Sonographic Diagnosis of Urinary Transport Disorders in Childhood.

Urinary transport disorders are among the most common congenital diseases in childhood. Congenital malformations of the urinary tract can cause bacterial urinary tract infections as early as in infancy and early childhood. Urinary tract infections are among the most common bacterial infections in children, and when pyelonephritis is present, the entire urinary tract should always be examined by sonography.

Differential Diagnosis of Acute Scrotum in Childhood and Adolescence with High-Resolution Duplex Sonography.

Acute testicular pain in childhood can be caused by testicular torsion, torsion of the appendix testis, or epididymo-orchitis. Quick and reliable diagnosis is essential for determining the further course of action (surgery or conservative approach). The diagnostic tool of choice is high-resolution sonography with a linear transducer (> 10 MHz) combined with color and spectral Doppler sonography.

In Silico Discovery of Covalent Organic Frameworks for Carbon Capture.

We screen a database of more than 69 000 hypothetical covalent organic frameworks (COFs) for carbon capture using parasitic energy as a metric. To compute CO-framework interactions in molecular simulations, we develop a genetic algorithm to tune the charge equilibration method and derive accurate framework partial charges. Nearly 400 COFs are identified with parasitic energy lower than that of an amine scrubbing process using monoethanolamine; more than 70 are better performers than the best experimental COFs and several perform similarly to Mg-MOF-74.

TelomereHunter - in silico estimation of telomere content and composition from cancer genomes.

Background: Establishment of telomere maintenance mechanisms is a universal step in tumor development to achieve replicative immortality. These processes leave molecular footprints in cancer genomes in the form of altered telomere content and aberrations in telomere composition. To retrieve these telomere characteristics from high-throughput sequencing data the available computational approaches need to be extended and optimized to fully exploit the information provided by large scale cancer genome data sets.

Sonographic and Doppler Sonographic Diagnosis of Necrotizing Enterocolitis in Preterm Infants and Newborns.

Necrotizing enterocolitis (NEC) occurs primarily in immature preterm infants with low birth weight. It has a prevalence of 7 - 11 % with a poor prognosis and a mortality rate of 20 - 40 %. Plain abdominal radiography is still considered the diagnostic method of first choice even though ultrasound can visualize significantly more findings suspicious for NEC.

Biporous Metal-Organic Framework with Tunable CO/CH Separation Performance Facilitated by Intrinsic Flexibility.

In this work, we report the synthesis of SION-8, a novel metal-organic framework (MOF) based on Ca(II) and a tetracarboxylate ligand TBAPy endowed with two chemically distinct types of pores characterized by their hydrophobic and hydrophilic properties. By altering the activation conditions, we gained access to two bulk materials: the fully activated SION-8F and the partially activated SION-8P with exclusively the hydrophobic pores activated. SION-8P shows high affinity for both CO ( Q = 28.

TelNet - a database for human and yeast genes involved in telomere maintenance.

Background: The ends of linear chromosomes, the telomeres, comprise repetitive DNA sequences in complex with proteins that protects them from being processed by the DNA repair machinery. Cancer cells need to counteract the shortening of telomere repeats during replication for their unlimited proliferation by reactivating the reverse transcriptase telomerase or by using the alternative lengthening of telomeres (ALT) pathway. The different telomere maintenance (TM) mechanisms appear to involve hundreds of proteins but their telomere repeat length related activities are only partly understood.

Sonographic Diagnosis of Meningoencephalitis in Newborns and Infants.

Prenatal, neonatal meningoencephalitis and infections of the brain in older infants are often associated with serious complications which can be diagnosed by sonography through the open fontanelles. Most frequently postmeningitic hydrocephalus and subdural effusions occur. Rarer complications are brain abscesses and ventriculitis which are caused by gram negative bacteria such as E.

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication.

Duplex Sonographic Diagnosis of Perinatal Hemorrhagic Stroke.

