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1.
Genes (Basel) ; 15(4)2024 04 09.
Article in English | MEDLINE | ID: mdl-38674407

ABSTRACT

Multidrug resistance (MDR) commonly leads to cancer treatment failure because cancer cells often expel chemotherapeutic drugs using ATP-binding cassette (ABC) transporters, which reduce drug levels within the cells. This study investigated the clinical characteristics and single nucleotide variant (SNV) in ABCB1, ABCC1, ABCC2, ABCC4, and ABCG2, and their association with mortality in pediatric patients with central nervous system tumors (CNST). Using TaqMan probes, a real-time polymerase chain reaction genotyped 15 SNPs in 111 samples. Patients were followed up until death or the last follow-up day using the Cox proportional hazards model. An association was found between the rs1045642 (ABCB1) in the recessive model (HR = 2.433, 95% CI 1.098-5.392, p = 0.029), and the ICE scheme in the codominant model (HR = 9.810, 95% CI 2.74-35.06, p ≤ 0.001), dominant model (HR = 6.807, 95% CI 2.87-16.103, p ≤ 0.001), and recessive model (HR = 6.903, 95% CI 2.915-16.544, p = 0.038) significantly increased mortality in this cohort of patients. An association was also observed between the variant rs3114020 (ABCG2) and mortality in the codominant model (HR = 5.35, 95% CI 1.83-15.39, p = 0.002) and the dominant model (HR = 4.421, 95% CI 1.747-11.185, p = 0.002). A significant association between the ICE treatment schedule and increased mortality risk in the codominant model (HR = 6.351, 95% CI 1.831-22.02, p = 0.004, HR = 9.571, 95% CI 2.856-32.07, p ≤ 0.001), dominant model (HR = 6.592, 95% CI 2.669-16.280, p ≤ 0.001), and recessive model (HR = 5.798, 95% CI 2.411-13.940, p ≤ 0.001). The genetic variants rs3114020 in the ABCG2 gene and rs1045642 in the ABCB1 gene and the ICE chemotherapy schedule were associated with an increased mortality risk in this cohort of pediatric patients with CNST.


Subject(s)
Central Nervous System Neoplasms , Multidrug Resistance-Associated Protein 2 , Polymorphism, Single Nucleotide , Humans , Male , Female , Child , Child, Preschool , Infant , Central Nervous System Neoplasms/genetics , Central Nervous System Neoplasms/mortality , Central Nervous System Neoplasms/pathology , Cohort Studies , Adolescent , Multidrug Resistance-Associated Proteins/genetics , ATP Binding Cassette Transporter, Subfamily G, Member 2/genetics , Genetic Markers/genetics , Neoplasm Proteins/genetics , ATP Binding Cassette Transporter, Subfamily B/genetics , Biomarkers, Tumor/genetics
2.
Taiwan J Obstet Gynecol ; 62(3): 412-416, 2023 May.
Article in English | MEDLINE | ID: mdl-37188445

ABSTRACT

OBJECTIVE: To assess the incidence of threatened preterm labor and preterm labor admissions and treatment of women with singleton gestations and no prior preterm birth before and after implementation of the universal mid-trimester transvaginal ultrasound cervical length screening. MATERIALS AND METHODS: A retrospective cohort study included of singleton gestations without a history of preterm birth presenting with threatened preterm labor between 24 0/7 and 36 6/7 gestational week in two study periods: before and after the implementation of the universal cervical length screening. Women with cervical length <25 mm were considered being at high risk for preterm birth and were prescribed a treatment with vaginal progesterone daily. The primary outcome was the incidence of threatened preterm labor. Secondary outcomes were the incidence of preterm labor. RESULTS: We have found a significant increase in the incidence of threatened preterm labor from 6.42% (410/6378) in 2011 to 11.61% (483/4158) in 2018 (p < 0.0001). Gestational age at triage consult was lower in than in 2011, although the rate of admission for threatened preterm labor was similar in both periods. There was a significant decrease in the incidence of preterm delivery <37 weeks from 25.60% in 2011 to 15.94% in 2018 (p < 0.0004). Although there was a reduction in preterm delivery ≤34 weeks, this reduction was not significant. CONCLUSION: The universal mid-trimester cervical length screening in asymptomatic women is not associated with a reduction in the frequency of threatened preterm labor or the admission rate for preterm labor, but reduces the rate of preterm births.


