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	<title>medisyne.com</title>
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	<link>http://medisyne.com</link>
	<description>Latest Research and articles on Medical Syndromes...</description>
	<pubDate>Fri, 07 Aug 2009 08:30:21 +0000</pubDate>
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		<title>Free Dental Implants</title>
		<link>http://medisyne.com/health/free-dental-implants/</link>
		<comments>http://medisyne.com/health/free-dental-implants/#comments</comments>
		<pubDate>Fri, 07 Aug 2009 08:30:21 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[General Health]]></category>

		<guid isPermaLink="false">http://medisyne.com/?p=128</guid>
		<description><![CDATA[When shopping for dental impants, you may find that some dentists offer free dental impants. Read the fine print as the impants may be free, but the x-rays and rest of the procedure may not be.
Dental implants are prosthetic alternatives to the missing teeth and help restore the teeth functioning to normalcy. It is known [...]]]></description>
			<content:encoded><![CDATA[<p align="left">When shopping for dental impants, you may find that some dentists offer <a href="http://www.bracesreview.com/dental-implants-cost-free-dental-implant.html">free dental impants</a>. Read the fine print as the impants may be free, but the x-rays and rest of the procedure may not be.</p>
<p align="left">Dental implants are prosthetic alternatives to the missing teeth and help restore the teeth functioning to normalcy. It is known that the root of a tooth holds it and an accident or infection to the gum might result in tooth fall and an implant is an artificial replacement that can act as the root to hold tooth substitute. They are a permanent solution to the tooth loss problems.</p>
<p align="left">When shoping, the <a href="http://www.bracesreview.com/dental-implants-cost-free-dental-implant.html">costof dental implants</a> will vary from your dentists.   You may want to check your dental insurance coverage to see if it helps cover the procedure.</p>
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		<item>
		<title>Drug Addiction Treatment Centers</title>
		<link>http://medisyne.com/alcohol-dependence-syndrome/drug-addiction-treatment-centers/</link>
		<comments>http://medisyne.com/alcohol-dependence-syndrome/drug-addiction-treatment-centers/#comments</comments>
		<pubDate>Mon, 18 May 2009 09:13:10 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Alcohol Dependence Syndrome]]></category>

		<guid isPermaLink="false">http://medisyne.com/?p=125</guid>
		<description><![CDATA[Many different facets to drug and alcohol addiction and for reason drug treatment center utilize a variety of methods to treating these addictions. The major goal of drug dealing centers and programs is to give addicts with the tools essential to have creative and drug-free lives. Through the numerous steps of drug treatment programs, the [...]]]></description>
			<content:encoded><![CDATA[<p>Many different facets to drug and alcohol addiction and for reason <a href="http://www.addictiontreatmentcenter.com/">drug treatment center</a> utilize a variety of methods to treating these addictions. The major goal of drug dealing centers and programs is to give addicts with the tools essential to have creative and drug-free lives. Through the numerous steps of drug treatment programs, the addict must stay devoted to the healing and rehabilitative procedure.</p>
<p><a href="http://www.addictiontreatmentcenter.com/">Addiction treatment center</a> will give only what has been put to it. Seeing as drug addiction and alcoholism are chronic illness, decline is a predictable part of the revival process. This is great treatment centers try to compact with in arming addicts with skills to thwart relapse. No matter the excellence or cost of the treatment center, avoidance of relapse cannot be assured.</p>
<p>Many addicts and alcoholics necessitate to undergone multiple stays in treatment centers before they achieve sobriety. Many people observe in their exploration for drug treatment centers, that a huge density of centers can be found in areas of the United States, most commonly, Florida, California, Texas, and Arizona. One if the major reason for this is for the reason that the large greater part of addicts, it is always best for them to look drug management in areas away from dangerous associates. </p>
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		<item>
		<title>Christine Laine: New Editor for Annals of Internal Medicine</title>
		<link>http://medisyne.com/announcement/christine-laine-new-editor-for-annals-of-internal-medicine/</link>
		<comments>http://medisyne.com/announcement/christine-laine-new-editor-for-annals-of-internal-medicine/#comments</comments>
		<pubDate>Fri, 01 May 2009 18:51:38 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Announcement]]></category>

