vertebral column. The brain and spinal cord together make up the central nervous system (CNS). The spinal cord begins at the occipital bone and extends down to the space between the first and second lumbar vertebrae; it does not extend the entire length of the vertebral column. It is around 45cm (18in) in men and around 43cm (17in) long in women. Also, the spinal cord has a varying width, ranging from 13mm (12in) thick in the cervical and lumbar regions to 6.4mm (14in) thick in the thoracic area. The enclosing bony vertebral column protects the relatively shorter spinal cord. The spinal cord functions primarily in the transmission of neural signals between the brain and the rest of the body but also contains neural circuits that can independently control numerous reflexes and central pattern generators. The spinal cord has three major functions: as a conduit for motor information, which travels down the spinal cord, as a conduit for sensory information in the reverse direction, and finally as a center for coordinating certain reflexes. [1]

The spinal cord is the main pathway for information connecting the brain and peripheral nervous system. The length of the spinal cord is much shorter as compared to the length of the vertebral column. The human spinal cord extends from the foramen magnum and continues through to the conus medullaris near the second lumbar vertebra, terminating in a fibrous extension known as the filum terminale.

It is about 45cm (18in) long in men and around 43cm (17in) in women, ovoid-shaped, and is enlarged in the cervical and lumbar regions. The cervical enlargement, located from C3 to T2 spinal segments, is where sensory input comes from and motor output goes to the arms. The lumbar enlargement, located between L1 and S3 spinal segments, handles sensory input and motor output coming from and going to the legs.

The spinal cord (and brain) are protected by three layers of tissue, called spinal meninges, that surround the canal. The dura mater is the outermost layer, and it forms a tough protective coating. Between the dura mater and the surrounding bone of the vertebrae is a space called the epidural space. The epidural space is filled with adipose tissue, and it contains a network of blood vessels. The arachnoid mater is the middle protective layer. Its name comes from the fact that the tissue has a spiderweb-like appearance. The space between the arachnoid and the underlying pia mater is called the subarachnoid space. The subarachnoid space contains cerebrospinal fluid (CSF). The medical procedure known as a lumbar puncture (or "spinal tap") involves use of a needle to withdraw cerebrospinal fluid from the subarachnoid space, usually from the lumbar region of the spine. The pia mater is the innermost protective layer. It is very delicate and it is tightly associated with the surface of the spinal cord. The cord is stabilized within the dura mater by the connecting denticulate ligaments, which extend from the enveloping pia mater laterally between the dorsal and ventral roots. The dural sac ends at the vertebral level of the second sacral vertebra.

In cross-section, the peripheral region of the cord contains neuronal white matter tracts containing sensory and motor neurons. Internal to this peripheral region is the grey matter. The nerve cell bodies of the grey matter is contained in the three grey columns of the spinal cord that give the butterfly-shaped central region its shape. This central region surrounds the central canal, which is an extension of the fourth ventricle and contains cerebrospinal fluid.

The spinal cord has a shape that is compressed dorso-ventrally, giving it an elliptical shape. The cord has grooves in the dorsal and ventral sides. The posterior median sulcus is the groove in the dorsal side, and the anterior median fissure is the groove in the ventral side. In the spinal cord there are some tracts that brings information from the brain.

The human spinal cord is divided into 31 different segments. At every segment, right and left pairs of spinal nerves (mixed; sensory and motor) form. Six to eight motor nerve rootlets branch out of right and left ventro lateral sulci in a very orderly manner. Nerve rootlets combine to form nerve roots. Likewise, sensory nerve rootlets form off right and left dorsal lateral sulci and form sensory nerve roots. The ventral (motor) and dorsal (sensory) roots combine to form spinal nerves (mixed; motor and sensory), one on each side of the spinal cord. Spinal nerves, with the exception of C1 and C2, form inside intervertebral foramen (IVF). Note that at each spinal segment, the border between the central and peripheral nervous system can be observed. Rootlets are a part of the peripheral nervous system.

In the upper part of the vertebral column, spinal nerves exit directly from the spinal cord, whereas in the lower part of the vertebral column nerves pass further down the column before exiting. The terminal portion of the spinal cord is called the conus medullaris. The pia mater continues as an extension called the filum terminale, which anchors the spinal cord to the coccyx. The cauda equina ("horse's tail") is the name for the collection of nerves in the vertebral column that continue to travel through the vertebral column below the conus medullaris. The cauda equina forms as a result of the fact that the spinal cord stops growing in length at about age four, even though the vertebral column continues to lengthen until adulthood. This results in the fact that sacral spinal nerves actually originate in the upper lumbar region.

