Garey H. Noritz

Patterns of Influenza Vaccination among Medical Students

This report examines patterns of influenza vaccination among preclinical and clinical medical students. We used an anonymous online survey to examine medical student behavior and knowledge. Students on clinical rotations, women, and students with better knowledge about the vaccine were more likely to receive the vaccine.

Cardiac and Pulmonary Function Variability in Duchenne/Becker Muscular Dystrophy: An Initial Report

The Duchenne and Becker forms of muscular dystrophy are associated with dilated cardiomyopathy and are diseases in which pulmonary function peaks and then progressively declines. In this report, the authors quantify cardiopulmonary function variability among brothers. Brothers in 3 of 7 eligible sibships had discordant pulmonary function, with significant differences between the brothers’ peak forced vital capacities and their vital capacities at last comparable age. There was no relationship between pulmonary and cardiac function among the siblings. The authors concluded that despite identical genetic mutations, cardiac and pulmonary function variability was common among brothers in their clinic with Duchenne or Becker muscular dystrophy. If confirmed by larger studies, these results have negative implications for the use of genetic testing to predict cardiopulmonary course and response to therapies in Duchenne or Becker muscular dystrophy.

Symptomatic nephrolithiasis in prolonged survivors of Duchenne muscular dystrophy

In this study, we describe the association between Duchenne muscular dystrophy (DMD) and symptomatic nephrolithiasis. The DMD patients were matched to non-ambulatory control patients with non-DMD neurological diagnoses via retrospective chart review. All patients with DMD and symptomatic nephrolithiasis were over 20 years old. We found that six of the 29 at-risk DMD patients had nephrolithiasis (20.7%) while only one of the 68 control patients had nephrolithiasis (1.5%) (p<0.0001). Controlling for duration of immobilization with stratified analysis, the risk ratio for nephrolithiasis among DMD patients compared with controls was 9.94. Using rate-based estimates of renal stone development per 10,000 patient-years, the ratio of stone development among DMD patients compared with controls was 18.5. On logistic regression analysis, the corrected odds ratio for nephrolithiasis comparing DMD patients to controls was 14.26. We conclude that, in our study group, DMD was an independent risk factor for symptomatic nephrolithiasis.

Developmental and behavioral disorders grown up: duchenne muscular dystrophy.

CASE VIGNETTE Matt has Duchenne muscular dystrophy (DMD). He was a late walker, commencing around age 18 months. At age 3 years, he had trouble climbing stairs and keeping up with his peers when they ran and played. The diagnosis of DMD was made at age 5 years by a neurologist who reviewed the history, conducted a physical examination, and discovered that Matt’s blood creatine kinase level was highly elevated. As he reached school age, it became clearer that Matt’s intelligence was below average, and he had trouble staying focused on his schoolwork. He was evaluated by the school psychologist who found that Matt had a Full Scale IQ of 85 (but a lower verbal IQ) and attention-deficit/hyperactivity disorder (ADHD). Matt remained in his local public school, and an Individualized Education Plan was developed for him. He seemed to have particular problems with verbal tasks, including verbal memory. Matt also had behavioral problems and poor social skills. Physically, his muscle weakness continued to progress; his gait became waddling, he fell frequently, and he required full-time use of a wheelchair at age 11 years. He also developed progressive scoliosis and underwent spinal fusion surgery at age 14 years. Over the next 3 years, he developed chronic daytime fatigue and difficulty concentrating. These symptoms were associated with worsening lung function. Therapy was initiated with noninvasive ventilation during sleep. He also developed worsening heart function, requiring treatment with lisinopril, an angiotensinconverting enzyme inhibitor. After graduation from high school, he remained at home with his parents and spent much of each day playing video games. Gradually, his ability to swallow worsened, and he underwent surgical feeding tube placement. He became short of breath while awake and began using the nasal ventilator for a larger and larger portion of the day. The level of care he required from his parents became increasingly intense, and Matt became completely dependent on his parents for feeding, changes of location, toileting, grooming, and all other aspects of daily life. Over time, he became dependent on the nasal ventilator 24 hours/day and took all nutrition and fluids through the feeding tube. His family could not get home nursing care because it was not covered by their insurance; his parents absorbed the increasing burden of care despite their own medical problems related to aging. When Matt developed heart arrhythmias, his cardiologist tried discussing placement of an internal cardiac defibrillator with Matt. However, the cardiologist found it impossible to talk to Matt, who avoided eye contact during the discussion and then had a sudden, explosive outburst of anger. Matt is now 27 years old, and in addition to nasal ventilation, gastrostomy tube feeding, and cardiac medications, he is treated with a hypnotic medication to facilitate sleep. He continues to spend much of his time playing video games using a specially adapted finger controller. His parents wish to know if they should consider placing Matt in a long-term care facility, as they fear they will predecease him or become too frail to provide for his care.