ABSTRACT
BACKGROUND: Amyloidosis encompasses a group of disorders sharing the common feature of intercellular deposition of amyloid protein by several different pathogenetic mechanisms. Primary solitary amyloidosis, or amyloidoma, is a rare subset of amyloidosis in which amyloid deposition is focal and not secondary to a systemic process or plasma cell dyscrasia. CASE DESCRIPTION: This 84-year-old female presented with history of multiple syncopal episodes, dysphagia, and ataxia. Motor strength was 3+/5 in the right upper extremity. Rheumatoid factor, cyclic citrullinated peptide (CCP), and anti-nuclear antibody (ANA) were normal. Serum and urine immune-electrophoresis detected no abnormal bands. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated a non-enhancing soft-tissue mass extending from the retro-clivus to C2 posteriorly, eccentric to the right with severe mass effect on the upper cervical medullary junction. Endoscopic trans-nasal debulking of the retro-clival mass was performed with occiput to C5 posterior instrumentation for spinal stabilization. CONCLUSIONS: Primary solitary amyloidosis, unlike other forms of amyloidosis, has an excellent prognosis with local resection. Diagnosis requires special stains and a degree of suspicion for the disease. This is the first report to document an endoscopic trans-nasal approach for removal of a primary solitary amyloidosis of the retro-clivus. Management of vertebral amyloidoma involves aggressive local resection of the tumor when feasible and spine stabilization as the degree of tumor involvement mandates. Complete evaluation for the diagnosis of systemic amyloidosis is essential for the management and prognostication. Surgeons encountering such lesions must maintain high suspicion for this rare disease and advise pathologists accordingly to establish the correct diagnosis.
ABSTRACT
OBJECTIVE: To describe influences on shared decision making between primary care pediatricians and parents of young children with autism spectrum disorder (ASD). METHODS: We conducted a qualitative study using key informant interviews with 20 pediatricians of varying experience from 10 primary care practices and 20 English-speaking parents of young children (aged 2-5 years) with a parent-reported diagnosis of ASD. Subjects were recruited through purposive sampling. Interviews were audiotaped, transcribed verbatim, and analyzed using an integrated approach to data analysis. Differences in coding were resolved by consensus. We achieved thematic saturation and ceased recruitment after 20 interviews were completed within each group. RESULTS: Three primary themes emerged: 1) pediatricians and parents reported knowledge gaps by pediatricians about ASD treatments and community resources as well as ambiguity regarding the pediatrician's role in ASD care; 2) there was little communication between parents and pediatricians about treatment choices; 3) use of complementary and alternative medical treatments created conflict between pediatricians and parents, and as a result, parents may independently pursue treatments, without the benefit of discussing safety and efficacy with pediatricians. Despite these barriers, parents desired increased support and guidance from their pediatricians, including for complementary and alternative medicine. CONCLUSIONS: Much work is needed to effectively foster shared decision making in the context of ASD treatment decisions in primary care, including pediatrician training in ASD to enhance knowledge about evidence-based and novel treatments, clinical practice guidelines, and community resources.
