Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

Aims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Methods: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene. Results: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C>G mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family. Conclusions: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females

Corrosion behavior of friction stir welded lap joints of AA6061-T6 aluminum alloy

In this work, the corrosion behaviors of friction-stir lap welding of 6061-T6 Al-alloy are studied. The friction-stir lap welding was performed under different welding conditions (rotation speed and welding speed). The corrosion behavior of the parent alloy, the weld nugget zone (WNZ), and the heat affected zone (HAZ) of each welded sample working as an electrode, were investigated by the Tafel polarization test in 3.5 wt. (%) NaCl at ambient temperature. The morphology of the corroded surface of each region was analyzed by scanning electron microscopy together with energy dispersive spectroscopy (SEM-EDS). The results showed that the corrosion resistance of the parent alloy was better than the WNZ and the HAZ in both welding conditions. Localized pit dissolution and intergranular corrosion were the dominant corrosion types observed in the parent alloy, WNZ, and HAZ. The parent alloy, WNZ, and HAZ exhibited similar corrosion potentials (Ecorr) after T6 heat treatment. This treatment had a better effect on the corrosion resistance of the welded regions than the parent alloy

Magnesia-Based Cements: A Journey of 150 Years, and Cements for the Future?

This review examines the detailed chemical insights that have been generated through 150 years of work worldwide on magnesium-based inorganic cements, with a focus on both scientific and patent literature. Magnesium carbonate, phosphate, silicate-hydrate, and oxysalt (both chloride and sulfate) cements are all assessed. Many such cements are ideally suited to specialist applications in precast construction, road repair, and other fields including nuclear waste immobilization. The majority of MgO-based cements are more costly to produce than Portland cement because of the relatively high cost of reactive sources of MgO and do not have a sufficiently high internal pH to passivate mild steel reinforcing bars. This precludes MgO-based cements from providing a large-scale replacement for Portland cement in the production of steel-reinforced concretes for civil engineering applications, despite the potential for CO2 emissions reductions offered by some such systems. Nonetheless, in uses that do not require steel reinforcement, and in locations where the MgO can be sourced at a competitive price, a detailed understanding of these systems enables their specification, design, and selection as advanced engineering materials with a strongly defined chemical basis

Venous vascular malformations of the craniofacial region: pre-operative embolisation with direct percutaneous puncture and N-butyl cyanoacrylate

Peynircioglu, Bora/0000-0002-1457-4721WOS: 000261826100002PubMed: 18824500Craniofacial venous vascular malformations cause severe cosmetic problems and yet these lesions are not candidates for transcatheter embolisation owing to the lack of arterial feeders. The purpose of this study was to evaluate the effectiveness of pre-operative embolisation of these lesions with N-butyl 2-cyanoacrylate (NBCA) via direct puncture. Between September 2003 and April 2006, 13 patients (7 female; age range, 6-64 years; mean, 16.7 years) were embolised with direct puncture and injection of NBCA. All of the patients were referred from plastic surgery with an operational plan. Angiography performed in all patients showed no or little arterial staining. NBCA diluted with iodized oil at a ratio of 1:6 (18%) was injected via a percutaneously placed 21 gauge needle. Complete embolisation was achieved in 8 patients and partial embolisation in the remaining 5. A total of 18 sessions of embolisation were performed on 13 patients. Nine patients underwent only one embolisation session, three patients underwent two sessions and only one patient underwent three sessions. The mean volume of NBCA used per session was 5.8 ml, ranging from 1-12 ml. All patients underwent a successful surgical resection to improve cosmetic disfigurement within 1015 days after the embolisation procedure. Mean follow-up time was 22 months. One patient experienced skin necrosis on her nose after embolisation. No other complications related to the procedure were observed. In conclusion, pre-operative NBCA embolisation with direct puncture is a safe and easy procedure. It can increase the success of the surgical treatment of these lesions. (C) 2008 The British Institute of Radiolog

An intraoperative unexpected respiratory problem in a patient with Apert syndrome

WOS: 000251145600007PubMed: 17952033We present a case of a 5-year-old child who underwent four operations (three for syndactyly of the hands and one for craniofacial corrections). At the third hour of his craniofacial operation, his EtCO, started to increase and airway resistance was encountered during manual ventilation. The position of the head and neck was checked. An increase in secretion with oral and endotracheal aspiration and a decrease in saturation were observed. When breath sounds disappeared, the patient was reintubated orally. The nasal tube was obstructed with a mucolytic plug. There was no problem during the other operations. This case is presented since anaesthesiologists should be aware of the high incidence of respiratory complications in Apert syndrome

Lactide-PEG cryostructures with stem cells as tissue engineering scaffolds in reconstruction of cranial bone defects in rat model

Annual Tissue-Engineering-and-Regenerative-Medicine-International-Society-European-Chapter Meeting -- JUN, 2008 -- Porto, PORTUGALEgri, Sinan/0000-0002-0120-385X; Meydanli, E. Elif Guzel/0000-0001-9072-3322WOS: 000256239800186…Tissue Engn & Regenerat Med Int Soc, European Cha

Simvastatin releasing novel PCL scaffolds in rat cranium defects

Conference of the Tissue-Engineering-and-Regenerative-Medicine-International-Society (TERMIS-EU) -- SEP 04-07, 2007 -- London, ENGLANDBolgen, Nimet/0000-0003-3162-0803; Meydanli, E. Elif Guzel/0000-0001-9072-3322; Cartmell, Sarah/0000-0001-6864-0846; Bolgen, Nimet/0000-0003-3162-0803; Cavusoglu, Turker/0000-0001-7100-7080WOS: 000248035500384…Tissue Engn & Regenerat Med Int Soc, European Chapter, UK Tissue & Cell Engn So

Cranial bone regeneration via BMP-2 encoding mesenchymal stem cells

Odabas, Sedat/0000-0002-7844-7019; KORKUSUZ, PETEK/0000-0002-7553-3915WOS: 000394598300019PubMed: 27002739Cranial bone repair and regeneration via tissue engineering principles has attracted a great deal of interest from researchers during last decade. Here, within this study, 6mm critical-sized bone defect regeneration via genetically modified mesenchymal stem cells (MSC) were monitored up to 4 months. Cranial bone repair and new bone formations were evaluated by histological staining and real time PCR analysis in five different groups including autograft and bone morphogenetic protein-2 (BMP-2) transfected MSC groups. Results presented here indicate a proper cranial regeneration in autograft groups and a prospering regeneration for hBMP-2 encoding mesenchymal stem cells.Turkish Academy of Sciences (TUBA)Turkish Academy of Sciences; Kirikkale University Scientific Research Projects Coordination UnitKirikkale UniversityErhan Piskin was supported by the Turkish Academy of Sciences (TUBA) as a full member. This study is partially supported by Kirikkale University Scientific Research Projects Coordination Unit