		<category><![CDATA[acp]]></category>

		<category><![CDATA[american college of physicians]]></category>

		<category><![CDATA[annals of internal medicine]]></category>

		<category><![CDATA[christine laine]]></category>

		<category><![CDATA[editor]]></category>

		<category><![CDATA[new]]></category>

		<category><![CDATA[new editor]]></category>

		<guid isPermaLink="false">http://medisyne.com/?p=121</guid>
		<description><![CDATA[Jeffery P. Harris, MD, FACP, President of American College of Physicians (ACP) announced that Christine Laine, MD, MPH, FACP will be the Annals of Internal Medicine New Editor. Christine will manage the editorial staff at ACP Headquarters and succeeds senior deputy editor of annals, Harold C. Sox. Christine Laine is considered as the youngest editor [...]]]></description>
			<content:encoded><![CDATA[<p>Jeffery P. Harris, MD, FACP, President of American College of Physicians (ACP) announced that Christine Laine, MD, MPH, FACP will be the <a href="http://yourupdate.tv/healthandwellness/new_editor_annals_internal_medicine.html">Annals of Internal Medicine New Editor</a>. Christine will manage the editorial staff at ACP Headquarters and succeeds senior deputy editor of annals, Harold C. Sox. Christine Laine is considered as the youngest editor of Annals in its 82 years of history and she is expected to advance the journal with her perceived leadership qualities and hard work. Christine Laine admits that, she will put forth her skills in taking the journal to the next level as that of her predecessors and she even planned to make the journal an invaluable source for both the general internists and subspecialists.  </p>
<p>Christine Laine has written an ample number of articles on subjects such as HIV/AIDS care, Quality of care and one of her articles “The Annual Physical Examination: Needless Ritual or Necessary Routine?” is very famous and most cited in general press. Christine Laine feels very happy and proud to take-up the challenge as editor for Annals for Internal Medicine, one of the most popularly known medical journals in the world that is published by the American College of Physicians. Christine Laine has contributed a lot and she is a Clinical Associate Professor of Medicine at Jefferson Medical college. </p>
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		<item>
		<title>Health insurance quotes</title>
		<link>http://medisyne.com/uncategorized/health-insurance-quotes/</link>
		<comments>http://medisyne.com/uncategorized/health-insurance-quotes/#comments</comments>
		<pubDate>Sat, 04 Apr 2009 17:42:15 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Uncategorized]]></category>

		<guid isPermaLink="false">http://medisyne.com/?p=119</guid>
		<description><![CDATA[There are many things that money can’t buy, but we can prepare ourselves for a better alternative if we invest the money in something that can provide coverage for you in case of anything happened. 
Getting the right life insurance package is not just about saving money for your medical fees. You need to look [...]]]></description>
			<content:encoded><![CDATA[<p>There are many things that money can’t buy, but we can prepare ourselves for a better alternative if we invest the money in something that can provide coverage for you in case of anything happened. </p>
<p>Getting the right life insurance package is not just about saving money for your medical fees. You need to look further and notice that it affects the whole family because the money that you are using for medical fees might as well being spent on other things like entertainment and monthly mortgage payment </p>
<p>Getting health insurance quotes can help you to lead a life without being worried that you will fall sick and not able to attend work. </p>
<p>There are many sites to choose from and you should do your due diligence before deciding to commit on any of the health insurance package. </p>
<p>Ask for free <a href="http://www.gohealthinsurance.com/">health insurance quotes</a> from several sites for comparison purpose. Don’t settle for any health insurance just because it is cheap. You need to understand that it involves your future and might affect the decision that you will do later in life. </p>
<p>Read the details and find out what are the diseases that are being covered in the health insurance package so that you can decide whether it will be for individual or the entire family members. </p>
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		<item>
		<title>Ordering Contact Lenses Online Is Easy and Convenient</title>
		<link>http://medisyne.com/health/ordering-contact-lenses-online-is-easy-and-convenient/</link>
		<comments>http://medisyne.com/health/ordering-contact-lenses-online-is-easy-and-convenient/#comments</comments>
		<pubDate>Wed, 20 Aug 2008 21:07:40 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[General Health]]></category>

