Cure Your Own Cancer

Via plime: the AP reports on a Duke University student working to find a cure for his own rare form of cancer:

Chordoma — the cancer Josh learns he has — is a one-in-a million disease. Just 300 people get the terrible news each year, not even one per day. It strikes all ages, at different spots along the spinal column. The tumors can be removed, but the cancer is relentless. Chemotherapy doesn’t work. Life expectancy is around seven years.
The MRI shows Josh’s tumor is in a tough spot, in a bone inside his skull. It extends onto his brain stem and wraps around several arteries. There are two surgeries, then weeks of recovery in the hospital. He and Simone pass the time reading whatever they can about the disease.
There isn’t much. The massive apparatus of medical research — pharmaceutical companies, foundations, universities, government agencies — is utilitarian. High-prevalence diseases are at the front of the line, rare ones like chordoma usually at the back.
But then, a stroke of good fortune. It turns out that the only researcher in the country with a grant to study chordoma happens to be at Duke, working in a VA lab across the street from campus.

Josh later cuts back on his research activities in favor of the Chordoma Foundation which he and his mother founded to better organize research into chordoma. The article also mentions a few other patient-researchers.

Acromegaly in the News

Via pilme: the Daily Mail reports on a chance meeting at a restaurant that led to a diagnosis of acromegaly, a rare condition that affects 3 people in a million.

The life-saving handshake happened on December 6, when lifelong friend Rob Thompson brought Dr Britt to an Italian restaurant Mr Gurrieri runs in Canary Wharf.
"I came out to meet them at the door. My friend, Rob, brought Chris along for the first time," he said.
"We shook hands and I sat them down at the table. He didn't say anything to me at the time but he turned to Rob as soon as he sat down and said 'I'm sure he has acromegaly, I can tell you. I'll stake my career on it.'
"Rob didn't tell me straight away. He came in two days later and was really nervous about telling me.
"I got straight on the internet. I read down the lines and saw the word 'tumour'. That word is frightening, especially when it has to do with the head.
"I went to my GP with everything I could print off from the internet and waved it under his nose.
"He looked it up and said he wasn't sure but would send me off for a blood test and MRI scan. They came back positive for acromegaly."
The condition, in which a tumour grows on the pituitary gland, causes an increase in growth hormones that can cause giantism in children.
In adults, it causes soft tissues to be deposited in the hands and growth of the skull bones.

Transmission of devil facial-tumor disease

ProMED-mail reports on a "brief communication" in the latest Nature, Allograft theory: Transmission of [Tasmanian] devil facial-tumour disease:

Scientists suspect infected animals pass on the malignant cells when they bite each other during a fight or courtship.
Pearse and a colleague found the tumors had 13 rather than the normal 14 chromosomes. The chromosomes were abnormal, but their arrangement was identical in tumors taken from different animals. They suspect the low genetic diversity of the animals might reduce their immune response to the cancerous cell transferred during biting.
-- ProMED-mail. DEVIL FACIAL TUMOR DISEASE - AUSTRALIA (TASMANIA). ProMED-mail 2006; 1 Feb: 20060201.0328. http://www.promedmail.org. Accessed 1 February 2006.

Gory pictures are available from the Tasmanian Department of Primary Industries, Water & Environment.

Post-Hurricane Diseases II

Despite their earlier optimism, the CDC reports five deaths from Vibrio vulnificus.

The patients, evidently evacuees, appear to have been infected with Vibrio vulnificus bacteria, a water-borne pathogen that is related to the bacteria that cause cholera and is common in water off the Gulf of Mexico.

Q Fever

The AP reports on a mysterious case of Q fever in Texas.

Flesh-Eating Disease in Flagstaff

Via ProMED-mail: the Arizona Republic reports on two related cases of necrotizing fasciitis:

A patient with flesh-eating bacterium spread the infection to a health care worker at Flagstaff Medical Center, leaving both people hospitalized in serious condition.
The state Department of Health Services has asked doctors at the hospital to monitor other workers for symptoms, even though they don't think it has spread.
The DHS said the Flagstaff case represents the first documented case in Arizona of invasive Group A streptococcus spreading from a patient to a health care worker.
Officials at the medical center don't know how the disease was spread.

Acute Eosinophilic Pneumonia

From HealthDay News via MedicineNet: Government Studies Rare Pneumonia Outbreak Among Iraq Troops.

[...] acute eosinophilic pneumonia (AEP), is so rare that the entire medical literature contains only about 150 published accounts of it, according to lead study author Dr. Andrew F. Shorr, chief of the pulmonary clinic at Walter Reed Army Medical Center in Washington, D.C. And none of that literature has accounts of the disease striking in clusters, as it apparently did in Iraq.
There seems to be no explanation for the unusual cluster, which included two deaths, except for one salient fact -- all of the patients were smokers, and nearly all of them were new to the habit.

Fatal Familial Insomnia

A Wired article (Sleep Disorders Traced to Genes) reminded me of Fatal Familial Insomnia (FFI) and introduced me to a sleep disorder, Delayed Sleep Phase Syndrome:

Patients typically are unable to fall asleep before 2 a.m. and have extreme difficulty waking early (e.g., by 7 a.m.). People with DSPS are sometimes called "night owls" or are described as "not being morning people." If they are able to sleep a full 7 to 8 hours (e.g., until 10 a.m.), they feel rested and function normally.

I'm typically unable to get to bed before 2 a.m., but I don't think that qualifies without the accompanying insomnia.

So back to FFI. It's exciting because it's a prion disease like the transmissible spongiform encephalopathies, but it mainly affects the thalamus, leading to insomnia-related death before the rest of the brain is seriously involved. Here's an overview of FFI by Ann M. Akroush.

I also found a couple of interesting journal articles available on-line: Fatal familial insomnia- clinical, neuropathological, and genetic description of a Spanish family -- Tabernero et al. 68 (6)- 774 -- Journal of Neurology, Neurosurgery, and Psychiatry (full text), and an abstract of Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation -- Chapman et al. 46 (3)- 758 -- Neurology.

Nontuberculous Mycobacteria

Some San Jose residents have gotten more than they bargained for from their pedicurists. The Bay City News reports on at least 40 cases of serious skin infections, probably caused by nontuberculous mycobacteria growing in whirlpool foot baths. Whirlpools are bad news in general, bacteriologically speaking; once you add in the natural nastiness of feet, trouble is bound to follow.

C. difficile

Medbroadcast reports on a Clostridium difficile epidemic in Quebec that has killed 109 to 217 people. CBC reports that the C. difficile superbug is likely to spread beyond Quebec.

Clostridium difficile is a bacterial infection common in hospitals; what makes the Canadian epidemic unique is its virulence, the lack of private rooms for isolating patients, and the speculation that hospital workers are helping to spread the spores by not washing their hands. Here's another FAQ on Clostridium difficile.

Lymphogranuloma venereum

The CDC is concerned about Lymphogranuloma venereum (LGV), a rare STD currently spreading among homosexual men in Northern Europe, especially the Netherlands. CNN has the Reuters story.

Simian Foamy Virus

Canadian health authorities seem unduly concerned about simian foamy virus, a blood-borne retrovirus that has no known effects in any species.