Mount Sinai Advances Research into Diabetes and Heart Disease

Valentin Fuster, MD, PhD, Director of Mount Sinai Heart, presented landmark research on diabetes and heart disease at the American Heart Association (AHA) Scientific Sessions 2012. During the conference, the AHA also honored Dr. Fuster with its 2012 Research Achievement Award for his many significant contributions to cardiovascular medicine.

“With a laser-like focus on translational research, Dr. Fuster has added greatly to our understanding of the pathogenesis of coronary artery disease and thrombosis,” says AHA President Donna Arnett, PhD, MSPH. “Among his laboratory’s provocative advancements in medical science are numerous ‘firsts,’ including the original understanding of the role of platelets in heart disease and the revelation that plaque composition plays a crucial role in propensity for a heart lesion to rupture.”

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Study Finds Food-Allergic Children Subject to Bullying

Children with food allergies are frequently bullied by classmates but experience less psychological distress when their parents are aware of it, according to researchers at The Mount Sinai Medical Center, who surveyed 251 families during their visits to Mount Sinai’s Jaffe Food Allergy Institute in 2011.

The study—published online in the December 24, 2012, issue of Pediatrics—found that as many as 45.4 percent of the children, ages 8-17, reported being bullied, and 31.5 percent reported that food allergy was the reason.

“Parents and clinicians need to ask children with food allergies if they have been bullied,” says the study’s lead author Eyal Shemesh, MD, Chief of the Division of Behavioral and Developmental Health in the Department of Pediatrics at The Mount Sinai Medical Center. “Bullying is prevalent. Kids often don’t tell their parents, and it is important to know this is an issue.”

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Ultraportable Ultrasound Introduced to Medical Education Curriculum

Ultraportable Ultrasound Device made available to Icahn School of Medicine students and trainees

This article was written by Alexa Mieses, a first-year medical student, and first published in The Rossi: Medical Student Quarterly Report.

Icahn School of Medicine at Mount Sinai is known for innovation within the realms of patient care, research, and medical education. Training future physicians requires a commitment to progress, and the newest addition to the medical school’s curriculum is no exception: In the spring of 2013, handheld ultrasound will be introduced to enhance students’ and trainees’ clinical skills and generation of a differential diagnosis by reinforcing anatomic and physiologic principles.

Unlike traditional ultrasound, bedside ultrasound is performed at the point of care, not in an imaging suite. Handheld ultrasound – an even more recent technology – is small enough to fit in the palm of a hand, with a screen roughly the size of a smart phone.  Compared to traditional ultrasound, these devices are more portable and less expensive, although the quality of image may be compromised.

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Dystonia Researchers Discover New Gene

A team of researchers at The Mount Sinai Medical Center and elsewhere recently discovered a causative gene for primary torsion dystonia (PTD), which sheds light on the genetic underpinnings of this debilitating movement disorder that affects an estimated 500,000 adults and children in North America. PTD is characterized by repetitive twisting muscle contractions throughout the body.

Drs. Laurie Ozelius and Tania Fuchs

The findings—which appear in the December 9, 2012, issue of Nature Genetics—identified the gene GNAL after exome sequencing was performed on two families with PTD. Further investigation into GNAL revealed six additional mutations of the gene. Exome sequencing is an effective, less expensive alternative to whole genome sequencing.

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Helping Far, Helping Near

When yet another team sets off from the Department of Obstetrics, Gynecology and Reproductive Science for some remote location in Africa or Central America, its thoughts are on how to provide the superior standard of care, considered to be the routine at home, to women in drastically resource poor settings.  Upon returning, what our teams often realize is that the tremendous expertise they develop in these countries is the very thing that makes them the experts in their own fields at home.  Fistula repair is the perfect example of this.

“Obstetric fistula is a tremendous problem in sub-Saharan Africa,” says Charles Ascher-Walsh MD, Assistant Professor, Director of Gynecology and Urogynecology, Department of Obstetrics, Gynecology and Reproductive Science.  “In many countries there is very little maternal health care and, as a result, maternal mortality rates top 1% in some of these countries.  These rates are unfathomable in the United States.”  If a woman is lucky enough to survive childbirth, the rates of developing some type of post-partum fistula vary between 2 to 5 per thousand births.  This equates to between 50,000 and 100,000 new cases of vesico-vaginal fistula in West Africa alone every year.  These women, constantly drenched in their own urine, become social outcasts and live a life of physical and social misery.  This problem, however, often has a surgical cure that can reinstitute these women into society.

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Personalized Medicine: Will DNA Sequencing Improve Your Cancer Treatment?

Personalized Medicine is a rapidly evolving approach to patient care that incorporates an individual’s genetic information into a customized prevention or treatment plan.  Mapping a person’s total genetic makeup or whole genome sequencing has created mountains of data about variations in our human genetic code.  As this experience has grown, some of these variations have been linked to risks for certain diseases, or in some cases the likelihood that a person will respond to a particular treatment.  Individuals may now submit a DNA sample and obtain their genetic sequence with accompanying risk association analysis for a few hundred dollars.  Can this technology however be harnessed to drive better outcomes for patients diagnosed with cancer?  Many clinicians and scientists argue that we are not there yet.

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