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-- On Thursday, April 27th, representatives from the Health Policy Commission presented $425,000 in funding for Heywood Healthcare to implement new School Based TeleBehavioral Health Services to address the existing behavioral health needs and the gaps in care for the North  Central and North Quabbin region, in particular for youth and children.This collaborative model will leverage interactive video conferencing technology to increase access to behavioral health services for school aged children and their families in a convenient and non-threatening setting. The project is a partnership between Heywood Healthcare, Narragansett Regional and Ralph C. Mahar Regional School Districts in partnership with Clinical Support Options, Northeast Telehealth Resource Center and Mclean Hospital.Heywood Healthcare's new TeleBehavioral Health model shifts the traditional model of behavioral health treatment from being isolated in clinical settings to the community, reaching children in a familiar setting where there is a support system. Behavioral Health services will now be directly accessed in the school, breaking down barriers by offering timely access, lower costs, and reduced time constraints, while filling service gaps inherent in rural areas.This collaborative venture has gained support at the State House, as well. Senator Anne Gobi sees this new venture of positively impacting area youth. "Having the ability to make sure people in our more rural areas are able to access health care is a necessity," she stated. "This grant is critical piece in providing services. I appreciate all that Heywood Healthcare has done and continues to do for our region"Additionally, Representative Susannah Whipps agrees the implementation of tele-health services can enhance the health and wellbeing of the entire region. "This grant will help allow local residents, who choose to live in our beautiful rural region, to access  behavioral health services around the world to get the care they need and deserve." Representative Whipps thanks the Health Policy Commission for recognizing the need for these important services and Heywood Healthcare for being a leader in providing quality services to our region."Massachusetts is home to some of the most creative, forward-thinking health care leaders in the world. This unique initiative from Heywood Healthcare will increase access to behavioral health services by integrating telemedicine technology directly into schools to address a current unmet need," said David Seltz, HPC Executive Director. "This award promotes the HPC's commitment to transformation and innovation in our health care system. We look forward to continuing to partner with Heywood Healthcare and the communities it serves to build a more coordinated and affordable health care system.""Heywood Healthcare is steadfast in our commitment to improving access to healthcare services," shared Dawn Casavant, Vice President of Philanthropy and External Affairs for Heywood Healthcare. Early identification and access to behavioral health services are pivotal to the health and well-being of our region's youth, and we are grateful for the support of the Health Policy Commission, and the willingness of our local school districts to work in partnership to bridge existing gaps in care."For more information on the TeleBehavioral Health grant and the programs it supports, please contact Maureen Donovan, Project Manager, at (978) 249-3703.###About Athol HospitalA member of the Heywood Healthcare system, Athol Hospital is a 25-bed non-profit, acute care and outpatient facility serving the communities of the North Quabbin region of Massachusetts. Athol Hospital's services include 24/7 Emergency Care, Oncology, Radiology and Laboratory, Diabetes Center and Center for Skilled Nursing and Rehabilitation. It is designated as a Critical Access Hospital and Primary Stroke Center, licensed by the Massachusetts Department of Public Health and accredited by the Joint Commission.About Heywood HospitalA member of the Heywood Healthcare system, Heywood Hospital is a 134-bed acute care hospital in Gardner, MA, which provides a broad range of high quality medical, surgical, obstetrical, pediatric and behavioral health services on an inpatient and outpatient basis. The hospital's Centers of Excellence include the Watkins Center for Emergency and Acute Care; the LaChance Maternity Center; the Diabetes Center; and the Heywood Heart and Vascular Center, an affiliate of the Heart and Vascular Center of Excellence at UMass Memorial Health Care.About Heywood HealthcareHeywood Healthcare is an independent, community-owned healthcare system serving north central Massachusetts and southern New Hampshire. It is comprised of Heywood Hospital, a non-profit, 134-bed acute-care hospital in Gardner, MA; Athol Hospital, a 25-bed not-for-profit, Critical Access Hospital in Athol, MA; the Quabbin Retreat in Petersham, MA; and Heywood Medical Group with primary care physicians and specialists located throughout the region. The organization includes six satellite facilities in MA; Heywood Rehabilitation Center and Heywood Urgent Care in Gardner; West River Health Center in Orange; Winchendon Health Center and Murdock School-based Health Center in Winchendon; Heywood Charitable Foundation; the North Quabbin Community Coalition, an affiliate organization;and The Quabbin Retreat in Petersham.About the Health Policy CommissionThe Health Policy Commission (HPC) is an independent state agency established through Chapter 224 of the Acts of 2012, the Commonwealth's landmark health care cost containment law. The HPC, led by an 11-member Board with diverse experience in health care, is charged with developing health policy that reduces overall cost growth while improving the quality of care, and monitoring the health care delivery and payment systems in Massachusetts. The HPC's mission is to advance a more transparent, accountable, and innovative health care system through its independent policy leadership and investment programs. Visit us at Mass.gov/HPC. Tweet us @Mass_HPC