Subject(s)
Obstetric Labor, Premature , Premature Birth , Pregnancy , Female , Infant, Newborn , Humans , Premature Birth/epidemiology , Premature Birth/prevention & control , Retrospective Studies , Obstetric Labor, Premature/epidemiology , Obstetric Labor, Premature/prevention & control , Pregnancy Trimester, Second , Cervix Uteri/diagnostic imaging , Cervical Length Measurement
3.
CNS Neurol Disord Drug Targets ; 22(5): 634-642, 2023.
Article in English | MEDLINE | ID: mdl-35579144

ABSTRACT

BACKGROUND: Medulloblastomas (MB) are the most common malignant brain tumors in the pediatric age. In 2021, WHO categorized medulloblastomas into two groups: molecularly defined and histologically defined medulloblastomas. Molecularly defined medulloblastomas are divided into WNTactivated medulloblastoma, SHH-activated and TP53-wildtype medulloblastoma, SHH-activated, and TP53-mutant and non-WNT/non-SHH medulloblastoma, which include Group 3 (MYC) and Group 4 (CDK6 and MYCN). In this paper, we will focus on molecularly defined medulloblastomas. OBJECTIVE: This paper aims to review the literature in order to describe the molecular structure of the medulloblastoma groups and to emphasize the importance of genetic predictors in medulloblastoma that can be used in clinical practice, either as a prognostic tool or as a therapeutic target in the future. RESULTS: Each molecular subtype of medulloblastoma presents a different prognosis, and the molecular subtype with the best prognosis is medulloblastoma-activated WNT. It has even been observed that a reduction in the intensity of the combined treatment does not modify the prognosis of the patients, resulting in even fewer adverse effects due to the treatment. On the other hand, it was observed that the subtypes with the worst prognosis are medulloblastomas with activated MYC and medulloblastomas with activated SHH and mutated TP53, due to their high capacity to metastasize or to their radio-resistance. However, a new target therapy has emerged that could help improve the prognosis in these patients. CONCLUSION: The deeper knowledge of the molecular pathways involved in the appearance and progression of medulloblastomas will allow us to offer a prognosis at the time of diagnosis and more specific treatments through the development of the targeted therapy.


Subject(s)
Brain Neoplasms , Cerebellar Neoplasms , Medulloblastoma , Humans , Child , Medulloblastoma/genetics , Medulloblastoma/therapy , Medulloblastoma/metabolism , Genetic Markers , Cerebellar Neoplasms/genetics , Cerebellar Neoplasms/therapy , Cerebellar Neoplasms/metabolism , Brain Neoplasms/genetics , Brain Neoplasms/therapy , Combined Modality Therapy
4.
Prog. obstet. ginecol. (Ed. impr.) ; 62(5): 458-463, sept.-oct. 2019. tab
Article in Spanish | IBECS | ID: ibc-192128

ABSTRACT

OBJETIVO: valorar la frecuencia de las cesáreas realizadas en nuestro hospital empleando la clasificación estandarizada de Robson e identificar qué indicaciones son las que más contribuyen a la tasa global de cesáreas en nuestro centro. MATERIAL Y MÉTODOS: estudio retrospectivo, observacional sobre el total de cesáreas realizadas en el Hospital Universitario Cruces en un periodo de tres años (2015-2017). Para la inclusión de las gestantes en algunos de los 10 grupos de Robson hemos tenido en cuenta la paridad, edad gestacional, inicio del parto, presentación fetal y el número de fetos. RESULTADOS: durante este tiempo se han atendido un total de 15.112 partos; de los que 1.935 fueron cesárea (12,80%). El grupo que mayor incidencia tiene sobre el total de cesáreas realizadas es el grupo 2 (nulíparas, gestación única, presentación cefálica, ≥ 37 semanas, trabajo de parto inducido o cesárea antes del inicio del trabajo de parto) con una tasa del 30,64%, seguido del grupo 1 (nulíparas, gestación única, presentación cefálica, ≥ 37 semanas, trabajo de parto espontáneo) con un 19,22%. Al margen del grupo 9 (que incluye las cesáreas en presentaciones transversas), los grupos con un mayor porcentaje de cesáreas son el 6 (nulíparas, gestación única, presentación podálica) y 7 (multípara, gestación única, presentación podálica, incluidas las gestantes con cesárea anterior) con un 56,83% y 54,54% respectivamente. CONCLUSIONES: la clasificación de Robson es una buena herramienta para auditar clínicamente la tasa de cesáreas. Es fácil de implementar y permite evaluar el impacto del cambio en el manejo para cambiar dicha tasa. En nuestro centro, la protocolización adecuada de la atención a las presentaciones podálicas, gestaciones múltiples y cesáreas anteriores representa el mayor reto