		<guid isPermaLink="false">http://medisyne.com/?p=118</guid>
		<description><![CDATA[While you may already be enjoying the freedom that comes with wearing contact lenses to correct your vision, you can enjoy even greater freedom and convenience by ordering your lenses from an online contact lens distributor. Online retailers such as CoastalContacts.com often offer quality lenses at discount prices so you can experience comfortable, safe and [...]]]></description>
			<content:encoded><![CDATA[<p>While you may already be enjoying the freedom that comes with wearing contact lenses to correct your vision, you can enjoy even greater freedom and convenience by ordering your lenses from an online contact lens distributor. Online retailers such as CoastalContacts.com often offer quality lenses at discount prices so you can experience comfortable, safe and sharp vision for the very best value. Ordering <a href="http://www.coastalcontacts.com/">contacts</a> online often comes with many other benefits as well, with retailers commonly offering several great perks and deals. Of course, one of the best aspects of ordering contact lenses online is the fact that it&#8217;s simply so easy and convenient.</p>
<p>When you purchase your contacts from an online contact lens retailer, you can place your order at any hour of the day or night. This means that you can order your lenses when it&#8217;s most convenient for you. On top of that, your contact lenses will then be delivered straight to your door so you don&#8217;t have to worry about going out anywhere to pick them up. Some online retailers even offer free shipping and manufacturer rebates so you can save even more money. Many people who try ordering their contacts online never turn back because of the high quality, low prices, great customer service and exceptional convenience that online contact lens distributors provide.</p>
<p>Since online retailers of <a href="http://www.coastalcontacts.com/">contact lenses</a> offer such great discounts and make the ordering process so easy, you may think that there&#8217;s a catch and that perhaps the quality won&#8217;t be up to the standard that you&#8217;re looking for. However, this isn&#8217;t the case. Many online retailers offer popular and highly respected brands of contact lenses as well as everything from daily disposable lenses to special effects lenses. As a result, by ordering your contact lenses online, you can enjoy excellent quality as well as outstanding convenience.</p>
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		<item>
		<title>Gene For Branchio-oculo-facial Syndrome Discovered</title>
		<link>http://medisyne.com/miscellaneous-syndromes/gene-for-branchio-oculo-facial-syndrome-discovered/</link>
		<comments>http://medisyne.com/miscellaneous-syndromes/gene-for-branchio-oculo-facial-syndrome-discovered/#comments</comments>
		<pubDate>Fri, 25 Apr 2008 17:44:52 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Miscellaneous Syndromes]]></category>

		<category><![CDATA[Branchio-Oculo-Facial syndrome]]></category>

		<guid isPermaLink="false">http://medisyne.com/miscellaneous-syndromes/gene-for-branchio-oculo-facial-syndrome-discovered/</guid>
		<description><![CDATA[In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).

This rare disorder is characterized by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, [...]]]></description>
			<content:encoded><![CDATA[<p>In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).<br />
<span id="more-117"></span><br />
This rare disorder is characterized by specific skin anomalies involving the neck and behind the ear, eye abnormalities, a typical facial appearance, and frequently cleft lip and palate.</p>
<p>Using the latest in molecular microarray technologies, the researchers examined one affected mother and son and two sporadic BOFS cases and found a small deletion on chromosome 6 in the mother and son. Sequencing of genes in this candidate region revealed missense mutations clustered in the basic region of the DNA-binding domain of the TFAP2A gene in 4 sporadic BOFS patients.</p>
<p>According to lead author Jeff Milunsky, MD, director of clinical genetics, associate director of the Center for Human Genetics, and an associate professor of pediatrics, genetics and genomics at BUSM, this discovery will lead to more precise diagnostic testing, enable prenatal diagnosis, suggest directions for new research, and facilitate genetic counseling in these families.</p>
<p>&#8220;This gene is a well-known transcription factor involved in multiple developmental pathways as well as tumorigenesis. An intriguing finding is that one of the affected patients with a mutation also has brain cancer, highlighting again the connection between malformations and cancer,&#8221; he added. Milunsky believes this discovery may have significant wide-ranging implications as this gene may also play a role in the more common isolated occurrence of cleft lip and palate.</p>
<p>The study currently appears on-line in the April 17th issue of the American Journal of Human Genetics. </p>
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		<item>
		<title>Leading Experts Investigate Shaken Baby Syndrome</title>
		<link>http://medisyne.com/miscellaneous-syndromes/leading-experts-investigate-shaken-baby-syndrome/</link>
		<comments>http://medisyne.com/miscellaneous-syndromes/leading-experts-investigate-shaken-baby-syndrome/#comments</comments>
		<pubDate>Mon, 14 Apr 2008 17:22:58 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Miscellaneous Syndromes]]></category>