News Article | April 25, 2017
Site: www.prweb.com

Nebraska Methodist College invites Minne Lusa Elementary School students and their families to the fourth annual Community Health Fair on Tuesday, April 25. Nursing students from NMC again will host this important community event, which provides a free hot meal, raffle prizes and fun activities. Participants also will have a chance to interact and participate with many healthcare and community organizations. Last year’s event drew more than 500 people. This year, the event has been coordinated by Bachelor of Science in Nursing students Ashley Coffiel and Emily Rollag. "Our primary objectives of the health fair are to offer health-related education, health screenings and free, healthy meal for the students, families and surrounding neighborhood community,” said Casey Shapiro, a junior Bachelor of Science in Nursing student at NMC. The NMC students are coordinating a drive to send food and care packages home with families. Minne Lusa has one of the highest free and reduced school lunch rates in Omaha Public Schools at over 87.8 percent. The NMC Mobile Diabetes Center also will be in attendance to offer free health screenings. Community members can support the students and their families before or after the event by making a donation through Nebraska Methodist College's Clark Center at 720 N. 87th Street. Toiletries, clothing, nonperishable food and raffle prizes, such as toys, are needed. EVENT DETAILS Date: Tuesday, April 25 Time: 4:30-6:30 p.m. Cost: Free, open to the public Where: Minne Lusa Elementary School (2728 Ida Street, Omaha) Activities: Health screenings, free meal, music, games and meet and greet with firefighters and police officers. ABOUT NEBRASKA METHODIST COLLEGE Nebraska Methodist College – the Josie Harper Campus, based in Omaha, has been teaching the meaning of care for 125 years and counting. An affiliate of Methodist Health System, NMC offers certificate, bachelor’s, master’s and doctoral degrees both on campus and online. Nebraska Methodist College is fully accredited by the Higher Learning Commission of the North Central Association of Colleges and Schools.

