Archaeology and genetics of the first Americans – Video
Archaeology and genetics of the first Americans
By: John Hawks
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Archaeology and genetics of the first Americans - Video
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CEHD – Genetics and Economic Interaction by Pietro Biroli – Video
CEHD - Genetics and Economic Interaction by Pietro Biroli
Speaker(s): Pietro Biroli As part of the launch of the Center for the Economics of Human Development, Pietro Biroli, Senior Research Assistant at CEHD and a ...
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CEHD - Genetics and Economic Interaction by Pietro Biroli - Video
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The Sims 4 – Building a family with the new genetics tool – Video
The Sims 4 - Building a family with the new genetics tool
http://www.alalasims.com http://www.alalasims.com/forum http://www.alalasims.com/downloads.
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IGN: Building A Family With The Sims 4’s New Genetics Tool [legendado PT-BR] – Video
IGN: Building A Family With The Sims 4 #39;s New Genetics Tool [legendado PT-BR]
TODOS OS DIREITOS RESERVADOS A IGN (http://goo.gl/If2hfr) E ELECTRONIC ARTS. Uma verso legendada do vdeo da IGN sobre The Sims 4 que mostra a gentica no jogo. Participao de Graham...
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IGN: Building A Family With The Sims 4's New Genetics Tool [legendado PT-BR] - Video
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Maera Minecraft – Advanced Genetics – Avsnitt 9 del 2 [Svenska] – Video
Maera Minecraft - Advanced Genetics - Avsnitt 9 del 2 [Svenska]
Ny ssong med ett eget modpack. Denna gng utspelar sig ventyret fortfarande p Valpskotts server Maera. Vlkomna! Feed the Beast p svenska Minecraft...
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Scripps Research Institute Scientists Find Potential New Use for Cancer Drug in Gene Therapy for Blood Disorders
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Newswise LA JOLLA, CA June 26, 2014 Scientists working to make gene therapy a reality have solved a major hurdle: how to bypass a blood stem cells natural defenses and efficiently insert disease-fighting genes into the cells genome.
In a new study led by Associate Professor Bruce Torbett at The Scripps Research Institute (TSRI), a team of researchers report that the drug rapamycin, which is commonly used to slow cancer growth and prevent organ rejection, enables delivery of a therapeutic dose of genes to blood stem cells while preserving stem cell function.
These findings, published recently online ahead of print by the journal Blood, could lead to more effective and affordable long-term treatments for blood cell disorders in which mutations in the DNA cause abnormal cell functions, such as in leukemia and sickle cell anemia.
Improving Gene Delivery to Blood Stem Cells
Viruses infect the body by inserting their own genetic material into human cells. In gene therapy, however, scientists have developed gutted viruses, such as the human immunodeficiency virus (HIV), to produce what are called viral vectors. Viral vectors carry therapeutic genes into cells without causing viral disease. Torbett and other scientists have shown that HIV vectors can deliver genes to blood stem cells.
For a disease such as leukemia or leukodystrophy, where mutations in the DNA cause abnormal cell function, efficiently targeting the stem cells that produce these blood cells could be a successful approach to halting the disease and prompting the body to produce healthy blood cells.
If you produce a genetic modification in your blood stem cells when you are five years old, these changes are lifelong, said Torbett. Furthermore, the gene-modified stem cells can develop into many types of cells that travel throughout the body to provide therapeutic effects.
However, because cells have adapted defense mechanisms to overcome disease-causing viruses, engineered viral vectors can be prevented from efficiently delivering genes. Torbett said that when scientists extract blood stem cells from the body for gene therapy, HIV viral vectors are usually able to deliver genes to only 30 to 40 percent of them. For leukemia, leukodystrophy or genetic diseases where treatment requires a reasonable number of healthy cells coming from stem cells, this number may be too low for therapeutic purposes.
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Scripps Research Institute Scientists Find Potential New Use for Cancer Drug in Gene Therapy for Blood Disorders
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Spinal Cord Injury – L1 Burst Fracture – Drop Foot – Kicking a Football – Video
Spinal Cord Injury - L1 Burst Fracture - Drop Foot - Kicking a Football
10 months since my accident, and first time wearing my boots again. Still struggling with weak leg muscles, including severe drop foot (right foot). I also have not medial or lateral support,...
