Immune System Development

Clues to an Old World Mystery From a New World Disease

Clues to an Old World Mystery From a New World Disease

In 1993, a mysterious outbreak unnerved residents and bewildered investigators in the Four Corners region of the southwest US. Late in the morning on May 14, paramedics rushed a 19-year-old Navajo man suffering from acute respiratory failure to the Indian Medical Center in Gallup, New Mexico. Paramedics and doctors alike were unable to resuscitate him. Postmortem X-rays revealed his lungs were filled with fluid. Even more puzzling was the fact that this young man was healthy and athletic. He was a track star with no history of illness except for mild flu-like symptoms a few days earlier. Because his death was unexplained, medical reports and his body were turned over to the Office of the Medical Investigator for further review and autopsy.

New Vascular Disease ACDC

ACDC

In 2008, the NIH launched the Undiagnosed Diseases Program (UDP). The UDP is a collaborative effort that spans across multiple disciplines such as the National Human Genome Research Institute (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.

The Radium Girls

The Radium Girls

Around the turn of the 20th century, scientific advancements occurred at a record pace. From Maxwell’s theory of electromagnetic waves to Einstein’s theories of relativity, long-standing mysteries of the universe were revealed. Medical discoveries also progressed feverishly. Countless lives were saved because of the practice of using antiseptics during surgery. The theory of germs gave us a greater understanding into the transmission of disease. Vaccines for cholera, anthrax, rabies, tetanus, diphtheria, typhoid fever, pertussis, tuberculosis, the plague, and many others were developed. In 1901, the ABO system of blood typing was successfully used for safer transfusions. Felix Hoffman developed aspirin from willow tree bark. The discovery of X-rays revolutionized diagnostic medicine, and the theory of radioactivity was proposed by Marie and Pierre Curie. An optimistic future lay ahead, but instead of cautiously navigating through this new field of radioactivity, arrogance and greed blazed the trail. Such is the story of the Radium Girls.

Acromegaly and Gigantism

Acromegaly and Gigantism

Throughout history, folklore, and every culture, stories about giants have persisted. The mythos surrounding them elicits memories of simpler times. Growing up, most children are made aware of Jack’s giant (Jack and the Beanstalk) or how Paul Bunyan carved the Grand Canyon by dragging his ax behind him. Giants have been portrayed as grotesque brutes and less than human, as is the case with Jack’s giant or the Cyclops from Greek mythology. Sometimes, giants are extremely agreeable and pleasant, such as the lovable gentle giant Fezzik in The Princess Bride. Giants may also represent monolithic feats or something that must be conquered, as is the case with the story of David and Goliath. Virtually every religion references giants, typically as creatures in the early days of mankind. In fact, giants have such a connection to religion that in recent years there have been several hoaxes involving giants that attempt to confirm biblical accounts. One of the more famous giant hoaxes occurred in Cardiff, New York, in 1869. The Cardiff giant was deliberately sculpted and buried at a farm in New York State by George Hull, a self-proclaimed atheist. The fake fossil was carved out of gypsum and measured over 10 feet long. Immediately upon its discovery, it was deemed a fake. However, that didn’t deter swarms of people from flocking to New York and shelling out 50 cents to see the real-life Goliath. As the rumor mill ramped up, declaring that the Cardiff giant was evidence of the Bible’s accuracy, P.T. Barnum wanted to cash in too. Barnum tried to rent the giant for his traveling circus but was turned down. Undeterred, Barnum created his own fake Cardiff giant and, interestingly enough, Barnum’s fake fossil was more popular than the original.

NIH Scientists Find That Proteins Involved in Immunity Potentially Cause Cancer

NIH Scientists Find That Proteins Involved in Immunity Potentially Cause Cancer

A set of proteins involved in the body’s natural defenses produces a large number of mutations in human DNA, according to a study led by researchers at the National Institutes of Health. The findings suggest that these naturally produced mutations are just as powerful as known cancer-causing agents in producing tumors.