News Article | February 16, 2017
Site: www.eurekalert.org

The global proliferation of overweight and obese people and people with type 2 diabetes is often associated with the consumption of saturated fats. Scientists at the German Diabetes Center (Deutsches Diabetes-Zentrum, DDZ) and the Helmholtz Center in Munich (HMGU) have found that even the one-off consumption of a greater amount of palm oil reduces the body's sensitivity to insulin and causes increased fat deposits as well as changes in the energy metabolism of the liver. The results of the study provide information on the earliest changes in the metabolism of the liver that in the long term lead to fatty liver disease in overweight persons as well as in those with type 2 diabetes. In the current issue of the "Journal of Clinical Investigation", DZD researchers working at the German Diabetes Center, in conjunction with the Helmholtz Center in Munich and colleagues from Portugal, published a scientific investigation conducted on healthy, slim men, who were given at random a flavored palm oil drink or a glass of clear water in a control experiment. The palm oil drink contained a similar amount of saturated fat as two cheeseburgers with bacon and a large portion of French fries or two salami pizzas. The scientists showed that this single high-fat meal sufficed to reduce the insulin action, e.g. cause insulin resistance and increase the fat content of the liver. In addition, changes in the energy balance of the liver were proven. The observed metabolic changes were similar to changes observed in persons with type 2 diabetes or non-alcoholic fatty liver disease (NAFLD). NAFLD is the most common liver disease in the industrial nations and associated with obesity, the so-called "metabolic syndrome," and is associated with an increased risk in developing type 2 diabetes. Furthermore, NAFLD in advanced stages can result in severe liver damage. "The surprise was that a single dosage of palm oil has such a rapid and direct impact on the liver of a healthy person and that the amount of fat administered already triggered insulin resistance", explained Prof. Dr. Michael Roden, scientist, Managing Director and Chairman at the DDZ and the German Center for Diabetes Research (Deutsches Zentrum für Diabetesforschung, DZD). "A special feature of our study is that we monitored the liver metabolism of people with a predominantly non-invasive technology, e.g. by magnetic resonance spectroscopy. This allows us to track the storage of sugar and fat as well as the energy metabolism of the mitochondria (power plants of the cell)." Thanks to the new methods of investigation, the scientists were able to verify that the intake of palm oil affects the metabolic activity of muscles, liver and fatty tissue. The induced insulin resistance leads to an increased new formation of sugar in the liver with a concomitant decreased sugar absorption in the skeletal muscles - a mechanism that makes the glucose level rise in persons afflicted with type 2 diabetes and its pre-stages. In addition, the insulin resistance of the fatty tissue causes an increased release of fats into the blood stream, which in turn continues to foster the insulin resistance. The increased availability of fat leads to an increased workload for the mitochondria, which can in the long term overtax these cellular power plants and contribute to the emergence of a liver disease. The team of Prof. Roden suspects that healthy people, depending on genetic predisposition, can easily manage this direct impact of fatty food on the metabolism. The long-term consequences for regular eaters of such high-fat meals can be far more problematic, however. This paper is promoted by the Federal Ministry of Health, the Ministry for Innovation, Science and Research of the state of North Rhine-Westphalia, the Federal Ministry for Education and Research (Deutsches Zentrum für Diabetesforschung e.V.), as well as the German Research Foundation (Deutsche Forschungsgemeinschaft, DFG), the German Diabetes Society (DDG) and the Schmutzler Foundation. Elisa Álvarez Hernández, Sabine Kahl, Anett Seelig, Paul Begovatz, Martin Irmler, Yuliya Kupriyanova, Bettina Nowotny, Peter Nowotny, Christian Herder, Cristina Barosa, Filipa Carvalho, Jan Rozman, Susanne Neschen, John G. Jones, Johannes Beckers, Martin Hrab? de Angelis and Michael Roden, Acute dietary fat intake initiates alterations in energy metabolism and insulin resistance, J Clin Invest. 2017, January 23, 2017. doi:10.1172/JCI89444. The German Diabetes Center (DDZ) is the German reference center for diabetes. The goal is to contribute to the prevention, early detection, diagnosis and treatment of diabetes mellitus. At the same time, the research center aims at improving the epidemiological data situation in Germany. DDZ is in charge of the multi-center German Diabetes Study. It is the point of contact for all players in the health sector. In addition, it prepares scientific information on diabetes mellitus and makes it available to the public. DDZ is part of "Wissenschaftsgemeinschaft Gottfried Wilhelm Leibniz" (WGL) and is a partner of the German Center for Diabetes Research (DZD e.V.). The German Center for Diabetes Research (DZD) is a national association that brings together experts in the field of diabetes research and combines basic research, translational research, epidemiology and clinical applications. The aim is to develop novel strategies for personalized prevention and treatment of diabetes. Members are Helmholtz Zentrum München - German Research Center for Environmental Health, the German Diabetes Center in Düsseldorf, the German Institute of Human Nutrition in Potsdam-Rehbrücke, the Paul Langerhans Institute Dresden of the Helmholtz Zentrum München at the University Medical Center Carl Gustav Carus of the TU Dresden and the Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Zentrum München at the Eberhard-Karls-University of Tuebingen together with associated partners at the Universities in Heidelberg, Cologne, Leipzig, Lübeck and Munich. The Helmholtz Zentrum München, the German Research Center for Environmental Health, pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München is headquartered in Neuherberg in the north of Munich and has about 2,300 staff members. It is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members

