Demystifying Medicine Demystifying MedicineSepsis is the body's response to infection — an inflammatory process marked by an elevated heart rate, rapid breathing and abnormal temperature. Even a minor infection, such as strep throat or influenza, can trigger sepsis. It's usually not life-threatening. But complications of sepsis can cause serious illness and death.
Severe sepsis occurs when your natural immune response to an infection goes into overdrive, triggering widespread inflammation and blood clotting in tiny vessels throughout your body. One or more organs may stop working properly or fail. Sepsis can lead to a dangerous drop in blood pressure (septic shock).
About 750,000 people in the United States get severe sepsis each year, and more than 200,000 people die of it. Those at increased risk include older adults, hospital and surgery patients, and people with impaired immune systems. Neonatal sepsis affects a small percentage of newborns, particularly low-birth-weight and premature infants.
Most commonly, bacterial infections lead to sepsis, but it may result from any type of infection — bacterial, viral, parasitic or fungal. Although sepsis often can't be prevented, getting prompt medical care for infections can reduce your risk.
Discovery of antibiotics which killed most forms of microbes lead to anticipation that infectious diseases were about to be eliminated as sources of human illness. This prediction proved to be over-enthusiastic and incorrect. Microbes, which had persisted since life began on earth, adapted to the new drugs, shifted their gene expression, became multi-drug resistant and, in some cases, manifested new and deadly toxins. Staphlococcal and enterobacterial infectious lead the list. Sudden onset of severe enteric, septicemic (blood-born) and tissue necrotizing infections has become commonplace as has recognition of toxicogenic staph, E Coli and other bacteria. Infections due to these agents has become a major health risk of increasing severity and challenge.
Regardless of the cause, acute sepsis is associated with platelet aggregation and consequent local thrombosis and hemorrhage, and defects in the coagulation system. These "coagulopathy" events are life threatening and, for the most part, are poorly understood.
In 1970, Gilbert Ashwell (NIH) and Anatole Morell (Albert Einstein) and colleagues described the first lectin receptor which also resulted in an early description of the process we now recognize as receptor-mediated endocytosis. The receptor was shown to be abundant on the plasma membrane of hepatocytes facing the blood stream. It bound galactose-terminated desialyated plasma glycoprotein's. and was postulated to be the mechanism for their removal. However, despite 35 years of subsequent study by many investigators, the natural substrate(s) for this abundant hepatocye-specific receptor remained unidentified.
In 2008, Marth and colleagues (UCSD) demonstrated the the asialoglycoprotein receptor regulates removal of von Willebrand factor (a critical coagulation component) as well as platelets from the circulation. Infection with Step pneumoniaie produced thrombocytopenia by removing platelets which were desialated by the bacterium's neuraminidase.
Other studies (Stossel, et al.) demonstrated that, on strage, platelets activate an endogenous nuraminidase, and are then endocytosed by hepatocytes through the Ashwell-Morell receptor.
Thus, an important link has been established between the receptor and development of coagulopathy in bacterial sepsis ... 35 years after its discovery.
The development of molecularly targeted drugs for treatment of HIV-AIDS has dramatically changed the quality of life for many patients. However, many Americans, particularly young men and women, have adopted a relaxed attitude toward the frequency, infectivity new severity of HIV infection, and some believe (unfortunately, erroneously) that the new drugs "cure" the disease. Possibly the biggest epidemic area for HIV infection in America is Washington-Baltimore. Globally, HIV continues to infect millions of individuals.
ON JANUARY 27TH 4:00-6:00pm in BUILDING 50 AUDITORIUM, Drs. Anthony Fauci, Director of NIAID, and Henry Masur, Director of Critical Care in the NIH Clinical Center will discuss: HIV; THE EPIDEMIC PERSISTS GLOBALLY AND LOCALLY.
This session of Demystifying Medicine will provide an excellent opportunity to learn about HIV as a virus and AIDS as a disease, changing epidemiology, global and local issues in controlling the disease, development of new drug targets and the problem of drug resistance. Major challenges for basic and clinical research will be discussed.
Most of what we know about the epidemiology of heart disease, complications, risk factors, outcome and treatments comes from study, which began in 1948, of ALL individuals living in the small Massachusetts town of Framingham, which is about 15 miles west of Boston.
This classic community study as drastically changed understanding, prejudices and treatments of cardiovascular disease and its related problems of stroke and vascular problems. From data starting with the original cohort, it is now possible to perform genomic studies searching for risk and favorable genes....and new drug targets.
This session of Demystifying Medicine will be conducted by Daniel Leevy, Director of the Framingham Heart study; Richard Cannon of NHLBI and Leslie Biesecker of HGRI. Patient presentations will "put a human face on the diseases" and subsequent discussion will cover epidemiology, risk factors, treatment, diagnosis and outcome....and focus on recent genomic developments.
Fibrous dysplasia is a disease that causes bone thinning[1] and growths or lesions in one or more bones of the human body.
These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved. Many patients have lesions localized in only one bone (monostotic fibrous dysplasia), affecting 70-80%. Others have them in many bones (polyostotic fibrous dysplasia).In 3% of cases, people suffering from fibrous dysplasia also have endocrine diseases and skin pigmentation; the three together constitute McCune-Albright syndrome. These endocrine diseases include precocious (early) puberty, often occurring as early as 6 years old.
Causes: Fibrous dysplasia is very rare; not much is known about it, and there is no known cure. The cause of the disease is unknown, but it is not hereditary.[2] There are two types of fibrous dysplasia: 1. Monostotic (Involving a single bone), and 2. Polystotic (Involving many bones). The most severe form of polystotic fibrous dysplasia is known as Albright Syndrome.
Blindness and other vision abnormalities are worldwide health problems of longstanding. Man's ability to see and translate what is seen into images involves remarkable complex mechanisms. Correction of defects in viasion constitutes a major challenge. Advances in understanding the embryology, biology of the eye and its central nervous connections have created new opportunities for diagnosis, treatment and pathobiology. Beginning with clinical aspects of vision and blindness, the Demystifying Medicine session will cover this broad spectrum.
Speakers: Joram Piatigorsky, PhD (NEI)
Robert Nussenblatt, MD (NEI)
Speakers: Win Arias (NICHD/OD) and Snorri Torgeirsson (NCI)
March 24th 4:00-6:00 pm Building 50 auditorium
Clinically, primary cancer of the liver is a major cancer worldwide, particularly in the Orient although its frequency in the western world is increasing substantially. What accounts for the geographic distribution, male gender preference and different phenotypes? Why is it diagnosed relatively late during the of the disease and why have various treatments not substantially altered the outcome? These questions will be considered in the light of recent discoveries and advances in "early diagnosis" and treatment. Results of basic research have detailed molecular paths in development of hepatocellular cancer and its subsequent spread and metastasis, identified predictive expression profiles, revealed new diagnostic and "screening" approaches and suggest new therapeutic strategies.
What is Fragile X?
Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
Since 1984, The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to: 1) supporting and funding all efforts that will increase awareness, 2) improving education, 3) advancing research toward improved treatments and an ultimate cure, and 4) keeping the Fragile X community always well-informed about the progress of these efforts.
This web page was last modified on April 21, 2009. For questions about the course, please contact ariasi@mail.nih.gov.