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1.
J Clin Rheumatol ; 28(6): 285-292, 2022 Sep 01.
Article in English | MEDLINE | ID: mdl-35612589

ABSTRACT

BACKGROUND/OBJECTIVE: Data on IgG4-related disease (IgG4-RD) come almost exclusively from cohorts from Asia, Europe, and North America. We conducted this study to describe the clinical presentation, phenotype distribution, and association with sex, ethnicity, and serological markers in a large cohort of Latin American patients with IgG4-RD. METHODS: We performed a multicenter medical records review study including 184 Latin American IgG4-RD patients. We assigned patients to clinical phenotypes: group 1 (pancreato-hepato-biliary), group 2 (retroperitoneal/aortic), group 3 (head and neck-limited), group 4 (Mikulicz/systemic), and group 5 (undefined). We focused the analysis on how sex, ethnicity, and clinical phenotype may influence the clinical and serological presentation. RESULTS: The mean age was 50.8 ± 15 years. Men and women were equally affected (52.2% vs 48.8%). Fifty-four patients (29.3%) were assigned to group 1, 21 (11.4%) to group 2, 57 (30.9%) to group 3, 32 (17.4%) to group 4, and 20 (10.8%) to group 5. Male sex was associated with biliary tract (odds ratio [OR], 3.4; 95% confidence interval [CI], 1.36-8.26), kidney (OR, 3.4; 95% CI, 1.28-9.25), and retroperitoneal involvement (OR, 5.3; 95% CI, 1.45-20). Amerindian patients presented more frequently with atopy history and gallbladder involvement. Group 3 had a female predominance. CONCLUSIONS: Latin American patients with IgG4-RD were younger, and men and women were equally affected compared with White and Asian cohorts. They belonged more commonly to group 1 and group 3. Retroperitoneal and aortic involvement was infrequent. Clinical and serological features differed according to sex, ethnicity, and clinical phenotype.


Subject(s)
Immunoglobulin G4-Related Disease , Adult , Aged , Ethnicity , Female , Humans , Immunoglobulin G , Latin America , Male , Middle Aged , Phenotype
2.
Biology (Basel) ; 9(12)2020 Dec 14.
Article in English | MEDLINE | ID: mdl-33327594

ABSTRACT

HLA-DRB1 shared epitope (SE) alleles are important genetic contributors for the risk of developing anti-citrullinated protein antibodies (ACPA)-positive rheumatoid arthritis (RA), particularly in Caucasians. We aimed to analyze the contribution of HLA-DRB1 alleles and single nucleotide polymorphisms (SNPs) within the major histocompatibility complex (MHC) region to the susceptibility to develop ACPA-positive RA in a Latin American (LA) population with admixed ancestry. A total of 289 ACPA-positive RA patients and 510 controls were enrolled in this study. The presence of HLA-DRB1*04:01, *09:01 and *10:01 was increased in ACPA-positive RA patients compared with healthy controls (p < 0.0001, p < 0.001 and p < 0.01, respectively), whereas DRB1*07:01 and *08:02 was associated with a decreased risk of ACPA-positive RA (p < 0.001 and p < 0.01, respectively). These results showed a strong correlation with estimates from studies in Asians but not in Caucasian populations. The present study describes the protective effects of the HLA-DRB1*07:01 and *08:02 alleles in ACPA-positive RA patients in a LA population for the first time. Identifying relationships between HLA-DRB1 alleles and RA is important for identifying disease associations in different ethnic groups in order to reach a better understanding of RA worldwide.

3.
Acta Derm Venereol ; 99(12): 1078-1084, 2019 Nov 01.
Article in English | MEDLINE | ID: mdl-31453631

ABSTRACT

The aim of this 12-week randomized, double-blind, placebo-controlled trial was to determine the efficacy and safety of a probiotic mixture in the reduction of psoriasis severity. Ninety 18-70-year-old adults with plaque psoriasis were randomized into probiotic and placebo groups. At 12-week follow-up, 66.7% of patients in the probiotic group and 41.9% in the placebo group showed a reduction in Psoriasis Area and Severity Index of up to 75% (p < 0.05). A clinically relevant difference was observed in Physician Global Assessment index: 48.9% in the probiotic group achieved a score of 0 or 1, compared with 30.2% in the placebo group. The results of follow-up 6 months after the end of the study showed a lower risk of relapse after the intake of the probiotic mixture. Analysis of gut microbiota confirmed the efficacy of the probiotic in modulation of the microbiota composition.


