Buque supply AHTS 250 TPF

[Resumen]: El buque proyecto es un buque de apoyo a las plataformas petrolíferas, en concreto un AHTS que además de llevar suministros a las plataformas está especializado para el transportar anclas y elemento de fondeo para plataformas además de prestar servicio de remolque. Posee un sistema de lucha contra incendios FIFI I, y un sistema de posicionamiento dinámico DP2, y además de los datos de la RPA, este buque para su propulsión cuenta con dos propulsores azimutales en popa, y para el posicionamiento dinámico, dos túnel thrusters y un thruster retráctil.[Abstract]: The Project vessel is an AHTS vessel of suport to the oil platforms that in adiction to carrying supplies to the platforms, is specualized for the transporting anchors and elements of anchor of platforms and to towing sercice. It has a FIFI I fire-fighting sistem and DP2 dynamic positioning sistem, and in adiction, this vessel has two aft azimurhal propellers ans for dynamic positioninig, two tunnel thruster and a retactable thruster on the bow.[Resumo]: O buque proxecto é un buque de apoio ás plataformas petrolíferas, en concreto trátase dun AHTS, que ademáis de levar suministros ás plataformas está especializado para transporte e manexo de anclas e elementos de fondeo para as plataformas así comoa tamén para prestar servizo de remolque. Posée un sistema de loita contraincendios FIFI I, e un sistema de posicionamento dinámico DP2, ademáis dos datos da RPA, este buque conta con dous propulsores acimutais en popa e en proa dous túnel thrusters e un thruster retráctil que será utilizados para o posicionamento dinámicoTraballo fin de grao (UDC. EPS). Enxeñaría Naval e Oceánica. Curso 2016/201

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance. Presentation typically occurred between 12 and 36 months. In addition to the two disease-defining features of spondylometaphyseal dysplasia and hypomyelination on MRI, common clinical signs and symptoms included motor deterioration, spasticity, tremor, ataxia, dysarthria, cognitive defects, pulmonary hypertension, nystagmus, and vision loss due to retinopathy. The course of the disease was slowly progressive. All patients had maternally inherited or de novo mutations in or near exon 7 of AIFM1, within a region of 70 bp, including synonymous and intronic changes. AIFM1 mutations have previously been associated with neurologic presentations as varied as intellectual disability, hearing loss, neuropathy, and striatal necrosis, while AIFM1 mutations in this small region present with a distinct phenotype implicating bone. Analysis of cell lines derived from four patients identified significant reductions in AIFM1 mRNA and protein levels in osteoblasts. We hypothesize that AIFM1 functions in bone metabolism and myelination and is responsible for the unique phenotype in this condition.</p