Atomic and Specificity Details of Mucin 1 -Glycosylation Process by Multiple Polypeptide GalNAc-Transferase Isoforms Unveiled by NMR and Molecular Modeling.

The large family of polypeptide GalNAc-transferases (GalNAc-Ts) controls with precision how GalNAc -glycans are added in the tandem repeat regions of mucins (, MUC1). However, the structural features behind the creation of well-defined and clustered patterns of -glycans in mucins are poorly understood. In this context, herein, we disclose the full process of MUC1 -glycosylation by GalNAc-T2/T3/T4 isoforms by NMR spectroscopy assisted by molecular modeling protocols.

Local Intracoronary Fibrinolysis in Acute Myocardial Infarction of Ectatic Coronary Arteries in the Post-Abciximab Era.

Percutaneous intervention in the context of coronary artery ectasia (CAE) is penalized with no-reflow phenomenon. The glycoprotein-IIb/IIIa-inhibitor abciximab was the most accepted method for pharmacology thrombus resolution in this scenario, nevertheless, this agent was recently withdrawn. We describe 5 patients treated with local intracoronary fibrinolysis administrated through predesigned catheters in the setting of AMI and CAE.

Demographic history and selection at HLA loci in Native Americans.

The American continent was the last to be occupied by modern humans, and native populations bear the marks of recent expansions, bottlenecks, natural selection, and population substructure. Here we investigate how this demographic history has shaped genetic variation at the strongly selected HLA loci. In order to disentangle the relative contributions of selection and demography process, we assembled a dataset with genome-wide microsatellites and HLA-A, -B, -C, and -DRB1 typing data for a set of 424 Native American individuals.

Transradial Secondary Approach During Transfemoral TAVI: Usefulness of Placing a Wire Before Femoral Puncture for Management and Treatment of Vascular Complications.

Vascular complications during transcatheter aortic valve implantation (TAVI) are relatively common, and some of them related to the transfemoral secondary access. The use of the transradial access (TRA) as an alternative vascular approach for transfemoral TAVI could reduce these complications, however, the treatment of potential vascular peripheral issues from this access has been scarcely described. The advance of a wire from the TRA to the primary transfemoral access at the beginning of the procedure could help the management of eventual vascular complications.

Outcomes of patients at estimated low surgical risk undergoing transcatheter aortic valve implantation with balloon-expandable prostheses.

Introduction And Objectives: Transcatheter aortic-valve implantation (TAVI) is an accepted treatment for patients with severe aortic stenosis and high surgical risk. However, there is lack in data about TAVI in low-risk patients that are already being treated with this therapy in some clinical contexts.

Methods: A retrospective analysis of patients treated with transfemoral TAVI using Edwards Sapien prosthesis in one center was performed, classifying the patients into three groups according to the surgical risk (high/intermediate/low risk for STS score>8/4-8/<4).

Measurement and Modeling of Narrowband Channels for Ultrasonic Underwater Communications.

Underwater acoustic sensor networks are a promising technology that allow real-time data collection in seas and oceans for a wide variety of applications. Smaller size and weight sensors can be achieved with working frequencies shifted from audio to the ultrasonic band. At these frequencies, the fading phenomena has a significant presence in the channel behavior, and the design of a reliable communication link between the network sensors will require a precise characterization of it.

Enhanced cation recognition by a macrocyclic ionophore at the air-solution interface probed by mass spectrometry.

Interfacial environments have the potential to drive unexpected events of supramolecular recognition, leading to advances in the development of novel functional materials and molecular sensing techniques. We present experimental evidence for a noticeable enhancement of the cation binding specificity of a prototype calixarene macrocycle (cesium ionophore II) at the air-solution interface, in comparison to bulk solution and to isolated solvent-less conditions. A rationalization of this intriguing finding is outlined, with the support of quantum calculations, in terms of the 'half-solvation' conditions provided by the interface and of conformational effects posed by the backbone structure and the side chains of the macrocyclic ionophore.

Heterogeneity of dN/dS Ratios at the Classical HLA Class I Genes over Divergence Time and Across the Allelic Phylogeny.

The classical class I HLA loci of humans show an excess of nonsynonymous with respect to synonymous substitutions at codons of the antigen recognition site (ARS), a hallmark of adaptive evolution. Additionally, high polymporphism, linkage disequilibrium, and disease associations suggest that one or more balancing selection regimes have acted upon these genes. However, several questions about these selective regimes remain open.

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele.