The medical literature provides little information on manifestations of hereditary hemorrhagic telangiectasia (HHT) in children. The presented investigation was initiated to analyze early presenting symptoms in HHT, which should help to make the diagnosis at a young age and thus prevent potential complications from occult visceral arteriovenous malformations (AVM), which have commonly been described in HHT. A series of 15 children and adolescents with a suspicious diagnosis of HHT were examined clinically for typical signs and symptoms of the disorder. If the diagnosis of HHT seemed to be likely, recommendations for non-invasive screening procedures were given. Screening was directed at the detection of occult visceral AVMs. Main outcome measures were the definition of principal signs of HHT in children and adolescents. Family history was positive for HHT in 13 persons. The principal sign of recurrent epistaxis was present in 10/15 individuals and the earliest age of onset with regard to epistaxis was 4 years. Cutaneous vascular lesions were present in 5/15 patients. Screening for AVMs was performed in six individuals and revealed vascular lesions of the brain in two patients and vascular lesions of the lung in two patients. Gastrointestinal hemorrhages were present in one infant. Based on these findings, diagnosis of HHT seemed likely in ten individuals and unlikely in five individuals. Signs and symptoms of HHT in children and adolescents may be discrete, but are detectable at an earlier age than previously thought. Clinical examinations in children from HHT families may help identify candidates who will benefit from molecular genetic testing or screening imaging studies.
Patient selection resulted in long OS despite metastatic disease, and dose-intensified fractionated SBRT for spinal metastases was safe and achieved long-term local tumor control and palliation of pain.
BackgroundThe aim of this study was to quantify the variability in spinal radiosurgery (SRS) planning practices between five international institutions, all member of the Elekta Spine Radiosurgery Research Consortium.MethodsFour institutions provided one representative patient case each consisting of the medical history, CT and MR imaging. A step-wise planning approach was used where, after each planning step a consensus was generated that formed the basis for the next planning step. This allowed independent analysis of all planning steps of CT-MR image registration, GTV definition, CTV definition, PTV definition and SRS treatment planning. In addition, each institution generated one additional SRS plan for each case based on intra-institutional image registration and contouring, independent of consensus results.ResultsAveraged over the four cases, image registration variability ranged between translational 1.1 mm and 2.4 mm and rotational 1.1° and 2.0° in all three directions. GTV delineation variability was 1.5 mm in axial and 1.6 mm in longitudinal direction averaged for the four cases. CTV delineation variability was 0.8 mm in axial and 1.2 mm in longitudinal direction. CTV-to-PTV margins ranged between 0 mm and 2 mm according to institutional protocol. Delineation variability was 1 mm in axial directions for the spinal cord. Average PTV coverage for a single fraction18 Gy prescription was 87 ± 5 %; Dmin to the PTV was 7.5 ± 1.8 Gy averaged over all cases and institutions. Average Dmax to the PRV_SC (spinal cord + 1 mm) was 10.5 ± 1.6 Gy and the average Paddick conformity index was 0.69 ± 0.06.ConclusionsResults of this study reflect the variability in current practice of spine radiosurgery in large and highly experienced academic centers. Despite close methodical agreement in the daily workflow, clinically significant variability in all steps of the treatment planning process was demonstrated. This may translate into differences in patient clinical outcome and highlights the need for consensus and established delineation and planning criteria.
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