Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.

Kabuki or Niikawa-Kuroki syndrome (KS) is a rare disorder with multiple malformations and recurrent infections, especially otitis media. This study aimed to investigate the genetic defects in Kabuki syndrome and determine if immune status is related to recurrent otitis media. Fourteen patients from 12 unrelated families were enrolled in the 9-year study period (2005-2013). All had Kabuki faces, cleft palate, developmental delay, mental retardation, and the short fifth finger. Recurrent otitis media (12/14) and hearing impairment (8/14) were also more common features. Immunologic analysis revealed lower memory CD19+ cells (11/13), lower memory CD4+ cells (8/13), undetectable anti-HBs antibodies (7/13), and antibody deficiency (7/13), including lower IgA (4), IgG (2), and IgG2 (1). Naïve emigrant lymphocytes, lymphocyte proliferation function, complement activity, and superoxide production in polymorphonuclear cells were all normal. All the patients had KMT2D mutations and 10 novel mutations of R1252X, R1757X,Y1998C, P2550R fs2604X, Q4013X, G5379X, E5425K, R5432X, R5432W, and R5500W. Resembling the phenotype of common variable immunodeficiency, KS patients with antibody deficiency, decreased memory cells, and poor vaccine response increased susceptibility to recurrent otitis media. Large-scale prospective studies are warranted to determine if regular immunoglobulin supplementation decreases the frequency of otitis media and severity of hearing impairment.

One-dimensional ZnO nanostructures.

The wide-gap semiconductor ZnO with nanostructures such as nanoparticle, nanorod, nanowire, nanobelt, nanotube has high potential for a variety of applications. This article reviews the fundamentals of one-dimensional ZnO nanostructures, including processing, structure, property, application and their processing-microstructure-property correlation. Various fabrication methods of the ZnO nanostructures including vapor-liquid-solid process, vapor-solid growth, solution growth, solvothermal growth, template-assisted growth and self-assembly are introduced. The characterization and properties of the ZnO nanostructures are described. The possible applications of these nanostructures are also discussed.

Optical control of phase transformation in Fe-doped TiO2 nanoparticles.

A series of anatase phase Fe-doped TiO2 nanoparticles are prepared by a modified sol-gel method. Spontaneous Raman spectroscopy is utilized to characterize the crystal structures of these nanoparticles and investigate their structural transformation under the exposure of a 532 nm green laser. The anatase phase of TiO2 can be effectively converted into the rutile phase with the assistance of Fe doping. It is found that the critical laser intensity for phase transformation decreases with increasing the Fe content. We ascribe this tendency to the enhanced optical absorption and the photo-induced thermal heating effect, which can be associated with the defect structure within the bandgap of Fe- TiO2 nanoparticles. Our study demonstrates an all-optical approach to pump and probe the phase transformation of metal-doped TiO2 nanoparticles.

Preparation and characterizations of ZnO nanotubes by acidic etching nanowires.

Single crystalline ZnO nanowires were synthesized by hydrothermal process and then formed nano-tubes by acidic etching these nanowires in acetic solution at 85 degrees C. The nanotube diameter can be easily controlled by dividing the nanowires growth and etching process. The ZnO nanotubes remain single crystalline hexagonal structure after the etching process. The defects existed in the nanowires and the dangling bonds of the nanowires' surface play the important roles for the etching process. An etching model for forming ZnO nanotubes is proposed, which can be proved by our experimental results.

Optical properties of Ce-doped ZnO nanowires directionally grown by hydrothermal method.

Well directionally grown Ce-doped ZnO nanowires were successfully synthesized by a simple hydrothermal method. The Ce dopant plays a key role in evolving the morphology, affecting the crystalline size, and forming the uniform nanostructure of the ZnO nanowires. The amount of Ce dopant in the ZnO nanowires also affects the regions of blue-shift in the UV and green emission peaks and the intensities of emission peaks based on the cathodoluminescence spectra of the nanowires. Moreover, the effect of Ce doping amount on the microstructure of the nanowires is also presented.

Apical soft tissue biopsies predict biochemical failure in radical perineal prostatectomy patients with apical cancer involvement.

The aim of the study was to prospectively assess the role of apical soft tissue biopsies in radical perineal prostatectomy (RPP) patients with documented apical prostate cancer (PCA) involvement. Between June 1998 and May 1999, 77 consecutive men with localized PCA and documented invasion of the prostatic apex underwent RPP by a single surgeon. Soft tissue biopsies were systematically obtained from the prostatic fossa overlying the apex at the time of surgery. Time to biochemical failure was calculated using the Kaplan-Meier method. The rates of positive apical margins and positive apical soft tissue biopsies were 23.4% (18/77) and 15.6% (12/77). The sensitivity, specificity and positive predictive value of positive apical margins for residual apical disease as determined by apical soft tissue biopsy were 41.7, 80, and 28%, respectively. The overall biochemical failure rate was 28.6% (22/77) with a median follow-up of 51 months (range 3-73 months). The 36-month biochemical recurrence-free survival rate was 55.9+/-14.9% for patients with positive apical biopsies and 78.7+/-5.3% for those with negative biopsies (P=0.023). In conclusion, positive apical soft tissue biopsy is an independent predictor of biochemical failure in patients with apical PCA who undergo RPP. Positive apical surgical margins poorly predict residual apical disease that is frequently identifiable by apical soft tissue biopsy. Apical soft tissue biopsies should therefore be obtained in patients with known extensive apical cancer involvement at the time of RPP.