Subject(s)
Gastrointestinal Microbiome , Probiotics/administration & dosage , Psoriasis/therapy , Administration, Oral , Adolescent , Adult , Aged , Double-Blind Method , Female , Humans , Male , Middle Aged , Probiotics/adverse effects , Psoriasis/diagnosis , Psoriasis/immunology , Psoriasis/microbiology , Recurrence , Remission Induction , Spain , Time Factors , Treatment Outcome , Young Adult
4.
Anal Chem ; 91(12): 7621-7630, 2019 06 18.
Article in English | MEDLINE | ID: mdl-31117402

ABSTRACT

Depending on the source and relative humidity, aerosols can have different compositional, morphological, and viscoelastic properties. Aerosol studies determining the relationship between these properties and their combined effect on the climate and environment are important. This work aims to correlate the 3D morphology, phase state, and viscoelastic properties of selected single-component chemical systems found in sea spray aerosol (SSA) that were substrate-deposited on a solid surface, studied with atomic force microscopy (AFM). Specifically, two inorganic salts (NaCl and MgSO4), four organic acids (malonic, glutaric, azelaic, and palmitic acids), three saccharides (glucose, sucrose, and raffinose), and lipopolysaccharide from Escherichia coli were studied. Furthermore, three inorganic-organic binary chemical mixtures (NaCl-malonic acid, NaCl-glucose, and MgSO4-glucose) at 1:3 and 3:1 mass ratio were studied. AFM imaging and force spectroscopy at 20% relative humidity were performed to record 3D height images of individual particles and measure force-distance plots, respectively. First, by utilizing combined relative indentation depth (RID) and viscoelastic response distance (VRD) data obtained from the force-distance plots, we establish quantitative framework toward differentiation of the solid, semisolid and liquid phase states of individual particles without prior knowledge of their chemical identity. Second, we show that the single particle aspect ratio (AR) of a wide range of compounds relevant to SSA is a measure of the extent of the particle spreading as a result of impaction with the solid substrate, which can be directly related to the RID and VRD results. Thus, we demonstrate that a quick height imaging and determination of a single particle AR can be used to assess the phase state. Therefore, we introduce the ability to semiquantitatively assess the phase states of individual substrate deposited particles of SSA-relevant compounds, irrespective of the microscopy technique used, which can subsequently be further validated by more quantitative AFM force spectroscopy.


Subject(s)
Microscopy, Atomic Force/methods , Aerosols/chemistry , Elastic Modulus , Inorganic Chemicals/chemistry , Malonates/chemistry , Organic Chemicals/chemistry , Particle Size , Sodium Chloride/chemistry , Viscosity
5.
Database (Oxford) ; 20192019 01 01.
Article in English | MEDLINE | ID: mdl-30715274

ABSTRACT

The collection and integration of all the known protein-protein physical interactions within a proteome framework are critical to allow proper exploration of the protein interaction networks that drive biological processes in cells at molecular level. APID Interactomes is a public resource of biological data (http://apid.dep.usal.es) that provides a comprehensive and curated collection of `protein interactomes' for more than 1100 organisms, including 30 species with more than 500 interactions, derived from the integration of experimentally detected protein-to-protein physical interactions (PPIs). We have performed an update of APID database including a redefinition of several key properties of the PPIs to provide a more precise data integration and to avoid false duplicated records. This includes the unification of all the PPIs from five primary databases of molecular interactions (BioGRID, DIP, HPRD, IntAct and MINT), plus the information from two original systematic sources of human data and from experimentally resolved 3D structures (i.e. PDBs, Protein Data Bank files, where more than two distinct proteins have been identified). Thus, APID provides PPIs reported in published research articles (with traceable PMIDs) and detected by valid experimental interaction methods that give evidences about such protein interactions (following the `ontology and controlled vocabulary': www.ebi.ac.uk/ols/ontologies/mi; developed by `HUPO PSI-MI'). Within this data mining framework, all interaction detection methods have been grouped into two main types: (i) `binary' physical direct detection methods and (ii) `indirect' methods. As a result of these redefinitions, APID provides unified protein interactomes including the specific `experimental evidences' that support each PPI, indicating whether the interactions can be considered `binary' (i.e. supported by at least one binary detection method) or not.


