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Oct 12, 2018

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The story

Some doctors are better sleuths than others. So while everyone has a hunch about which two staff members are sneaking off to the call room, sometimes it's best to leave the tough cases to the experts.

The mystery

Million dollar workups aside, it's tough to admit when your team just doesn't have an answer. The NIH launched the Undiagnosed Diseases Program in 2008 for patients who remained undiagnosed despite exhaustive workups. Strong early results led the program to expand to 7 sites and become the Undiagnosed Diseases Network (UDN) in 2014. Part clinic and part lab, the UDN mixes subspecialty clinical expertise with gene sequencing, metabolomics, and other high tech maneuvers to find and even create new diagnoses.

The network

The UDN assigned a diagnosis to 35% (132/382) of patients who received a complete evaluation during a 20-month period. Most of the diagnoses were made by genome or exome sequencing, though about 10% were made by clinical review alone. On the whole, 31 new syndromes were identified. The UDN, which is expected to cost the NIH $100 million over the next 4 years, was cheap compared to your typical hospital exhaust-all-possibilities splurge: the average cost of care before program acceptance was $200,000, while the average UDN workup was $15,000.
NEJM

The takeaway

For all its fancy tricks, the UDN relied heavily on bread and butter sequencing. Expect exome and genome sequencing to assume a larger role in clinical practice, especially as prices fall.  

Say it on rounds

When you know just enough to frame a consult question

A little goes a long way. An RCT of 12,000 overweight and obese patients found favorable effects for the appetite suppressant lorcaserin on glucose metabolism. Compared to placebo, lorcaserin patients with prediabetes were 19% less likely to develop diabetes over 1-year follow-up, normoglycemic patients were 23% less likely to develop diabetes, and patients with diabetes at trial onset saw a drop in their A1c of 0.3% and a 21% decrease in diabetic microvascular complications. On average lorcaserin patients lost about 3 kg. 
Lancet

When an afternoon Red Bull keeps you jittery into the night

Watch what you take in. When over 150 patients presented to hospitals in Illinois earlier this year with unexplained bleeding, experts pegged the problem to a "superwarfarin" found in synthetic marijuana. A case series of 34 patients at a single center found that the offending agent brodifacoum was present in 100% of patient samples. INRs at presentation were as high as 20. Treatment with vitamin K controlled bleeding in all patients except one, who died from spontaneous intracerebral hemorrhage.
NEJM

When you last checked your secure health messages months ago

Keeping up with pills isn't much easier. An RCT of 120 high-risk men at a Chicago safety net clinic found that daily pill-taking reminders via a text messaging program called PrEPmate improved adherence as measured by drug levels compared to standard of care. Patients were more likely to attend study visits (86% vs. 71%) and take more than 4 doses / week (72% vs. 57%). PrEPmate also featured trivia, and 92% of the patients said they would recommend the service to others.
Clin Infect Dis

Brush up

Human papilloma virus (HPV)

HPV is the most common sexually transmitted disease, and about half of men and women worldwide will be infected at least once in their lifetime. Infection may be asymptomatic or cause anogenital warts. The virus is notorious for its causative role in cervical and head and neck cancer, though there is hope that vaccination will diminish its impact. Australia, the first country to implement a government-funded nationwide HPV vaccination program, may see near-complete elimination of cervical cancer by 2028.

What's the evidence

For the use of the HPV vaccine in adults over age 26? HPV vaccines were initially approved for patients aged 13 - 26, but about two-thirds of people between ages 27 - 45 are susceptible to infection. A 2011 RCT of 3,800 women aged 25 - 45 found the Gardasil vaccine to be 88% effective against a combined endpoint of persistent infection and HPV-related complications. The FDA approved the Gardasil 9 vaccine for women and men aged 27 - 45 this week.

What your emergency med friends are talking about

"It was like hell" says an anesthesiologist who stuck around a hospital in Panama City during Hurricane Michael. Four hospitals closed amid harrowing evacuation crises. You can donate to Red Cross relief efforts here

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