The spinal cord can be anatomically divided into 31 spinal segments based on the origins of the spinal nerves. Each segment of the spinal cord is associated with a pair of ganglia, called dorsal root ganglia, which are situated just outside of the spinal cord. These ganglia contain cell bodies of sensory neurons. Axons of these sensory neurons travel into the spinal cord via the dorsal roots.

Ventral roots consist of axons from motor neurons, which bring information to the periphery from cell bodies within the CNS. Dorsal roots and ventral roots come together and exit the intervertebral foramina as they become spinal nerves.

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Spinal cord - Wikipedia, the free encyclopedia

Recommendation and review posted by sam

The spinal cord is the major bundle of nerves carrying impulses to and from the brain to the rest of the body. Rings of bone, called vertebrae, surround the spinal cord. These bones constitute the spinal column or back bones.

Spinal cord injury is the result of a direct trauma to the nerves themselves or indirect damage to the bones and soft tissues and vessels surrounding the spinal cord.

Visiting the ER for Chronic Pain

Youre a chronic pain patient who takes several prescription narcotics to control your symptoms. Then one weekend, excruciating pain lands you in the emergency room. There, a doctor grills you about your medications, in part to make sure that youre a legitimate pain patient, not someone seeking drugs. What can you do to help the ER doctor to believe you? Its not always easy to tell chronic pain patients from drug-seeking patients, says Howard Blumstein, MD, FAAEM, president of the American Academy...

Read the Visiting the ER for Chronic Pain article > >

Spinal cord damage results in a loss of function, such as mobility or feeling. In most people who have spinal cord injury, the spinal cord is intact. Spinal cord injury is not the same as back injury, which may result from pinched nerves or ruptured disks. Even when a person sustains a break in a vertebra or vertebrae, there may not be any spinal cord injury if the spinal cord itself is not affected.

Spinal cord injuries may result from falls, diseases like polio or spina bifida (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings), motor vehicle accidents, sports injuries, industrial accidents, and assaults, among other causes. If the spine is weak because of another condition, such as arthritis, minor injuries can cause spinal cord trauma.

There are two kinds of spinal cord injury -- complete and incomplete. In a complete injury, a person loses all ability to feel and voluntarily move below the level of the injury. In an incomplete injury, there is some functioning below the level of the injury.

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Spinal Cord Injuries Causes and Types - WebMD

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Neuroxcels innovative Comprehensive Activity-based Strength Training (C.A.S.T) program offers new hope to postrehabilitation clients recovering from spinal cord injury, stroke andother neurological disorders at our Inclusive Fitness Strength and Conditioning Training Facility.

Based in South Florida, Neuroxcel is the only facility in the State of Florida to offer robotic-assisted gait strengthtraining and functional pattern movement exercises to the public. Neuroxcel takes individuals with spinal cord injury, stroke and other neurological disorders through apost rehabilitation functional movement exercise strength and condtioning training program. Neuroxcel's client's regain the most strength and lost physical ability as a by product of the strength and conditioning training they recieve in the shortest period of time.

Neuroxcels clients are ready to achieve results because they have researched their injury and Neuroxcels C.A.S.T program. They're ready to make the commitment it takes to maximize their individual results. Our degreed and certified exercise training specialists who work with special populations help clients achieve peak physical condition by building total body muscle mass, enhancing muscle memory with exercises,facilitate weight bearing activites andother functional strengtheningexercises for people with neurological conditions.

With our help and the clients commitment, stroke, spinal cord injured andother people with neurological conditions donot have to accepta life of muscle atrophy, loss of strength, function and overall debilitation. We incorporate cutting-edge technologies, including the Hocoma Lokomat Pro, into each qualified clients' weekly routine. Monthly membership includes up to 3 hours in the C.A.S.T. program, available 5 days a week.

Neuroxcel's Inclusive Fitness Strength and Condtioning Training Facility, located in beautiful Palm Beach County, offers year round sunshine and an affordable and accessible living environment. Our clients not only train with us but have the opportunity to enjoy the many educational opportunities, recreational amenities, and social activities with friends and family.