The International Nurses Association is pleased to welcome Sarah Sherman Ferguson, MS, BSN, ACNS-BC, BC-ADM, CDE to their prestigious organization with her upcoming publication in the  Worldwide Leaders in Healthcare. Sarah Sherman Ferguson is a Clinical Nurse Specialist with 38 years of experience in her field and an extensive expertise in all facets of nursing, especially in the care of children and adults with diabetes. Sarah is currently serving patients within Northwestern Medicine Central DuPage Hospital in Winfield, Illinois and Northwestern Medicine Delnor Hospital, Geneva, Illinois and is also affiliated with Centegra Diabetes Center in Crystal Lake, Illinois. Sarah attended Duke University School of Nursing, where she graduated with her Bachelor of Science Degree in Nursing in 1978. An advocate for continuing education, Sarah went on to earn her Master of Science Degree in 1999 from the University of Wisconsin-Madison. She is board certified in Advanced Clinical Diabetes Management, is a board certified Adult Clinical Nurse Specialist, and is a Certified Diabetes Educator. To keep up to date with the latest advances and developments in her field, Sarah maintains professional memberships with the American Nurses Association, the Illinois Society for Advanced Practice Nursing, American Association of Diabetes Educators and the Sigma Theta Tau International Honor Society of Nursing. Additionally, she is a retired Lieutenant Colonel in the United States Air Force and the recipient of four Meritorious Service Medal Awards. She attributes her success to loving what she does, as well as her love for problem solving. When she is not assisting her patients, Sarah enjoys ballet, pilates, and aerial yoga. Learn more about Sarah Sherman Ferguson here: http://inanurse.org/network/index.php?do=/4135138/info/ and be sure to read her upcoming publication in the Worldwide Leaders in Healthcare.

News Article | February 15, 2017
Site: www.prweb.com

Northern California Medical Associates (NCMA) is proud to announce that Redwood Family Dermatology has recently joined their multi-specialty medical group. The dermatology practice provides general dermatologic treatment, outpatient surgery, clinical trials and a full range of cosmetic services. “We’re excited to add this excellent dermatology practice to our group’s medical services,” explains NCMA CEO, Ruth Skidmore. “Our patients benefit with easier referrals, shared health record access and continuity of care. NCMA is well known in Northern California for attracting top level physicians to join it’s elite medical team and NCMA patients recognize and appreciate the premium level of care.” Started in 2002, Redwood Family Dermatology has offices in Sonoma and Mendocino counties. Their four physicians and two certified physician assistants are recognized local leaders in the management of skin health and skin disease by providing the highest level of care and offering outstanding service. These providers offer a full line of dermatology care for patients including adult dermatology, skin cancer screening and treatment, Mohs surgery, cosmetic dermatology, esthetic services, laser hair removal, intense pulsed light treatment, V-Beam laser treatment, excimer laser for psoriasis, BLU-U light treatment and sclerotherapy and clinical research. Redwood Family Dermatology also uses injectables such as Botox® and Dysport® for fine facial lines along with Restylane® and Juvederm® for deep skin folds, facial lines and lip lines. NCMA CEO Ruth Skidmore notes, “In our changing health care landscape, adding this top-level dermatology practice to our existing medical group is very exciting. Local patients will benefit with increased access and providers benefit via our centralized administration and professional practice management model. NCMA handles physician recruitment, billing, contracting, purchasing, collections, human resources, accounting and reporting functions leaving the physicians with more quality time for their patients.” Northern California Medical Associates (NCMA) is the premier provider of medical and surgical care north of the Golden Gate since 1975. NCMA has successfully created a model featuring an independent, multi-specialist group practice that allows their patients access to a sweeping range of medical and surgical services, diagnostic testing and preventive programs. NCMA is owned by the most highly respected primary care physicians and specialists. NCMA’s clinical specialties include centers of excellence in cardiology (comprehensive care, interventional and the HeartWorks rehabilitation program), cardiovascular testing/services, cardiovascular/thoracic surgery, dermatology, endocrinology (incorporating the NCMA Diabetes Center, thyroid disease and osteoporosis treatment), endovascular care (NCMA Vein Center), ENT/otolaryngology (Santa Rosa Head & Neck Surgery, NCMA Allergy Center, NCMA Hearing Center and the NCMA Thyroid Center), family medicine, internal medicine, obstetrics & gynecology (Women’s OB/Gyn Medical Group), orthopedics, podiatry, pulmonary medicine, rheumatology and urology (including Northern California’s only HIFU treatment for prostate cancer). The group serves patients in Sonoma, Lake and Mendocino counties. Redwood Family Dermatology (RFD) was started by Dr. Jeffrey Sugarman as a solo physician. He was later joined by Albert Peng MD, Judith Hong, MD, Ligaya Park, DO, Angela Wyble PA-C and Heather Lowe PA-C. The practice also offers the services of an esthetician, Dionne Ferronato and Tatiana Longoria, RN who provides cosmetics as well as laser services for psoriasis and RFD providers are committed to clinical, professional, ethical, and academic excellence through active engagement in ongoing medical research and education, sensitivity to patients' needs, and community service. In August 2006, RFD opened a satellite office in Ukiah, which provides convenience for coastal area patients. The practice serves patients in Sonoma and Mendocino Counties with office locations in Santa Rosa and Ukiah. For more information about the full range of services offered by Northern California Medical Associates, including dermatology, visit the NCMA website. To make an appointment with Redwood Family Dermatology call: (707) 545-4537 or for more information on NCMA or RFD go to: ncmahealth.com or redwoodfamilyderm.com