		<category><![CDATA[Shaken Baby Syndrome]]></category>

		<guid isPermaLink="false">http://medisyne.com/miscellaneous-syndromes/leading-experts-investigate-shaken-baby-syndrome/</guid>
		<description><![CDATA[Shaken Baby Syndrome (SBS), also known as childhood neurotrauma or inflicted traumatic brain injury, is the leading cause of death from childhood maltreatment. Unlike many types of child abuse, the action that causes SBS is known, occurs quickly, and is, theoretically, largely preventable. An international symposium sponsored by the National Center on Shaken Baby Syndrome [...]]]></description>
			<content:encoded><![CDATA[<p>Shaken Baby Syndrome (SBS), also known as childhood neurotrauma or inflicted traumatic brain injury, is the leading cause of death from childhood maltreatment. Unlike many types of child abuse, the action that causes SBS is known, occurs quickly, and is, theoretically, largely preventable. An international symposium sponsored by the National Center on Shaken Baby Syndrome examined how to establish the incidence of inflicted traumatic brain injury in young children and explored issues of definitions, passive versus active surveillance, study designs, proxy measures, statistical issues and prevention. Key findings are published in a Special Supplement to the April 2008 issue of the American Journal of Preventive Medicine.<br />
<span id="more-116"></span><br />
SBS is a form of intentional injury to infants and children caused by violent shaking with or without associated contact with a hard surface. The mortality rate of victims of this intentional brain injury is about 25%, while survivors do very poorly. In a recent Canadian study, investigators found that after 10 years only 7% of the survivors were reported as &#8220;normal,&#8221; 12% were in a coma or vegetative state, 60% had a moderate or greater degree of disability and 85% would require ongoing multidisciplinary care for the rest of their lives.</p>
<p>Guest Editors Robert M. Reece, Desmond K. Runyan, and Ronald G. Barr and an international group of authors significantly contribute to the increasing visibility of violence against children in general and child maltreatment in particular. They state that although prevention has been a highly desired but elusive goal in the field of child abuse, the apparent potential for prevention of inflicted childhood neurotrauma in particular through universal educational initiatives, both in North America and potentially around the world, has contributed considerable urgency to the importance of addressing these challenges. The symposium participants who convened to address these measurement issues were very cognizant of these challenges.</p>
<p>Presentations addressed two main themes: (1) the adequacy of current and/or projected systems for measuring the incidence of shaken baby syndrome; and (2) a review of available strategies for evaluating the effectiveness of primary programs for its prevention in large jurisdictions.</p>
<p>Reece addressed the complex issue of nomenclature variants and how they might (or might not) be integrated. Runyan described the challenges and emerging evidence concerning rates of the caregiving risk behavior of shaking. Keenan, Minns and Trent described their experiences with active and passive surveillance systems. Bennett described the countrywide Canadian Pediatric Surveillance Program, and Ryan described the design and proposed use of the Department of Defense Birth and Infant Health Registry to measure inflicted childhood neurotrauma.</p>
<p>To assess strategies for evaluating the effectiveness of prevention programs in large jurisdictions, Rivara presented the strengths, weaknesses, and potential pitfalls of available designs applicable at a jurisdictional level, and Shapiro discussed whether case control designs used successfully in disease prevention research could be applied to SBS. Finally, Ellingson, Leventhal, and Weiss described comparative rates derived from retrospective passive surveillance data sets to those derived from prospective active surveillance studies, and Runyan, Berger and Barr provide an integrative proposal for the &#8220;ideal system&#8221; to measure inflicted neurotrauma incidence.</p>
<p>Writing in the supplement, Guest Editors Ronald G. Barr, University of British Columbia, Vancouver, and Child &#038; Family Research Institute, and Desmond K. Runyan, The University of North Caroline, Chapel Hill, state, &#8220;&#8230;it is apparent that there is a &#8216;bad news/good news&#8217; storyline emerging here. While the challenges to measuring inflicted injury are real and considerable, it is equally clear that considerable progress has been made and that reliable and valid measurement appears feasible and obtainable. Substantive work continues to be done toward providing reasonable measures that will be informative both about the nature and scope of inflicted neurotrauma in infants and about the possibility that prevention programs will be able to be demonstrated to be effective (or not) on the basis of empiric measurements. It is none too soon.&#8221;</p>
<p>These articles appear in a Special Supplement to the American Journal of Preventive Medicine, Volume 34, Issue 4 (April 2008), Supplement 1, published by Elsevier.</p>
<p>The Symposium was supported by the Doris Duke Charitable Foundation of New York and the Centers for Disease Control and Prevention (CDC). The Supplement was supported by the Division of Violence Prevention, National Center for Injury Prevention and Control (NCIPC) at the CDC, Atlanta.</p>
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		<title>Dry Eye Syndrome After LASIK Surgery</title>
		<link>http://medisyne.com/miscellaneous-syndromes/dry-eye-syndrome-after-lasik-surgery/</link>
		<comments>http://medisyne.com/miscellaneous-syndromes/dry-eye-syndrome-after-lasik-surgery/#comments</comments>
		<pubDate>Mon, 24 Mar 2008 17:32:13 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Miscellaneous Syndromes]]></category>