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Spinal Cord Injury - L1 Burst Fracture - Drop Foot - Kicking a Football - Video
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Veronica’s two year Spinal Cord Injury Journey – Video
Veronica #39;s two year Spinal Cord Injury Journey
Hey guys - June 22 2012 I became a paraplegic from a Spinal Cord Injury. Check out the video to find out the story and leave comments or questions. Thanks fo...
By: Veronica Cardona
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Spinal Cord Injury- Save your shoulder, door opening technique – Video
Spinal Cord Injury- Save your shoulder, door opening technique
I created this video with the YouTube Video Editor (http://www.youtube.com/editor)
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Spinal Cord Injury Recovery Is Possible – Video
Spinal Cord Injury Recovery Is Possible
We believe Paralysis Permanent. It IS possible to regain movement, mobility and function after becoming paralyzed, even after spinal cord injury or damage like paraplegic or tetraplegia....
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Exoskeletal-Assisted Walking for Spinal Cord Injury (AA2014) – Video
Exoskeletal-Assisted Walking for Spinal Cord Injury (AA2014)
Ann Spungen, MD, discusses her course, Exoskeletal-Assisted Walking for Spinal Cord Injury, which will be presented at the AAPM R 2014 Annual Assembly on Fri...
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SNNLive – Alliance for Regenerative Medicine – Video
SNNLive - Alliance for Regenerative Medicine
SNNLive spoke with Michael Werner, Executive Director for the Alliance of Regenerative Medicine at the BioPharm America Conference 2011 in Boston, MA. For more information: http://alliancerm.org/
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Designer T cells fight viruses after transplants
WASHINGTON (AP) Bone marrow transplants save thousands of lives but patients are vulnerable to severe viral infections in the months afterward, until their new immune system kicks in. Now scientists are developing protection for that risky period injections of cells specially designed to fend off up to five different viruses at once.
"These viruses are a huge problem, and there's a huge need for these products," said Dr. Ann Leen, who leads a team at Baylor College of Medicine and Texas Children's Hospital that found an easier way to produce these long-desired designer T cells.
Healthy people have an army of T cells that roams the body, primed to recognize and fight viruses. People with suppressed immune systems such as those undergoing a bone marrow transplant to treat leukemia or other diseases lack that protection. It can take anywhere from four months to more than a year for marrow stem cells from a healthy donor to take root and start producing new immune cells for the recipient. When patients get sick before then, today's antiviral medications don't always work and cause lots of side effects.
The proposed solution: Take certain virus-fighting T cells from that same bone marrow donor, and freeze them to use if the recipient gets sick. Years of experiments show it can work. But turning the idea into an easy-to-use treatment has been difficult. A dose had to be customized to each donor-recipient pair and protected against only one or two viruses. And it took as long as three months to make.
Wednesday, Leen reported a novel technique to rapidly manufacture so-called virus-specific T cells that can target up to five of the viruses that cause the most trouble for transplant patients: Epstein-Barr virus, adenovirus, cytomegalovirus, BK virus, and human herpesvirus 6.
Essentially, Leen came up with a recipe to stimulate donated T cells in the laboratory so that they better recognize those particular viruses, and then grow large quantities of the cells. It took just 10 days to create and freeze the designer T cells.
To see if they worked, Leen's team treated 11 transplant recipients. Eight had active infections, most with multiple viruses. The cell therapy proved more than 90 percent effective, nearly eliminating all the viruses from the blood of all the patients, Leen reported in the journal Science Translational Medicine.
The other three patients weren't sick but were deemed at high risk. They were given early doses of the T cells protectively and remained infection-free, Leen said.
Next, her team is beginning a bigger step to try creating a bank of those cells from a variety of healthy donors that any patient could use, without having to custom-brew each dose.
It would take large studies to prove such a system really works.
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Designer T cells fight viruses after transplants
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stem cell therapy Egypt – Video
stem cell therapy Egypt
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stem cell therapy Egypt - Video
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Riverview woman recovers from stem cell transplant; family seeking notes of encouragement
By Jim Kasuba The News-Herald Twitter: @JKasuba
Elizabeth Disney (left) turned out to be a suitable blood stem donor for her sister, Brittany, who is afflicted with Burkitt lymphoma, considered to be an extremely rare disease for a young woman of only 23. Photo courtesy of Donna Smith
RIVERVIEW Battling a rare cancer has been a rough road for Brittany Disney, but the worst may be behind her.