The proteins are part of a group called apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like (APOBEC) cytidine deaminases. The investigators found that APOBEC mutations can outnumber all other mutations in some cancers, accounting for over two-thirds in some bladder, cervical, breast, head and neck, and lung tumors.

Month of Birth Impacts on Immune System Development

Month of Birth Impacts on Immune System Development

Newborn babies’ immune system development and levels of vitamin D have been found to vary according to their month of birth, according to new research.

The research, from scientists at Queen Mary, University of London and the University of Oxford, provides a potential biological basis as to why an individual’s risk of developing the neurological condition multiple sclerosis (MS) is influenced by their month of birth. It also supports the need for further research into the potential benefits of vitamin D supplementation during pregnancy.

Nanosponges Soak Up Toxins

Nanosponges Soak Up Toxins Released by Bacterial Infections and Venom

Engineers at the University of California, San Diego have invented a “nanosponge” capable of safely removing a broad class of dangerous toxins from the bloodstream – including toxins produced by MRSA, E. coli, poisonous snakes and bees. These nanosponges, which thus far have been studied in mice, can neutralize “pore-forming toxins,” which destroy cells by poking holes in their cell membranes. Unlike other anti-toxin platforms that need to be custom synthesized for individual toxin type, the nanosponges can absorb different pore-forming toxins regardless of their molecular structures. In a study against alpha-haemolysin toxin from MRSA, pre-innoculation with nanosponges enabled 89 percent of mice to survive lethal doses. Administering nanosponges after the lethal dose led to 44 percent survival.

Porphyria

Porphyria

The name porphyria is taken from the Greek root for purple (porphyra). Porphyrias are a group of 8 inherited or acquired disorders of heme biosynthesis. A deficiency in any of the 8 enzymes in the biosynthetic pathway can result in the accumulation and excretion of intermediary metabolites. Patients generally present with either neurovisceral (acute) or cutaneous symptoms but sometimes they may have mixed symptoms. One of the earliest descriptions of porphyria was made by B.J. Stokvis, MD, in 1889. In 1930, the German chemist Hans Fischer described porphyrins as The compounds which make grass green and blood red. In 1937, Jan Gosata Walenstrom coined the term porphyria he published research identifying one type of porphyria, acute intermittent porphyria (AIP). By 1960, all 8 types of porphyria had been described, as well as environmental factors that affect the course of the disease.  Porphyria research in the 1980s and 1990s identified the molecular defects in each type.

Carnitine Palmitoyltransferase

Carnitine Palmitoyltransferase (CPT), CPT-II Deficiency

A physically fit, 39-year-old Norwegian woman arrives at the hospital complaining of generalized muscle weakness. She informs the resident that her symptoms began 3 days earlier after experiencing flu-like symptoms and a sore throat. Her weakness has progressed to the point where she needs help walking and she indicates that her arms feel heavy and tired. She has a dull pain in her lower back, chest, and proximal muscles of both her arms and legs when she moves. She does not have any abdominal or urinary issues, sensory disturbances, or difficulties breathing or coughing. There is no history of drug or alcohol abuse; she doesn’t smoke or take prescription medications. She can’t recall having any insect bites and occasionally travels in Europe for business.

Primary Amoebic Meningoencephalitis

Primary Amoebic Meningoencephalitis (PAM)

There is no escaping the fact that our world is teeming with microorganisms. They share our world and are all around us. They live on, as well as inside, everyone. Some are beneficial. In industry, they are used to help break down hazardous waste in the development of food, biofuels, biotechnologies, and pharmaceuticals. Human flora and fauna contribute greatly to an individuals overall heath. They help boost our immune system and are key players in the production of biotin and vitamin K. It has even been suggested that mitochondria, our cellular powerhouse, are derived from a symbiotic relationship between eukaryotic cells (cells with a nucleus) and ancient bacteria that could produce energy through aerobic respiration.

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