Teamwork cures teen of debilitating bone disorder

The high levels of the hormone FGF23, found through venous sampling, near the tumor in Erin Jones leg, helped physicians pinpoint the source of her tumor-induced osteomalacia. With the tumor's removal, Jones is cured of the disorder that made her bones soft and brought her numerous fractures and breaks.

Big things come in small packages. Just ask Erin Jones. The 14-year-old from the state of Washington had a pea-sized tumor to thank for two broken femurs, among multiple other bone fractures.

Jones suffered from tumor-induced osteomalacia, a disorder caused by a benign tumor that produces the hormone FGF23, which affects the metabolism of phosphorus and vitamin D and ultimately bone strength. A small tumor resting on her tibia was removed by an NIH team in August, and Jones is on her way to a full recovery. Almost as impressive as the condition is the fact that doctors were able to find the tumor.

"This was the most challenging and therefore most satisfying case of this disorder we've seen," said Dr. Michael T. Collins, head of the Skeletal Clinical Studies Section of the National Institute of Dental and Craniofacial Research.

Jones first came to see Collins this summer. She had broken one leg at age 11 in a simple bike accident. Her physicians sensed there was something more complex going on, since her accident wouldn't usually cause such an injury. A few months later, her dog jumped into her lap and the chair she was sitting in collapsed. Jones broke her other leg.

"I got out of one cast, got the flu, then got into another cast," she said, remembering that difficult year. In addition to the big breaks, Jones had a dozen small fractures through her body, from her ribs to her feet.

Doctors suspected an underlying skeletal disorder, and when her blood phosphorus level came back low, they thought of tumor-induced osteomalacia.

The disorder is very rare—there are fewer than 200 cases in the medical literature, Collins said—and even more uncommon in children. Complicating the search for a cure for Jones was the nature of the tumors. They are typically very small and can appear anywhere from head to toe, in soft tissue or bone.

Her physicians in Seattle did a positron emission tomography (PET) scan and an octreoscan, which looks for tumors, but couldn't find anything. These tests are very sensitive, and in a patient like Jones with multiple fractures they can "light up like a Christmas tree," Collins said. Deciding which marks on the scan could be the culprit is the difficult part.

While these tumors are always hard to find, Jones's was proving to be a particularly difficult one. Still, Collins agreed to try to help her. His team did more scans when Jones came to the NIH, and through the process of elimination—ruling out symmetrical marks and corroborating the marks with CT and MRI—narrowed the possible trouble spots to only a few. Dr. Clara Chen, deputy chief of the Clinical Center Radiology & Imaging Sciences Nuclear Medicine Section, was instrumental in deciphering which marks had potential and which were misleading, Collins said.

Erin Jones suffered from a debilitating bone disorder caused by a benign tumor until NIH doctors located and removed the tumor, curing her, this summer. She is happy to be back doing the things she loves as a healthy teen.

With an idea of where the tumor may be, next to Jones' right tibia, Collins recruited Dr. Richard Chang, chief of the Endocrine and Venous Services Section in CC Radiology & Imaging Sciences Interventional Radiology Section. Chang threaded a catheter down a vein in Jones' leg and took blood samples at different points to test presence of FGF23. The numbers spiked around the tumor (see scan, page 1).

Jones was at her grandmother's house when Collins called with the news. When she heard they'd found the tumor, she gave her grandmother a thumbs up. "She started screaming, she was so happy," Jones remembered.

Dr. Felasfa Wodajo, medical director of Inova Health System's Musculoskeletal Tumor Program and a consultant to the National Cancer Institute, removed the tumor in August. Recurrence is rare, especially when a large margin of surrounding tissue is removed, as was done with Jones.

She is back in Washington, returning to life as a healthy teen. "I'm back on my swim team, which I really love," she said. "I can walk in the hall without being worried about knocking into something."

Jones is attending her high school's homecoming dance, in low heels, this month.

The end result wasn't due to fancy science, Collins said, just the meticulous, rigorous teamwork that occurs at the CC.

"How often in medicine do you get a chance to really cure someone? That was fantastic."