The good news is that a suitable stem cell donor has been found and the transplant surgery went well. The not-so-good news is that theres a long recovery period and shes still in a lot of pain.
Donna Smith, a close friend of the family, said the young woman underwent stem cell replacement on June 6.
There was a one in four chance that a sibling would be a match, Smith said. (Her sister) Elizabeth had five out of six markers to be a stem cell donor for her.
Disney, 23, was diagnosed late last year with stage four Burkitt lymphoma, a form of non-Hodgkins lymphoma in which cancer starts in immune cells called B-cells. Recognized as the fastest growing human tumor, Burkitt lymphoma is associated with impaired immunity and is rapidly fatal if left untreated.
Burkitt lymphoma is so rare in young adult women that the Henry Ford Health System wrote about the case in a medical journal, said one of Disneys college friends.
In November, friends and family sponsored a spaghetti dinner fundraiser to assist the family with medical bills and expenses, but things continued to look bleak, as a stem cell transplant appeared to be the only answer to treating the condition.
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Fat of the bone: Exercise, diabetes affect amount of fat inside bones
In your bones, there is fat.
Why? Researchers don't know, but they have theories.
How does it get there? They have theories about that, too.
Is it the same sort of fat found in muscle? Not sure.
Is this bone fat a bad thing? Yes. Researchers think it is. But sometimes, they say, it might not be so bad.
"This is a new field," said Maya Styner, MD, an assistant professor of medicine in the University of North Carolina School of Medicine. "We don't know exactly how it's produced or why it's there to begin with. There are a lot of unanswered questions."
But Styner, an endocrinologist, has used a new kind of imaging technique to answer at least two: what do diabetes drugs and exercise -- or the lack of it -- do to bone fat, and why does this matter?
Stains and scans
Our bones are not stagnant, rock-like things. They change. Marrow -- the tissue inside bones -- is full of various kinds of cells. And marrow is also full of fat. The amounts of these cells and fats can decrease or increase over time. And the production of these marrow cells and fat depend on a specific type of progenitor cell called a mesenchymal stem cell.
"These stem cells give rise to both bone and fat," Styner said. "For a long time in the bone world, it's been thought that these stem cells produce bone but then, as we age, they start to produce fat, instead."
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Fat of the bone: Exercise, diabetes affect amount of fat inside bones
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Fat of the Bone
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Newswise In your bones, there is fat.
Why? Researchers dont know, but they have theories.
How does it get there? They have theories about that, too.
Is it the same sort of fat found in muscle? Not sure.
Is this bone fat a bad thing? Yes. Researchers think it is. But sometimes, they say, it might not be so bad.
This is a new field, said Maya Styner, MD, an assistant professor of medicine in the University of North Carolina School of Medicine. We dont know exactly how its produced or why its there to begin with. There are a lot of unanswered questions.
But Styner, an endocrinologist, has used a new kind of imaging technique to answer at least two: what do diabetes drugs and exercise or the lack of it do to bone fat, and why does this matter?
Stains and scans
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Fat of the Bone
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Stem cell transplantation for severe sclerosis associated with improved long-term survival
PUBLIC RELEASE DATE:
24-Jun-2014
Contact: Jacob M. van Laar j.m.vanlaar@umcutrecht.nl The JAMA Network Journals
Among patients with a severe, life-threatening type of sclerosis, treatment with hematopoietic stem cell transplantation (HSCT), compared to intravenous infusion of the chemotherapeutic drug cyclophosphamide, was associated with an increased treatment-related risk of death in the first year, but better long-term survival, according to a study in the June 25 issue of JAMA.
Systemic sclerosis is an autoimmune connective tissue disease characterized by vasculopathy (a disorder of the blood vessels), low-grade inflammation, and fibrosis (development of excess fibrous connective tissue) in skin and internal organs. Previously, small studies have shown that systemic sclerosis is responsive to treatment with autologous HSCT, although it has been unclear whether HSCT improves survival, according to background information in the article. For this study, autologous HSCT involved a multistep process beginning with infusion of high doses of cyclophosphamide and an antibody against immune cells, followed by reinfusion of the patient's own stem cells that had been previously collected from blood and purified.
