A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS.

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility. ICGi040-A cells have karyotype 47,XY,+r(4) in 97% of cells and express a set of pluripotent markers, as well as are able to differentiate in vitro into derivatives of all three embryonic germ layers.

Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.

Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.

Ab initio predictions of graphite-like phase with anomalous grain boundaries and flexoelectricity from collapsed carbon nanotubes.

Although large-radius carbon nanotubes (CNTs) are now available in macroscopic quantities, little is known about their condensed phase. Large-scale density functional theory calculations predict a low energy phase in which the same-diameter "dog-bone" collapsed CNTs form a graphite-like phase with complex, anomalous grain boundaries (GBs). The excess GB volume does not prevent the strong van der Waals coupling of the flattened CNT sides into AB stacking.

Optoacoustic model-based inversion using anisotropic adaptive total-variation regularization.

In optoacoustic tomography, image reconstruction is often performed with incomplete or noisy data, leading to reconstruction errors. Significant improvement in reconstruction accuracy may be achieved in such cases by using nonlinear regularization schemes, such as total-variation minimization and -based sparsity-preserving schemes. In this paper, we introduce a new framework for optoacoustic image reconstruction based on adaptive anisotropic total-variation regularization, which is more capable of preserving complex boundaries than conventional total-variation regularization.

The Impulse Response of Negatively Focused Spherical Ultrasound Detectors and Its Effect on Tomographic Optoacoustic Reconstruction.

In optoacoustic tomography, negatively focused detectors have been shown to improve the tangential image resolution without sacrificing sensitivity. Since no exact inversion formulas exist for optoacoustic image reconstruction with negatively focused detectors, image reconstruction in such cases is based on using the virtual-detector approximation, in which it is assumed that the response of the negatively focused detector is identical, up to a constant time delay, to that of a point-like detector positioned in the detector's center of curvature. In this paper, we analyze the response of negatively focused spherical ultrasound detectors in three dimensions and demonstrate how their properties affect the optoacoustic reconstruction.

Excluded Volume Approach for Ultrathin Carbon Nanotube Network Stabilization: A Mesoscopic Distinct Element Method Study.

Ultrathin carbon nanotube films have gathered attention for flexible electronics applications. Unfortunately, their network structure changes significantly even under small applied strains. We perform mesoscopic distinct element method simulations and develop an atomic-scale picture of the network stress relaxation.

Analysis of Negatively Focused Ultrasound Detectors in Optoacoustic Tomography.

In optoacoustic tomography, negatively focused transducers may be used for improving the tangential image resolution while preserving a high signal-to-noise ratio. Commonly, image reconstruction in such scenarios is facilitated by the use of the virtual-detector approach. Although the validity of this approach has been experimentally verified, it is based on an approximation whose effect on optoacoustic image reconstruction has not yet been studied.

[Ultrasound diagnosis of acute appendicitis].

The possibilities of ultrasonic examination in the diagnosis of acute appendicitis are analysed. The ultrasonic parameters are systematized on the basis of examination of 76 patients with various forms of acute inflammation of the vermiform process and of 16 healthy individuals. Exosemeiotics of acute appendicitis is presented.

[The ultrasonic diagnosis of choledocholithiasis].

The results of examination and treatment of 162 patients with clinically suspected choledocholithiasis were analysed. The high significance of ultrasonic examination in the diagnosis of a calculous nature of the affection of the biliary tree with a record of its echosemeiotics is shown. The wide use of ultrasonic examination yields better information.