Genetic screening to find ‘silent carriers’ of adrenal Cushing’s syndrome

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The University of Montreal is officially known as Université de Montréal.

Professor André Lacroix., M.D., is with a professor at the Department of Medicine at Université de Montréal’s Faculty of Medicine and the Centre Hospitalier de l’Université de Montréal Research Centre, where he is head of the Endocrine Pathophysiology Laboratory.

André Lacroix, M.D., Heredity and Cortisol Regulation in Bilateral Macronodular Adrenal Hyperplasia, New England Journal of Medicine 369;22, November 28, 2013

Estelle Louiset, Ph.D., Céline Duparc, Ph.D., Jacques Young, M.D., Ph.D., Sylvie Renouf, Ph.D., Milène Tetsi Nomigni, M.Sc., Isabelle Boutelet, Ph.D., Rossella Libé, M.D., Zakariae Bram, M.Sc., Lionel Groussin, M.D., Ph.D., Philippe Caron, M.D., Antoine Tabarin, M.D., Ph.D., Fabienne Grunenberger, M.D., Sophie Christin-Maitre, M.D., Ph.D., Xavier Bertagna, M.D., Ph.D., Jean-Marc Kuhn, M.D., Youssef Anouar, Ph.D., Jérôme Bertherat, M.D., Ph.D., and Hervé Lefebvre, M.D., Ph.D., Intraadrenal Corticotropin in Bilateral Macronodular Adrenal Hyperplasia, New England Journal of Medicine 369;22, November 28, 2013

Guillaume Assié, M.D., Ph.D., Rossella Libé, M.D., Stéphanie Espiard, M.D., Marthe Rizk-Rabin, Ph.D., Anne Guimier, M.D., Windy Luscap, M.Sc., Olivia Barreau, M.D., Lucile Lefèvre, M.Sc., Mathilde Sibony, M.D., Laurence Guignat, M.D., Stéphanie Rodriguez, M.Sc., Karine Perlemoine, B.S., Fernande René-Corail, B.S., Franck Letourneur, Ph.D., Bilal Trabulsi, M.D., Alix Poussier, M.D., Nathalie Chabbert-Buffet, M.D., Ph.D., Françoise Borson-Chazot, M.D., Ph.D., Lionel Groussin, M.D., Ph.D., Xavier Bertagna, M.D., Constantine A. Stratakis, M.D., Ph.D., Bruno Ragazzon, Ph.D., and Jérôme Bertherat, M.D., Ph.D., ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing’s Syndrome, New England Journal of Medicine 369;22, November 28, 2013

University of Montreal

FDA approves Nexavar to treat type of thyroid cancer

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FDA approves Nexavar to treat type of thyroid cancer

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The U.S. Food and Drug Administration has expanded the approved uses of Nexavar (sorafenib) to treat late-stage (metastatic) differentiated thyroid cancer.

Thyroid cancer is a cancerous growth of the thyroid gland, which is located in the neck. Differentiated thyroid cancer is the most common type of thyroid cancer. The National Cancer Institute estimates that 60,220 Americans will be diagnosed with thyroid cancer and 1,850 will die from the disease in 2013.

Nexavar works by inhibiting multiple proteins in cancer cells, limiting cancer cell growth and division. The drug’s new use is intended for patients with locally recurrent or metastatic, progressive differentiated thyroid cancer that no longer responds to radioactive iodine treatment.

“Differentiated thyroid cancer can be challenging to treat, especially when unresponsive to conventional therapies,” said Richard Pazdur, M.D., director of the Office of Hematology and Oncology Products in the FDA’s Center for Drug Evaluation and Research. “Today’s approval demonstrates the FDA’s commitment to expediting the availability of treatment options for patients with difficult-to-treat diseases.”

The safety and effectiveness of Nexavar were established in a clinical study involving 417 participants with locally recurrent or metastatic, progressive differentiated thyroid cancer that does not respond to radioactive iodine treatment. Nexavar increased the length of time patients lived without the cancer progressing (progression-free survival) by 41 percent. Half of patients receiving Nexavar lived without cancer progression for at least 10.8 months compared to at least 5.8 months for participants receiving a placebo.

The most common side effects in patients treated with Nexavar were diarrhea, fatigue, infection, hair loss (alopecia), hand-foot skin reaction, rash, weight loss, decreased appetite, nausea, gastrointestinal and abdominal pains and high blood pressure (hypertension). Thyroid stimulating hormone, a potential promoter of thyroid cancer, is more likely to become elevated while on treatment with Nexavar, requiring adjustment of thyroid hormone replacement therapy.

