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Scroll below for sample articles which appeared in Pulse Magazine, the magazine of New Jersey Medical School.
It's a case of alarming arithmetic. Over a span of years, a group of small, individual medical factors grow at the same time -- until their sum equals serious health consequences. The phenomenon, known as metabolic syndrome, significantly raises the risk of cardiovascular disease and death. It affects an estimated 25 percent of American adults today (40 percent of adults over 40), and has become a galloping national health problem. "Put all the factors of metabolic syndrome together, and we're talking about a two- or three-fold increase in risk for heart attack or stroke, and a five-fold increase in risk for development of diabetes. Yet we're probably not diagnosing it as much as we should," says David Bleich, MD, associate professor of medicine at New Jersey Medical School (NJMS) and chief of the Division of Endocrinology, Diabetes, and Metabolism at UMDNJ--University Hospital. Recent "Consensus Recommendations from an Expert Panel," commissioned by the New Jersey Academy of Family Physicians, are helping to change that, as well as focusing clinicians on maximizing quality of care.
Labeling a Dangerous Condition
Patients with at least three of these factors have metabolic syndrome. "The prime driver of the syndrome is intra-abdominal obesity," explains Bleich, who served on the expert panel that wrote the new guidelines. "Fat in the abdomen is very metabolically active. It produces a multitude of toxic substances that go beyond cholesterol and triglycerides, including cytokines, which play an important role in regulating blood vessels and insulin sensitivity, and directly affect the stickiness of the blood,"
There may be a genetic predisposition to metabolic syndrome. Latinos and Native Americans are at very high risk for obesity and diabetes. Even Asian populations are at high risk in certain respects. "They have never been challenged by fast foods and other high-fat, high-sugar food sources. now that's changing and they don't have to weigh as much as other groups to have alarming amounts of intra-abdominal fat," says Bleich.
Addressing a Debate
"Labeling a patient with metabolic syndrome focuses clinicians on the big picture. it sensitizes them to the fact this person has a high risk for cardiovascular disease or diabetes, and needs more intensive treatment. High triglycerides (or mild hypertension or elevated blood sugar) might not raise a red flag individually, but look at them together and you see a serious problem," says Bleich.
Labeling also helps physicians send a stronger, more motivating message to patients, according to Mark S. Johnson, MD, professor and chair of the NJMS Department of Family Medicine. "If you clump obesity, high blood pressure, insulin resistance and high lipids together (and they often do occur together), rather than view them as four different problems you have to take care of, you can talk to patients differently. you can tell them, "We need to team up and work together to achieve total cardiac wellness -- because if you don't do your part, you will have a much higher risk for heart disease or death," says Johnson, who also served on the guidelines panel.
At UMDNJ, physicians quantify that risk for individual patients with a new tool called a cardiac risk calculator. In a typical scenario, a patient comes in for a checkup after getting new health insurance. She's 55, 5'3" tall, a and weighs 170 pounds. Her blood pressure is 160/90; the bulk of her fat is around the waist. Bloodwork discloses that her blood sugar is 200; cholesterol is 245; HDL cholesterol is 39, and LDL cholesterol is 170.
"She walks into your office feeling fine. By the time you've completed your evaluation, you find she has hypertension, very high cholesterol, central obesity and probably diabetes -- the major components of metabolic syndrome," says Johnson.
"When you plug her age, blood pressure, cholesterol, etc., into the calculator, you can estimate her risk of heart attack in the next 10 years. The patient above has a 24 percent chance of having one. Then you can recalculate the risk if she gets her cholesterol down to 180 (18 percent) or her blood pressure down to 130 (13 percent). Do this in front of patients, and it's a powerful motivator. It also provides visible targets to aim for," adds Johnson.
The NJMS Department of Family Medicine has a grant to train 100 physicians in the community to use the calculator, which is available as a computer program, as well as other evidence-based tools available on a PDA. Software for the online coronary heart disease risk calculator can be downloaded from this link: www.intmed.mcw.edu/clincalc/heartrisk.html. Software can also be downloaded from the NIH Web site: www.nhlbi.nih.gov/guidelines/cholesterol.