At a cost of less than $54.92 per hour, no other program or facility can compare to the Inclusive Fitness strength and conditioning training Neuroxcel can offer you! Call 1-866-391-62471-866-391-6247 today to set up a tour of Neuroxcels South Florida facility.

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Spinal Cord Injury Recovery Treatment - Neuroxcel

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Regenerative Medicine in the News...

Designing a Synthetic Gel that Changes Shape and Moves via Its Own Internal Energy

By developing a new computational model, McGowan Institute for Regenerative Medicine affiliated faculty member Anna Balazs, PhD, and Pitts Olga Kuksenok, PhD, have designed a synthetic polymer gel that can utilize internally generated chemical energy to undergo shape-shifting and self-sustained propulsion.

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Clifford Brubaker to End 25-Year Tenure as Dean of Health and Rehabilitation Sciences

Clifford E. Brubaker, PhD, who has served as professor and dean of the University of Pittsburgh School of Health and Rehabilitation Sciences for nearly 25 years, will step down from the deanship on July 1. Dr. Brubaker, a Distinguished Service Professor of Health and Rehabilitation Sciences, also holds appointments in the McGowan Institute for Regenerative Medicine, the Department of Neurological Surgery, and the Clinical and Translational Science Institute.

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Dr. Krzysztof Matyjaszewski Wins Dreyfus Prize

Krzysztof Matyjaszewski, PhD, the J.C. Warner University Professor of Natural Sciences at Carnegie Mellon University, has won the 2015 Dreyfus Prize in the Chemical Sciences, an international prize given every 2 years to recognize accomplishments in different areas of chemistry. Dr. Matyjaszewski is also a McGowan Institute for Regenerative Medicine affiliated faculty member.

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Regenerative Medicine at the McGowan Institute

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Hypogonadotropic hypogonadism (HH), also known as secondary or central hypogonadism, as well as gonadotropin-releasing hormone deficiency or gonadotropin deficiency (GD), is a condition which is characterized by hypogonadism due to an impaired secretion of gonadotropins, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH), by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production.[1]

The type of HH, based on its cause, may be classified as either primary or secondary. Primary HH, also called isolated HH, is responsible for only a small subset of cases of HH, and is characterized by an otherwise normal function and anatomy of the hypothalamus and anterior pituitary. It is caused by congenital syndromes such as Kallmann syndrome, CHARGE syndrome, and gonadotropin-releasing hormone (GnRH) insensitivity. Secondary HH, also known as acquired or syndromic HH, is far more common than primary HH, and is responsible for most cases of the condition. It has a multitude of different causes, including brain or pituitary tumors, pituitary apoplexy, head trauma, ingestion of certain drugs, and certain systemic diseases and syndromes.[1]

Primary and secondary HH can also be attributed to a genetic trait inherited from the biologic parents. For example, the male mutations of the GnRH coding gene could result in HH. Hormone replacement can be used to initiate puberty and continue if the gene mutation occurs in the gene coding for the hormone. Chromosomal mutations tend to affect the androgen production rather than the HPG axis.

Examples of symptoms of hypogonadism include delayed, reduced, or absent puberty, low libido, and infertility.

Treatment of HH may consist of administration of either a GnRH agonist or a gonadotropin formulation in the case of primary HH and treatment of the root cause (e.g., a tumor) of the symptoms in the case of secondary HH. Alternatively, hormone replacement therapy with androgens and estrogens in males and females, respectively, may be employed.

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Hypogonadotropic hypogonadism - Wikipedia, the free ...

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Key Messages:

Although a stem cell transplant (sometimes called a bone marrow transplant) is an effective treatment for several types of cancer, it can cause a number of different side effects. The type and intensity of these side effects vary from person to person and depend on the kind of transplant performed, the person's overall health, and other factors. Your health care team will work with you to prevent side effects or manage any that occur. This is called palliative or supportive care and is an important part of your overall treatment plan. Be sure to talk with your health care team about any side effects you experience, including new symptoms or a change in symptoms.

The two most serious side effects of stem cell transplantation are infection and graft-versus-host disease.