The FDA completed its review of Nexavar’s new indication under its priority review program. This program provides for an expedited, six-month review for drugs that may offer a significant improvement in safety or effectiveness of the treatment, prevention or diagnosis of a serious condition. Nexavar also received orphan-product designation by the FDA because it is intended to treat a rare disease or condition.

The FDA approved Nexavar to treat advanced kidney cancer in 2005. In 2007, the agency expanded the drug’s label to treat liver cancer that cannot be surgically removed.

Nexavar is co-marketed by Bayer HealthCare Pharmaceuticals Inc., based in Wayne, N.J., and Onyx Pharmaceuticals, based in South San Francisco, Calif.

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Identification of new genetic cause of Warburg Micro syndrome

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A collaborative team of researchers led by researchers at the Medical College of Wisconsin and the University of Edinburgh has identified a gene responsible for Warburg Micro syndrome, a rare genetic disease characterized by eye, brain and endocrine abnormalities. Patients with Warburg Micro syndrome are severely physically and mentally challenged, unable to learn how to walk or speak and become blind and paralyzed from an early age.

The findings are published in The American Journal of Human Genetics. Lead co-authors are Ryan Liegel, Ph.D., postdoctoral student in cell biology, neurobiology and anatomy at the Medical College of Wisconsin; and Mark Handley, Ph.D., postdoctoral researcher at the University of Edinburgh. Corresponding author is Duska J. Sidjanin, Ph.D., associate professor of cell biology, neurobiology and anatomy and member of the Human and Molecular Genetics Center at the Medical College of Wisconsin.

In this study, the researchers became interested in a gene called TBC1D20, which is known to cause blindness and sterility in mice, because of that similar phenotype. The research team evaluated a cohort of more than 70 families with Warburg Micro syndrome, and found five distinct loss-of-function mutations in TBC1D20, thus establishing those mutations as a cause of the disease.

“These findings have implications not only for families affected with Warburg Micro syndrome, but also provide novel information about the genes and molecular pathways essential for human development that is relevant for more common developmental disorders such as epilepsy and autism,” said Dr. Sidjanin.

The four genes do not comprise the full causative picture for Warburg Micro syndrome; in about half of the cases, the causing mutation was in none of those genes, which means there are additional novel genes contributing to the disease.

The researchers plan to continue to search for additional genes, and will also model the disease in tissue cultures with a hope of understanding the underlying molecular and cellular events in which TBC1D20 is involved.

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Scientists study factors influencing intestinal microbes

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Scientists study factors influencing intestinal microbes

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Study results from Texas A&M University and University of North Carolina School of Medicine scientists on the effect of diet complexity and estrogen hormone receptors on intestinal microbiota has been published in the journal Applied and Environmental Microbiology.

To date, research has shown that promoting the growth of certain beneficial intestinal microorganisms can help to improve overall health.

“In this study, we wanted to determine if steroid hormone nuclear receptors, specifically estrogen receptor beta, affect the composition of intestinal bacteria,” said Dr. Joseph Sturino, lead researcher in the nutrition and food science department at Texas A&M’s College of Agriculture and Life Sciences, College Station.

“Some steroid hormones, like estradiol, and dietary phytoestrogens are known to influence the development of chronic gastrointestinal inflammation and estrogen-responsive cancers of the breast, prostate and colon,” Sturino said.

Some of these effects are the result of differential and tissue-specific gene regulation by estrogen receptor beta, Sturino said. That aspect of the study was the focus of the lab work performed by Dr. Clinton Allred, also in the college’s nutrition and food science department and a collaborator on the published study.

They hypothesized that some estrogenic regulatory signals are mediated, in part, by the activity of microorganisms present in the gut and that diet modification can be used to change those.

In order to investigate the effects of both receptors and diet on intestinal microorganisms, the scientists initially raised female mice on a fiber-rich diet containing plant-derived estrogenic compounds called isoflavones, comprising a complex diet. The animals were then fed an isoflavone-free diet that was rich in highly refined sugars for two weeks, comprising a simple diet. The composition of the fecal bacteria was surveyed over the course of the study.

“As you might expect, significant differences were found between the fecal microorganisms of mice fed a biochemically complex diet containing isoflavones and those that were fed a simple diet that lacked isoflavones,” he said. “Interestingly, however, we also found that the microorganisms differed between mice that expressed estrogen receptor beta and those that did not.”

Distinct patterns for Lactobacillales were exclusive to and highly abundant among mice fed a complex diet containing isoflavones, Sturino explained.

“Some Lactobacillales have probiotic function when taken in adequate numbers in food or dietary supplements, so indigenous species might also act to promote gut health,” he said.

In contrast, he noted, the relative diversity of Proteobacteria increased significantly following the transition to the simple, isoflavone-free diet. Proteobacteria includes a number of species commonly associated with intestinal disease, including Escherichia, the “E” in E. coli O157:H7, and salmonella.