OBJECTIVE: To apply the Robson 10-group classification system to identify which indications are the ones that contribute most to the cesarean section rate in our hospital. MATERIAL AND METHODS: A historical cohort study was performed on women who delivered in a 3-year period (2015-2017) at the Cruces University Hospital. Five parameters (parity including previous cesarean, gestational age, labor onset, fetal presentation, and plurality), identifiable on presentation for delivery, were used to classify all women included into 1 of 10 groups. The Robson distribution, cesarean rate, and contribution of each Robson group were analyzed, and the distribution of other outcomes was calculated for each Robson group. RESULTS: Of 15,112 deliveries, 1,935 (12.80%) were cesarean sections. Robson groups 1 (30.65%) and 3 (29.91%) (spontaneous term births) were the largest groups. Robson group 2 (single cephalic nulliparous women full-term, induced labor or cesarean section antepartum) and group 1 (single cephalic nulliparous women full-term in spontaneous labor) were the major contributors to the overall cesarean rate at 30.64% and 19.22% respectively. Besides group 9 (transverse lie), groups with higher cesarean rates are 6 (single breech, nulliparous) and 7 (single breech, multiparous, including previous cesarean section), with 56.83% and 54.54% respectively. CONCLUSIONS: The Robson classification is a good tool to clinical audit cesarean section rates. Is easy to implement and interpret and allows to evaluate the impact of changes in management that may alter these rates. In our hospital breech presentations, multiple pregnancy and previous cesarean section are the main challenges


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Cesarean Section/statistics & numerical data , Hospitals, University/statistics & numerical data , Retrospective Studies , Incidence , Spain
5.
J Rheumatol ; 44(12): 1804-1812, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29093158

ABSTRACT

OBJECTIVE: To define whether Amerindian genetic ancestry correlates with clinical and therapeutic variables in admixed individuals with rheumatoid arthritis (RA) from Latin America. METHODS: Patients with RA (n = 1347) and healthy controls (n = 1012) from Argentina, Mexico, Chile, and Peru were included. Samples were genotyped for the Immunochip v1 using the Illumina platform. Clinical data were obtained through interviews or the clinical history. RESULTS: Percentage of Amerindian ancestry was comparable between cases and controls. Morning stiffness (p < 0.0001, OR 0.05), rheumatoid factor (RF; p < 0.0001, OR 0.22), radiographic changes (p < 0.0001, OR 0.05), and higher number of criteria were associated with lower Amerindian ancestry after Bonferroni correction. Higher Amerindian ancestry correlated only with weight loss (pBonferroni < 0.0001, OR 2.85). Increased Amerindian ancestry correlated with higher doses of azathioprine (p < 0.0001, OR 163.6) and sulfasalazine (p < 0.0001, OR 48.6), and inversely with methotrexate (p = 0.001, OR 0.35), leflunomide (p = 0.001, OR 0.16), and nonsteroidal antiinflammatory drugs (pBonferroni = 0.001, OR 0.37). Only the presence of RF and weight loss were modified after confounders adjustment. CONCLUSION: Amerindian ancestry protects against most major clinical criteria of RA, but regarding the association of RF with increased European ancestry, age, sex, and smoking are modifiers. Ancestry also correlates with the therapeutic profiles.