Jacob M. van Laar, M.D., Ph.D., of the University Medical Center Utrecht, Utrecht, the Netherlands and Dominique Farge M.D., Ph.D, of the Assistance Publique - Hopitaux de Paris, Paris 7 Diderot University, France, and colleagues randomly assigned 156 patients with early diffuse cutaneous (widespread skin involvement) systemic sclerosis to receive HSCT (n = 79) or cyclophosphamide (n = 77; 12 monthly infusions). The phase 3 clinical trial was conducted in 10 countries at 29 centers; patients were recruited from March 2001 to October 2009 and followed up until October 2013.
During a median follow-up of 5.8 years, 53 adverse events occurred: 22 in the HSCT group (19 deaths and 3 irreversible organ failures) and 31 in the control group (23 deaths and 8 irreversible organ failures). Patients treated with HSCT experienced more adverse events (including death) in the first year but had better long-term event-free survival than those treated with cyclophosphamide.
Patients in the HCST group experienced higher mortality in the first year but had better long-term overall survival than those treated with cyclophosphamide. During year 1 there were 11 deaths (13.9 percent, including 8 treatment-related deaths) in the HSCT group vs 7 (9.1 percent, no treatment-related deaths) in the control group. After year 2 of follow-up, there were 12 deaths (15.2 percent) in the HSCT group vs 13 (16.9 percent) in the control group. After 4 years of follow-up, there were 13 deaths (16.5 percent) in the HSCT group vs 20 (26.0 percent) in the control group.
The authors add that HSCT was also more effective than intravenous cyclophosphamide on measures evaluating skin, functional ability, quality of life, and lung function, consistent with previous studies.
"Among patients with early diffuse cutaneous systemic sclerosis, HSCT was associated with increased treatment-related mortality in the first year after treatment. However, HCST conferred a significant long-term event-free survival benefit," the authors conclude.
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Stem cell transplantation for severe sclerosis associated with improved long-term survival
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Stem Cell Transplantation For Severe Sclerosis Linked With Improved Long-term Survival
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Newswise Among patients with a severe, life-threatening type of sclerosis, treatment with hematopoietic stem cell transplantation (HSCT), compared to intravenous infusion of the chemotherapeutic drug cyclophosphamide, was associated with an increased treatment-related risk of death in the first year, but better long-term survival, according to a study in the June 25 issue of JAMA.
Systemic sclerosis is an autoimmune connective tissue disease characterized by vasculopathy (a disorder of the blood vessels), low-grade inflammation, and fibrosis (development of excess fibrous connective tissue) in skin and internal organs. Previously, small studies have shown that systemic sclerosis is responsive to treatment with autologous HSCT, although it has been unclear whether HSCT improves survival, according to background information in the article. For this study, autologous HSCT involved a multistep process beginning with infusion of high doses of cyclophosphamide and an antibody against immune cells, followed by reinfusion of the patient's own stem cells that had been previously collected from blood and purified.
Jacob M. van Laar, M.D., Ph.D., of the University Medical Center Utrecht, Utrecht, the Netherlands and Dominique Farge M.D., Ph.D, of the Assistance Publique - Hopitaux de Paris, Paris 7 Diderot University, France, and colleagues randomly assigned 156 patients with early diffuse cutaneous (widespread skin involvement) systemic sclerosis to receive HSCT (n = 79) or cyclophosphamide (n = 77; 12 monthly infusions). The phase 3 clinical trial was conducted in 10 countries at 29 centers; patients were recruited from March 2001 to October 2009 and followed up until October 2013.
During a median follow-up of 5.8 years, 53 adverse events occurred: 22 in the HSCT group (19 deaths and 3 irreversible organ failures) and 31 in the control group (23 deaths and 8 irreversible organ failures). Patients treated with HSCT experienced more adverse events (including death) in the first year but had better long-term event-free survival than those treated with cyclophosphamide.
