Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors.

Genetic testing based on next-generation sequencing (NGS) analysis has recently been used to diagnose hereditary diseases. In this study, we explored the usefulness of our custom amplicon panel that targeted 23 genes related to hereditary tumors given in the American College of Medical Genetics and Genomics recommendations. We applied our custom NGS panel to samples from 12 patients previously diagnosed by Sanger sequencing as having the diseases or diagnosed clinically by meeting the diagnostic criteria in this study. Our gene panel not only successfully identified all variants detected by Sanger sequencing but also identified previously unrecognized variants that resulted in confirmation of the disease, or even in the revision of the diagnosis. For instance, a patient identified with an SDHD gene mutation actually had von Hippel-Lindau (VHL) syndrome, as determined by the presence of a pathogenic VHL gene variant. We also identified false-positive results that were generated by amplification of genome regions that are not intended to be investigated. In conclusion, NGS-based amplicon sequencing is a highly effective method to detect germline variants, as long as they are also carefully reviewed by manual inspection.

Ethinylestradiol is beneficial for postmenopausal patients with heavily pre-treated metastatic breast cancer after prior aromatase inhibitor treatment: a prospective study.

BACKGROUND: Oestrogens usually stimulate the progression of oestrogen receptor (ER)-positive breast cancer. Paradoxically, high-dose oestrogens suppress the growth of these tumours in certain circumstances. METHODS: We prospectively examined the efficacy and safety of ethinylestradiol treatment (3 mg per day oral) in postmenopausal patients with advanced or recurrent ER-positive breast cancer who had previously received endocrine therapies, especially those with resistance to aromatase inhibitors. RESULTS: Eighteen patients were enrolled with the median age of 63 years and the mean observation time of 9.2 months. Three cases withdrew within 1 week due to oestrogen flare reactions with nausea, fatigue and muscle-skeletal pain. The response rate was 50% (9 out of 18), and the clinical benefit rate was 56% (10 out of 18). The stable disease (<6 months) was 17% (3 out of 18) and another 2 cases were judged as progressive disease. Time-to-treatment failure including 2 on treatment was a median of 5.6 months (range 0.1 to 14.5(+)). Although vaginal bleeding or endometrial thickening was observed in patients receiving long-term treatment, there were no severe adverse events, such as deep venous thrombosis or other malignancies. CONCLUSION: Although the mechanism of this treatment has not been fully understood, our data may contribute to change the common view of late-stage endocrine therapy.

A virtual reality interface to an intelligent dental care system.

The design and fabrication of teeth restorations in dentistry rely increasingly on CAD/CAM techniques. We present an approach for interactive design of the occlusal surface of teeth based on simulation of jaw articulation and computer-aided diagnosis of occlusal disorders. To bridge the cognitive gap between the dentist and the computer system, we propose a virtual reality user interface, which applies the metaphors of tools and techniques known in dentistry. This makes the restoration design more intuitive for dentists. The system uses Virtual Reality Modeling Language (VRML) and HTML standards to generate a treatment report and exchange data in an electronic form. The simulation of jaw articulation requires fast calculation of multi-point contacts and detection of collisions between surfaces of teeth and restorations. We have developed a distance maps technique which exhibits realtime performance for objects with complex geometry and is suitable for other virtual reality systems dealing with complex contacts. The characteristics of contacts between teeth acquired during lower jaw motion are compactly represented as accumulated distance maps. These maps are then used for automatic removal of interferences between the restorations and the opponent teeth, and provide the dentist with information for further manual adjustments of the occlusal surfaces.

The color of gingiva studied by visual color matching. Part II. Kind, location, and personal difference in color of gingiva.

A replica of natural gingival color can be fabricated in a prosthesis. A precise record of gingival color helps to follow-up oral and systemic diseases. A healthy gingival color according to the "Periodontal Workshop Committee I" is 'pink' but no indication is given for color variations by age or position. For more precise definition, therefore, gingival color was examined in the maxillary and mandibular anterior regions by visual color matching using standard color chips after Munsell's system. Gingival color was measured in 60 subjects, in 18 locations around the anterior teeth. 1. The gingival color varies in Hue from 10 RP to 2.5 YR, being mainly between 2.5 R and 5 R; in Value from 4 to 8, maximum between 6 and 7.5; and in Chroma from 1.5 to 7, mainly from 4 to 5. 2. No difference in gingival color is recognized between the male and female, or between left and right sides of the jaw. 3. Gingival color varies with the position of papillary, marginal, and attached gingivae, and the parts corresponding to different teeth have different colors. 4. The gingival color of young persons, differs markedly from that of older people. In all the parts, red Hue is more tinged with purple in the old than in the young; Value is higher in the young; and Chroma is higher in the old.

The color of gingiva studied by visual color matching. Part I. Experimental studies on the discrimination threshold for color difference and effect of training.

As a preliminary experiment on the gingival color indicated by Munsell system, the makings or the qualities for color sensation of the individual were checked with regard to (1) discrimination threshold for color difference with certain color range of gingiva (paired difference test for color comparison) and (2) promotion of memorial power by training (test for memory color). A total of 20 males and females (20-30 years old) participated in this preliminary study as experimental subjects and the following results were obtained: (1) the average color discrimination threshold for color difference among subject trained for color memory is 0.8 Lab. (Hunter), and is assumed to be greater in the actual colorimetry of gingiva, (2) the similarity of discrimination is more frequent among the subjects trained for color memory than among those who were not trained, and (3) training for color memory is found to be effective in promoting the ability for color discrimination.