Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic,immunohistochemical, and clinical analyses

Carotid body tumor (CBT) is classified as a paraganglioma (PGL). Here, we report the genetic background, protein expression pattern, and clinical findings of 30 Japanese CBT cases. Germline pathogenic or likely pathogenic (P/LP) variants of genes encoding succinate dehydrogenase subunits (SDHs) were detected in 15 of 30 cases (50%). The SDHB variants were the most frequently detected, followed by SDHA and SDHD variants. One case with SDHAF2 variant was bilateral CBT, and other two multiple PGL cases were not detected P/LP variants. The three cases with germline variants that could be tested did not have somatic P/LP variants of the same genes. Immunohistochemical analysis showed negative SDHB signals in CBT tissues in five cases with germline P/LP variants of SDHB, SDHD, or SDHA. In addition, SDHB signals in CBT tissues were negative in four of nine cases without germline P/LP variants of SDHs. These findings suggest the involvement of unidentified molecular mechanisms affecting SDHs.     

Influence of the implant abutment types and the dynamic loading on initial screw loosening

PURPOSE

This study examined the effects of the abutment types and dynamic loading on the stability of implant prostheses with three types of implant abutments prepared using different fabrication methods by measuring removal torque both before and after dynamic loading.

MATERIALS AND METHODS

Three groups of abutments were produced using different types of fabrication methods; stock abutment, gold cast abutment, and CAD/CAM custom abutment. A customized jig was fabricated to apply the load at 30° to the long axis. The implant fixtures were fixed to the jig, and connected to the abutments with a 30 Ncm tightening torque. A sine curved dynamic load was applied for 10⁵ cycles between 25 and 250 N at 14 Hz. Removal torque before loading and after loading were evaluated. The SPSS was used for statistical analysis of the results. A Kruskal-Wallis test was performed to compare screw loosening between the abutment systems. A Wilcoxon signed-rank test was performed to compare screw loosening between before and after loading in each group (α=0.05).

RESULTS

Removal torque value before loading and after loading was the highest in stock abutment, which was then followed by gold cast abutment and CAD/CAM custom abutment, but there were no significant differences.

CONCLUSION

The abutment types did not have a significant influence on short term screw loosening. On the other hand, after 10⁵ cycles dynamic loading, CAD/CAM custom abutment affected the initial screw loosening, but stock abutment and gold cast abutment did not.     

Physical stability of arginine-glycine-aspartic acid peptide coated on anodized implants after installation

PURPOSE

The aim of this study was to evaluate the stability of arginine-glycine-aspartic acid (RGD) peptide coatings on implants by measuring the amount of peptide remaining after installation.

MATERIALS AND METHODS

Fluorescent isothiocyanate (FITC)-fixed RGD peptide was coated onto anodized titanium implants (width 4 mm, length 10 mm) using a physical adsorption method (P) or a chemical grafting method (C). Solid Rigid Polyurethane Foam (SRPF) was classified as either hard bone (H) or soft bone (S) according to its density. Two pieces of artificial bone were fixed in a customized jig, and coated implants were installed at the center of the boundary between two pieces of artificial bone. The test groups were classified as: P-H, P-S, C-H, or C-S. After each installation, implants were removed from the SRPF, and the residual amounts and rates of RGD peptide in implants were measured by fluorescence spectrometry. The Kruskal-Wallis test was used for the statistical analysis (α=0.05).

RESULTS

Peptide-coating was identified by fluorescence microscopy and XPS. Total coating amount was higher for physical adsorption than chemical grafting. The residual rate of peptide was significantly larger in the P-S group than in the other three groups (P<.05).

CONCLUSION

The result of this study suggests that coating doses depend on coating method. Residual amounts of RGD peptide were greater for the physical adsorption method than the chemical grafting method.     

Cataract and metabolic disease

Summary In addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g. galactosaemia, galactokinase deficiency, Lowe's syndrome and diabetes, several other disorders can also lead to the development of cataracts. They are sorbitol dehydrogenase deficiency, uridine diphosphate galactose-4-epimerase deficiency, marginal maternal transferase and galactokinase deficiency, galactitol and sorbitol accumulation of unknown origin, heterozygosity for galactosaemia and galactokinase deficiency as well as the carrier state for Lowe's syndrome. In this review these metabolic disorders have been divided into five groups according to the age at the first appearance of lens clouding and the possible means of treatment have been discussed.     

A thick frame decreases the fracture toughness of veneering ceramics used for zirconia-based all-ceramic restorations

Purpose

To investigate the influence of firing condition and thickness of a yttria-stabilized tetragonal zirconia polycrystal (Y-TZP) frame on the fracture toughness of veneering ceramics.

Construction of radiation-reduced hybrids and their use in mapping of microclones from chromosome 10p11.2-q11.2

Summary Radiation-reduced hybrids for mapping of DNA markers in the pericentromeric region of chromosome 10 were developed. A Chinese hamster/human somatic cell hybrid (762-8A) carrying chromosomes 10 and Y as the only human material were exposed to 40,000 rads of irradiation and then rescued by fusion with non-irradiated recipient Chinese hamster cells (GM459). Southern hybridization analyses revealed that 10 of 128 HAT-resistant clones contained human chromosomal fragments corresponding to at least one marker locus betweenFNRB (10p-11.2) andRBP3 (10q11.2). These hybrids were then used to map microdissection clones previously isolated and roughly mapped to this chromosomal region by fluorescencein situ hybridization (FISH). Two of the six microclones studied could be mapped to the proximity of the D10-S102 locus. These radiation hybrids are useful for the construction of refined genetic maps of the pericentromeric region of chromosome 10.     

Transcatheter Arterial Embolization for Gastrointestinal Bleeding Secondary to Gastrointestinal Lymphoma

Purpose

To evaluate the effectiveness of transcatheter arterial embolization (TAE) for gastrointestinal (GI) bleeding caused by GI lymphoma.

Materials and Methods

The medical records of 11 patients who underwent TAE for GI bleeding caused by GI lymphoma between 2001 and 2015 were reviewed retrospectively.

Results

A total of 20 TAE procedures were performed. On angiography, contrast extravasation, and both contrast extravasation and tumor staining were seen in 95 % (19/20) and 5 % (1/20) of the procedures, respectively. The most frequently embolized arteries were jejunal (n = 13) and ileal (n = 5) branches. Technical and clinical success rates were 100 % (20/20) and 27 % (3/11), respectively. The causes of clinical failure in eight patients were rebleeding at new sites. In four patients who underwent repeat angiography, the bleeding focus was new each time. Three patients underwent small bowel resection due to rebleeding after one (n = 2) or four (n = 1) times of TAEs. Another two patients underwent small bowel resection due to small bowel ischemia/perforation after three or four times of TAEs. The 30-day mortality rate was 18 % due to hypovolemic shock (n = 1) and multiorgan failure (n = 1).

Conclusion

Angiogram with TAE shows limited therapeutic efficacy to manage GI lymphoma-related bleeding due to high rebleeding at new sites. Although TAE can be an initial hemostatic measure, surgery should be considered for rebleeding due to possible bowel ischemic complication after repeated TAE procedures.