Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.

Introduction: Morquio syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an autosomal recessive disease caused by biallelic variants in the gene, encoding the lysosomal enzyme GalN6S, responsible for glycosaminoglycan keratan sulfate and chondroitin-6-sulfate degradation. Studies have shown that the degree of evolutionary and chemical divergence of missense variants in GalN6S when compared to ancestral amino acids is associated with the severity of the syndrome, suggesting a genotype-phenotype correlation. There is little information on Latin American patients with MPS IV-A that replicate these findings.

Annexin A1 attenuates cardiac diastolic dysfunction in mice with inflammatory arthritis.

Rheumatoid arthritis (RA) carries a twofold increased incidence of heart failure with preserved ejection fraction, accompanied by diastolic dysfunction, which can lead to death. The causes of diastolic dysfunction are unknown, and there are currently no well-characterized animal models for studying these mechanisms. Current medications for RA do not have marked beneficial cardio-protective effects.

High Homogenization Pressures to Improve Food Quality, Functionality and Sustainability.

Interest in high homogenization pressure technology has grown over the years. It is a green technology with low energy consumption that does not generate high CO emissions or polluting effluents. Its main food applications derive from its effect on particle size, causing a more homogeneous distribution of fluid elements (particles, globules, droplets, aggregates, etc.

[Prevalence and risk factors for sleep-disordered breathing in chilean schoolchildren].

Objectives: To describe the prevalence of sleep-disordered breathing (SDB) in Chilean schoolchil dren and study associated risk factors.

Patients And Method: We carried out a transversal and des criptive study. Questionnaires were sent to the parents of children attending first year of elementary school in the Metropolitan Region (Santiago), the Biobío Region (Concepción, Chillán, Yumbel) and the Magallanes Region (Porvenir and Puerto Natales).

Extensive Chest Wall Destruction Secondary to a Large Ventricle Pseudoaneurysm: A Surgical Challenge.

Left ventricular pseudoaneurysms have become a rare complication of acute myocardial infarction, occurring in approximately 2% of cases and even less frequently when primary percutaneous intervention can be performed. Regardless of treatment strategy, left ventricle pseudoaneurysms are associated with a high mortality rate. We report on the extremely rare occurrence of a patient surviving two episodes of free wall rupture associated with extensive chest wall destruction and secondary traumatic rib fractures.

Echogenic mobile images in intraprocedural three-dimensional transesophageal echocardiographic monitoring during percutaneous aortic valve implantation: Incidence, characteristics and clinical implications.

Introduction And Objectives: To investigate the incidence and clinical relevance of the presence of mobile echogenic images (MEI) during transesophageal echocardiography (TEE) for monitoring of transcatheter aortic valve implantation (TAVI).

Methods: Consecutive patients referred to our center for transfemoral or transapical TAVI were included. The procedure was monitored by three-dimensional (3D) TEE and images were analyzed by two independent experts.

Crystal structure of K0.75[Fe(II) 3.75Fe(III) 1.25(HPO3)6]·0.5H2O, an open-framework iron phosphite with mixed-valent Fe(II)/Fe(III) ions.

Single crystals of the title compound, potassium hexa-phosphito-penta-ferrate(II,III) hemihydrate, K0.75[Fe(II) 3.75Fe(III) 1.

Short- and long-term need for permanent pacemaker after transcatheter implantation of the Edwards Sapien aortic valve prosthesis.

Introduction: A permanent pacemaker is frequently needed after transcatheter aortic valve implantation, but the available data are mainly on the CoreValve system.

Objective: To evaluate the need for new permanent pacemaker after implantation of the Edwards Sapien device, as well as related factors.

Methods: We included the first 100 patients treated with the Edwards Sapien device at our institution.

Prognostic impact of decisions taken by the heart team in patients evaluated for transcatheter aortic valve implantation.

Objective: To analyze long-term survival and predictors of mortality in patients evaluated for transcatheter aortic valve implantation (TAVI) depending on the decision taken by the heart team.

Methods: All patients with severe aortic stenosis and high surgical risk evaluated for TAVI between June 2008 and June 2012 were included. Patients were grouped according to the therapeutic strategy decided by the heart team.

Hereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge.

Hereditary renal amyloidosis is an autosomal dominant condition with considerable overlap with other amyloidosis types. Differential diagnosis is complicated, but is relevant for prognosis and treatment. We describe a patient with nephrotic syndrome and progressive renal failure, who had a mother with renal amiloidosis.

Long-term Follow-up After Transcatheter Aortic Valve Implantation for Severe Aortic Stenosis.

Introduction And Objectives: Transcatheter aortic valve implantation is used as an alternative to surgical valve replacement in patients with severe aortic stenosis who are considered high-surgical-risk or inoperable. Two of the main areas of uncertainty in this field are valve durability and long-term survival.

Methods: This prospective single-center registry study from a tertiary hospital included all consecutive patients who underwent percutaneous aortic valve implantation between 2008 and 2012.

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare.

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.

Crystal structure of (NH4)2[Fe(II) 5(HPO3)6], a new open-framework phosphite.

Di-ammonium hexa-phosphito-penta-ferrate(II), (NH4)2[Fe5(HPO3)6], was synthesized under mild hydro-thermal conditions and autogeneous pressure, yielding twinned crystals. The crystal structure exhibits an [Fe(II) 5(HPO3)6](2-) open framework with NH4 (+) groups as counter-cations. The anionic skeleton is based on (001) sheets of [FeO6] octa-hedra (one with point-group symmetry 3.

