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BACKGROUND Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated with mutations in tuberous sclerosis genes resulting in constitutive activation of the mammalian target of rapamycin (mTOR). The drug sirolimus suppresses mTOR signaling. METHODS We conducted a 24-month, nonrandomized, open-label(More)
PURPOSE To describe nationwide trends and factors associated with the use of computed tomography (CT) in children visiting emergency departments (EDs) in the United States between 1995 and 2008. MATERIALS AND METHODS This study was exempt from institutional review board oversight. Data from the 1995-2008 National Hospital Ambulatory Medical Care Survey(More)
Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomal-recessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca++-sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalciuric hypercalcemia (FHH) with a laboratory profile that is(More)
BACKGROUND The medial patellofemoral ligament (MPFL), a chief medial restraint preventing lateral patellar dislocation, often is reconstructed in children with recurrent dislocation. The femoral MPFL attachment can be difficult to delineate at surgery. Therefore, the origin of the medial collateral ligament (MCL) frequently is used to approximate the(More)
OBJECTIVE Turner syndrome affects one in 2,500 girls and women and is associated with cardiovascular anomalies. Visualizing the descending thoracic aorta in adults with Turner syndrome with echocardiography is difficult. Therefore, cardiac MRI is the preferred imaging modality for surveillance. Our goals were to use cardiac MRI describe the spectrum and(More)
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred. The phenotype includes early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. In(More)
BACKGROUND AND PURPOSE Little is known about the relationship between perihematomal edema in spontaneous intracerebral hemorrhage (ICH) and outcome. The purpose of this study was to determine whether absolute or relative edema volume (edema volume divided by hematoma volume) predicts mortality or functional outcome in patients with hyperacute spontaneous(More)
PURPOSE To identify nationwide trends and factors associated with the use of computed tomography (CT) in the emergency department (ED). MATERIALS AND METHODS This study was exempt from institutional review board approval. Data from the 1995-2007 National Hospital Ambulatory Medical Care Survey were used to evaluate the numbers and percentages of ED visits(More)
OBJECTIVE To determine the bone mineral density (BMD) status of our juvenile dermatomyositis (DM) population and to compare the frequency of osteopenia in patients with active disease requiring corticosteroids with that in patients with inactive disease who are not receiving corticosteroids. METHODS Medical charts of all children diagnosed as having(More)
OBJECTIVE Increased cartilage T2 relaxation time is thought to be an early marker of disease progression in juvenile idiopathic arthritis, because it can identify microstructural changes before damage becomes visible. The purpose of this study was to investigate longitudinal changes in T2 relaxation time mapping (i.e., T2 map) in children with early(More)