Subject(s)
Computational Biology/methods , Databases, Protein , Protein Interaction Mapping/methods , Protein Interaction Maps , Animals , Humans , Internet , Mice , Software
6.
JMM Case Rep ; 5(2): e005137, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29568534

ABSTRACT

INTRODUCTION: Ignavigranum ruoffiae is an extremely rare cause of human infections. CASE PRESENTATION: An 83-year-old male with a painless, ten-day-old, erythematous skin abscess on his left flank, which had showed a purulent discharge for 48 h, was admitted to the Emergency service. He was treated with cephalexin, disinfection with Codex water and spray of rifampicin. Five days later, surgical drainage of the abscess was proposed due to the torpid evolution of the patient. Samples were taken for culture, and antibiotic treatment with trimethoprim-sulfamethoxazole was established. The patient returned after 10 days showing healing of the abscess. Microbiological studies showed a few Gram-positive cocci present as single cells and short chains that grew after 72 h of incubation at 35 °C with CO2 on 5 % sheep blood agar. Colonies presented a strong sauerkraut odour. Initial biochemical test results were negative for catalase, aesculin and bile-aesculin, and positive for pyrrolidonyl arylamidase, leucine aminopeptidase and growth in 6.5 % NaCl broth, which prompted the preliminary identification of Facklamia species or I. ruoffiae. The positive result for arginine deamination and negative result for hippurate hydrolysis, failure to produce acid from mannitol, sucrose, sorbitol or trehalose, plus the distinctive sauerkraut odour identified the organism as I. ruoffiae. The phenotypic identification was confirmed by 16S rRNA gene sequence analysis. The strain seemed to be susceptible to the antimicrobials tested but had decreased susceptibility to carbapenems. CONCLUSION: This case provides more insights into the phenotypic characteristics and antimicrobial resistance profile of I. ruoffiae.

7.
Rev. chil. reumatol ; 33(4): 157-164, 2017. ilus, tab
Article in Spanish | LILACS | ID: biblio-1254074

ABSTRACT

La artritis reumatoide (AR) es una enfermedad sistémica crónica y autoinmune, que afecta principalmente a las articulaciones sinoviales. Al igual que ocurre con muchas enfermedades autoinmunes, la etiología de la AR es multifactorial y desconocida. La susceptibilidad genética es evidente en AR, situando su heredabilidad en aproxima-damente el 60%. La importancia del conocimiento de los factores genéticos asociados con la AR se sitúa en la contribución a la comprensión de los mecanismos patogénicos de la enfermedad, así como a su aplicación clínica que nos acerque a un tratamiento más personalizado de los pacientes por medio de marcadores de riesgo, diagnóstico y/o pronóstico. En este artículo se revisan los factores genéticos de la AR, y se hace una aproximación a la situación en poblaciones latinoamericanas en general, y chile-na en particular.


Rheumatoid arthritis (RA) is an autoimmune inflammatory rheumatic disease that affects many tissues and organs, mainly synovial joints. Like many autoimmune dis-eases, the etiology of RA is multifactorial and unknown. Genetic susceptibility is evi-dent in RA, with its heritability around the 60%.The relevance of the knowledge of the genetic factors associated with RA relies on its contribution to the understanding of the pathological mechanisms of the disease, and the clinical applicability. This better understanding let us develop a more personalized treatment through genetic markers for risk, diagnostic and prognostic. In this paper, genetic factors of RA are reviewed and a general view of the Latin American populations, and particularly Chilean, is made.


