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Rare Disease

Staph infection

It’s a Dirty Game: MRSA in the NFL

Recently, New York Giants wide receiver Daniel Fells was diagnosed with a methicillin-resistant Staphylococcus aureus (MRSA) infection.  Fells has since been sidelined for the rest of the season.  The Giants are taking aggressive precautions to stop the spread of infection among players, including conducting consultations with infectious disease specialists.

batten disease

Batten Disease

Batten disease—also known as Spielmeyer-Vogt-Sjögren-Batten disease—is a rare, fatal autosomal-recessive neurodegenerative disorder named for the British pediatrician who identified the condition in 1903. It is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCLs).

Mad Cow Disease

Mad Cow Disease

The official name for mad cow disease is bovine spongiform encephalopathy (BSE). BSE is a fatal disease that attacks the nervous system of cattle.

Hepatitis C Becomes Rare Disease

Study Predicts Hepatitis C Will Become a Rare Disease in 22 years

Effective new drugs and screening would make hepatitis C a rare disease by 2036, according to a computer simulation conducted by The University of Texas MD Anderson Cancer Center and the University of Pittsburgh Graduate School of Public Health. The results of the simulation are reported in the August 5 edition of the journal Annals of Internal Medicine.

Christmas Disease

Christmas Disease

Once known as the Royal Disease, hemophilia B is a rare bleeding disorder that stems from a defect in a specific clotting factor: factor IX. Factor IX, or F9, is a specialized protein needed in the coagulation cascade and the formation of a stable fibrin clot. Hemophilia B was once called the Royal Disease because Queen Victoria of England passed the factor IX mutation through several royal families in Europe. It is inherited in a recessive, X-linked fashion. Because of its mode of inheritance, males are primarily affected and become symptomatic, whereas females are mainly carriers. Queen Victorias eighth child, Prince Leopold, Duke of Albany, was a hemophiliac and died as a result of this disease at the age of 31. One may say that Queen Victoria was the Royal Diseases patient zero. Two of her five daughters, Alice and Beatrice, inherited the defective gene and became carriers like their mother. Beatrice passed it into the Spanish bloodline and Alice passed it into Russian and German bloodlines.

Kawasaki Disease

A Disease Scattered to the 4 Winds

In 2013, a mother arrived at a Texas clinic with her 4-year-old son in tow. Three weeks earlier, he had been diagnosed with ringworm and given an antifungal (griseofulvin), but he had recently stopped eating. Concerned about his loss of appetite, she patiently waited for a doctor to see her son. When the doctor finally saw them, she informed him that it had been 2 days since her son ate. He also had begun to develop a rash on his face, trunk, and extremities and had some nasal congestion and an occasional cough. The doctor conducted a physical exam on the boy but there was nothing extraordinary other than his presenting symptoms: a sand paper–like erythematous rash and reddish mucosal tissue in his mouth and throat. He wasnt feverish, his cough was not persistent, and a rapid strep test was negative. Believing he had contracted a virus, the doctor sent him home to rest.

Epidermodysplasia Verruciformis

EV: The Other HPV

It was once a pervasive theory that warts come from playing with toads and frogs, but it is now nothing more than an old wives’ tale. Today, for most people, it is an absurd concept. But it is derived from an old medical axiom, which is really medical folklore, about “like producing like.” Simply put, because toads and frogs have wart-like bumps, playing with them transfers those wart-like bumps to humans. Forget about the fact that frogs are smooth, or the fact that neither actually have warts. It was a simple and easy way to understand and explain an unknown phenomenon. In fact, it would not be surprising if this folklore were still passed down from parent to child in some remote corner of this country.

Gut Fermentation Syndrome

Gut Fermentation Syndrome

Gut fermentation syndrome, also known as auto-brewery syndrome or syndrome A and endogenous ethanol fermentation, is a rare disorder with few reported cases. Based on existing literature, it is more predominant in Japan than in the US, but even in Japan, it is extremely rare. A quick Internet search produces 341,000 results, with mostly media articles in the top 10 and, further down, lawyers soliciting their services for DUI offences. It’s interesting that most of the reports were about a single case that appeared in the International Journal of Clinical Medicine. Of course, sensationalism sells, and with headlines such as “Texas man’s ‘beer gut’ turns food into alcohol” and “Auto-brewery syndrome: man’s belly brews beer,” you can’t help but attract readers, but is it misleading? Based on the headlines alone, one may assume that beer bellies turn food into alcohol, or literally brew beer. What is it about this case study that has lawyers champing at the bit?

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