		<category><![CDATA[Dry Eye Syndrome]]></category>

		<category><![CDATA[LASIK]]></category>

		<category><![CDATA[LASIK Surgery]]></category>

		<guid isPermaLink="false">http://medisyne.com/miscellaneous-syndromes/dry-eye-syndrome-after-lasik-surgery/</guid>
		<description><![CDATA[People with a certain low level of tear production are more likely to develop chronic dry eye syndrome after LASIK (laser-assisted in situ keratomileusis), laser refractive surgery to correct near- and far-sightedness than those with more plentiful tears,a research at Schepens Eye Research Institute which was published in the January issue of Investigative Ophthalmology and [...]]]></description>
			<content:encoded><![CDATA[<p>People with a certain low level of tear production are more likely to develop chronic dry eye syndrome after LASIK (laser-assisted in situ keratomileusis), laser refractive surgery to correct near- and far-sightedness than those with more plentiful tears,a research at Schepens Eye Research Institute which was published in the January issue of Investigative Ophthalmology and Vision Science, may offer reliable prescreening criteria for ophthalmologists and patients.<br />
<span id="more-114"></span><br />
&#8220;These findings should help ophthalmologists determine if pretreatment is necessary before surgery or if surgery is appropriate at all for an individual,&#8221; says Dr. Darlene Dartt, director of the Military Vision Research Program at Schepens Eye Research Institute and the principal investigator of the study.</p>
<p>Dry eye syndrome is one of the most common problems treated by eye physicians. Affecting more than 10 million Americans, it is caused by problems with the tear film responsible for lubricating the eye. While it does not cause vision loss, dry eye syndrome can be painful and severely decrease quality of life for its victims who constantly search for relief with artificial tears and other medications.</p>
<p>LASIK surgery uses small laser cuts to reshape the surface of the cornea, eliminating far-sightedness or near-sightedness, and the need for glasses or contacts. Many people choose LASIK for cosmetic reasons. In recent years, thousands of military personnel have opted for LASIK surgery because it can help them see better and identify objects and people in the field more quickly. It also relieves them of the worry about lost or damaged glasses.</p>
<p>Usually, LASIK causes some dry eye syndrome directly after surgery, but the condition resolves within a few months. In a small number of cases, however, the dry eye condition following LASIK can become chronic and impact functioning of both civilian and military individuals for as long as nine months following surgery.</p>
<p>Dartt and her team were determined to find a way to prescreen for the chronic condition so that surgeons could prepare patients in advance with preventative artificial tears or opt against surgery for some patients.</p>
<p>Dartt and her team evaluated the eyes of 24 patients about to undergo LASIK at the Massachusetts Eye and Ear Infirmary. The patients were given a series of evaluations, including the Schirmer test with and without anesthesia, before and after surgery. Using a piece of paper on the corneal surface, the Schirmer test measures the amount of tears an eye is producing. Study subjects also filled out a dry eye questionnaire indicating their experience with dry eyes pre- and post-operatively.</p>
<p>The team discovered that if a patient had a presurgical tear production value greater than 20 mm of wetting of the Schrimer strip in 5 minutes, they were not likely to develop chronic dry eye syndrome. Patients who produced less tears were more likely to develop long-term dry eye syndrome.</p>
<p>According to Dartt, the next steps for her team include expanding this study to a larger number of individuals and examining patients who have the PRK (photorefractive keratectomy) type of refractive surgery. The PRK has the same goal as LASIK, but the procedures differ. In LASIK a flap of corneal epithelium is cut and lifted to allow the underlying stroma to be shaped by the laser. Then the flap is placed down on the eye. In PRK the corneal epithelium is mechanically removed to allow laser shaping of the stroma. The epithelium then grows back over several days. LASIK and PRK have different side effects.</p>
<p>Authors of the study included Keiko Konomi, Li-Li Chen,Rachel S. Tarko, Amy Scally, Debra A. Schaumberg, Dimitri Azar, and Darlene A. Dartt</p>
<p>Schepens Eye Research Institute is an affiliate of Harvard Medical School and the largest independent eye research institute in the nation.</p>
<p><strong>Source:</strong></p>
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		<title>&#8216;Jumping Gene&#8217; May Contribute To A Premature Aging Syndrome</title>
		<link>http://medisyne.com/miscellaneous-syndromes/jumping-gene-may-contribute-to-a-premature-aging-syndrome/</link>
		<comments>http://medisyne.com/miscellaneous-syndromes/jumping-gene-may-contribute-to-a-premature-aging-syndrome/#comments</comments>
		<pubDate>Mon, 24 Mar 2008 17:26:53 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Miscellaneous Syndromes]]></category>