Subject(s)
Humans , Arthritis, Rheumatoid/genetics , Genetic Predisposition to Disease , Autoimmune Diseases , Genetic Variation , Ethnicity , Chile/epidemiology , Genetic Association Studies
8.
Medicine (Baltimore) ; 95(51): e5652, 2016 12.
Article in English | MEDLINE | ID: mdl-28002334

ABSTRACT

The aim of the study was to compare clinical manifestations, disease activity, functional capacity, spinal mobility, and radiological findings between men and women from a multicenter, multiethnic Ibero-American cohort of patients with Spondyloarthritis (SpA).This observational cross-section study included 1264 consecutive SpA patients who fulfilled the modified New York criteria for ankylosing spondylitis (AS). Demographic, clinical, and radiologic data were evaluated. Categorical data were compared by X or Fisher's exact tests and continuous variables by ANOVA with post-hoc tests.Primary AS was diagnosed in 1072 patients, psoriatic spondylitis in 147, and spondylitis associated to inflammatory bowel disease (IBD) in 45 patients. Overall, male patients were significantly younger, had longer diagnostic delay, lower disease activity, worse spinal mobility, better quality of life, and more severe radiologic damage. Dactylitis and enthesitis, as well as swollen joint count, were significantly more common among women. In primary AS, there was a marked male predominance (76.2%). Among patients with psoriatic spondylitis, male predominance was lower (57.8%), but was also associated with worse spinal mobility and more severe radiologic damage. In the total population, male patients with primary AS referred higher permanent work disability (13.2% vs 6.9%; P < 0.05), although no difference was observed in psoriatic or IBD spondylitis according to the gender.Among Ibero-American SpA patients, there are some differences in clinical and radiological manifestations, men showing more structural damage, whereas women more active disease. These data suggest that the phenotype of SpA differs between genders. This can influence the subsequent diagnostic approach and therapeutic decisions.


Subject(s)
Arthritis, Psoriatic/pathology , Inflammatory Bowel Diseases/pathology , Spondylitis, Ankylosing/pathology , Spondylitis/pathology , Adult , Age Factors , Arthritis, Psoriatic/complications , Arthritis, Psoriatic/diagnostic imaging , Cross-Sectional Studies , Female , Humans , Inflammatory Bowel Diseases/complications , Latin America/epidemiology , Male , Middle Aged , Radiography , Sex Factors , Spondylitis/diagnostic imaging , Spondylitis/etiology , Spondylitis, Ankylosing/diagnostic imaging , Spondylitis, Ankylosing/epidemiology
9.
Rev. argent. microbiol ; 48(4): 303-307, dic. 2016. ilus, tab
Article in Spanish | LILACS | ID: biblio-1041766

ABSTRACT

La especie Dermabacter hominis está constituida por bacilos gram positivos corineformes, anaerobios facultativos, que forman parte de la microbiota residente de la piel. Excepcionalmente se ha asociado a estos microorganismos con infecciones en pacientes inmunocomprometidos o muy debilitados. Se describe el caso de una mujer adulta joven, inmunocompetente, con un quiste sebáceo en el cuello, infectado por D. hominis como único agente etiológico. Se logró la identificación fenotípica del agente causal mediante pruebas simples basadas en el esquema originalmente propuesto por Funke y Bernard, factibles de ser realizadas en un laboratorio hospitalario de microbiología. Características fenotípicas como la morfología cocoide, el olor acre/espermático, la hidrólisis de la esculina, la producción de pirrolidonil arilamidasa y de lisina y ornitina descarboxilasas son pruebas claves en la identificación de D. hominis. La espectrometría de masas (MALDI-TOF MS) confirmó la identificación fenotípica.


Dermabacter hominis species is constituted by Gram positive facultative anaerobic coryneform rods being part of the resident microbiota human skin, and exceptionally associated to infections in immunocompromised or severely debilitated patients. An immunocompetent young adult woman with a neck sebaceous cyst infected by D. hominis as unique etiologic agent is presented. Phenotypic identification of the causative agent was achieved through simple tests, based on the originally scheme proposed by Funke and Bernard, and feasible to be performed in a hospital Microbiology Laboratory. Phenotypic characteristics as coccoid morphology, the acrid/spermatic odor, esculin hydrolysis, the production of pyrrolidonyl-arylamidase, lysine and ornithine decarboxylase, are key tests to identify D. hominis. The matrix-asisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) confirmed the phenotypic identification.