Patients in the HCST group experienced higher mortality in the first year but had better long-term overall survival than those treated with cyclophosphamide. During year 1 there were 11 deaths (13.9 percent, including 8 treatment-related deaths) in the HSCT group vs 7 (9.1 percent, no treatment-related deaths) in the control group. After year 2 of follow-up, there were 12 deaths (15.2 percent) in the HSCT group vs 13 (16.9 percent) in the control group. After 4 years of follow-up, there were 13 deaths (16.5 percent) in the HSCT group vs 20 (26.0 percent) in the control group.
The authors add that HSCT was also more effective than intravenous cyclophosphamide on measures evaluating skin, functional ability, quality of life, and lung function, consistent with previous studies.
Among patients with early diffuse cutaneous systemic sclerosis, HSCT was associated with increased treatment-related mortality in the first year after treatment. However, HCST conferred a significant long-term event-free survival benefit, the authors conclude. (doi:10.1001/jama.2014.6368; Available pre-embargo to the media at http://media.jamanetwork.com)
Editors Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.
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Stem Cell Transplantation For Severe Sclerosis Linked With Improved Long-term Survival
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Dr. Ruth Roberts – Stem Cell Therapy For Pets – Video
Dr. Ruth Roberts - Stem Cell Therapy For Pets
Dr. Ruth Roberts visits Lowcountry Live! to discuss the benefits of Stem Cell Therapy for pets.
By: Ruth Roberts
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Dr. Ruth Roberts - Stem Cell Therapy For Pets - Video
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Cancer Cell Therapy Market to Follow Upward Trend Till 2018, States Kuick Research in Its New Report Available at …
London, UK (PRWEB) June 24, 2014
Over the past 5 years, the world cancer cell therapy market witnessed strong growth. Furthermore, this market is expected to keep on following an upward trend in the years ahead, driven by the increasing cancer incidence worldwide, rising adoption of novel drugs, high unmet needs along with the continuously enhancing popularity of cell therapy in the sphere of cancer treatment. A number of technologies and products for cancer treatment based on cell-therapies, which are currently in the R&D pipeline, are predicted to enter the market in the next five years. At present, the US holds the lions share of the world cancer cell therapy market. Nevertheless, the markets future growth globally is likely to be spurred by the developing countries, where the incidence rates of cancer are very high.
Adaptimmune, Apceth, Argos Therapeutics, Celgene Cellular Therapeutics, Cellerant Therapeutics, Immunicum, Innate Pharma, Innocell Corporation, Kite Pharma and Takara Bio are among the top companies operating in the worldwide cancer cell therapy market.
New research report Cancer Cell Therapy Market & Pipeline Insight elaborated by Kuick Research is now available at MarketPublishers.com.
Report Details:
Title: Cancer Cell Therapy Market & Pipeline Insight Published: June, 2013 Pages: 195 Price:US$ 2,400.00 http://marketpublishers.com/report/diagnostics-diseases/cancer/cancer-cell-therapy-market-pipeline-insight.html
The research report presents a comprehensive guide to the world cancer cell therapy market as well as provides a detailed analysis of the overall market dynamics. The study offers an all-round assessment of the cancer cell therapy pipeline on the basis of country, phase and target indications; contains an extensive overview of the cancer cell therapy drugs, and sheds light on the drugs at the preclinical stage as well as discounted and suspended drugs. An all-round review of the key threats and opportunities emerging in the overall market, a thorough discussion of the most significant industry related aspects, detailed profiles of the dominant market participants, an evaluation of the top market growth prospects, as well as an extensive cancer cell therapy pipeline analysis can be found in the report.
Report Scope:
More new research reports by the publisher can be found at Kuick Research page.
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Cancer Cell Therapy Market to Follow Upward Trend Till 2018, States Kuick Research in Its New Report Available at ...
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Stem cell mobilization therapy may effectively treat osteoarthritis
PUBLIC RELEASE DATE:
19-Jun-2014
Contact: Robert Miranda cogcomm@aol.com Cell Transplantation Center of Excellence for Aging and Brain Repair
Putnam Valley, NY. (June 19, 2014) Researchers in Taiwan have found that peripheral blood stem cells "mobilized" by a special preparation of granulocyte colony-stimulating factor (G-CSF) prior to their injection into rats modeling osteoarthritis (OA), stimulated the bone marrow to produce stem cells, leading to the inhibition of OA progression. The finding, they said, may lead to a more effective therapy for OA, a common joint disease that affects 10 percent of Americans over the age of 60.
