BackgroundThis study aims to investigate bacterial adhesion on different titanium and ceramic implant surfaces, to correlate these findings with surface roughness and surface hydrophobicity, and to define the predominant factor for bacterial adhesion for each material.MethodsZirconia and titanium specimens with different surface textures and wettability (5.0 mm in diameter, 1.0 mm in height) were prepared. Surface roughness was measured by perthometer (R a) and atomic force microscopy, and hydrophobicity according to contact angles by computerized image analysis. Bacterial suspensions of Streptococcus sanguinis and Staphylococcus epidermidis were incubated for 2 h at 37 °C with ten test specimens for each material group and quantified with fluorescence dye CytoX-Violet and an automated multi-detection reader.ResultsVariations in surface roughness (R a) did not lead to any differences in adhering S. epidermidis, but higher R a resulted in increased S. sanguinis adhesion. In contrast, higher bacterial adhesion was observed on hydrophobic surfaces than on hydrophilic surfaces for S. epidermidis but not for S. sanguinis. The potential to adhere S. sanguinis was significantly higher on ceramic surfaces than on titanium surfaces; no such preference could be found for S. epidermidis.ConclusionsBoth surface roughness and wettability may influence the adhesion properties of bacteria on biomaterials; in this context, the predominant factor is dependent on the bacterial species. Wettability was the predominant factor for S. epidermidis and surface texture for S. sanguinis. Zirconia did not show any lower bacterial colonization potential than titanium. Arithmetical mean roughness values R a (measured by stylus profilometer) are inadequate for describing surface roughness with regard to its potential influence on microbial adhesion.

Uveal melanoma (UM), a tumor of the eye, can be divided into 2 major classes correlating with patients' prognosis. Gene expression profiles and chromosome 3 status are correlated with tumor classification and prognosis. Somatic BAP1 mutations are another feature largely restricted to metastatic UM. Here we performed thorough BAP1 mutation analysis including sequencing and gene dosage analysis of all BAP1 coding exons as well as methylation analysis of the promoter CpG island in a set of 66 UMs. The results were compared with the BAP1 protein expression as determined by immunohistochemistry and the tumor-related survival of the patients. BAP1 sequencing and gene dosage analysis of BAP1 exons by multiplex ligation-dependent probe amplification revealed a mutation in 33 (89%) of 37 tumors with monosomy 3 (M3) or isodisomy 3. BAP1 mutations were not detected in any of the 28 tumors with disomy 3 or partial monosomy 3 (partM3). Most of the sequence mutations (21 of 28) were frame-shift, splice-site, or nonsense mutations leading to a premature termination codon. BAP1 protein as determined by immunohistochemistry was absent in all samples with a BAP1 mutation irrespective of the functional type of mutation. Kaplan-Meier analysis revealed a highly significant association between BAP1 protein staining and patients' survival (P=0.0004). The association between BAP1 mutation status and tumor-related survival was less pronounced but still significant (P=0.0023). We conclude that BAP1 protein staining is favorable over BAP1 mutation screening by Sanger sequencing for prognostic testing of UM patients.

A 20-year-old German man had progressive ataxia, spasticity, and polyneuropathy from childhood. MRI revealed linear pontine hypointensities (figure, A) and cerebellar atrophy (figure, B). Funduscopy showed myelinated fibers radiating from the optic disc (figure, C). Autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS) was diagnosed by identification of biallelic SACS gene mutations (chromosome 13q12). The gene product is sacsin, found in large neurons such as Purkinje cells, one of many ataxia-related proteins. ARSACS, first described in the French-Canadian founder population of Quebec, occurs outside Quebec, 1,2 suggesting that worldwide screening in early-onset cerebellar ataxia with characteristic pontine and funduscopic abnormalities may identify additional cases. M. Gerwig, MD, Essen

Several tumors, including uveal melanoma, show somatic mutations of GNAQ/GNA11. Circumscribed choroidal hemangioma is a benign tumor that becomes symptomatic in adulthood. In some patients, morphologic examination of biopsies is required for differential diagnosis between amelanotic choroidal melanoma and circumscribed choroidal hemangioma. Here, we report the results of GNAQ/GNA11 mutation analysis in samples from circumscribed choroidal hemangioma. Deep amplicon sequencing (Illumina MiSeq, San Diego, CA, USA) of positions R183 and Q209 of GNAQ and GNA11 in tissue samples from 33 patients with histologically diagnosed circumscribed choroidal hemangioma. All patients underwent biopsy or enucleation at our clinic between 2008 and 2018. To enable detection of variant alleles at low fractions, read depth exceeded 15,000-fold. DNA for genetic analysis was prepared from either snap-frozen (n = 22) or FFPE (n = 11) tissue samples. Samples from 28/33 patients (85%) showed a somatic missense mutation of GNAQ (c.626 A > G) predicted to result in p.Q209R. Variant allele fraction was variable (range 2.3% to 28%). Variants of GNAQ resulting in p.Q209 are characteristic for circumscribed choroidal hemangiomas. It appears that the GNAQ mutation spectrum in this tumor is narrow, possibly restricted to p.Q209R. Moreover, the spectrum is distinct from that of uveal melanoma, in which alterations resulting in p.Q209R are very rare.

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