Treatment and Prevention
"Two studies have found that lifestyle intervention is very effective in slowing progression of Type 2 diabetes through a combination of increased physical activity and moderate weight loss of 5 to 7 percent of body weight," says Michelle Wien, DrPH, RD, assistant professor, SHRP Department of Primary Care, Graduate Programs in Clinical Nutrition.
She notes, however, that quality of calories is just as important as quantity. "We're finding, for example, that reducing carbohydrates and increasing the 'good' fats -- monounsaturated fats such as olive oil, peanuts and peanut oil, almonds and avocados -- can be a viable strategy for patients with high triglyceride levels."
Smoking cessation is also key. Medications are important, too, such as baby asprin for those with higher heart attack risk, statin drugs to lower cholesterol and reduce inflammation in blood vessels and in some cases oral diabetes medications.
"We'd like to intervene before people get to the point where they have metabolic syndrome," says Johnson. "We want to stop patients, especially young patients who don't yet have dangerous numbers, from getting too big. Because people eat more and exercise less, we're seeing diabetes, hypertension and high cholesterol at younger ages."
The High Cost of an Efficient Society
"Obviously there are things we have to do to change this reality, starting with educating our children on proper nutrition and exercise. Over many years, small changes such as taking the stairs instead of an elevator, going out for a walk after dinner, leaving a small portion of every meal uneaten or reducing portion size, can lead to dramatic improvements in obesity, metabolic syndrome and diabetes. If we can adopt these ideas as a society, we can begin to shift the pendulum toward healthier lifestyles and better health outcomes." ●
The Almond Study At UMDNJ
In January 2006, recruitment will begin for a new study at UMDNJ, "The Metebolic Effects of Almonds in Patients with Pre-Diabetes." Funded by a $212,000 grant from the Almond Board of California, the research will examine whether consumption of 20 percent of daily calories from almonds can prevent or slow the development of diabetes. For example, a subject who consumes 1,500 calories a day will eat 300 of those calories in almonds (1-1/2 - 2 oz.). Studies already show that dietary and other intensive lifestyle intervention is better at preventing diabetes than pharmacotherapy.
"We want to see if almond consumption decreases subject' risk of developing diabetes. We will also look to see whether almond consumption decreases C-reative protein and overall cardiovascular risk," says Michelle Wien, DrPH, RD, the study's lead investigator. Bleich is co-investigator, along with Maya Raghuwanshi, MD, associate professor of medicine, Division of Endocrinology, Diabetes and Metabolism, NJMS Department of Medicine, Riva Touger-Decker, PhD, RD, associate professor and program director of graduate programs in clinical nutrition, UMDNJ-School of Health Related Professions (SHRP); Barbara Greenberg, PhD, associate professor and director of research epidemiology, quality improvement and evaluation, UMDNJ-New Jersey Dental School; and Julie O'Sullivan Maillet, PhD, RD, professor and chair of SHRP's Department of Primary Care.
Study participants with elevated blood sugar will be recruited from The University Hospital and from students and employees at UMDNJ. For more information call Michelle Wein, DrPH, RD, at 973-927-9487 or David Bleich, MD, at 973-972-6170.
Neurofibromatosis is a "Common, Uncommon" Disease affecting all age groups. Because the condition is so complex, it may need to be followed by a wide range of specialists.
The Neurofibromatosis Center of New Jersey at UMDNJ-University Hospital, a multidisciplinary program of 19 physicians, is co-directed by Allen H. Maniker, MD, Beth A. Pletcher, MD, and Stephen S. Kamin, MD.
"All the specialists familiar with the disease are located under one roof. Our team approach improves communication and coordination among physicians and makes care more convenient for patients," says Maniker, who is an associate professor of neurological surgery at UMDNJ-New Jersey Medical School (NJMS).
Using advances diagnostic technology and surgical techniques, as well as genetic counseling, the Center is a comprehensive resource in the state for this chronic genetic disorder.
