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he novel  ACMSD  mutation was identified during a genetic screening study of 62 PD patients on the Mediterranean island of Menorca, which were matched with 192 ethnicity-matched neurologically normal individuals with no family history of PD. The study was initiated by investigators Eduardo Tolosa and Dolores Vilas, who are enormously grateful to Dr. Casquero and the "Associació de Malalts of Parkinson of Menorca" for her work on diagnoses and patients' recruitment. Genetic variants found in these individuals were checked against various databases to identify normal variations observed in other populations. While researchers found mutations already associated with PD, they discovered one novel mutation in the ACMSD gene in a single patient with no family history of PD and none of the known PD-related mutations found in other populations. "Our findings suggest that a new mutation in the ACMSD gene could be a risk factor for PD. It could lead to the identification o...

Health Information Exchanges (HIEs), which are typically nonprofit technology companies that make it possible for hospitals and health providers to share medical data, are beginning to show their promised value to the health care system, according to "Reducing Medicare spending through electronic health information exchange: The role of incentives and exchange maturity," forthcoming in  Information Systems Research  by Idris Adjerid and Corey Angst, IT professors in Notre Dame's Mendoza College of Business, and Julia Adler-Milstein of the University of California San Francisco. Many HIEs were created because hospitals needed better ways to exchange medical data. Photocopying, mailing and faxing records were inefficient. The research shows that when HIEs appear in regional markets, there are massive cost savings. For that very reason, there is long-standing interest in implementing HIEs nationally. "We are the first to use nationally representative samples and r...

"Clomiphene citrate ushered in the era of assisted reproduction," wrote Adashi, a professor of medicine at Brown University, in a new paper in  Fertility and Sterility  to mark the drug's 50th anniversary year. "To patients whose only family-building recourse was adoption, clomiphene citrate proved nothing short of life-changing." Still in wide use today, the drug works by modulating estrogen levels in women who are producing too much of the hormone to properly trigger a monthly ovulation cycle. There are many other causes of infertility that require other means to address, Adashi said, but by some estimates there are also millions of people, age 50 and younger, whom Clomid helped to make possible. The World Health Organization lists the drug among the globe's "essential medicines." In the new article, Adashi, who has studied the drug in the lab and the clinic and prescribed it thousands of times over the decades, traces the drug's develo...