The study will be published in a future issue of Cell Transplantation and is currently freely available on-line as an unedited early e-pub at: http://www.ingentaconnect.com/content/cog/ct/pre-prints/content-ct1109Deng.
"Currently, OA treatment involves the use of anti-inflammatory drugs, analgesics, lubricating supplements, or surgery," said study lead author Dr. Shih-Chieh Hung of the Department of Medical Research and Education at the Taipei Veterans general Hospital in Taiwan. "Recently, hematopoietic (blood) stem cells derived from bone marrow have emerged as a potential treatment for OA. We hypothesized that G-CSF-mobilized peripheral blood stem cells (gm-PBSCs) contain a population of primitive stem cells that have the capacity for mobility once released from stem cell niches."
While the beneficial effects of G-CSF-mobilized peripheral blood stem cells have been documented when used for treating the negative effects of chemotherapy and radiation, as well as peripheral arterial diseases, this is the first study to investigate the use of gm-PBSCs to treat skeletal diseases, such as OA.
"We demonstrated that PBSCs, mobilized by G-CSF and infused for five days in rats modelling OA, provided a number of beneficial results, including increasing cluster of differentiation 34 positive (CD34+) cell percentages up to 55 fold," reported the authors. "Further, we demonstrated that the progression of OA was inhibited by the gm-PBSCs."
The researchers noted that the use of G-CSF administration in humans to treat other diseases and conditions has been found to be "safe and effective," despite known side effects such as bone pain, headache, fatigue, and nausea which, they added, are generally "transient, self-limiting and without long-term consequences."
"Although potential long-term adverse effects, such as malignancy after G-CSF administration have been reported, the frequency is low and the relationship between major adverse effects and G-CSF administration is not clear," said Dr. Hung.
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Stem cell mobilization therapy may effectively treat osteoarthritis
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Gene in brain linked to kidney cancer, researchers say
A gene known to control brain growth and development is heavily involved in promoting clear cell renal cell carcinoma, the most common form of kidney cancer, researchers from Mayo Clinic in Florida are reporting.
Their study, published in Cancer Research, reveals that the gene NPTX2, plays an essential role in this cancer type, which is resistant to common chemotherapy and has a five-year overall survival rate of less than 10 percent in patients with metastatic disease.
The study not only shows that NPTX2 is active in kidney cancer, but is the first to reveal that the gene is over-expressed in any human cancer. The researchers are now looking whether NPTX2 may act in other cancers.
"We found that a gene known to play a role in the healthy brain is also the No. 1 gene associated with this most lethal of all urological cancers," says the study's senior investigator and molecular biologist John A. Copland, Ph.D.
"We don't know why NPTX2 is expressed in kidney cancer, but we now know what it is doing and how it contributes to cancer progression," he says. "We also have very promising ideas about how to attack the NPTX2 protein -- which may provide a much-needed new strategy to treat this kidney cancer."
Because the NPTX2 gene is not expressed in normal kidney tissue, a drug designed to target its protein would provide a highly focused treatment, Dr. Copland says. The team is working on several different approaches to an NPTX2 inhibitor.
Lead author Christina von Roemeling, a graduate student at Mayo Clinic in Florida, used genomic profiling of nearly 100 kidney cancer patient samples to identify genes that were either over-expressed or under-expressed as compared to patient matched normal kidney tissue samples. Von Roemeling and the research team then individually silenced each of the top 200 altered genes to see the effect on tumor growth. They found 31 genes were important to growth of the cancer or its ability to survive, and from this group they determined NPTX2 was a key gene to cancer viability.
Co-author Derek Radisky, Ph.D., a cancer biologist, then searched for prevalence of the NPTX2 gene in kidney cancer using nine public genomic datasets, representing thousands of patients, and found it to be the top aberrantly expressed gene associated with this cancer.
"Nobody ever looked for NPTX2 as a potential tumor promoter in kidney cancer or any other cancer, from what we can tell," says Dr. Radisky. "Before this study, the concept that it could even play a role in cancer had not been suspected."
The researchers also discovered that a receptor -- known as GluR4 -- that the NPTX2 protein usually targets in the brain is also found in the kidney cancer samples.
