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There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4 years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18 years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long-term complications of achondroplasia.

In an effort to make intensive lifestyle modification programs more accessible to patients with cardiovascular disease, the Ornish Program was offered at eight independent medical centers located across the United States. The purpose of this study was to determine if one of these independent sites was able to replicate outcomes produced by the original Ornish Program. Fifty program participants from six different cohorts provided baseline, 3- and 12-month data consisting of blood lipids, body fat, blood pressure, anginal pain, quality of life, stress, depression, social support, and hostility. A pooled analysis showed significant reductions in almost all physiological and psychosocial variables with most reductions persisting for at least 12 months. These findings suggest that cardiovascular disease patients who choose to participate in an independent, intensive lifestyle modification program can experience significant improvements in both physiological and psychosocial cardiovascular disease risk factors.

“N-of-1 clinical trials” are randomized, multiple-period crossover trials carried out in individual patients. Most clinical trials are conducted for the purpose of producing information generalizable to a larger population, but N-of-1 trials are usually conducted to inform a single patient and a clinical-care provider about the effects of a specific therapy for that patient. Generalizing beyond that patient is usually not the intent of an N-of-1 study, though multiple N-of-1 trials may be combined to produce results with greater external validity. Like all crossover studies, there is a limited range of conditions and treatments that are amenable to investigation with an N-of-1 design, and practical barriers often exist to wider implementation of these studies in the typical clinical setting. Nevertheless, N-of-1 trials provide a potential means for providing more evidence-based individualized therapeutic decision-making in clinical practice. Keywords: Cross-over studies; randomization; treatment; statistical analysis; patient care