Infection

The chemotherapy and/or radiation therapy given before a stem cell transplant weakens a persons immune system, lowering the bodys defenses against bacteria, viruses, and fungi. That means stem cell recipients are especially vulnerable to infection during this early period of treatment.

Although most people think the greatest risk of infection is from visitors or food, most infections that occur during the first few weeks after a transplant are caused by organisms that are already in the patient's lungs, sinuses, skin, and intestines. Fortunately, most of these infections are relatively easy to treat with antibiotics.

The reduced immunity of the early transplant period lasts about two weeks, after which the immune system is back to near full strength and can keep most common germs at bay without the help of medications. This is true for both autologous (AUTO) transplant recipients (who receive their own stem cells) and allogeneic (ALLO) transplant recipients (who receive stem cells from another person).

However, a risk of serious infection remains for ALLO transplant recipients because they are given anti-rejection drugs. These drugs suppress the immune system to prevent the body from rejecting the donors stem cells. However, this low immunity also leaves the body more at risk for infection. This risk increases when more anti-rejection drugs are needed. Your treatment team will work with you to prevent and manage infections.

Graft-versus-host disease

People who have an ALLO transplant are also at risk of developing a post-transplant illness called graft-versus-host disease (GVHD). It occurs when the transplanted stem cells recognize the patients body as foreign and attack it, causing inflammation. GVHD ranges from mild to life-threatening. AUTO transplant recipients do not face this risk because the transplanted stem cells come from their own bodies.

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Side Effects of Stem Cell/Bone Marrow Transplantation ...

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"Inbred" redirects here. For the 2011 British film, see Inbred (film).

Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically, in contrast to outcrossing, which refers to mating unrelated individuals.[1] By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from incestuous sexual relationships and consanguinity.

Inbreeding results in homozygosity, which can increase the chances of offspring being affected by recessive or deleterious traits.[2] This generally leads to a decreased biological fitness of a population[3][4] (called inbreeding depression), which is its ability to survive and reproduce. An individual who inherits such deleterious traits is referred to as inbred. The avoidance of such deleterious recessive alleles caused by inbreeding, via inbreeding avoidance mechanisms, is the main selective reason for outcrossing.[5][6] Crossbreeding between populations also often has positive effects on fitness-related traits.[7]

Inbreeding is a technique used in selective breeding. In livestock breeding, breeders may use inbreeding when, for example, trying to establish a new and desirable trait in the stock, but will need to watch for undesirable characteristics in offspring, which can then be eliminated through further selective breeding or culling. Inbreeding is used to reveal deleterious recessive alleles, which can then be eliminated through assortative breeding or through culling. In plant breeding, inbred lines are used as stocks for the creation of hybrid lines to make use of the effects of heterosis. Inbreeding in plants also occurs naturally in the form of self-pollination.

Offspring of biologically related persons are subject to the possible impact of inbreeding, such as congenital birth defects. The chances of such disorders is increased the closer the relationship of the biological parents. (See coefficient of inbreeding.) This is because such pairings increase the proportion of homozygous zygotes in the offspring, in particular deleterious recessive alleles, which produce such disorders.[8] (See inbreeding depression.) Because most recessive alleles are rare in populations, it is unlikely that two unrelated marriage partners will both be carriers of the alleles. However, because close relatives share a large fraction of their alleles, the probability that any such deleterious allele is inherited from the common ancestor through both parents is increased dramatically. Contrary to common belief, inbreeding does not in itself alter allele frequencies, but rather increases the relative proportion of homozygotes to heterozygotes. However, because the increased proportion of deleterious homozygotes exposes the allele to natural selection, in the long run its frequency decreases more rapidly in inbred population. In the short term, incestuous reproduction is expected to produce increases in spontaneous abortions of zygotes, perinatal deaths, and postnatal offspring with birth defects.[9] The advantages of inbreeding may be the result of a tendency to preserve the structures of alleles interacting at different loci that have been adapted together by a common selective history.[10]

Malformations or harmful traits can stay within a population due to a high homozygosity rate and it will cause a population to become fixed for certain traits, like having too many bones in an area, like the vertebral column in wolves on Isle Royale or having cranial abnormalities in Northern elephant seals, where their cranial bone length in the lower mandibular tooth row has changed. Having a high homozygosity rate is bad for a population because it will unmask recessive deleterious alleles generated by mutations, reduce heterozygote advantage, and it is detrimental to the survival of small, endangered animal populations.[11] When there are deleterious recessive alleles in a population it can cause inbreeding depression. The authors think that it is possible that the severity of inbreeding depression can be diminished if natural selection can purge such alleles from populations during inbreeding.[12] If inbreeding depression can be diminished by natural selection than some traits, harmful or not, can be reduced and change the future outlook on a small, endangered populations.