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Radiology offering mammograms to NIH community

October is National Breast Cancer Awareness Month. NIH staff and contractors will be offered screening mammograms, at no charge, if they are eligible for a standard-of-care protocol from Clinical Center Radiology and Imaging Sciences.

Screening mammograms will be offered on Tuesdays throughout the year to women due for their annual test. Radiology and Imaging Sciences is on the first floor of the Clinical Center.

Women age 40 years or older are eligible for the screening mammograms. Also eligible are women younger than 40 but with more than a 20 percent lifetime risk of developing breast cancer. Increased risk can result from prior thoracic radiation therapy, family history, or genetic predisposition, for example. Pregnant and lactating women are not eligible.

All women interested in having a mammogram at the CC must bring their prior mammograms, if available, for comparison.

The 1992 Mammography Quality Standards Act requires all mammography facilities to be accredited, certified, and inspected. The CC mammography facility is accredited by the American College of Radiology, certified by the FDA, and staffed with dedicated mammography personnel using state-of-the-art mammography equipment.

To take part in the mammography program, contact the CC Office of Communications, Patient Recruitment, and Public Liaison at 1-800-411-1222 or 1-866-411-1010 (TTY).

Staff can visit http://intranet.cc.nih.gov/radiology/mammography_screening.html for more information or contact the mammography team at 301-402-9800.

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Symposium presents challenges and triumphs of transfusion medicine

CC Department of Transfusion Medicine Chief Dr. Harvey Klein presented the 2010 Richard J. Davey Award to Dr. Walter Dzik of Massachusetts General Hospital for his dedication to research and education in transfusion medicine.

The Clinical Center Department of Transfusion Medicine (DTM) hosted the 29th annual Immunohematology & Blood Transfusion Symposium, co-sponsored by the American Red Cross, in Masur Auditorium on September 16. The event is designed to provide attendees with practical information about recent developments, current practices, controversies, and laboratory management issues relative to transfusion medicine.

Kicking things off, Dr. Harvey Alter, chief of clinical studies and associate director for research in the DTM, welcomed participants.

"We're very proud of this symposium," he said. "They've always been widely acclaimed, and we have a good program today, as well."

Dr. Susan Stramer, executive scientific officer at the American Red Cross, presented "Plagues in the Blood Supply? Emerging Infectious Disease Agents du Jour" and listed causes of infectious disease risk, including failure of donor selection, insensitive tests, mutant/variant organisms, and emerging/reemerging agents.

Kathleen Hays, quality assurance leader at The Institute for Transfusion Medicine, came down from Pittsburgh to hear the latest and network with professionals in the field.

"I think the whole thing is a great overview," Hays said, "and it kind of brings everyone together."

Dr. Harvey Alter, chief of clinical studies and associate director for research in the CC Department of Transfusion Medicine, welcomed Immunohematology & Blood Transfusion Symposium attendees on September 16.

The Richard J. Davey Award—given annually to an individual whose contributions have significantly advanced the field of transfusion medicine—was presented to Dr. Walter Dzik, co-director of the Blood Transfusion Service at Massachusetts General Hospital and associate professor of pathology at Harvard Medical School. He was a fellow in the DTM from 1981 to 1983.

"I feel very privileged to join the group who've been recognized by this award," said Dzik.

He went on to give a presentation on cerebral malaria and cytoadherence. Infected red blood cells attach to blood vessels by binding protein pfEMP-1 to the CD-36 antigen. CD-36 is found on platelets, which bond to endothelium (layer of cells in blood vessels), and endothelium itself. The clusters of red blood cells, platelets, and endothelium make blood delivery difficult and can be lethal.

Complicating the connection, CD-36 is also present on monocytes, which swallow red blood cells thereby protecting from dangerous adhesions to endothelium.

After a few unsuccessful attempts, Dzik's group found a way to code for CD-36 on monocytes versus platelets to examine expression in relation to cerebral malaria and outpatient malaria. They are doing so in a clinical study in Uganda.

"There are a lot of obstacles in trying to get to the heart of that matter," Dzik said. "You just have to accept that and keep working toward your intent."

Other presentations during the day-long symposium focused on infectious diseases, blood and drug evaluation, blood usage and monitoring, and application of red blood cell molecular testing.

