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Can We Diagnose Autoimmune Disease Via Gene Expression Analysis?

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It’s a pleasure to share the great news that we just published our review in Trends in Molecular Medicine under the title, Gene expression profiles in peripheral blood for the diagnosis of autoimmune diseases. We looked at the literature and wrote about whether peripheral blood can be used for the diagnosis of autoimmune diseases or the prediction of the effectiveness of therapies. We also came up with a decision tree and a set of proposed guides in order to facilitate inter-disciplinary collaborations.

The paper is not publicly available, but if you are interested, I’d be happy to send it to you via e-mail.

Gene expression profiling in clinical genomics has yet to deliver robust and reliable approaches for developing diagnostics and contributing to personalized medicine. Owing to technological developments and the recent accumulation of expression profiles, it is a timely and relevant question whether peripheral blood gene expression profiling can be used routinely in clinical decision making. Here, we review the available gene expression profiling data of peripheral blood in autoimmune and chronic inflammatory diseases and suggest that peripheral blood mononuclear cells are suitable for descriptive and comparative gene expression analyses. A gene-disease interaction network in chronic inflammatory diseases, a general protocol for future studies and a decision tree for researchers are presented to facilitate standardization and adoption of this approach.


*This blog post was originally published at ScienceRoll*

NLM Launches Mobile-Friendly PubMed Search App

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Recently, we reviewed six medical apps for the iPhone and iPad that promised mobile PubMed searches — an essential functionality since the PubMed.gov website is extremely difficult to view on a smart phone. As of last week, this is no longer the case. The U.S. National Library of Medicine (NLM) just launched a mobile friendly version of PubMed.gov last week.

The Web App they have created is currently in beta, and as of this publish date, if you go to PubMed.gov on your smart phone’s browser you will still be directed to the original non-mobile friendly website. However, if you point your phone’s browser to the following URL, http://www.ncbi.nlm.nih.gov/m/pubmed/, you are presented with the mobile version of the site.

The National Library of Medicine states the significant increase in mobile browsing for medical content is one of the key reasons they released this mobile web app. The folks at the NLM already have a plethora of mobile medical web apps available, such as the recently added MedLine Plus.

Continue on to see pictures of the PubMed app in action. Read more »

*This blog post was originally published at iMedicalApps*

When Less Is More: Smaller Doses Of Chemo May Be Equally Effective In AML

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A recent issue of the New England Journal of Medicine includes an article with the bland title Cytarabine Dose for Acute Myeloid Leukemia. AML is an often-curable form of leukemia characterized by rapidly-growing myeloid white blood cells. Cytarabine — what we’d call “Ara-C” on rounds  — has been a mainstay of AML treatment for decades.

The new report* covers a fairly large, multicenter, randomized trial of adult patients with AML. The researchers, based in the Netherlands, Switzerland, Belgium and Germany, evaluated 860 patients who received either intermediate or high doses of Ara-C in their initial, induction chemotherapy. According to the journal, “this investigator-sponsored study did not involve any pharmaceutical companies.”

The main finding was that at a median follow-up of 5 years there were no significant differences between the groups in terms of complete remission rates, relapses or overall survival. The high-dose Ara-C offered no clear advantage in any prognostic subgroup, including those with genetic changes that bear a poor risk. Not surprisingly, Grade 3 and 4 (severe) toxicities were more common in the patients who received higher doses of Ara-C. Those patients also had lengthier hospitalizations and prolonged reduction in their blood counts.

Why am I mentioning this report, besides that it hasn’t received any press coverage? First, because the findings might matter to people who have AML and are contemplating treatment options. But mainly it’s an example of how carefully dialing down some chemotherapy doses could reduce health care costs and lessen untoward effects of cancer therapy — in terms of early toxicities and, possibly down the line, fewer secondary malignancies – without compromising long-term outcomes.

*subscription required: N Engl J Med 364: 1027–36 (2011). The free abstract includes some details on the chemo doses.

*This blog post was originally published at Medical Lessons*

Why You Should Quit Smoking Before Surgery

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Physicians and surgeons all agree on the link between smoking and postoperative complications.  We don’t agree (or know) how much time is required between cessation of smoking and surgery for optimal risk reduction.

Dr.Thomas Fiala wrote a nice blog post, Smoking Cessation and surgical complications, recently  discussing the 3rd reference article below.

Smokers that quit smoking before surgery had 41% fewer complications. The researchers found that each week of cessation increases the effect by 19%.

Trials of at least 4 weeks’ smoking cessation had a significantly larger treatment effect than shorter trials (P = .04).

Smokers that quit had lower rates of total complications, fewer wound healing complications, and fewer pulmonary complications.

Read more »

*This blog post was originally published at Suture for a Living*

Case Report: A Craniopharyngioma In The Prepontine Cistern

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We report a pathologically proved craniopharyngioma in the prepontine cistern. A 50-year-old woman presented with swallowing difficulty for 1 month. She underwent brain MR and CT imaging.

T1-weighted, T2-weighted, and contrast-enhanced T1-weighted images showed a large peripheral enhancing cystic mass in the prepontine cistern. Inside the lesion, high signal intensity (SI) on T1 and low SI on T2-weighted imaging were noted (Fig 1). The CT scan showed features similar to those on the MR images, except for the addition of a peripheral small calcification in the cystic lesion. We could not find any connection between the mass in the prepontine cistern and the sellar or parasellar area. The mass was partially surgically removed, and histopathologic examination revealed craniopharyngioma in the prepontine cistern.

  • Figure 1
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  • Fig 1. A 50-year-old woman with a craniopharyngioma in the prepontine cistern. A, Sagittal T1-weighted image shows a cystic mass in the prepontine cistern. B, Contrast-enhanced T1-weighted sagittal image shows a peripheral enhancing cystic mass in the prepontine cistern. Read more »

*This blog post was originally published at AJNR Blog*

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