News Article | October 28, 2016
Site: www.prweb.com

Following a morning press conference on Monday, Oct. 24 featuring Congressman Brad Ashford, Nebraska Methodist College (NMC) will host a luncheon and block party designed to bring further awareness to the work being done for those impacted by hazardous lead in the Omaha community. 10 a.m.: Brad Ashford press conference at lead-affected home. Hosted by Omaha Healthy Kids Alliance. Address available by request. Noon: Nebraska Methodist College luncheon featuring keynote speaker Michelle Miller, United States Office of Healthy Homes and Lead Hazard Control. Representatives from OHKA, NMC, Douglas County, and City of Omaha will share information on the initiatives in the Omaha community. 5 p.m.: Sherman Elementary Block Party. Family activities, community groups, free food and prizes. National Lead Poisoning Prevention Week starts October 24, and Omaha stands at the forefront of efforts to help kids become free of the dangerous substance. Through a partnership with Omaha Healthy Kids Alliance (OHKA) and the Douglas County Health Department, students and faculty have spent months conducting tests of those children deemed most at-risk for lead poisoning, providing a bridge to get them the assistance they need. Congressman Brad Ashford hosts a 10 a.m. press conference from one of the very homes affected by lead poisoning, a home that has been transformed into a safe environment thanks to the work of these groups. The press conference officially kicks off the Lead Free in Five campaign sponsored by the OHKA. Following the press conference, a luncheon at Nebraska Methodist College will feature Michelle Miller, Deputy Director of the Office of Healthy Homes and Lead Hazard Control, as the keynote speaker. She will discuss the issue of lead poisoning on the national stage and the example being set here in Omaha. She will be followed by representatives of various groups all focused on making Omaha a lead-free community. Later in the evening, Sherman Elementary School is the site of a block party made possible by Nebraskans for Civic Reform. A variety of community organizations is on hand to offer free food, entertainment and prizes for adults and children alike. NMC’s own Mobile Diabetes Center will provide lead testing and other services, including diabetes screening, glucose monitoring and more. “For months, we’ve been working with truly fantastic people throughout Omaha who really care about the wellbeing of these kids,” said Echo Perlman, assistant professor and coordinator of the Nebraska Methodist College lead testing initiative. “Many in our community are of the mistaken assumption that lead poisoning is a problem that we’ve moved past, but the scandal in Flint, Mich., and the results I’ve seen with my own eyes show that there’s still work to be done. We need to make sure this issue never gets overlooked, as the results can be catastrophic to a child’s long-term health.” Children and families of Sherman Elementary and other nearby schools are all invited to take in the block party from 5 to 7 p.m. About Nebraska Methodist College The Omaha, Nebraska-based Nebraska Methodist College of Nursing and Allied Health – the Josie Harper Campus has been teaching the meaning of care for 125 years and counting. An affiliate of Methodist Health System, NMC offers certificate, undergraduate, graduate and doctoral degrees both on campus and online. Nebraska Methodist College is fully accredited by The Higher Learning Commission of the North Central Association of Colleges and Schools.

Candido R.,Diabetes Center
Current Opinion in Nephrology and Hypertension | Year: 2014

PURPOSE OF REVIEW: Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) is a cytokine belonging to the TNF superfamily. TRAIL may modulate cell survival and proliferation through interaction with two different receptors, TRAIL-R1 and TRAIL-R2. The actions of TRAIL are regulated by three decoy receptors, TRAIL-R3, TRAIL-R4 and osteoprotegerin (OPG). There is evidence that both TRAIL and OPG are expressed by renal cells. The OPG/TRAIL axis has been recently linked to the pathogenesis of renal damage and, in particular, diabetic nephropathy. RECENT FINDINGS: In patients with kidney diseases, serum TRAIL and OPG levels are increased in parallel and are significantly associated with each other. In diabetic nephropathy, the renal expression of TRAIL and OPG is elevated, and in tubular cells proinflammatory cytokines enhance TRAIL expression. Additionally, a high-glucose microenvironment sensitizes tubular cells to apoptosis induced by TRAIL, whereas OPG counteracts the actions of TRAIL in cultured cells. SUMMARY: It seems that the expression and levels of TRAIL and OPG at serum and kidney levels are crucial for the pathogenesis of kidney diseases, and in particular diabetic nephropathy. Although further studies are necessary to clarify the exact role of the OPG/TRAIL axis in the kidney, this system seems to hold promise to provide therapeutic approaches for the management of renal damage. VIDEO ABSTRACT AVAILABLE: See the Video Supplementary Digital Content 1 (http://links.lww.com/CONH/A5). © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Candido R.,Diabetes Center
Diabetes, Obesity and Metabolism | Year: 2013