There may also be other deleterious effects besides those caused by recessive diseases. Thus, similar immune systems may be more vulnerable to infectious diseases (see Major histocompatibility complex and sexual selection).[13]

Inbreeding history of the population should also be considered when discussing the variation in the severity of inbreeding depression between and within species. With persistent inbreeding, there is evidence that shows inbreeding depression becoming less severe. This is associated with the unmasking and eliminating of severely deleterious recessive alleles. It is not likely, though, that eliminating can be so complete that inbreeding depression is only a temporary phenomenon. Eliminating slightly deleterious mutations through inbreeding under moderate selection is not as effective. Fixation of alleles most likely occurs through Mullers Ratchet, when an asexual populations genomes accumulate deleterious mutations that are irreversible.[14]

Autosomal recessive disorders occur in individuals who have two copies of the gene for a particular recessive genetic mutation.[15] Except in certain rare circumstances, such as new mutations or uniparental disomy, both parents of an individual with such a disorder will be carriers of the gene. These carriers do not display any signs of the mutation and may be unaware that they carry the mutated gene. Since relatives share a higher proportion of their genes than do unrelated people, it is more likely that related parents will both be carriers of the same recessive gene, and therefore their children are at a higher risk of a genetic disorder. The extent to which the risk increases depends on the degree of genetic relationship between the parents: The risk is greater when the parents are close relatives and lower for relationships between more distant relatives, such as second cousins, though still greater than for the general population.[16] A study has provided the evidence for inbreeding depression on cognitive abilities among children, with high frequency of mental retardation among offspring in proportion to their increasing inbreeding coefficients.[17]

Children of parent-child or sibling-sibling unions are at increased risk compared to cousin-cousin unions.[18]

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Inbreeding - Wikipedia, the free encyclopedia

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Nephritis Classification and external resources MeSH D009393

Nephritis is inflammation of the kidneys and may involve the glomeruli, tubules, or interstitial tissue surrounding the glomeruli and tubules.[1] The term nephritis is derived from the Greek word for kidney, .[2]

Nephritis is often caused by infections, toxins, and autoimmune diseases. It can be caused by infection, but is most commonly caused by autoimmune disorders that affect the major organs. For example, those with lupus are at a much higher risk for developing nephritis. In rare cases nephritis can be genetically inherited, though it may not present in childhood.

Nephritis is the most common producer of glomerular injury. It is a disturbance of the glomerular structure with inflammatory cell proliferation. This can lead to reduced glomerular blood flow, leading to reduced urine output (oliguria) and retention of waste products (uremia). As a result, red blood cells may leak out of damaged glomeruli, causing blood to appear in the urine (hematuria). Low renal blood flow activates the renin-angiotensin-aldosterone system (RAAS), causing fluid retention and mild hypertension.

Nephritis is a serious medical condition which is the eighth highest cause of human death. As the kidneys inflame, they begin to excrete needed protein from the body into the urine stream. This condition is called proteinuria. Loss of necessary protein due to nephritis can result in several life-threatening symptoms. The most serious complication of nephritis can occur if there is significant loss of the proteins that keep blood from clotting excessively. Loss of these proteins can result in blood clots causing sudden stroke.

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Nephritis - Wikipedia, the free encyclopedia

Recommendation and review posted by Bethany Smith

Stem Cell MX is dedicated to providing COPD and heart disease patients with information about stem cell therapy at Angeles Health International, Mexicos largest private hospital network.

Stem Cell Therapy is a fast growing area of medical research. Research into how stem cells can cure a number of conditions has been extensive over the past 3 decades and here at Stem Cell MX we are proud to be at the forefront of breakthrough discoveries and treatments. We dedicate ourselves to providing you with information about Stem Cells and what they can do for you.

