Search

Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE ExomeTM (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three patients ( OTX2, p.( Gln91His), RARB, p. Arg387Cys and GDF6, p. Ala249Glu) and inherited mutations in STRA6 in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.( Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p.( Ala507Ser) and c.401- 1G>A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the PNPT1 and COL4A1-associated disorders described here. [ABSTRACT FROM AUTHOR]

Background/purpose Washing the face with a mild cleanser is generally recommended for acne care. Occasionally, the general public has the misconception that acne is exacerbated by cleansers and furthermore it has concerns about inducing skin irritation and xerosis by intensive washing. Recently, we developed a new cleanser based on sodium laureth carboxylate and alkyl carboxylates ( AEC/soap) that cleans sebum well without penetrating the stratum corneum. Methods We designed a controlled clinical trial conducted on adult Japanese males with moderate or less acne. Twenty subjects washed their faces with AEC/soap base cleanser twice a day for 4 weeks. Assessment of the efficacy was conducted prior to the start of the study, and at the end of weeks 2 and 4. Results Significant improvement of the acne was observed within 2 weeks, and acne lesions were not detectable in 25% of the subjects at week 4. Sebum secretion levels on the skin significantly increased on the forehead, but significantly decreased on the cheek which correlated with the improvement. No complaints of dryness or irritation occurred during the study. Conclusion Washing the face twice a day with facial cleanser based on AEC/soap is an effective care for moderate or less grade facial acne. [ABSTRACT FROM AUTHOR]

A key issue for high-resolution frequency-modulation atomic force microscopy imaging in liquids is minimizing the frequency noise, which requires a detailed analysis of the corresponding noise contributions. In this paper, we present a detailed description for modifying a commercial atomic force microscope (Bruker MultiMode V with Nanoscope V controller), aiming at atomic-resolution frequency-modulation imaging in ambient and in liquid environment. Care was taken to maintain the AFMs original stability and ease of operation. The new system builds upon an optimized light source, a new photodiode and an entirely new amplifier. Moreover, we introduce a home-built liquid cell and sample holder as well as a temperature-stabilized isolation chamber dedicated to low-noise imaging in liquids. The success of these modifications is measured by the reduction in the deflection sensor noise density from initially 100 [formula] to around 10 [formula] after modification. The performance of our instrument is demonstrated by atomically resolved images of calcite taken under liquid conditions. [ABSTRACT FROM AUTHOR]

A simple method of verifying electromagnetic interference (EMI) reduction effects for liquid crystal display (LCD) driver integrated circuits (ICs) is proposed. In this paper, we discuss correlations between radiated emissions and high-frequency currents of power system at three different levels: print circuit board (PCB) level, chip level, and functional circuit level. The EMI design points for LCD driver ICs are presented too. Simulated and measured results prove that our EMI design effectively reduces LCD EMI noise. [ABSTRACT FROM PUBLISHER]

Presents a study that examined the development of pancytopenia after receiving a living-related liver transplantation from a human lymphocyte antigen-haploidentical donor. Information on aplastic anemia; Example of cases which demonstrated the feasibility of allogeneic bone marrow transplantation; Background on some viral infections.

Abstract. We measured surface potential (SP) on a pi-conjugated thiophene oligomer monolayer film deposited on a metallic substrate by Kelvin probe force microscopy using a piezoelectric cantilever. Since the cantilever has a relatively large spring constant (calculated as about 150 N/m), the frequency modulation detection method was used for tip-sample distance regulation in order to achieve high-sensitivity SP measurement. A contact potential difference between monolayer regions and the metallic substrate was clearly observed in an SP image. Furthermore, an apparent change in a contrast of the SP image was observed while the sample was irradiated with ultraviolet light. [ABSTRACT FROM AUTHOR]

We measured surface potential (SP) on a π-conju-gated thiophene oligomer monolayer film deposited on a metallic substrate by Kelvin probe force microscopy using a piezoelectric cantilever. Since the cantilever has a relatively large spring constant (calculated as about 150 N/m), the frequency modulation detection method was used for tip-sample distance regulation in order to achieve high-sensitivity SP measurement. A contact potential difference between monolayer regions and the metallic substrate was clearly observed in an SP image. Furthermore, an apparent change in a contrast of the SP image was observed while the sample was irradiated with ultraviolet light. [ABSTRACT FROM AUTHOR]

The friction and wear characteristics of low-pressure plasma-sprayed (LPPS) ZrO2-Cr2O3-CaF2 from room temperature to 800°C were studied by using a high-temperature reciprocating wear tester. At room temperature, friction of ZrO2-Cr2O3-CaF2 composite coating against Al2O3 sphere was quite high, and exhibited a decrease trend with the increase of load from 30 N to 80 N. At 700°C, the composite exhibited the lowest friction and wear among all selected temperature conditions. Brittle fracture and delamination with large wear sheets were considered as the dominant wear mechanism at room temperature. At 400°C, microfracture dropping become more dominated. However, plastic deformation, formation of CaF2 lubrication films and particle removal of Cr2O3 appeared as the main wear mechanisms at elevated temperatures. CaF2 acting as an effective lubricant at 600°C and 700°C reduced the friction and wear of the composite. Cr2O3 particles played a very important role on controlling the size and type of microcracks and preventing or deflecting the microcrack propagation during 700°C test. Cr2O3 particles also acted as hard barriers to resist the scratching and high-temperature deformation of ZrO2-CaF2 matrix without increasing the friction. To a great extent, wear mainly depended on the degree of debonding and removal of Cr2O3 particles at 700°C. [ABSTRACT FROM AUTHOR]

Fifty-eight patients (mean age 18.4 years) who had received splint therapy for internal derangement of the temporomandibular joint (TMJ) were examined retrospectively to investigate the efficacy of occlusal reconstruction by orthodontic treatment. The subjects were divided into three groups: 18 patients (mean age 18.6 years) who underwent orthodontic treatment combined with the use of splints (ST group); 27 patients (mean age 18.2 years) who underwent orthodontic treatment without the use of splints (NST group); and 13 patients (mean age 17.9 years) who received only splint therapy for temporomandibular joint disorders (TMD; control group). TMJ sound, pain on movement and restriction of mandibular movement were examined at the initial examination (T1), at the end of the splint therapy for TMD or beginning of orthodontic treatment (T2), at the end of orthodontic treatment (T3), and at recall or 1 year after orthodontic treatment (T4). The following results were found. (1) The percentage of patients with no joint sound at T2 was 20-30 per cent. The percentage of such patients in both the ST and NST group increased to over 50 per cent at T3, but slightly decreased to 39-50 per cent at T4. There were no significant inter-group differences at any time point. (2) The number of patients who had no pain on movement at T2 was 60-80 per cent. The percentage of such patients in both the ST and NST groups increased to over 90 per cent at T3, but then slightly decreased to 80 per cent at T4. There were no significant inter-group differences at any time point. (3) None of the patients showed restriction of movement of the TMJ at T2 or T4. One patient in the ST group was found to have restriction at T3. There were no significant inter-group differences at any time point. (4) The most frequent type of malocclusion in both ST and NST groups was anterior open bite. These results suggest that TMD symptoms that have been eliminated by splint therapy are not likely to recur du... [ABSTRACT FROM AUTHOR]