Prostatic carcinosarcoma 15 years after combined external beam radiation and brachytherapy for prostatic adenocarcinoma: a case report.

A 65-year-old man with a history of combined pelvic external beam radiation therapy (EBRT) and brachytherapy for prostatic adenocarcinoma 15 years prior underwent total pelvic exenteration for presumed rectal sarcoma with prostatic invasion. Pathology revealed carcinosarcoma of prostatic origin. This patient exhibited the longest reported interval between initial presentation with prostatic adenocarcinoma and development of carcinosarcoma. This case is also the first reported case of prostatic carcinosarcoma occurring after combined EBRT and brachytherapy. The increasing use of such combination high-dose radiation therapy may potentially lead to an increased incidence of secondary malignancies such as prostatic carcinosarcoma in the future.

One-dimensional semiconductor nanostructures as absorber layers in solar cells.

The one-dimensional (1-D) nanostructures of cadmium chalcogenides (Il-VI: CdSe, CdTe), InP and GaAs (III-V), and the ternary chalcopyrites CulnS2, CulnSe2, and CulnTe2 (I-III-VI2) are the candidate semiconductors of interest as absorber layers in solar cells. In the confinement regime (approximately 1-10 nm) of these 1-D nanostructures, the electronic energy levels are quantized so that the oscillator strength and the resultant absorption of solar energy are enhanced. Moreover, the discrete energy levels effectively separate the electrons and holes at the two electrodes or at the interfaces with a polymer in a hybrid structure, so that an oriented and 1-D nanostructured absorber layer is expected to improve the conversion efficiency of solar cells. The intrinsic anisotropy of Il-VI and l-lll-VI2 crystal lattices and the progress in various growth processes are assessed to derive suitable morphological features of these 1-D semiconductor nanostructures. The present status of research in nanorod-based solar cells is reviewed and possible routes are identified to improve the performance of nanorod-based solar cells. Finally, the characteristics of nanorod-based solar cells are compared with the dye-sensitized and organic solar cells.

Application of on-wafer TRL calibration on the measurement of microwave properties of Ba0.5Sr0.5TiO3 thin films.

A series of Al/Ba0.5Sr0.5TiO3(BST)/sapphire multi-layered coplanar waveguide (CPW) transmission lines of different geometries and thin-film configurations was fabricated. We employed an accurate on-wafer Through-Line-Reflect (TRL) calibration technique and quasi-TEM analysis to measure the dielectric constant, loss tangent, and tunability of BST thin films using this CPW structure. Experimental results show that the overall insertion loss is less than 3 dB/cm even at frequencies as high as 20 GHz, which is the lowest obtained to date for metal/BST CPW devices. This result indicates that, with optimized impedance matching, normal conductors are also possibly suitable for fabricating low-loss tunable phase-shifter devices.

Characterization of a novel DNA primase from the Salmonella typhimurium bacteriophage SP6.

The gene for the DNA primase encoded by Salmonella typhimurium bacteriophage SP6 has been cloned and expressed in Escherichia coli and its 74-kDa protein product purified to homogeneity. The SP6 primase is a DNA-dependent RNA polymerase that synthesizes short oligoribonucleotides containing each of the four canonical ribonucleotides. GTP and CTP are both required for the initiation of oligoribonucleotide synthesis. In reactions containing only GTP and CTP, SP6 primase incorporates GTP at the 5'-end of oligoribonucleotides and CMP at the second position. On synthetic DNA templates, pppGpC dinucleotides are synthesized most rapidly in the presence of the sequence 5'-GCA-3'. This trinucleotide sequence, containing a cryptic dA at the 3'-end, differs from other known bacterial and phage primase recognition sites. SP6 primase shares some properties with the well-characterized E. colibacteriophage T7 primase. The T7 DNA polymerase can use oligoribonucleotides synthesized by SP6 primase as primers for DNA synthesis. However, oligoribonucleotide synthesis by SP6 primase is not stimulated by either the E. coli- or the T7-encoded ssDNA binding protein. An amino acid sequence alignment of the SP6 and T7 primases, which share only 22.4% amino acid identity, indicates amino acids likely critical for oligoribonucleotide synthesis as well as a putative Cys(3)His zinc finger motif that may be involved in DNA binding.