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Physical therapy collecting medical textbooks for Afghanistan

In recognition of National Physical Therapy Month in October, Clinical Center physical therapists are supporting their counterparts half a world away by organizing a drive for Operation Medical Libraries. The Rehabilitation Medicine Department's Physical Therapy Section will collect medical reference books to send to health-care professionals in Afghanistan throughout October.

"For stabilization in that area it is important for people to have the basics, like good health care, which you can't have without good references and education," said physical therapist Melissa Luhmann.

In Afghanistan, limited access to the Internet renders medical textbooks valuable, but many were destroyed during the Taliban reign (anatomical figures were considered blasphemous). Operation Medical Libraries seeks to shrink the educational gap in areas of the health sciences in developing countries. The grass roots effort was originally founded as Books Without Borders in April 2007 by Valerie Walker, director of the UCLA Medical Alumni Association. Contributions are sent to partnering military who sort and deliver them to the appropriate nearby medical facility or university.

Requested are textbooks published within the last five years in the health sciences fields of dentistry, medicine, nursing, pharmacology, and physical therapy, as well as anatomy and basic science books.

Luhmann said her group wanted to do something charitable to commemorate Physical Therapy Month and felt Operation Medical Libraries contributed to the NIH mission of promoting medical education.

"If you think about the type of violence that happens in those areas—amputations, traumatic brain injury—they need knowledge of physical therapy," Luhmann said.

Donations can be dropped at Rehabilitation Medicine's front desk at 1NE1469. A physical therapist will consider submissions.

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CC sabbatical program focuses on clinical research management

By Virginia Hill Condon

The Clinical Center's Sabbatical in Clinical Research Management program is the beginning of a new vision for America's research hospital. It is one of the first steps in opening the CC's doors to external clinician-scientists and allied health professionals by providing access to the knowledge, expertise, and experience of leaders at the NIH.

The program started accepting applications in 2009 from a limited number of those who are experienced in the world of clinical research but want to learn more about management of a clinical research enterprise. The four participants in the pilot phase of the sabbatical program chose an individualized set of electives and received one-on-one attention from managers, executives, and clinician-scientists. The elective leaders are mainly from the CC, but other educational partners include other NIH institutes and centers, the US Food and Drug Administration (FDA), the HHS Office for Human Research Protections, and the Foundation for the NIH.

Dr. Roman Ivanov traveled from Russia to participate in the Sabbatical in Clinical Research Management for three months this summer. As a researcher at both a biotechnology company and an academic medical center, Ivanov was curious to learn about protocol writing and tracking and patient recruitment, as well as the regulatory aspects of clinical research. Spending a month full-time at the FDA and two months at the NIH developing an ongoing project allowed him to meet his educational goals.

"The program provided me with a unique opportunity to get a better understanding of the infrastructure required for investigator-associated clinical trials and regulatory issues associated with them. I will do my best to share this knowledge with my colleagues and I hope that this will contribute to development of medical science in Russia," Ivanov said.

This is a major goal of the sabbatical program: giving participants hands-on experience in clinical research management so that they may apply what they learn at their home institutions. Opening the CC's doors allows individuals to learn from the science, the management and operations, and the unique circumstances under which we conduct clinical and translational research at the CC.

"This program provides management training to help ensure that medical research programs are safe, ethical, and efficient," said CC Director Dr. John I. Gallin. "The sabbatical will help demystify the complexities of governmental regulatory agencies while providing an opportunity to achieve excellence in clinical research management."

For more information on the Sabbatical in Clinical Research Management and other training opportunities offered by the CC's Office of Clinical Research Training and Medical Education, visit http://clinicalcenter.nih.gov/training.

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NICHD endocrinologist named 2010 Distinguished Clinical Teacher

The 2010 Distinguished Clinical Teacher Award went to an investigator with a "logical and thorough" teaching style, according to the fellows who work with him.

Dr. Jeffrey Baron, chief of the Section on Growth and Development at the National Institute for Child Health and Human Development, was presented the honor at a ceremony on September 8.

"He recognizes his limitations and encourages us to seek answers through the literature or through asking carefully crafted clinical research questions," one fellow wrote in Baron's nomination.