At Stem Cell MX we can use Stem Cell therapy to treat 11 core treatable conditions including chronic obstructive pulmonary disease (COPD), heart conditions and joint conditions, such as osteoarthritis. We use two types of stem cell programs; autologous, meaning that we use your own stem cells, and allogeneic, where we use donated adult stem cells from one of the best labs in the world.

Stem cell research has had bad press over the years due to the misconception that Stem Cells can only come from embryos. This isnt true. Here at Stem Cell MX we only use Adult Stem Cells which have been harvested from either the donor or the patients themselves.

If you want to find out more about stem cell therapy with no obligation then contact us today. Our stem cell clinical trials are based on thirty years of research and clinical experience conducted by leading researchers and clinicians in Europe and the United States.

To find out the basics about stem cells read An Introduction to Stem Cells

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Stem Cell Therapy in Mexico

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Sex-Linked Traits in Bird Genetics

Understanding the ZZ/ZW sex chromosome system is important for people who breed birds, whether the interest is in chicken genetics, parrot genetics, or some other type of bird. The way sex-linked traits are inherited is opposite to the way they are inherited by humans and other mammals.

For example, in cockatiels, budgerigars (parakeets), lovebirds, and other small parrots, the lutino color mutation is a sex-linked recessive trait. Lutino birds lack the dark pigment melanin, which is responsible for black, gray, and blue coloration in birds. As a result, lutino birds appear to have significant yellow coloration, which would ordinarily be covered up by melanin.

The lutino gene is located on the Z chromosome. Since lutino females have only one Z chromosome, they will pass this chromosome down to all their sons (remember male birds are ZZ), but not to their daughters (female birds are ZW and get the Z chromosome from their fathers).

A male bird will be lutino only if his father has the gene and his mother has the mutation as well. With a non-lutino mother, a male that inherits lutino from his father will be a heterozygous carrier, but will not have a lutino phenotype. A lutino-colored male must be homozygous, since the trait is recessive. In this situation all his daughters will be lutino-colored and all his sons will be carriers.

For a non-lutino carrier male (heterozygous), each daughter has a 50% chance of being lutino, and each son has a 50% chance of being a carrier.

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Difference Between Male and Female BirdsGenetics and ...

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Androgenic alopecia (also known as androgenetic alopecia, alopecia androgenetica, or male pattern baldness) is hair loss that occurs due to an underlying susceptibility of hair follicles to androgenic miniaturization. It is the most common cause of hair loss and will affect up to 70% of men and 40% of women at some point in their lifetimes. Men typically present with hairline recession at the temples and vertex balding, while women normally thin diffusely over the top of their scalps.[1][2][3] Both genetic and environmental factors play a role, and many etiologies remain unknown.

Classic androgenic hair loss in males begins above the temples and vertex, or calvaria, of the scalp. As it progresses, a rim of hair at the sides and rear of the head remains. This has been referred to as a 'Hippocratic wreath', and rarely progresses to complete baldness.[4] The Hamilton-Norwood scale has been developed to grade androgenic alopecia in males.

Female androgenic alopecia is known colloquially as "female pattern baldness", although its characteristics can also occur in males. It more often causes diffuse thinning without hairline recession; and, like its male counterpart, rarely leads to total hair loss.[5] The Ludwig scale grades severity of androgenic alopecia in females.

Animal models of androgenic alopecia occur naturally and have been developed in transgenic mice;[6]chimpanzees (Pan troglodytes); bald uakaris (Cacajao rubicundus); and stump-tailed macaques (Macaca speciosa and M. arctoides). Of these, macaques have demonstrated the greatest incidence and most prominent degrees of hair loss.[7][8]

Research indicates that the initial programming of pilosebaceous units begins in utero.[9] The physiology is primarily androgenic, with dihydrotestosterone (DHT) the major contributor at the dermal papillae. Below-normal values of sex hormone-binding globulin , follicle-stimulating hormone , testosterone, and epitestosterone are present in men with premature androgenic alopecia compared to normal controls.[10] Although follicles were previously thought permanently gone in areas of complete hair loss, they are more likely dormant, as recent studies have shown the scalp contains the stem cell progenitors from which the follicles arose.[11]

Transgenic studies have shown that growth and dormancy of hair follicles are related to the activity of insulin-like growth factor at the dermal papillae, which is affected by DHT.[12]Androgens are important in male sexual development around birth and at puberty. They regulate sebaceous glands, apocrine hair growth, and libido. With increasing age,[13] androgens stimulate hair growth on the face, but suppress it at the temples and scalp vertex, a condition that has been referred to as the 'androgen paradox'.[14]