Two Variations of a Not-So-Rare Condition
Because neurofibromatosis potentially affects so many different areas of the body and varies widely in symptoms and severity, at any one time a patient may need a neurologist, neurosurgeon, geneticist, ophthalmologist, otolaryngolologist, dermatologist, spine surgeon, or other specialist. The Neurofibromatosis Center of New Jersey provides an optimum model of care.
NF1 Most Common
Rarer, but much more serious, are plexiform tumors, which grow along the body's peripheral nerves, and can be present from birth, undetected. "These tumors are harder to treat than cutaneous tumors because they invade soft tissue and bone, and can transform into neurofibrosarcoma in 5 to 10 percent of cases. Red flag signs of sarcoma are rapid enlargement and pain in tumors that haven't been previously troublesome," says Pletcher. She launches the Neurofibromatosis Center of New Jersey in 1994, after working at similar ones at North Shore Hospital on Long Island and during her fellowship at Yale University School of Medicine.
If caught early enough, neurofibrosarcoma can be treated with surgery and/or radiation therapy. Cutaneous tumors that mar appearance can be removed surgically. The tumors can return, however.
Although symptoms are mild for most patients, NF1 may involve significant complications -- and there are special issues for children. NF1 can be seen at birth, in infants, and is usually confirmed by age 10. "Three-quarters of our patients at the Center are babies through pre-teens. Learning disabilities occur in about 40 percent of cases. Preschoolers may have developmental delays; ADD or ADHD are common," notes Pletcher.
Children are typically referred to the Center when physicians find multiple cafe au lait spots. "Many people have the spots, but 6 or more are a major clue to neurofibromatosis. If there is also a family history, we can often make the diagnosis early in life. If not, we must wait until a second clue appears. We follow up patients twice a year until age 5, then once a year. By age 10, we can usually definitively diagnose neurofibromatosis -- or rule it out. Occasionally very fair children -- redheads perhaps -- will simply have multiple spots and we feel confident there is no disease," says Pletcher.
Careful monitoring identifies new symptoms as soon as they arise and allows early referral for specialized help so that children can catch up to their peers. "We may suggest an early intervention program run by the state's Special Children's Health Services for infants and toddlers. After age 3, services are provided through the local school district," explains Pletcher, who encourages parents to advocate for services.
"Patients of mine who have accessed services feel better about themselves and often go to college. In contrast, many adults who never received help struggled in school and couldn't go beyond high school," she notes.
Another childhood complication of NF1 is scoliosis, especially in girls. "We aggressively monitor mild scoliosis before age 10 because progression is common. The patient is referred to a pediatric orthopedist even if a mild curve is detected. If we catch changes early, braces alone can sometimes halt progression and surgery can be avoided," says Pletcher.
Optic nerve gliomas that cause visual loss and even blindness may appear in children, as well. Depending on the case, treatment may include chemotherapy or surgery on the optic nerve. Lisch nodules, small lumps on the iris of the eye, turn up in patients of all ages, but are significant only in diagnosis.
NF1 Medical Issues for Adults
"We usually worry most about tumors of the nerve roots that press on the spinal cord from outside. In addition to pain and sensory loss, they can produce weakness in arms or legs or bowel and bladder dysfunction. Such symptoms require prompt treatment. After doing a neurological examination, we obtain and MRI of the spine to determine exactly where the tumor is and usually refer to a neurosurgeon for removal. Patients can have an excellent recovery from the deficits cause by these tumors," explains Kamin, who is an associate professor of neurology at NJMS.
When spinal cord tumors must be removed, state-of-the-art intraoperative monitoring, including electromyography (EMG) and somato-sensory potentials (SSEPs), makes surgery safer. "EMG monitors muscle twitches, contractions, and other signs a nerve is being disturbed so we can make adjustments and avoid nerve damage," explains Maniker.
Hypertension in NF1 patients is another common concern, which must be treated differently from the essential hypertension physicians usually see that runs in families. In contrast, NF1 hypertension results from: (1) renal vascular stenosis, which reduces blood flow and raises blood pressure, or (2) pheochromocytoma, a growth on the adrenal gland. In either case, treating just the symptoms of hypertension doesn't work because the underlying problem still remains. Treatment for renal artery stenosis may include balloon angioplasty. An adrenal growth can be surgically removed.