Subject(s)
Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/genetics , Genotype , Rheumatoid Factor/genetics , Adult , Age Factors , Aged , Alleles , Argentina , Arthritis, Rheumatoid/diagnostic imaging , Arthritis, Rheumatoid/drug therapy , Chile , Female , Humans , Indians, North American , Indians, South American , Isoxazoles/therapeutic use , Leflunomide , Male , Methotrexate/therapeutic use , Mexico , Middle Aged , Peru , Radiography , Sex Factors , Sulfasalazine/therapeutic use
6.
Rev. Asoc. Odontol. Argent ; 103(1): 9-17, mar.2015. tab, graf
Article in Spanish | LILACS | ID: lil-758492

ABSTRACT

Evaluar, en pacientes con artritis reumatoidea, los síntomas y signos clínicos de la ATM desde el punto de vista odontológico y reumatológico, interrelacionando los hallazgos realizados con reactantes de fase aguda -como eritrosedimentación- y con marcadores de la enfermedad -como el Health Assessment Questionaire (HAQ) y el Score Disease Activity. Determinar cuáles son los predictores más importantes de la enfermedad, a fin de facilitar el diagnóstico y el manejo temprano de patologías de la ATM en la artritis reumatoidea (DAS28). Materiales y métodos: se evaluaron 190 articulaciones de pacientes con artritis reumatoidea -considerando dos por paciente- y 22 controles. La evaluación de la ATM fue realizada mediante inspección clínica, cuestionarios y radiografías. La artritis reumatoidea fue testeada clínica, serológica y radiográficamente. Para evaluar las ATMs, se utilizó el score de Rohlin y Petersson y, para las manos, el de Larsen. Para la diferencia de porcentajes (p) se empleó la prueba de las diferencias proporcionales y la asociación se determinó con el coeficiente de correlación de Pearson (r). Resultados: se hallaron anormalidades radiográficas en 167 (87,89 por ciento) de las 190 ATM evaluadas. El 57,37 por ciento de los pacientes con artritis reumatoidea referían dolor en la ATM. El 58,95 por ciento presentaba menos de 20 piezas dentarias. El 70,53 por ciento tenía la apertura bucal máxima disminuida. Existió una asociación altamente significativa (A/S=0,000) entre las cefaleas de los pacientes con artritis reumatoidea y el grupo control; una asociación no significativa (N/S) entre los resultados del DAS28, el HAQ y la ERS (eritrosedimentación) con las erosiones de la ATM; y A/S=0,62 entre las erosiones de la mano y las de la ATM. Conclusión: se determinó que existe una alta prevalencia de problemas articulares en los pacientes con AR. Las erosiones en la mano se correlacionan con las de la ATM. Por todo esto, se sugiere la evaluación...


Subject(s)
Humans , Male , Adult , Female , Young Adult , Middle Aged , Temporomandibular Joint , Arthritis, Rheumatoid/complications , Biomarkers , Temporomandibular Joint Disorders/epidemiology , Temporomandibular Joint Disorders/etiology , Argentina , Disease Progression , Prospective Studies , Signs and Symptoms , Surveys and Questionnaires , Temporomandibular Joint Dysfunction Syndrome/epidemiology
7.
Rev. Asoc. Odontol. Argent ; 103(1): 9-17, mar.2015. tab, graf
Article in Spanish | BINACIS | ID: bin-133852