These observations have led to study at the level of the mesenchymal dermal papillae.[15][16]Types 1 and 2 5 reductase enzymes are present at pilosebaceous units in papillae of individual hair follicles.[17] They catalyze formation of the androgens testosterone and DHT, which in turn regulate hair growth.[14] Androgens have different effects at different follicles: they stimulate IGF-1 at facial hair, leading to growth, but stimulate TGF 1, TGF 2, dickkopf1, and IL-6 at the scalp, leading to catagenic miniaturization.[14] Hair follicles in anaphase express four different caspases. Tumor necrosis factor inhibits elongation of hair follicles in vitro with abnormal morphology and cell death in the bulb matrix.[18]

Studies of serum levels of IGF-1 show it to be increased with vertex balding.[19][20] Earlier work looking at in vitro administration of IGF had no effect on hair follicles when insulin was present, but when absent, caused follicle growth. The effects on hair of IGF-I were found to be greater than IGF-II.[21] Later work also showed IGF-1 signalling controls the hair growth cycle and differentiation of hair shafts,[12] possibly having an anti-apoptotic effect during the catagen phase.[22]In situ hybridization in adult human skin has shown morphogenic and mitogenic actions of IGF-1.[23] Mutations of the gene encoding IGF-1 result in shortened and morphologically bizarre hair growth and alopecia.[24] IGF-1 is modulated by IGF binding protein, which is produced in the dermal papilla.[25]

DHT inhibits IGF-1 at the dermal papillae.[26] Extracellular histones inhibit hair shaft elongation and promote regression of hair follicles by decreasing IGF and alkaline phosphatase in transgenic mice.[27] Silencing P-cadherin, a hair follicle protein at adherens junctions, decreases IGF-1, and increases TGF beta 2, although neutralizing TGF decreased catagenesis caused by loss of cadherin, suggesting additional molecular targets for therapy. P-cadherin mutants have short, sparse hair.[28]

At the occipital scalp, androgens enhance inducible nitric oxide synthase (iNOS), which catalyzes production of nitric oxide from L-arginine.[14] The induction of iNOS usually occurs in an oxidative environment, where the high levels of nitric oxide produced interact with superoxide, leading to peroxynitrite formation and cell toxicity. iNOS has been suggested to play a role in host immunity by participating in antimicrobial and antitumor activities as part of the oxidative burst[29] of macrophages.[30] The gene coding for nitric oxide synthase is on human chromosome 17.[31]

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Androgenic alopecia - Wikipedia, the free encyclopedia

Recommendation and review posted by Bethany Smith

Key Messages: Genetic counselors are specially trained to advise you and your family on identifying and managing inherited cancer risk. Information about your familys cancer history can help your genetic counselor guide you more effectively. A genetic counselor can work with you and your doctor to coordinate genetic testing and explain the results. Resources are available to help you find a genetic counselor in your area.

Genetic counseling for cancer involves having a trained genetic counselor help you and your family understand your inherited cancer risk. Inherited cancer risk may be passed from parent to child. The genetic counselor explains available genetic tests. He or she can also offer information about cancer screening, prevention, and treatment options and provide support.

A genetic counselor is a health professional with specialized training in medical genetics and counseling. Most genetic counselors have a Master's degree in genetic counseling. Some have degrees in related fields, such as nursing or social work. Genetic counselors are certified through the American Board of Genetic Counseling. They are often licensed by their state. Like other health professionals, they must participate in continuing education to maintain their certification.

Genetic counselors are trained to advise you about:

You can get more about of your genetic counseling appointment if you have more information about your familys cancer history. Helpful information that may be requested by the genetic counselor includes:

Although having this information is very helpful, it is not necessary. You should not avoid genetic counseling just because you do not know a lot about your family history.

When going to the appointment, consider taking someone with you. This may or may not be a family member, depending on your preference. The genetic counselor will discuss a lot of information. Another person can help you listen and think of questions. If you choose to bring a family member, that person may also be able to provide information about your family history.