Diabetes is characterized by glycaemic disorders that include both sustained chronic hyperglycaemia and acute fluctuations (i.e. glycaemic variability). Increasing attention is being paid to the role of glycaemic variability as a relevant determinant for diabetes control and prevention of its vascular complications. As a consequence, it is strongly suggested that a global antidiabetic strategy should be aimed at reducing to a minimum the different components of glycaemic control (i.e. HbA1c, fasting and postprandial glucose, as well as glycaemic variability). Subjects at risk of hypoglycaemia, subjects with postprandial hyperglycaemia and patients who need to adjust or start insulin seem to be the categories that require glycaemic variability monitoring. The analysis of blood glucose variability represents an additional tool in the global assessment of glycaemic control and can serve as a guide to the clinician in the management of therapy and for the patients both in the prevention of acute complications, in particular hypoglycaemia, and chronic disease, in particular macrovascular complications. © 2013 John Wiley & Sons Ltd.

Zittermann A.,Diabetes Center
Anticancer Research | Year: 2014

It has long been known from case series that vitamin D excess can lead to atherosclerosis and vascular calcification in humans. In the 1980s, ecological studies provided data that deficient human vitamin D status may also increase the risk of developing cardiovascular disease (CVD). The assumption of a biphasic vitamin D effect on CVD is supported by experimental studies: Numerous studies have demonstrated positive effects of the vitamin D hormone (1,25-dihydroxyviramin D) on the cardiovascular system. However, the effects and mechanisms that lead to vascular calcification by vitamin D excess could also be confirmed. Large prospective observational studies support the hypothesis of a U-shaped association between vitamin D and CVD. These studies indicate that deficient circulating 25-hydroxyvitamin D levels (<30 nmol/l) are independently-associated with increased CVD morbidity and mortality. They also suggest that those circulating 25-hydroxyvitamin D levels, which have long been considered to be safe (100-150 nmol/l), are associated with an increased CVD risk. Meanwhile, numerous randomized controlled trials have investigated the effects of vitamin D supplements or ultraviolet B radiation on biochemical cardiovascular risk markers, cardiovascular physiology, and cardiovascular outcomes. Overall, results are mixed with the majority of studies reporting neither beneficial nor adverse vitamin D effects. Several limitations in the study design, which may have prevented beneficial vitamin D effects, are discussed. In conclusion, it must be stated that the role of vitamin D in the prevention and management of CVD as well as the dose-response relationship of potentially harmful effects still remain to be established. © 2014, International Institute of Anticancer Research. All rights reserved.

Cheng M.H.,Diabetes Center | Anderson M.S.,Diabetes Center
Annual Review of Immunology | Year: 2012

Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the fundamental mechanisms of immunologic tolerance. Such syndromes reveal not only the contribution of an individual breakpoint in tolerance but also patterns in the pathogenesis of autoimmunity. Disturbances in innate immunity, a system built for ubiquitous sensing of danger signals, tend to generate systemic autoimmunity. For example, defects in the clearance of self-antigens and chronic stimulation of type 1 interferons lead to the systemic autoimmunity seen in C1q deficiency, SPENCDI, and AGS. In contrast, disturbances of adaptive immunity, which is built for antigen specificity, tend to produce organ-specific autoimmunity. Thus, the loss of lymphocyte homeostasis, whether through defects in apoptosis, suppression, or negative selection, leads to organ-specific autoimmunity in ALPS, IPEX, and APS1. We discuss the unique mechanisms of disease in these prominent syndromes as well as how they contribute to the spectrum of organ-specific or systemic autoimmunity. The continued study of rare variants in autoimmune disease will inform future investigations and treatments directed at rare and common autoimmune diseases alike. © 2012 by Annual Reviews. All rights reserved.

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