The Rarer Type: NF2
"Today an MRI detects tumors while they are small. In the past, larger tumors, which are more difficult to remove, could leave the patient with post-surgical facial nerve damage. With early treatment, while the tumor is small, there's a good chance of hearing and facial nerve preservation," explains Maniker.
Diagnostic criteria for NF2 include bilateral 8th nerve tumors; a first degree relative with MF2 and at least two of the following additional findings: meningioma, glioma, schwannoma, juvenile cataract.
The Gene Mystery
Genetic tests are available, but are of limited value because they identify only 65 to 70 percent of affected patients. "You could have NF1 or NF2, yet have a negative test. A positive test only confirms what we've already concluded," says Pletcher.
There is a 50 percent chance both NF1 and NF2 patients will pass on the gene, but prenatal testing is helpful only in certain cases. "In many prenatal situations we can't test for a mutation. There is also an ethical dilemma because the condition is not usually life-threatening. Do you or do you not continue the pregnancy under these circumstances?" asks Pletcher.
Looking for a Cure
Someday, genetic research may lead to advances that suppress or retard tumor growth. In the meantime, palliative treatment is effective, although neurofibromatosis cannot be cured. "The goal is to help patients maintain their health by taking care of and monitoring themselves so that we can identify symptoms early, while they are treatable, and prevent the more serious complications," says Pletcher. That happens every day at the Neurofibromatosis Center of New Jersey. ●
Diagnostic Clues to Neurofibromatosis
Diagnostic criteria for NF2 include bilateral 8th nerve tumors; a first degree relative with NF2 and a unilateral 8th nerve tumor; a first degree relative with NF2 and at least two of the following additional findings: meningioma, glioma, schwannoma, *juvenile cataract.
*Schwannomatosis is a newly defined category of neurofibromatosis, which hasn't been traced to a chromosome yet and is characterized by schwannomas, multiple tumors with a different histology from other growths.
Quick: Can you name the disease that kills 1.7 million people a year and causes 9.2 million new cases annually - yet is preventable and curable?
The disorder may come as a surprise. It's tuberculosis, which traces its history as far back as ancient Egypt but constitutes a worldwide public health crisis today.
"It's a catastrophe in the making," according to Lee B. Reichman, MD, MPH, executive director of The New Jersey Medical School Global Tuberculosis Institute (GTBI). "More people die of TB than any other infectious disease, and it is the leading killer of people with HIV. There is a global threat because countries are missing their TB control target. Interest in waning. Detection of new cases has slowed worldwide, and there's a $2.5 billion deficit in TB control funding."
In the U.S., new TB cases declined at a rate of 7.3 percent a year from 1993 to 2003. The Centers for Disease Control (CDC) reported 13,293 cases in 2007 vs. 25,000 in 1992. But that rate of decline dropped to 3.8 percent annually from 2003 through 2007. "And today's cases are harder to treat due to increased multiple drug resistance," says Reichman.
The Institute is an international player in this TB emergency. Reichman spent six months last year as senior advisor to The Stop TB Partnership housed at World Health Organization (WHO) headquarters in Switzerland - and as technical advisor to George Sampaio, former president of Portugal and the UN Secretary General's special envoy on tuberculosis. They traveled extensively together to raise TB awareness.
Current TB treatment involves a combination of four drugs (isoniazid, rifampin, pyrazinamide, and ethambutal), usually taken for six months in order to kill all Mycobacterium tuberculosis bacteria and prevent mutation into drug resistance organisms. However, the CDC is supporting research at the Institute into new drug regimens that would lower treatment time from six months to two months, and be less toxic.
These four drugs are given under direct observation five days a week. Reichman explains, "The trouble is most people stop taking their medicine, which results in a relapse and drug-resistant TB. Multiple drug resistant (MDR)-TB is caused by inappropriate prescription of medication by practitioners or inadequate drug taking by patients. At our Institute, adherence rates for clinic patients are 98 percent to 99 percent, despite the fact that many are homeless, alcoholics, drug abusers, or HIV-positive."