Subject(s)
Humans , Female , Middle Aged , Skin/microbiology , Epidermal Cyst/microbiology , Skin/physiopathology , Mass Spectrometry/methods
10.
Rev Argent Microbiol ; 48(4): 303-307, 2016.
Article in Spanish | MEDLINE | ID: mdl-27773466

ABSTRACT

Dermabacter hominis species is constituted by Gram positive facultative anaerobic coryneform rods being part of the resident microbiota human skin, and exceptionally associated to infections in immunocompromised or severely debilitated patients. An immunocompetent young adult woman with a neck sebaceous cyst infected by D. hominis as unique etiologic agent is presented. Phenotypic identification of the causative agent was achieved through simple tests, based on the originally scheme proposed by Funke and Bernard, and feasible to be performed in a hospital Microbiology Laboratory. Phenotypic characteristics as coccoid morphology, the acrid/spermatic odor, esculin hydrolysis, the production of pyrrolidonyl-arylamidase, lysine and ornithine decarboxylase, are key tests to identify D. hominis. The matrix-asisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) confirmed the phenotypic identification.


Subject(s)
Abscess/microbiology , Actinomycetales Infections/microbiology , Epidermal Cyst/microbiology , Micrococcaceae/isolation & purification , Abscess/etiology , Abscess/surgery , Actinomycetales Infections/etiology , Actinomycetales Infections/surgery , Bacterial Proteins/analysis , Bacterial Typing Techniques , Drainage , Drug Resistance, Multiple, Bacterial , Epidermal Cyst/complications , Female , Humans , Immunocompetence , Micrococcaceae/drug effects , Micrococcaceae/enzymology , Middle Aged
11.
J Plant Res ; 129(6): 1085-1096, 2016 Nov.
Article in English | MEDLINE | ID: mdl-27590132

ABSTRACT

Studies of pollen wall development produce a great deal of morphological data that supplies useful information regarding taxonomy and systematics. We present the exine development of Euptelea and Pteridophyllum, two taxa whose pollen wall development has never previously been studied using transmission electron microscopy. Both genera are representatives of the two earliest-diverging families of the order Ranunculales and their pollen data are important for the diagnosis of the ancestral pollen features in eudicots. Our observations show these genera are defined by having microechinate microreticulate exine ornamentation, perforate tectum, columellate morphology of the infratectum and the existence of a foot layer and endexine. The presence of lamellations is detected during the early stages of development in the nexine of both genera, especially in the apertures. Euptelea presents remains of the primexine layer during the whole maturation process, a very thin foot layer, and a laminate exinous oncus in the apertural region formed by ectexine and endexine elements. Pteridophyllum has a thicker tectum than Euptelea, a continuous foot layer and a thicker endexine. In the apertures, the exinous oncus is formed by islets and granules of endexine, in contrast to the Euptelea apertures. The secretory tapetum produces orbicules in both genera, but they have different morphology and electron-density. Comparisons with pollen data from related orders and families confirm the ancestral states for the pollen of eudicots proposed in previous studies: reticulate and echinate surfaces, columellate infractectum and a thin foot layer relative to the thickness of the ectexine. According to our observations, we propose considering the possibility of a polymorphic state for the aperture number in the ancestor of Ranunculales, and suggest the development of orbicules as the ancestral state in this order.


Subject(s)
Biological Evolution , Magnoliopsida/growth & development , Pollen/growth & development , Fumariaceae/growth & development , Fumariaceae/ultrastructure , Magnoliopsida/ultrastructure , Microscopy, Electron, Transmission , Pollen/ultrastructure , Species Specificity
12.
Nucleic Acids Res ; 44(W1): W529-35, 2016 Jul 08.
Article in English | MEDLINE | ID: mdl-27131791

ABSTRACT

APID (Agile Protein Interactomes DataServer) is an interactive web server that provides unified generation and delivery of protein interactomes mapped to their respective proteomes. This resource is a new, fully redesigned server that includes a comprehensive collection of protein interactomes for more than 400 organisms (25 of which include more than 500 interactions) produced by the integration of only experimentally validated protein-protein physical interactions. For each protein-protein interaction (PPI) the server includes currently reported information about its experimental validation to allow selection and filtering at different quality levels. As a whole, it provides easy access to the interactomes from specific species and includes a global uniform compendium of 90,379 distinct proteins and 678,441 singular interactions. APID integrates and unifies PPIs from major primary databases of molecular interactions, from other specific repositories and also from experimentally resolved 3D structures of protein complexes where more than two proteins were identified. For this purpose, a collection of 8,388 structures were analyzed to identify specific PPIs. APID also includes a new graph tool (based on Cytoscape.js) for visualization and interactive analyses of PPI networks. The server does not require registration and it is freely available for use at http://apid.dep.usal.es.


