Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

Replication-transcription conflicts have been a well-studied source of genome instability for many years and have frequently been linked to defects in RNA processing. However, recent characterization of replication fork-associated proteins has revealed that defects in fork protection can directly or indirectly stabilize R-loop structures in the genome and promote transcription-replication confl...

a 65-year-old female presenting with hepatobiliary cystadenoma (hc) comprised of multiple cysts in the liver and a non-specific epigastric pain is reported herein.  ultrasound study demonstrated dilated common bile duct (cbd) and intrahepatic bile ducts, plus two spherical stone-like bodies filling defects in the proximal cbd. sphincterotomy and basket performed for the patient were not success...

Abstract Silica scale adhesion onto geothermal power plant equipment reduces the efficiency. In our previous study, diamond-like carbon (DLC) coatings with low sp 2 fractions and high hydrogen contents were found to suppress silica adhesion. Therefore, present study was aimed at clarifying mechanism of graphene-like network DLC. In-lens scanning electron microscopic imaging adhered defective gr...

In this work structural defects were created in P25-TiO2 nanoparticles by using hydrogen DC plasma treatment in different temperatures and exposure times. X-Ray diffraction measurements show that the structure of TiO2 remains unchanged after hydrogenation. Diffuse reflectance spectroscopy measurements demonstrated band gap of TiO2 was not changed considerably by the hydrogenation. However, by a...