Baron received his medical degree from Southwestern Medical School, University of Texas Health Science Center at Dallas, and did a pediatrics residency at Yale-New Haven Hospital. He came to the NIH in 1986 for a fellowship in pediatric endocrinology at NICHD in the Laboratory of Molecular Genetics and continued as a senior staff fellow in the Developmental Endocrinology Branch of NICHD through 1996. From 1996 to 2004, he was the head of the institute's Unit on Growth and Development and since 2004 has been the Chief of the Section on Growth and Development.

CC Director Dr. John I. Gallin (left) and chair of the CC Clinical Fellows Committee Dr. Joo Song (right) presented Dr. Jeffrey Baron with the 2010 Distinguished Clinical Teacher Award in September.

The Distinguished Clinical Teacher Award has been presented each year since 1985 to an NIH faculty member who demonstrates excellence in mentoring health-care professionals and outstanding contributions to the advancement of clinical research. The recipient is chosen by the Clinical Center Clinical Fellow's Committee and delivers the annual John Laws Decker Memorial Lecture the following summer.

"I would like to specifically thank all of our outstanding clinical staff for their continued commitment to training the next generation of clinical investigators," said CC Director Dr. John I. Gallin.

Also nominated this year were Dr. Alan Decherney (NICHD), Dr. Theo Heller (NIDDK), Dr. Steven Warach (NINDS), Dr. Juan Gea-Banacloche (NCI), and Dr. Susumu Sato (NINDS).

Recent winners include Dr. Tara Palmore, CC deputy hospital epidemiologist (2009); Dr. Richard Childs, senior clinical investigator in the National Heart, Lung, and Blood Institute's Hematology Branch (2008); and Dr. John I. Gallin, CC director (2007).

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Seasonal flu vaccine clinic begins, a must for patient-care staff

The NIH employee seasonal flu vaccine clinic will kick off Monday, October 18. All staff with a valid NIH employee (non-contractor) identification badge will be provided the seasonal flu vaccine free of charge on the seventh floor of the Hatfield Building atrium area or at one of the listed off-site locations.

Vaccinations will be given based on the first letter of employees' last names. Those who show up on the wrong day will be vaccinated, but can expect a longer wait. Please dress appropriately in clothing that will let you quickly expose your upper arm; changing areas will not be available.

The seasonal flu vaccine is mandatory for patient-care staff, including contractors. Those who are unwilling or unable to be vaccinated due to medical contraindications or religious or philosophical objections must sign a declination form explaining the reason. Declination forms can be signed at the vaccine clinic or at the Occupational Medical Service.

This year the vaccine is designed to prevent both seasonal and pandemic H1N1 flu infection.

The seasonal influenza vaccination schedule and more information on the patient-care staff mandate can be found at http://foiltheflu.nih.gov.

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DTM section chief chosen to lead cancer therapy society

Dr. Francesco Marincola's office is covered with photos of the fellows he has mentored over the years, showing his affection for the people he works with and the work they do.

In a time of exciting developments in immunotherapy treatment of cancer, a Clinical Center section chief will begin leadership of an international society dedicated to the field.

Dr. Francesco Marincola, chief of the Infectious Disease and Immunogenetics Section in the CC Department of Transfusion Medicine, was recently elected president of the International Society for Biological Therapies for Cancer (iSBTc). He hopes to support the continued advancement of immunotherapies for malignancies and to increase participation from members outside the United States.
"It's a year where things are really happening in the field," Marincola said. "Being president, you have an ability to influence."

Marincola earned his medical degree cum laude from the University of Milan and his surgery training from Stanford University, where he also completed a postdoctoral fellowship in surgical research. He joined the Surgical Oncology Branch of the National Cancer Institute in 1990 and the CC Department of Transfusion Medicine in 2001.

His research has looked at what makes some people respond to immunotherapies, such as interleuken-2, while others do not. Only about 10 percent of patients see an advanced positive response to such treatment, Marincola said.

He has been a member of iSBTc since 2000 and sat on the board of directors from 2004 to 2007. His tenure begins with two years as vice president before taking the presidency for two years.

The iSBTc held the Symposium on Immuno-Oncology Biomarkers, 2010 and Beyond: Perspectives from the iSBTc Biomarker Task Force in Masur Auditorium on September 30.

