Citations

Amyloidomas are rare tumor-like depositions of abnormally folded, insoluble proteins that may be seen in the setting of systemic amyloidosis or as isolated tumoral deposits. Focal, isolated amyloidomas carry an excellent prognosis whereas systemic amyloidoses do not. The ability to identify or suggest amyloidoma on imaging studies may help direct laboratory testing and eventual diagnosis. Amyloidomas involving the head and neck have been variably described from homogeneously T2 hypointense to iso-slightly hyperintense relative to skeletal muscle. Herein we present two patients with pharyngeal submucosal amyloidomas of differing sizes and imaging characteristics to emphasize their potential widely variable imaging appearance and broaden our knowledge of these rare lesions.

Abstract Introduction Traumatic brain injury (TBI) and posttraumatic stress disorder (PTSD) have previously been reported to be associated with increased risk of Alzheimer's disease (AD). We are using biomarkers to study Vietnam Veterans with/without mild cognitive impairment with a history of at least one TBI and/or ongoing PTSD to determine whether these contribute to the development of AD. Methods Potential subjects identified by Veterans Administration records underwent an initial telephone screen. Consented subjects underwent clinical evaluation, lumbar puncture, structural magnetic resonance imaging, and amyloid positron emission tomography (PET) scans. Results We observed worse cognitive functioning in PTSD and TBI + PTSD groups, worse global cognitive functioning in the PTSD group, lower superior parietal volume in the TBI + PTSD group, and lower amyloid positivity in the PTSD group, but not the TBI group compared to controls without TBI/PTSD. Medial temporal lobe atrophy was not increased in the PTSD and/or TBI groups. Discussion Preliminary results do not indicate that TBI or PTSD increase the risk for AD measured by amyloid PET. Additional recruitment, longitudinal follow‐up, and tau‐PET scans will provide more information in the future.

This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal nonmeningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non‐neuroendocrine pituitary tumours. Most notable classification changes include: adding ‘hybrid nerve sheath tumours’ to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF‐1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. The most significant diagnostic markers which have emerged include: inactivation of NF1, CDKN2A, and PRC2 components, SUZ12 and EED in MPNST, leading to neurofibromin and H3K27me3 expression loss; GNAQ and GNA11 mutations in CNS primary melanocytic tumours; BRAFV600E mutation in histiocytic tumours (Langerhans cell histiocytosis and Erdheim‐Chester disease) and papillary craniopharyngioma, which provides both a diagnostic marker in the appropriate pathological setting and a therapeutic target. The WHO 2016 Classification has balanced cutting‐edge knowledge on the molecular characteristics of the miscellaneous CNS tumours reviewed here with a practical approach for their daily diagnostic work‐up. Much more progress can be expected in the classification of these neoplasms in the near future.

Background: Obesity as a cause of lower extremity deformity in children has been well established. This deformity is most often seen as tibia vara, however, at our institution we have observed more obese children and adolescents over age 7 years with excessive or progressive idiopathic genu valgum. Our hypothesis is that children with idiopathic genu valgum have high rates of obesity which impact the severity of their disease. Methods: Retrospective review of existing data was performed on 66 consecutive children/112 limbs over age 7 years with idiopathic genu valgum, seen from 2010 to 2013. Children with known metabolic or skeletal disease were excluded. Genu valgum was defined as mechanical axis in zone II or III and mechanical tibiofemoral angle ≥4 degrees on standing anteroposterior radiograph of the lower extremities. Body mass index (BMI) was calculated and classified by Center for Disease Control percentiles. Skeletal maturation was rated by closure of pelvic and peri-genu physes. Severity of genu valgum was also assessed by femoral and tibial mechanical axes and the mechanical axis deviation. Results: Mean patient age was 12.2±2.2 years. 47% of patients had BMI≥30 and 71% were categorized as obese (>95th percentile). No sex differences were identified. Skeletal maturation explained 25% of the variance in the mechanical axis deviation and 22% of the mechanical tibiofemoral angle. BMI predicted 9.8% of the tibial valgus. Because of its skewed distribution, BMI percentile was a less useful parameter for assessment. Conclusions: The 71% obesity rate found in our children with idiopathic genu valgum is significantly higher than the normal population. Higher BMI is associated with more tibial valgum but skeletal maturation was the main predictor of overall valgus severity. This suggests that obesity may play a role in the etiology of idiopathic genu valgum which progresses with skeletal maturation, thereby increasing the risk of osteoarthritis in adulthood. Level of Evidence: Level III.