Francis J Dimario

Learn More
BACKGROUND Tuberous sclerosis (TSC) related tumors are characterized by constitutively activated mTOR signaling due to mutations in TSC1 or TSC2. METHODS We completed a phase 2 multicenter trial to evaluate the efficacy and tolerability of the mTOR inhibitor, sirolimus, for the treatment of kidney angiomyolipomas. RESULTS 36 adults with TSC or TSC/LAM(More)
At the recent Tuberous Sclerosis Consensus Conference, a subcommittee proposed recommendations to guide the rational use of diagnostic studies in patients with tuberous sclerosis complex. Recommendations were made for diagnostic evaluation at the time of diagnosis, when testing helps both to establish the diagnosis and to identify potential complications.(More)
OBJECTIVE To determine whether the clinical features of neonatal seizures are of value in predicting outcome. STUDY DESIGN Demographic features, clinical seizure types, etiologic factors, and laboratory findings of all 77 patients with seizures admitted to our neonatal intensive care unit over a consecutive 7-year period were extracted from the medical(More)
PURPOSE To determine the frequency and determinants of subnormal global cognitive function in a representative, community-based sample of children prospectively identified at the time of initial diagnosis of epilepsy. METHODS In children enrolled with newly diagnosed epilepsy and followed a median of 10.5 years, level of cognitive function (within normal,(More)
This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval,(More)
RATIONALE AND OBJECTIVES The authors studied selected anthropometric measurements of plain postero-anterior and lateral skull roentgenograms to ascertain whether these were useful in distinguishing patients with clinically probable neurofibromatosis type-1 from controls. METHODS A retrospective review of medical records of patients for whom skull(More)
The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and patients with probable neurofibromatosis(More)
This study attempted to determine noninvasively whether a dysregulation of autonomic nervous system reflexes exists in children with severe cyanotic breath-holding spells (BHS). This was a cross-sectional study performed in the neurophysiology laboratory at a tertiary care hospital. Patients, 18 months of age and older taken from a referral population of(More)
Acute changes in mental status (AMS) develop in children with cancer from a multitude of cancer- and treatment-related complications. To determine the incidence, etiology, and outcome of children with cancer who had AMS, the medical records of all children under 18 years of age with systemic cancer (excluding primary central nervous system tumors) who had(More)
RATIONALE AND OBJECTIVES We undertook an MRI brain morphometric analysis to investigate the relationships between brain and skull base growth and clinical function in patients with achondroplasia as compared to normal controls. METHODS Patients selected for evaluation included pediatric patients who underwent T1 and T2 or dual-echo, proton-density axial(More)