Subject(s)
Protein Interaction Mapping/standards , Protein Interaction Maps , Proteome/metabolism , Software , Animals , Databases, Protein , Humans , Internet , Protein Binding , Reproducibility of Results
13.
Traffic Inj Prev ; 17(3): 278-83, 2016.
Article in English | MEDLINE | ID: mdl-26865038

ABSTRACT

OBJECTIVE: This article develops and validates a new methodology and tool for rescue assistance in traffic accidents, with the aim of improving its efficiency and safety in the evacuation of people, reducing the number of victims in road accidents. METHOD: Different tests supported by professionals and experts have been designed under different circumstances and with different categories of damaged vehicles coming from real accidents and simulated trapped victims in order to calibrate and refine the proposed methodology and tool. RESULTS: To validate this new approach, a tool called App_Rescue has been developed. This tool is based on the use of a computer system that allows an efficient access to the technical information of the vehicle and sanitary information of the common passengers. The time spent during rescue using the standard protocol and the proposed method was compared. CONCLUSION: This rescue assistance system allows us to make vital information accessible in posttrauma care services, improving the effectiveness of interventions by the emergency services, reducing the rescue time and therefore minimizing the consequences involved and the number of victims. This could often mean saving lives. In the different simulated rescue operations, the rescue time has been reduced an average of 14%.


Subject(s)
Accidents, Traffic , Emergency Medical Services/methods , Accidents, Traffic/statistics & numerical data , Efficiency , Humans , Safety , Time Factors
14.
Mol Phylogenet Evol ; 88: 75-92, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25862377

ABSTRACT

Fumitories (subfamily Fumarioideae, Papaveraceae) represent, by their wide mainly northern temperate distribution (also present in South Africa) a suitable plant group to use as a model system for studying biogeographical links between floristic regions of the Northern Hemisphere and also the Southern Hemisphere Cape region. However, the phylogeny of the entire Fumarioideae subfamily is not totally known. In this work, we infer a molecular phylogeny of Fumarioideae, which we use to interpret the biogeographical patterns in the subfamily and to establish biogeographical links between floristic regions, such as those suggested by its different inter- and intra-continental disjunctions. The tribe Hypecoeae is the sister group of tribe Fumarieae, this latter holding a basal grade of monotypic or few-species genera with bisymmetric flowers, and a core group, Core Fumarieae, of more specious rich genera with zygomorphic flowers. The biogeographical analysis shows a subfamily that originated in East Asia at the end of the Early Cretaceous. From here, ancestral range expansions followed three different directions, one at the beginning of the Late Cretaceous by the ancestor of tribe Hypecoeae towards central Asia, and two during the Cretaceous-Palaeogene transition towards western North America and Indochina by the ancestor of the tribe Fumarieae. The ancestor of Core Fumarieae expanded its range from East Asia into the Himalayas before to the middle Eocene. The uplifts of the Qinghai-Tibetan Plateau together with the zonal climate pattern of the Palaeogene are suggested to be responsible both for the accelerated diversification rate resulting in the origin of the basal lineages of Core Fumarieae as well as for the westward migration of the ancestor of Fumarieae s.str. into the Irano-Turanian region. From here, this latter group reached South Africa during late Eocene and Mediterranean basin during Oligocene. There were two colonization waves of the Mediterranean following two different routes: a northern route during the early Oligocene by the subtribe Sarcocapninae, probably facilitated by the land bridge resulting of the Mediterranean microplate accretion; and a southern route into North Africa, through the Gomphotherium land bridge, taken by the subtribe Fumariinae between late Oligocene and middle Miocene.


