Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature

Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. The patient presented with osteoporosis, platyspondyly, ocular findings, hearing loss, kyphosis, scoliosis, facial findings, intellectual disability, and undescended testicles. Previous reports of bisphosphonate treatment response were variable, whereas a long-term follow-up with bisphosphonate treatment in this case resulted in normalization of vertebral structures. Reporting such cases helps to determine the appropriate genotype–phenotype correlation in patients with XYLT2-related pathogenesis.     

Evaluation of Related Factors in the Failure of Endodontically Treated Teeth: A Cross-sectional Study

Introduction

The aim of this study was to review the factors related to the failure and extraction of unsuccessful endodontically treated teeth.

Pierre Robin sequence with H-type tracheoesophageal fistula and congenital heart disease

Pierre Robin sequence (PRs) is a congenital disease characterized by micrognathia, cleft palate, glossoptosis and a wide range of other anomalies. The treatment of patients with PRs may be problematic due to the varying anomalies and high mortality rate. In this case report, a 1-day-old newborn with micrognathia, cleft lip and palate, glossoptosis, a membranous ventricular septal defect and an H-type tracheoesophageal fistula has been evaluated and discussed considering the current literature. To the best of our knowledge, the coexistence of PRs with a membranous ventricular septal defect and H-type tracheoesophageal fistula has not been previously described.     

Serum Ischemia‐modified Albumin Levels in an Experimental Acute Mesenteric Ischemia Model

Objectives: This experimental study aimed to assess the changes in the levels of serum ischemia‐modified albumin (IMA) and interleukin‐6 (IL‐6) by time in cases of acute mesenteric ischemia due to superior mesenteric artery occlusion. Methods: Twenty‐one New Zealand rabbits were randomly divided into three groups. Blood samples were collected at hours 0, 1, 3, and 6 from animals in a control group; a sham group following a simple laparotomy; and in an ischemia group following superior mesenteric artery ligation. All blood samples were analyzed for serum IMA and IL‐6 levels, and then the time‐dependent changes of biomarkers were investigated. Results: The serum IMA levels of the ischemia group at hours 3 and 6 were significantly higher than those of the control and sham groups (hour 3, p = 0.017; hour 6, p = 0.001). The increase in serum IL‐6 levels in the ischemia group at hours 1, 3, and 6 compared to the control and sham groups was also significant (hour 1, p = 0.002; hour 3, p = 0.003; hour 6, p = 0.003). Conclusions: IMA may be helpful as a marker in the diagnosis of acute mesenteric ischemia; however, its diagnostic value and use as a routine biochemical test should be assessed in further studies. ACADEMIC EMERGENCY MEDICINE 2010; 17:1233–1238 © 2010 by the Society for Academic Emergency Medicine     

Immobilization of albumin on indium-tin oxide (ITO) surface via isocyanate linkage

Indium-tin oxide (ITO) surfaces have become a very important material for use as a conducting substrate, recently. Immobilization of biological molecule onto the ITO is a fundamental step in the development of biosensors. In this paper, attachment of albumin was carried out using ITO as a support. Albumin was covalently immobilized onto self–assembled monolayer (SAM) of (3-isocyanatopropyl) triethoxysilane (IPTES) on ITO surface. Isocyanato-functionalized organic film was prepared by self–assembling on active ITO surface. After that, human serum albumin (HAS) which was prepared in Phosphate-Buffered Saline Solution (PBS: pH 7.4, 0.1 M), was covalently immobilized on IPTES modified ITO surface. The study here can help us understand the influence of monolayer and electrochemical behavior on ITO surface. Characterization of stepwise changes of active ITO, IPTES/ITO and albumin/IPTES/ITO surfaces were carried out using contact angle (CA) measurements, fluorescence microscopy, atomic force microscopy (AFM), electrochemical impedance spectroscopy (EIS) and cyclic voltammetry (CV), respectively.     

Preferential binding of ATR protein to UV-damaged DNA

The ATR protein is a member of the phosphoinositide 3-kinase-related kinase family and plays an important role in UV-induced DNA damage checkpoint response. Its role as a signal transducer in cell cycle checkpoint is well established, but it is currently unclear whether ATR functions as a damage sensor as well. Here we have purified the ATR protein and investigated its interaction with DNA by using biochemical analysis and electron microscopy. We find that ATR is a DNA-binding protein with higher affinity to UV-damaged than undamaged DNA. In addition, damaged DNA stimulates the kinase activity of ATR to a significantly higher level than undamaged DNA. Our data suggest that ATR may function as an initial sensor in the DNA damage checkpoint response.