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Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular ABT-263 mw genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. ? 2013 Wiley Periodicals, Inc. ""De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis in this patient widened the range of symptoms that have been noted in DBS. Mutation analysis of PYCR1 revealed compound heterozygous PYCR1 mutations, including a p.P115fsX7 null mutation allele and a second allele with two missense mutations in cis: p.G248E and p.G297R. The effect of mutation results in a reduction of PYCR1 mRNA expression and PYCR1 protein expression in skin fibroblasts from the patient. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS. ? 2011 Wiley Periodicals, Inc. ""Objectives:? To test the hypothesis selleck chemicals llc that protective ventilation strategy (PVS) as defined by the use of low stretch ventilation Flavoprotein (tidal volume of 5?ml��kg?1 and employing 5?cm of positive end expiratory pressure (PEEP) during one lung ventilation (OLV) in piglets would result in reduced injury compared to a control group of piglets who received the conventional ventilation (tidal volume of 10?ml��kg?1 and no PEEP). Background:? PVS has been found to be beneficial in adults to minimize injury from OLV. We designed the current study to test the beneficial effects of PVS in a piglet model of OLV. Methods:? Ten piglets each were assigned to either ��Control�� group (tidal volume of 10?ml��kg?1 and no PEEP) or ��PVS�� group (tidal volume of 5?ml��kg?1 during the OLV phase and PEEP of 5?cm of H2O throughout the study). Experiment consisted of 30?min of baseline ventilation, 3?h of OLV, and again 30?min of bilateral ventilation. Respiratory parameters and proinflammatory markers were measured as outcome. Results:? There was no difference in PaO2 between groups. PaCO2 (P?