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Gene in brain linked to kidney cancer, researchers say
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Researchers find gene critical for development of brain motor center
PUBLIC RELEASE DATE:
20-Jun-2014
Contact: Paddy Moore padmoore@ohri.ca 613-737-8899 x73687 Ottawa Hospital Research Institute
Ottawa June 20, 2014 In a report published today in Nature Communications, an Ottawa-led team of researchers describe the role of a specific gene, called Snf2h, in the development of the cerebellum. Snf2h is required for the proper development of a healthy cerebellum, a master control centre in the brain for balance, fine motor control and complex physical movements.
Athletes and artists perform their extraordinary feats relying on the cerebellum. As well, the cerebellum is critical for the everyday tasks and activities that we perform, such as walking, eating and driving a car. By removing Snf2h, researchers found that the cerebellum was smaller than normal, and balance and refined movements were compromised.
Led by Dr. David Picketts, a senior scientist at the Ottawa Hospital Research Institute and professor in the Faculty of Medicine at the University of Ottawa, the team describes the Snf2h gene, which is found in our brain's neural stem cells and functions as a master regulator. When they removed this gene early on in a mouse's development, its cerebellum only grew to one-third the normal size. It also had difficulty walking, balancing and coordinating its movements, something called cerebellar ataxia that is a component of many neurodegenerative diseases.
"As these cerebellar stem cells divide, on their journey toward becoming specialized neurons, this master gene is responsible for deciding which genes are turned on and which genes are packed tightly away," said Dr. Picketts. "Without Snf2h there to keep things organized, genes that should be packed away are left turned on, while other genes are not properly activated. This disorganization within the cell's nucleus results in a neuron that doesn't perform very welllike a car running on five cylinders instead of six."
The cerebellum contains roughly half the neurons found in the brain. It also develops in response to external stimuli. So, as we practice tasks, certain genes or groups of genes are turned on and off, which strengthens these circuits and helps to stabilize or perfect the task being undertaken. The researchers found that the Snf2h gene orchestrates this complex and ongoing process. These master genes, which adapt to external cues to adjust the genes they turn on and off, are known as epigenetic regulators.
"These epigenetic regulators are known to affect memory, behaviour and learning," said Dr. Picketts. "Without Snf2h, not enough cerebellar neurons are produced, and the ones that are produced do not respond and adapt as well to external signals. They also show a progressively disorganized gene expression profile that results in cerebellar ataxia and the premature death of the animal."
There are no studies showing a direct link between Snf2h mutations and diseases with cerebellar ataxia, but Dr. Picketts added that it "is certainly possible and an interesting avenue to explore."
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Researchers find gene critical for development of brain motor center
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Mayo Clinic researchers say gene in brain linked to kidney cancer
PUBLIC RELEASE DATE:
24-Jun-2014
Contact: Kevin Punsky punsky.kevin@mayo.edu 904-953-0746 Mayo Clinic
JACKSONVILLE, Fla. A gene known to control brain growth and development is heavily involved in promoting clear cell renal cell carcinoma, the most common form of kidney cancer, researchers from Mayo Clinic in Florida are reporting.
Their study, published in Cancer Research, reveals that the gene NPTX2, plays an essential role in this cancer type, which is resistant to common chemotherapy and has a five-year overall survival rate of less than 10 percent in patients with metastatic disease.
MULTIMEDIA ALERT: Video and audio are available for download on the Mayo Clinic News Network.
The study not only shows that NPTX2 is active in kidney cancer, but is the first to reveal that the gene is over-expressed in any human cancer. The researchers are now looking whether NPTX2 may act in other cancers.
"We found that a gene known to play a role in the healthy brain is also the No. 1 gene associated with this most lethal of all urological cancers," says the study's senior investigator and molecular biologist John A. Copland, Ph.D.
"We don't know why NPTX2 is expressed in kidney cancer, but we now know what it is doing and how it contributes to cancer progression," he says. "We also have very promising ideas about how to attack the NPTX2 protein which may provide a much-needed new strategy to treat this kidney cancer."
Because the NPTX2 gene is not expressed in normal kidney tissue, a drug designed to target its protein would provide a highly focused treatment, Dr. Copland says. The team is working on several different approaches to an NPTX2 inhibitor.
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Mayo Clinic researchers say gene in brain linked to kidney cancer
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