Another reason for the rise in MDR-TB is the U.S. is the increase in foreign-born populations from countries where TB is common. "More than 58 percent of TB patients are born elsewhere," says Reichman.
In 2005, the CDC charged the Institute with strengthening the public health response to TB in the northeastern U.S. CDC has funded GTBI to expand programs and build a regional network of TB consultants. This Northeastern Regional Training and Medical Consultation Center (TRMCC), one of four throughout the country, covers 16 states from Indiana to Maine and the cities of Philadelphia, Baltimore, New York, and Detroit. GTBI is also New Jersey's stipulated consultant on MDR-TB and the state's medical professionals are required to call the Institute about all cases of MDR-TB.
The GTBI toll-free number -- 1-800-4TB-DOCS (482-3627) -- is answered Monday through Friday, 9 a.m. - 5 p.m., with voice mail available 24/7. Calls are taken on a rotating basis by Reichman; Reynard J. McDonald, MD, director of research; Alfred Lardizabal, MD, assistant director of research; George McSherry, MD, co-director, pediatrics; Kevin Fennelly, MD, MPH, interim director, Division of Pulmonary & Critical Care Medicine, NJMS; and John Bernardo, MD, medical director, Division of TB Prevention and Control, Massachusetts Department of Public Health.
In 2007, this Infoline received 331 inquiries from medical consultants in health departments, doctors, nurses and other healthcare workers; and 46 calls from the public. "Typical calls relate to treatment, screening or diagnosis. For example, a provider may ask how to handle side effects likes nausea in someone being treated form active tuberculosis, or want to know which alternative drugs are best for an MDR patient," says Chris Hayden, retired director of communications and education at CDC's Division of Tuberculosis Elimination, who is now a GTBI consultant.
Because some physicians rarely see TB, they may not understand recommended procedures for confirming diagnosis. In one case, a father of three young children was hospitalized with active infectious TB. His children had tuberculin skin tests to screen for TB infection and when all three tested positive, the next step should have been a chest X-ray to rule out active disease.
Instead, their pediatrician ordered a gastric aspirate of stomach fluid, a less reliable and invasive diagnostic procedure that requires restraining the child. Tests on the initial aspirates were negative. The infection control expert on the case called the Infoline when the pediatrician wanted to repeat the procedure a few weeks later. The question was whether the ordeal was necessary. GTBI's pediatric TB specialist indicated it was not, and neither was the firs procedure. So, the call saved the children from another trauma, and got them the X-rays they should have had initially.
GTBI provides workshops, courses, downloadable training materials for health professionals, and educational information for the public. "Sixty-on percent of our training, including Web-based training, is off site. We train doctors, nurses, nurse practitioners, disease investigators, and outreach workers," says Nisha Ahamed, MPH, GTBI's education and training director.
Originally established in 1992 as the New Jersey Medical School National Tuberculosis Center, GTBI offers outpatient services in the Waymon C. Lattimore Practice. The clinic specializes in pediatric cases, MDR-TB, and HIV patients with TB. Recently, a grateful patient treated by McDonald anonymously endowed an annual lectureship, and the first Reynard McDonald World TB Day Lecture was delivered at NJMS on March 25 by Michael D. Iseman, MD, a leading international TB authority, who trained with mcDonald at Harlem Hospital Center more than 30 years ago.
Meanwhile, GTBI's international activities are growing. The Institute offers program development, education, training and research to ministers of health in other countries. And supported by a grant from the Johnson & Johnson Foundation, the Institute has developed free courses on TB for journalists in Russia, the Philippines, Romania, Germany, Lithuania, and Latvia.
There's no time to waste. Extensively drug resistant XDR-TB, which is even more serious than MDR-TB, is now found in 45 countries. South Africa is battling an epidemic. "We need people to recognize that TB can be stopped, and it's in our best interests to support global control," says Reichman, "But we have to act now."