Subject(s)
Papaveraceae/classification , Phylogeny , Biological Evolution , Climate , Geological Phenomena , Papaveraceae/genetics , Phylogeography
15.
Rev Med Chil ; 142(9): 1165-73, 2014 Sep.
Article in Spanish | MEDLINE | ID: mdl-25517057

ABSTRACT

Ankylosing spondylitis (AS) is a prototypical inflammatory disease of the locomotor system affecting axial skeleton. It is part of the general group of spondyloarthopathies (SpA). Its strong association with histocompatibility antigen HLA-B27 is known since 1973. However, HLA-B27 contribution to AS genetic risk is approximately 16%. Therefore, other genes are necessarily involved in the pathogenesis of the disease. Genomic development and the possibility of making genome wide screening have contributed enormously to the study of the disease. In this paper, we describe the actual knowledge about AS genetic risk, which has contributed to understand the influence of HLA-B27 on the etiology and pathogenesis of the disease. We also intend to foresee how these findings will result in an improvement of patients'’ quality of life.


Subject(s)
Genetic Predisposition to Disease , HLA-B27 Antigen/genetics , Spondylitis, Ankylosing/genetics , Female , Humans , Male
16.
Rev. méd. Chile ; 142(9): 1165-1173, set. 2014. ilus, tab
Article in Spanish | LILACS | ID: lil-730288

ABSTRACT

Ankylosing spondylitis (AS) is a prototypical inflammatory disease of the locomotor system affecting axial skeleton. It is part of the general group of spondyloarthopathies (SpA). Its strong association with histocompatibility antigen HLA-B27 is known since 1973. However, HLA-B27 contribution to AS genetic risk is approximately 16%. Therefore, other genes are necessarily involved in the pathogenesis of the disease. Genomic development and the possibility of making genome wide screening have contributed enormously to the study of the disease. In this paper, we describe the actual knowledge about AS genetic risk, which has contributed to understand the influence of HLA-B27 on the etiology and pathogenesis of the disease. We also intend to foresee how these findings will result in an improvement of patients’ quality of life.


Subject(s)
Female , Humans , Male , Genetic Predisposition to Disease , /genetics , Spondylitis, Ankylosing/genetics
17.
Clin Exp Rheumatol ; 31(4): 484-9, 2013.
Article in English | MEDLINE | ID: mdl-23899968

ABSTRACT

OBJECTIVES: This study analysed the frequency of anterior uveitis (AU) and its correlations in a large cohort of patients with spondyloarthritis (SpA). METHODS: A common protocol of investigation was prospectively applied to 2012 SpA patients in 85 centres from 10 Ibero-American countries. Clinical and demographic variables and disease indexes were investigated. Categorical variables were compared by χ2 and Fisher's exact test, and continuous variables were compared by ANOVA or Kruskal-Wallis test. A value of p<0.05 was considered significant. RESULTS: AU was referred by 372 SpA patients (18.5%). AU was statistically associated with inflammatory low back pain (p<0.001), radiographic sacroiliitis (p<0.001), enthesopathies (p=0.004), urethritis/acute diarrhoea (p<0.001), balanitis (p=0.002), hip involvement (p=0.002), HLA-B27 (p=0.003), and higher C-reactive protein (p=0.001), whilst it was negatively associated with the number of painful (p=0.03) and swollen (p=0.005) peripheral joints, psoriatic arthritis (p<0.001), psoriasis (p<0.001), nail involvement (p<0.001), and dactilitis (p=0.062; trend). No association with gender, race, and indices (disease activity, functionality and quality of life) was observed. Logistic regression showed that ankylosing spondylitis (p=0.001) and HLA-B27 (p=0.083; trend) was significantly associated with AU, while extra-articular manifestations (predominantly psoriasis) were negatively associated (p=0.016). CONCLUSIONS: Anterior uveitis is a frequent extra-articular manifestation in SpA patients, positively associated with axial involvement and HLA-B27 and negatively associated with peripheral involvement and psoriatic arthritis.