These and other study results demonstrated that steroid receptor status and diet complexity might play important roles in microbiota maintenance, Sturino said.

“While the balance and content of microorganisms in the gut changes as we age, we are only now learning how our genetics and dietary choices affect our health by modifying the composition and activity of these microorganisms,” he said.

In the long term, Sturino believes that this study will aid in the development of novel probiotics, prebiotics, nutritional strategies and pharmaceuticals to improve overall health by promoting the growth and activity of beneficial intestinal microorganisms.

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Weight reduced and blood sugar improved by new multiple action intestinal hormone

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Discovery of new appetite-increasing mechanism

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Gene expression test clarifies thyroid biopsies

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Each year, tens of thousands of patients with thyroid nodules have surgery to remove all or part of their thyroids due to results that are indeterminate yet raise suspicions of thyroid cancer. Ultimately, most of these nodules prove benign. Increasingly, indeterminate nodules in the United States are being evaluated with a new molecular diagnostic test that measures the expression levels of 142 genes. This test is able to identify which initially indeterminate nodules are highly likely to be benign, and thus allow patients to avoid unnecessary diagnostic surgery.

Now, data from a new long-term, multicenter study confirm the accuracy of molecular diagnostic test in identifying benign thyroid nodules. The findings further support physicians’ decision to avoid diagnostic surgery on such patients and monitor them instead – and suggest that this change in clinical practice is occurring. The findings appear online in the Journal of Clinical Endocrinology & Metabolism and were presented at the 83rd Annual Meeting of the American Thyroid Association in San Juan, Puerto Rico.

“These longer-term findings build on our previous study published last year in NEJM which should further reinforce physicians’ confidence in making the decision to conservatively monitor patients with benign gene expression test results, rather than directing them to surgery,” said Erik Alexander, M.D., lead author of the study and a physician-researcher in the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital.

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Recurrence of thyroid cancer ‘could be predicted’ with microRNAs

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Recurrence of thyroid cancer ‘could be predicted’ with microRNAs

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New research has found that measuring sections of genetic material within papillary thyroid cancer tumors could predict the chance of recurrence following surgery. This is according to a study published in the journal Cancer.

Researchers from Australia say they also discovered that elevated blood levels of this genetic material, known as microRNAs, could also indicate an increased chance of recurrence after thyroidectomy – the surgical removal of all or part of the thyroid gland.

Previous research has shown that abnormalities in microRNAs – short segments of genetic material that regulate gene expression – may play a part in the development of cancer. The researchers say that microRNA “signatures” can be used to determine different types of thyroid tumors.

MicroRNAs ‘noninvasive marker’ of thyroid cancer

For their study, the researchers analyzed tumor tissue from patients with papillary thyroid cancer and multinodular goiter – lumps on the thyroid glands.

Their findings showed that high levels of two microRNAs found in tumor tissue – microRNA-222 and -146b – suggested that the cancer was more likely to recur in patients after their tumors had been surgically removed.

When testing the blood of thyroid cancer patients, the researchers found that high levels of the same two microRNAs were present. However, the levels of these two microRNAs reduced to normal levels following thyroidectomy.

Explaining their findings, the researchers say:

“In this study, we identified tumor miR-222 and miR-146b as strong predictors of PTC (papillary thyroid cancer) recurrence, and they may be useful in guiding adjuvant therapy and surveillance intensity.

Circulating levels of the same miRNAs also were correlated with the presence of PTC and MNG (mutinodular goitre). Therefore, these are potential, noninvasive markers of PTC recurrence to be used in the context of thyroid cancer surveillance.”

Potential for new thyroid cancer blood tests

Dr. James Lee of the Kolling Institute of Medical Research and the University of Sydney explains that results may help doctors select which patients with thyroid cancer may benefit from more aggressive additional treatment or closer monitoring following surgery.

“As most patients with papillary type thyroid cancer do very well with standard treatment,” he adds, “we are always working on ways to help us select the small group that do not fair so well so we can use our medical resources more efficiently and minimize interruptions to patients’ lives.”

Furthermore, Dr. Lee says that the elevated levels of the two microRNAs found in the blood of thyroid cancer patients suggests that doctors could test for the presence of thyroid cancer using a microRNA blood test.

Although there is already a blood test available that can detect thyroid cancer, Dr. Lee says that the results are inaccurate in up to 25% of patients as a result of interference from the patients’ antibodies, among other factors.

“Therefore, an alternative blood test measuring microRNA levels would be a great complement to what is already available,” he adds.

The researchers say that further studies are needed to find out whether blood levels of microRNA-222 and -146b increase when cancer recurs. They add that they also need to improve the accuracy of both tests before they go to clinical trials.

Written by Honor Whiteman

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