		<category><![CDATA[Cockayne syndrome]]></category>

		<category><![CDATA[Jumping Gene]]></category>

		<category><![CDATA[Premature Aging Syndrome]]></category>

		<guid isPermaLink="false">http://medisyne.com/miscellaneous-syndromes/jumping-gene-may-contribute-to-a-premature-aging-syndrome/</guid>
		<description><![CDATA[Scientists have identified a fusion protein that may contribute to Cockayne syndrome, a devastating disease characterized by developmental defects, neurodegeneration, severe wasting, and premature aging.

Genetic defects in certain DNA repair factors like the CSB protein have been known for some time to cause premature aging, but the reasons are still unclear. Most cases of Cockayne [...]]]></description>
			<content:encoded><![CDATA[<p>Scientists have identified a fusion protein that may contribute to Cockayne syndrome, a devastating disease characterized by developmental defects, neurodegeneration, severe wasting, and premature aging.<br />
<span id="more-113"></span><br />
Genetic defects in certain DNA repair factors like the CSB protein have been known for some time to cause premature aging, but the reasons are still unclear. Most cases of Cockayne syndrome (CS) are caused by recessive mutations in the CSB gene, yet some individuals with inherited mutations that cause complete loss of the CSB protein are nearly unaffected. The implication is that CS is not caused solely by loss of functional CSB protein, but by continued expression of CSB-related proteins or protein fragments.</p>
<p>The University of Washington researchers, led by Alan Weiner, had been investigating the normal function of the CSB gene when co-author John Newman stumbled across hints that the human CSB gene harbored a previously unsuspected guest. The guest was a &#8220;domesticated&#8221; PiggyBac transposon &#8212; a formerly selfish &#8220;jumping gene&#8221; that had settled into the CSB gene over 40 million years ago before marmosets diverged from humans.</p>
<p>As a result, the CSB gene began making two equally abundant products &#8212; the normal CSB protein, and a fusion protein in which the beginning of the CSB protein was fused to the DNA transposase encoded by the PiggyBac element. Interestingly, the fusion protein continued to be expressed in almost all CS patients, but not in the individual who was unaffected by a complete loss of the CSB protein.</p>
<p>The conserved fusion protein is clearly advantageous for the human species in the presence of the CSB protein, but potentially devastating for individuals in the absence of the CSB protein. As Newman remarks, &#8220;The discovery of the fusion protein complicates an already complicated situation. Now we have a whole new set of questions to answer.&#8221;</p>
<p><strong>Source:</strong><a href="http://www.plos.org/"> Public Library of Science</a></p>
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		<title>People with Jobs syndrome lack specific immune cells</title>
		<link>http://medisyne.com/miscellaneous-syndromes/people-with-jobs-syndrome-lack-specific-immune-cells/</link>
		<comments>http://medisyne.com/miscellaneous-syndromes/people-with-jobs-syndrome-lack-specific-immune-cells/#comments</comments>
		<pubDate>Mon, 17 Mar 2008 21:52:31 +0000</pubDate>
		<dc:creator>Medisyne</dc:creator>
		