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Keyworker inspires her department to participate in the CFC

Delisa Nash works in Nuclear Medicine and took on the role of department keyworker for the Combined Federal Campaign last year. After a successful premiere, she has high hopes for the 2010 season.

The job of Nuclear Medicine keyworker for the Combined Federal Campaign (CFC) wasn't so much an honor as a duty, until Delisa Nash took it on. Usually handed off to the newest person in that section of Radiology and Imaging Sciences, the position went to Nash when she joined the team last year.

The CFC is the annual fundraising drive conducted by federal employees in their workplace each fall. Keyworkers are the link between staff and the Clinical Center CFC team; they answer questions and help complete donation materials. With little to no idea what the campaign was or what responsibilities came with the position, Nash attended the CC keyworker kick-off in September 2009.

A lively presentation from the CC campaign deputy coordinators and information on some of the CFC charities inspired Nash. Still, she had to contend with the negative image some coworkers had about the campaign. They didn't know enough about it or were concerned about donations going to administrative costs rather than those in need, Nash said.

She wrote a letter to her team explaining how they could help a charity that supported a cause they cared for. There was no pressure to donate, she said, but instead her goal was the department's 100 percent participation in the overall campaign.

"If you get people excited about it, they're going to want to contribute," she said. "Organizations are not just trying to raise money. They are also trying to recruit new supporters and raise awareness about issues."

The peer-to-peer communication of her letter was effective, Nash said. She also hung notices of upcoming events, including the Radiology & Imaging Sciences chili cook-off to benefit the CFC. Nash held a breakfast to keep the CFC conversation going and talked to her coworkers about which charities might match their passions.

"I was just there as a guide to help them find what they were looking for, what was meaningful to them and their family," Nash said.

Though her efforts led to a significant increase in CFC participation from the department, Nash sees 2009 as a foundation. She will work as a keyworker again this year to support her goal of 100 percent participation.

For a list of keyworkers by CC department, visit http://intranet.cc.nih.gov/cfc/.

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Clinical Research Training Program gathers best
from across the United States

The 2010-2011 Clinical Research Training Program class of fellows represents universities from coast to coast, pulling medical students from Boston University School of Medicine; Louisiana State University School of Medicine; and the David Geffen School of Medicine at the University of California, Los Angeles, to name a few.

The program—directed by the Clinical Center Office of Clinical Research Training and Medical Education—brings medical and dental students to the NIH campus for 12 months of mentored, clinical or translational research in an area that matches the fellows' personal research interests and career goals.

Applications are accepted from October 1 through mid-January.

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Clinical Center runners speed through the NIH Relay

The 27th NIH Relay on September 23 saw six teams from the Clinical Center running for victory. The race requires five teammates (three men, two women or vice versa) to run a half mile around Building 1, and this year 89 teams registered for their chance at first place. Randy Schools, president of the NIH-NOAA Recreation & Wellness Association, which sponsored the event, shared a quote by Dr. George Sheehan, cardiologist and athlete, with runners in an e-mail. "Without play—without that child still alive in all of us, we will always be incomplete, not only physically, but creatively, intellectually, and spiritually, as well." The best time from a CC team came from Push(1)ng our Gluteus to the Maximus out of the CC Rehabilitation Medicine Department. They came in 10th overall by finishing in 15:47. Running were Lindsey Bellini, Alexandra Gast, Oren Goltzer, Drew Robinson, and Christopher Stanley. The Rehabilitation Medicine Department entered three teams in the NIH Relay: Push(1)ng our Gluteus to the Maximus, Pushing our Gluteus (2) the Maximus, and Pushing our Glut(3)us to the Maximus. The CC Cheetahs entered for the first year with runners from across CC offices. Pictured above are members of these teams.

The Drug Runners from the Clinical Center Pharmacy Department included (from left) Schaun Norman, Thomas Dorworth, Sara Abshari, Jordan Petit, and Rose Pauline.

Cells R Us from the CC Department of Transfusion Medicine Cell Processing Section entered (from left) Luciano Castiello, Angela Pickett, Jean Gildner, Hugo Luizaga Diaz, and Thai Truong.