Children are particularly at risk for stroke in the neonatal period. Neonatal hemorrhagic stroke is rarer than ischemic stroke. The incidence is 40.

Sonographic and Doppler Sonographic Diagnosis of Neonatal Ischemic Stroke.

Children are particularly at risk for stroke in the neonatal period. 1/3 of all strokes in children occur during the perinatal period. The incidence of perinatal stroke is 1:4000.

Materials Genome in Action: Identifying the Performance Limits of Physical Hydrogen Storage.

The Materials Genome is in action: the molecular codes for millions of materials have been sequenced, predictive models have been developed, and now the challenge of hydrogen storage is targeted. Renewably generated hydrogen is an attractive transportation fuel with zero carbon emissions, but its storage remains a significant challenge. Nanoporous adsorbents have shown promising physical adsorption of hydrogen approaching targeted capacities, but the scope of studies has remained limited.

Quantification of telomere features in tumor tissue sections by an automated 3D imaging-based workflow.

The microscopic analysis of telomere features provides a wealth of information on the mechanism by which tumor cells maintain their unlimited proliferative potential. Accordingly, the analysis of telomeres in tissue sections of patient tumor samples can be exploited to obtain diagnostic information and to define tumor subgroups. In many instances, however, analysis of the image data is conducted by manual inspection of 2D images at relatively low resolution for only a small part of the sample.

Cancer Cells with Alternative Lengthening of Telomeres Do Not Display a General Hypersensitivity to ATR Inhibition.

Telomere maintenance is a hallmark of cancer as it provides cancer cells with cellular immortality. A significant fraction of tumors uses the alternative lengthening of telomeres (ALT) pathway to elongate their telomeres and to gain an unlimited proliferation potential. Since the ALT pathway is unique to cancer cells, it represents a potentially valuable, currently unexploited target for anti-cancer therapies.

Telomere dysfunction and chromothripsis.

Chromothripsis is a recently discovered form of genomic instability, characterized by tens to hundreds of clustered DNA rearrangements resulting from a single dramatic event. Telomere dysfunction has been suggested to play a role in the initiation of this phenomenon, which occurs in a large number of tumor entities. Here, we show that telomere attrition can indeed lead to catastrophic genomic events, and that telomere patterns differ between cells analyzed before and after such genomic catastrophes.

PML induces compaction, TRF2 depletion and DNA damage signaling at telomeres and promotes their alternative lengthening.

The alternative lengthening of telomeres (ALT) mechanism allows cancer cells to escape senescence and apoptosis in the absence of active telomerase. A characteristic feature of this pathway is the assembly of ALT-associated promyelocytic leukemia (PML) nuclear bodies (APBs) at telomeres. Here, we dissected the role of APBs in a human ALT cell line by performing an RNA interference screen using an automated 3D fluorescence microscopy platform and advanced 3D image analysis.

Sonographic and Doppler Sonographic Diagnosis of Posthemorrhagic Hydrocephalus.

Severe intracranial hemorrhages occur especially in very immature premature infants born with a gestational age under 28 weeks of gestation and a birth weight below 1000 g. Severe hemorrhages are often complicated by a post-hemorrhagic hydrocephalus (PHH). PHH can be caused by a blockage of the cerebro-spinal fluid pathways or by obliterative arachnoiditis of the posterior cranial fossa.

Echocardiographic differential diagnosis of the cyanotic newborn.

Cyanosis in newborns can be caused by cyanotic heart defects, such as transposition of the great arteries, tetralogy of Fallot, pulmonary and tricuspid atresia, hypoplastic left heart syndrome, common arterial trunk, Ebstein's anomaly of the tricuspid valve, and total anomalous pulmonary venous return. The indicated cyanotic heart defects can be diagnosed or ruled out with three simple echocardiographic views: The parasternal long and short axis view and the apical or subcostal 4-chamber view. If these three views are normal, a cyanotic heart defect can be ruled out.