The following topics will be covered during your appointment with a genetic counselor:

Your genetic counselor will typically write a summary of your appointment. Usually, a copy of this report will go to you and to the doctor who referred you to the genetic counselor. Your genetic counselor may also provide you with written information relevant to your family history. In some situations, you or other family members may qualify for research or screening studies. Your genetic counselor can provide you with information about those studies and help you make the necessary arrangements.

If you choose genetic testing, your counselor can help you coordinate the details, including working with the testing laboratory to find out if insurance pays for the costs of the test. When the test results are available, your counselor can review them with you and help you understand them.

Read this article:

What to Expect When Meeting With a Genetic Counselor ...

Recommendation and review posted by sam

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This complex process can be separated into diagnostic (the actual estimation of risk) and supportive aspects.[1]

The National Society of Genetic Counselors (NSGC) officially defines genetic counseling as the understanding and adaptation to the medical, psychological and familial implications of genetic contributions to disease.[2] This process integrates:

A genetic counselor is an expert with a Master of Science degree in genetic counseling. In the United States they are certified by the American Board of Genetic Counseling.[1] In Canada, genetic counselors are certified by the Canadian Association of Genetic Counsellors. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.[citation needed] Genetic counselors should be expert educators, skilled in translating the complex language of genomic medicine into terms that are easy to understand.

Genetic counselors work as members of a health care team and act as a patient advocate as well as a genetic resource to physicians. Genetic counselors provide information and support to families who have members with birth defects or genetic disorders, and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problems present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and review available genetic testing options with the family.

Genetic counselors are present at high risk or specialty prenatal clinics that offer prenatal diagnosis, pediatric care centers, and adult genetic centers. Genetic counseling can occur before conception (i.e. when one or two of the parents are carriers of a certain trait) through to adulthood (for adult onset genetic conditions, such as Huntington's disease or hereditary cancer syndromes).

Any person may seek out genetic counseling for a condition they may have inherited from their biological parents.

A woman, if pregnant, may be referred for genetic counseling if a risk is discovered through prenatal testing (screening or diagnosis). Some clients are notified of having a higher individual risk for chromosomal abnormalities or birth defects. Testing enables women and couples to make a decision as to whether or not to continue with their pregnancy, and helps provide information that can be used to prepare for the birth of a child with medical issues.

A person may also undergo genetic counseling after the birth of a child with a genetic condition. In these instances, the genetic counselor explains the condition to the patient along with recurrence risks in future children. In all cases of a positive family history for a condition, the genetic counselor can evaluate risks, recurrence and explain the condition itself.

The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options, and explain the risks and benefits of testing.[3] Counseling sessions focus on giving vital, unbiased information and non-directive assistance in the patient's decision making process. Seymour Kessler, in 1979, first categorized sessions in five phases: an intake phase, an initial contact phase, the encounter phase, the summary phase, and a follow-up phase.[4] The intake and follow-up phases occur outside of the actual counseling session. The initial contact phase is when the counselor and families meet and build rapport. The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests. The summary phase provides all the options and decisions available for the next step. If counselees wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results.

Families or individuals may choose to attend counseling or undergo prenatal testing for a number of reasons.[5]

Read more here:

Genetic counseling - Wikipedia, the free encyclopedia

Recommendation and review posted by sam

If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, screening tests, and family history tracking each helps to assess the health of you and your baby, and to predict any potential health risks.

You may also have the option of genetic testing. These tests identify the likelihood of passing certain genetic diseases or disorders (those caused by a defect in the genes the tiny, DNA-containing units of heredity that determine the characteristics and functioning of the entire body) to your children.

Some of the more familiar genetic disorders are:

If your history suggests that genetic testing would be helpful, you may be referred to a genetic counselor. Or, you might decide to seek out genetic counseling yourself.

But what do genetic counselors do, and how can they help your family?

Genetic counseling is the process of:

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.

Genes are made up of DNA molecules, which are the building blocks of heredity. They're grouped together in specific patterns within a person's chromosomes, forming the unique "blueprint" for every physical and biological characteristic of that person.

Humans have 46 chromosomes, arranged in pairs in every living cell of our bodies. When the egg and sperm join at conception, half of each chromosomal pair is inherited from each parent. This newly formed combination of chromosomes then copies itself again and again during fetal growth and development, passing identical genetic information to each new cell in the growing fetus.

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Genetic Counseling - KidsHealth

Recommendation and review posted by sam