Subject(s)
HLA-B27 Antigen/metabolism , Psoriasis/epidemiology , Spondylarthritis/epidemiology , Uveitis, Anterior/epidemiology , Adolescent , Adult , Central America/epidemiology , Female , Humans , Joints/pathology , Logistic Models , Male , Middle Aged , Prevalence , Prospective Studies , Psoriasis/metabolism , Psoriasis/pathology , Registries/statistics & numerical data , South America/epidemiology , Spondylarthritis/metabolism , Spondylarthritis/pathology , Uveitis, Anterior/metabolism , Uveitis, Anterior/pathology , Young Adult
18.
Rev. méd. Chile ; 141(8): 1041-1048, ago. 2013. ilus, tab
Article in Spanish | LILACS | ID: lil-698703

ABSTRACT

For years the mainstay of antiphospholipid syndrome treatment has been anticoagulation and antiplatelet therapy, but the autoimmune nature of the disease, and complications of these therapies, created the need to develop new therapeutic strategies. New therapeutic alternatives inhibit at different levels, the cascade of events leading to the pro-thrombotic state characteristic of the antiphospholipid syndrome. We conducted a literature review of these new treatments, focusing on the pathophysiological bases that support them and their possible clinical applications.


Subject(s)
Humans , Antiphospholipid Syndrome/drug therapy , Agmatine/analogs & derivatives , Agmatine/therapeutic use , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Antiphospholipid Syndrome/physiopathology , Dipeptides/therapeutic use , Glucocorticoids/therapeutic use , Hydroxychloroquine/therapeutic use , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Thrombosis/drug therapy
19.
J Emerg Med ; 45(1): 78-85, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23602144

ABSTRACT

BACKGROUND: Principles of damage control resuscitation include minimizing intravenous fluid (IVF) administration while correcting perfusion pressure as quickly as possible. Recent studies have identified a potential advantage of vasopressin over catecholamines in traumatic shock. Terlipressin (TP) is a vasopressin analogue used to reverse certain shock etiologies in some European countries. STUDY OBJECTIVE: We evaluated three dosages of TP when combined with a limited colloid resuscitation strategy on mean arterial pressure (MAP) and lactatemia in a swine model of isolated hemorrhage. METHODS: Sixty anesthetized swine underwent intubation and severe hemorrhage. Subjects were randomized to one of four resuscitation groups: 4 mL/kg Hextend(®) (Hospira Inc, Lake Forest, IL) only, 3.75 µg/kg TP + Hextend, 7.5 µg/kg TP + Hextend, or 15 µg/kg TP + Hextend. MAP and heart rate were recorded every 5 min. Baseline and serial lactate values at 30-min intervals were recorded and compared. RESULTS: Subjects receiving 7.5 µg/kg TP had significantly higher MAPs at times t15 (p = 0.012), t20 (p = 0.004), t25 (p = 0.018), t30 (p = 0.032), t35 (p = 0.030), and t40 (p = 0.021). No statistically significant differences in lactate values between TP groups and controls were observed. CONCLUSION: Subjects receiving 7.5 µg/kg of TP demonstrated improved MAP within 10 min of administration. When combined with minimal IVF resuscitation, TP doses between 3.75 and 15 µg/kg do not elevate lactate levels in hemorrhaged swine.


Subject(s)
Hemorrhage/drug therapy , Lypressin/analogs & derivatives , Vasoconstrictor Agents/administration & dosage , Animals , Arterial Pressure/drug effects , Disease Models, Animal , Fluid Therapy , Heart Rate/drug effects , Hemorrhage/therapy , Lactic Acid/blood , Lypressin/administration & dosage , Swine , Terlipressin
20.
Rev Med Chil ; 141(8): 1041-8, 2013 Aug.
Article in Spanish | MEDLINE | ID: mdl-24448861

ABSTRACT

For years the mainstay of antiphospholipid syndrome treatment has been anticoagulation and antiplatelet therapy, but the autoimmune nature of the disease, and complications of these therapies, created the need to develop new therapeutic strategies. New therapeutic alternatives inhibit at different levels, the cascade of events leading to the pro-thrombotic state characteristic of the antiphospholipid syndrome. We conducted a literature review of these new treatments, focusing on the pathophysiological bases that support them and their possible clinical applications.


Subject(s)
Antiphospholipid Syndrome/drug therapy , Agmatine/analogs & derivatives , Agmatine/therapeutic use , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Antiphospholipid Syndrome/physiopathology , Dipeptides/therapeutic use , Glucocorticoids/therapeutic use , Humans , Hydroxychloroquine/therapeutic use , Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Rituximab , Thrombosis/drug therapy
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