		<category><![CDATA[Miscellaneous Syndromes]]></category>

		<category><![CDATA[Jobs syndrome]]></category>

		<guid isPermaLink="false">http://medisyne.com/miscellaneous-syndromes/people-with-jobs-syndrome-lack-specific-immune-cells/</guid>
		<description><![CDATA[Scientists have made another major breakthrough&#8211;the second in the past year&#8211;in understanding a rare immune disorder called Job’s syndrome. Job’s syndrome is characterized by recurrent and often severe bacterial and fungal infections leading to outbreaks of abscesses and boils. Other symptoms of the disease include lung infections, problems in facial and dental development, curved spine [...]]]></description>
			<content:encoded><![CDATA[<p>Scientists have made another major breakthrough&#8211;the second in the past year&#8211;in understanding a rare immune disorder called Job’s syndrome. Job’s syndrome is characterized by recurrent and often severe bacterial and fungal infections leading to outbreaks of abscesses and boils. Other symptoms of the disease include lung infections, problems in facial and dental development, curved spine and high risk of bone fractures. While individuals with Job’s syndrome often have normal life spans with intensive medical supervision, <a href="http://cancer.zonemedicine.com">life-threatening</a> complications from infections are a constant concern.<br />
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Now, scientists at the National Institutes of Health (NIH) have shown that Job’s sufferers lack a specific type of infection-fighting white blood cell called Th17 cell, making them vulnerable to attacks by bacteria and fungi. The study was a collaborative effort of investigators from the National Institute of Allergy and Infectious Diseases (NIAID) and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), both components of NIH. </p>
<p>Th17 cells produce a protein called interleukin-17 (IL-17) and are known to play a major role in protection against invading pathogens. They are critical for recruiting other microbe-fighting immune cells called neutrophils to the site of infection. The study, which included 13 patients diagnosed with Job’s syndrome, revealed that Th17 cells were lacking in these patients. This is also the first demonstration of a human genetic disease where researchers have not been able to generate Th17 cells in laboratory experiments using blood samples from patients with Job’s syndrome.</p>
<p>The new findings strongly suggests that Th17 cells are important in the control of Staphylococcus bacteria and certain fungal infections and the research has the potential to uncover why certain people who do not have Job’s syndrome are prone to Staphylococcus and other fungal infections. </p>
<p>Although only 250 cases of Job’s syndrome have been reported since the disease was first described in 1966, NIH scientists have been studying the disease for 30 years. In September 2007, NIAID issued a press release about the first major breakthrough. NIAID scientists and their colleagues had discovered a mutation in the gene that makes a specific protein known to help alert and direct immune system responses to stop invading pathogens. The proteins coded by this gene are called signal transducer and activator of transcription 3 (STAT3). </p>
<p>With the current study, a team led by Daniel Douek, M.D., Ph.D., chief of the Human Immunology Section of the NIAID Vaccine Research Center, the research was carried a step further based on the knowledge that the gene that makes STAT3 is involved in the differentiation of Th17 cells. The researchers hypothesized that Job’s patients may be lacking Th17 cells and that the absence of these cells may contribute to the immune deficiency that results in recurrence of particular types of infections characteristic to Job’s syndrome. The research study, which included 13 patients diagnosed with Job’s syndrome, revealed that Th17 cells were lacking in these patients, while 10 healthy controls and also seven patients who had some Job’s-like symptoms, but no mutation in STAT3, had the Th17 cells. </p>
<p>It is known that patients with Job’s syndrome (technically known as hyperimmunoglobulin E syndrome, or HIES) have an elevated level of immunoglobulin E (IgE) antibodies and it is not clear to researchers why these people have high levels of IgE. Researchers say a future research study will likely explore the relationship between Th17 cells and the level of IgE antibodies and find out if the absence of Th17 cells in Job’s patients disrupts the immune system in a way that raises the level of these antibodies. </p>
<p>In conclusion, the investigators note that their research provides useful insights into why Job’s syndrome patients are so susceptible to repeated infections with fungus and Staphylococcus bacteria and documents the roles of STAT3 and IL-17 in humans.</p>
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