Immediate and mid-term clinical course after percutaneous closure of paravalvular leakage.

Introduction And Objectives: Percutaneous closure of paravalvular leakage is an alternative to surgery in high-risk patients, but its use has been limited by a lack of specific devices. More appropriate devices-like the Amplatzer Vascular Plug III-have recently been developed, but information about their efficacy and safety is still scarce. The objective of the present study was to assess the mid-term results of paravalvular leakage closure with this device.

Thermal response, catalytic activity, and color change of the first hybrid vanadate containing Bpe guest molecules.

Four isomorphic compounds with formula [{Co2(H2O)2(Bpe)2}(V4O12)]·4H2O·Bpe, CoBpe 1; [{CoNi(H2O)2(Bpe)2}(V4O12)]·4H2O·Bpe, CoNiBpe 2; [{Co0.6Ni1.4(H2O)2(Bpe)2}(V4O12)]·4H2O·Bpe, NiCoBpe 3; and [{Ni2(H2O)2(Bpe)2}(V4O12)]·4H2O·Bpe, NiBpe 4, have been obtained by hydrothermal synthesis.

Amine templated open-framework vanadium(III) phosphites with catalytic properties.

Four novel amine templated open-framework vanadium(III) phosphites with the formula (C(5)N(2)H(14))(0.5)[V(H(2)O)(HPO(3))(2)], 1 (C(5)N(2)H(14) = 2-methylpiperazinium), and (L)(4-x)(H(3)O)(x)[V(9)(H(2)O)(6)(HPO(3))(14-y)(HPO(4))(y)(H(2)PO(3))(3-z)(H(2)PO(4))z]·nH(2)O (2, L = cyclopentylammonium, x = 0, y = 3.5, z = 3, n = 0; , L = cyclohexylammonium, x = 1, y = 0, z = 0.

Synthesis and comparative study of Co(pym)(VO3)2 and [Co(H2O)2(VO3)2]·2H2O.

The three-dimensional Co(pym)(VO(3))(2), 1, hybrid compound, where pym is pyrimidine, has been synthesized under mild hydrothermal conditions at 120 °C. The compound has been characterized by FT-IR spectroscopy, elemental analysis, thermogravimetric measurements, thermodiffractometry, UV-Vis spectroscopy, temperature-dependent magnetic susceptibility and magnetization, and finally a study of specific heat has been performed. The crystal structure of 1 was solved using single-crystal X-ray diffraction data, taking into account that the crystals of this compound are twins of two components.

Flexible and dynamic thermal behavior of self-catenated [{Ni3(H2O)3(Bpa)4}(V6O18)]·8H2O constructed from 10-c heterometallic inorganic-organic clusters.

The hydrothermal treatment of Ni(NO(3))(2)·6H(2)O, NaVO(3), and Bpa (1,2-Di(pyridyl)ethane) (C(12)H(12)N(2)) at 120 °C during 3 days leads to green single crystals of the title compound. The single crystal X-ray diffraction reveals that [{Ni(3)(H(2)O)(3)(Bpa)(4)}(V(6)O(18))]·8H(2)O crystallizes in the monoclinic system, P2(1)/c space group, with a = 13.5536 (2), b = 19.

Clinical and prognostic implications of atrial fibrillation in patients undergoing transcatheter aortic valve implantation.

Aim: To study a cohort of consecutive patients undergoing transcatheter aortic valve implantation (TAVI) and compare the outcomes of atrial fibrillation (AF) patients vs patients in sinus rhythm (SR).

Methods: All consecutive patients undergoing TAVI in our hospital were included. The AF group comprised patients in AF at the time of TAVI or with history of AF, and were compared with the SR group.

Enhancement of the luminescent properties of a new red-emitting phosphor, Mn2(HPO3)F2, by Zn substitution.

The Mn(2)(HPO(3))F(2) phase has been synthesized as single crystals by using mild hydrothermal conditions. The compound crystallizes in the orthorhombic Pnma space group, with unit cell parameters of a = 7.5607(8), b = 10.

M(C6H16N3)2(VO3)4 as heterogeneous catalysts. Study of three new hybrid vanadates of cobalt(II), nickel(II) and copper(II) with 1-(2-aminoethyl)piperazonium.

Three new hybrid vanadates have been synthesized under hydrothermal conditions with the formula M(C(6)H(16)N(3))(2)(VO(3))(4), where M = Co(II), Ni(II) and Cu(II). The structural analyses show that the phases are isostructural and crystallize in the monoclinic space group P2(1)/c. These compounds show a two-dimensional crystal structure, with sheets composed of [VO(3)](n)(n-) chains and metal centres octahedrally coordinated, chelated by two 1-(2-aminoethyl)piperazonium ligands.

Causes of peri-operative mortality after transcatheter aortic valve implantation: a pooled analysis of 12 studies and 1223 patients.

Background: In order to improve technique and to prevent serious procedural complications during transcatheter aortic valve implantation (TAVI), it is crucial to identify the causes of death of patients undergoing this procedure.

Objective: The objective of this study was to identify the causes of death during the procedure and at 1 month in patients with severe aortic stenosis undergoing TAVI.

Methods: 12 published studies with information about the causes of death in patients undergoing TAVI were selected.