Citations

Purpose: Cranial defects in children have been repaired with various materials ranging from autologous bone to synthetic materials. There is little published literature on the outcomes of titanium mesh cranioplasty (TMC) in calvarial reconstruction in the pediatric population. This study evaluates a pediatric cohort who underwent calvarial defect reconstruction with titanium mesh and assesses the efficacy and outcomes of TMC. Methods: An Institutional Review Board approved retrospective review of patients ≤18 years of age who underwent cranioplasty from 1999 to 2014 at 2 centers was performed. The cohort undergoing TMC was studied. Results: A total of 159 cranioplasties were performed. Autologous reconstruction included 84 bone flap replacements and 36 split calvarial bone graft reconstructions. Six patients underwent PEEK implant reconstruction. Titanium mesh cranioplasty was performed on 33 patients. Two patients underwent 2 separate cranioplasties. The median age of patients was 6 years (19 months to 18 years). The most common underlying etiologies were congenital syndromes/craniosynostosis (13 patients), and trauma (11). The majority of patients had prior cranial surgeries (85%). Various types of titanium mesh were used with sizes ranging from 2×3 cm to 19×20 cm, with some patients requiring distinct areas of defect reconstruction. Perioperative complications were noted in 2 patients that subsequently improved. Two patients had late soft tissue problems with complications of wound infections requiring resection of a portion of the mesh. Patients were followed an average of 4 years (range 13 days to 6.8 years), with 2 patients lost to follow-up. Overall, all patients with follow-up achieved a cranial contour with good symmetry to the unaffected side, as well as effective protection to the brain. Conclusions: Titanium mesh cranioplasty is an effective option for correcting pediatric cranial defects when autologous bone availability is limited and soft tissue coverage allows placement of an implant. The interim outcome for these patients is favorable with few complications and no evidence of growth restriction in the authors’ series. Follow-up will be ongoing for these patients.

ABSTRACTBackgroundA number of genetic loci are associated with risk for Parkinson's disease (PD) based on genome‐wide association studies; however, the relationship between genetic variants and nigrostriatal degeneration, which is the structural correlate of parkinsonism, has not been reported.ObjectivesWe quantified nigrostriatal dopaminergic integrity with image analysis of putaminal tyrosine hydroxylase immunoreactivity in 492 brains with Lewy body disease and used this pathologic endophenotype to explore possible association with PD genetic variants.MethodsThe study cases had Lewy‐related pathology and variable degrees of nigrostriatal degeneration. They were assigned to one of the following clinical subgroups according to their predominant clinical syndrome: parkinsonism‐predominant, parkinsonism+dementia, and dementia‐predominant. In addition to putaminal tyrosine hydroxylase immunoreactivity, semiquantitative scoring was used to assess substantia nigra neuronal loss. A total of 29 PD genetic risk variants were genotyped on each case.ResultsWhen compared with controls, tyrosine hydroxylase immunoreactivity was reduced in Lewy body cases in the dorsolateral (79%) and ventromedial (57%) putamen. The dorsolateral region was better preserved in dementia‐predominant cases than in cases with parkinsonism. Dorsolateral putaminal tyrosine hydroxylase immunoreactivity correlated with neuronal loss in the ventrolateral substantia nigra. Genetic analyses showed no significant association of PD risk variants with putaminal tyrosine hydroxylase immunoreactivity.ConclusionsThe results confirm regional differences in putaminal dopaminergic degeneration and vulnerability of nigrostriatal pathway in Lewy body disorders with parkinsonism. The lack of association with PD genetic risk variants suggests that they may not be associated with quantitative endophenotypes of nigrostriatal degeneration, but more likely related to the risk of disease per se. © 2017 International Parkinson and Movement Disorder Society

AbstractThe prevalence of liver dysfunction and its association with outcomes in patients with previously untreated chronic lymphocytic leukemia (CLL) is unknown. Newly diagnosed (<12 months) previously untreated CLL patients seen at Mayo Clinic, Rochester, MN between 9/1993 and 4/2016 who had baseline assessment of at least one liver function test (LFT) were included in this analysis. The prevalence of liver dysfunction at baseline, proportion of patients who acquired LFT abnormalities, time to first therapy (TTFT) and overall survival (OS) were assessed. An abnormal LFT was present in 82/2336 (3.5%) patients at diagnosis and was associated with advanced Rai stage (Rai III–IV) (21% vs. 6%; P < .001), lower hemoglobin (13.1 g/dL vs. 13.9 g/dL; P < .001), and lower platelet count (187 × 109/L vs. 200 × 109/L; P = .03). Additionally, 236 patients with normal LFTs at diagnosis developed acquired liver dysfunction during follow‐up. Patients with abnormal LFTs at diagnosis had a shorter OS compared to those with normal LFTs (HR 1.80 95% CI 1.13‐2.87; P = .014, adjusted for age, sex, Rai stage, and treatment), although TTFT was not different. Of 52 patients who underwent a liver biopsy, CLL was present in liver tissue in 39/52 (73%) patients, with the portal tracts the most common region involved. Histopathology findings of liver involvement by CLL had limited correlation with choice of CLL therapy. In conclusion, approximately 1 of 25 newly diagnosed CLL patients has abnormal LFTs at diagnosis. Although the TTFT was not different among patients with abnormal LFTs, these patients have a shorter OS compared to those with normal LFTs.