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Volunteer with NIH at the USA Science Festival

On October 23 and 24, NIH will join more than 400 of the nation's leading science and engineering organizations in a two-day celebration of science for families on the National Mall and on Freedom Plaza in downtown Washington, DC.

The USA Science and Engineering Festival is designed to provide fun and interactive science activities for kids of all ages and their families. Many NIH institutes and centers will be hosting hands-on activities to stimulate interest in a range of topics that include science careers, the brain, clinical research, nanotechnology, and imaging.

Consider attending and helping out. The festival is free and open to the public. Bring your family to the NIH exhibit booths, see NIH Director Dr. Francis Collins on the main stage on Sunday, or volunteer. NIH staff are needed to help set up, provide logistical support throughout both days, and take down the exhibits.

For more information about serving as an NIH volunteer at the USA Science and Engineering Festival and to sign up, visit: http://science.education.nih.gov/SciFest-Volunteers.

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New clinical research protocols

The following are a sample of new clinical research protocols approved in August:

• Apheresis and CD34+ Selection of Mobilized Peripheral Blood CD34+ Cells from Patients with DOCK8 Deficiency, LAD-1, and MonoMAC, 10-C-0201, Dennis D. Hickstein, M.D., NCI
• Microplasmin Intravitreal Administration in Participants with Uveitic Macular Edema, 10-EI-0186, Theresa A. Larson, M.D., NEI Quality of Life and Neuropsychiatric Sequelae in Patients Treated with Gene Therapy for ADA-SCID and in their Parents, 10-HG-0151, Robert A. Sokolic, M.D., NHGRI
• Cyclophosphamide Plus Cyclosporine in Treatment-Naïve Severe Aplastic Anemia, 10-H-0176, Phillip Scheinberg, M.D., NHLBI Training Protocol on the Natural History of Tuberculosis, 10-I-0195, Steven M. Holland, M.D., NIAID
• A Pilot Study of XOMA 052 in Familial Cold Autoinflammatory Syndrome (FCAS) / Muckle-Wells Syndrome (MWS) and Behcet's Disease (BD), 10-AR-0182, Cailin C. Henderson, M.D., NIAMS
• Testing and Calibration of Non-Invasive Optical Imaging Technology for Functional Brain Imaging, 10-CH-0198, Amir Gandjbakhche, Ph.D., NICHD
• A Pilot Trial Targeting mTOR as a Novel Mechanism-Based Neoadjuvant Therapy for Head and Neck Cancer, 10-D-0180, J. Silvio Gutkind, Ph.D., NIDCR
• Duration of Long-term Immunity After Hepatitis B Virus Immunization, 10-DK-0187, Marc G. Ghany, M.D., NIDDK
• An Exploratory Study of the Characteristics of and Challenges for International Families Seeking Medical Care in the United States, 10-M-0192, Maryland Pao, M.D., NIMH
• Neural Dynamics and Connectivity in Response Inhibition and Traumatic Brain Injury, 10-N-0185, Leonardo G. Cohen, M.D., NINDS

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Clinical Center Grand Rounds

Lipsett Amphitheater, 12 noon
Lectures will be videocast at http://videocast.nih.gov.

October 13
Contemporary Clinical Medicine: Great Teachers
Molecular Approaches for Preventing Opportunistic/Health Care-Associated Infections
John E. (Jack) Edwards, Jr, MD
Chief, Division of Infectious Diseases
Harbor/UCLA Medical Center
Professor of Medicine, David Geffen School of Medicine at UCLA

October 20
Ethics Rounds
What Defines Death?
James Bernat, MD
Professor of Neurology and Medicine, Dartmouth Medical School
Director, Program in Clinical Ethics, Dartmouth-Hitchcock Medical Center

Jefferson McMahan, PhD
Professor of Philosophy, Rutgers University

Robert M. Veatch, PhD
Professor of Medical Ethics, Kennedy Institute of Ethics, Georgetown University

October 27
John Doppman Memorial Lecture for Imaging Sciences
The Evolution of PET: Images of Progress
Carolyn Cidis Meltzer, MD
William P. Timmie Professor and Chair of Radiology
Associate Dean for Research
Director, Emory Center for Systems Imaging
Emory University School of Medicine

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This page last updated on 12/18/2017