ABSTRACT

Evaluar, en pacientes con artritis reumatoidea, los síntomas y signos clínicos de la ATM desde el punto de vista odontológico y reumatológico, interrelacionando los hallazgos realizados con reactantes de fase aguda -como eritrosedimentación- y con marcadores de la enfermedad -como el Health Assessment Questionaire (HAQ) y el Score Disease Activity. Determinar cuáles son los predictores más importantes de la enfermedad, a fin de facilitar el diagnóstico y el manejo temprano de patologías de la ATM en la artritis reumatoidea (DAS28). Materiales y métodos: se evaluaron 190 articulaciones de pacientes con artritis reumatoidea -considerando dos por paciente- y 22 controles. La evaluación de la ATM fue realizada mediante inspección clínica, cuestionarios y radiografías. La artritis reumatoidea fue testeada clínica, serológica y radiográficamente. Para evaluar las ATMs, se utilizó el score de Rohlin y Petersson y, para las manos, el de Larsen. Para la diferencia de porcentajes (p) se empleó la prueba de las diferencias proporcionales y la asociación se determinó con el coeficiente de correlación de Pearson (r). Resultados: se hallaron anormalidades radiográficas en 167 (87,89 por ciento) de las 190 ATM evaluadas. El 57,37 por ciento de los pacientes con artritis reumatoidea referían dolor en la ATM. El 58,95 por ciento presentaba menos de 20 piezas dentarias. El 70,53 por ciento tenía la apertura bucal máxima disminuida. Existió una asociación altamente significativa (A/S=0,000) entre las cefaleas de los pacientes con artritis reumatoidea y el grupo control; una asociación no significativa (N/S) entre los resultados del DAS28, el HAQ y la ERS (eritrosedimentación) con las erosiones de la ATM; y A/S=0,62 entre las erosiones de la mano y las de la ATM. Conclusión: se determinó que existe una alta prevalencia de problemas articulares en los pacientes con AR. Las erosiones en la mano se correlacionan con las de la ATM. Por todo esto, se sugiere la evaluación...(AU)


Subject(s)
Humans , Male , Adult , Female , Young Adult , Middle Aged , Aged , Temporomandibular Joint Disorders/epidemiology , Temporomandibular Joint Disorders/etiology , Arthritis, Rheumatoid/complications , Biomarkers , Temporomandibular Joint/diagnostic imaging , Prospective Studies , Disease Progression , Surveys and Questionnaires , Argentina , Signs and Symptoms , Temporomandibular Joint Dysfunction Syndrome/epidemiology
8.
Rheumatol Int ; 35(5): 855-9, 2015 May.
Article in English | MEDLINE | ID: mdl-25510289

ABSTRACT

Our objective was to analyze the effects of cigarette smoking on disease activity, functional capacity, radiographic damage, serology and presence of extraarticular manifestations in patients with rheumatoid arthritis and undifferentiated arthritis. This is a cross-sectional study of 1,305 patients (729 with rheumatoid arthritis and 576 with undifferentiated arthritis) from CONAART, the Argentine Consortium for Early Arthritis that includes patients older than 16 years with <2 years of disease. Sociodemographic data, clinical characteristics of the disease and smoking history were collected. In patients with rheumatoid arthritis the disease activity score of 28 joints was 5.4 ± 1.3 in current smokers, 5.2 ± 1.4 in former smokers and 5.1 ± 1.4 in never smokers (p = 0.011). The simple erosion narrowing score was higher in current smokers and former smokers than in never smokers (M 14.0, R Q 6.0-21.0; M 15.0, R Q 7.0-24.0; M 10.0, R Q 5.0-17.0; p = 0.006). Current smokers had higher rheumatoid factor titer (M 160.0, R Q 80.0-341.0) than former smokers (M 146.8, R Q 6.03-255.5) and never smokers (M 15.0, R Q 9.0-80.0) (p = 0.004). The variable independently associated with tobacco exposure was simple erosion narrowing score (OR = 1.03, 95 % CI 1.00-1.05; p = 0.012). In patients with undifferentiated arthritis, an association between smoking status and parameters of activity or radiographic damage was not observed. Neither was tobacco exposure related to the presence of extraarticular manifestations or to the degree of disability in any of the two groups of patients. No relation was found between disease activity and severity, and number of packs smoked per year. Tobacco.


Subject(s)
Arthritis, Rheumatoid/epidemiology , Foot Joints/diagnostic imaging , Hand Joints/diagnostic imaging , Smoking/epidemiology , Adult , Age Factors , Aged , Argentina/epidemiology , Arthritis/diagnostic imaging , Arthritis/epidemiology , Arthritis/immunology , Arthritis, Rheumatoid/diagnostic imaging , Arthritis, Rheumatoid/immunology , Blood Sedimentation , C-Reactive Protein/immunology , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Radiography , Rheumatoid Factor/immunology , Risk Factors , Severity of Illness Index , Sex Factors , Smoking/immunology
9.
Rheumatology (Oxford) ; 53(8): 1431-8, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24633413

ABSTRACT

OBJECTIVES: The aim of this study was to assess the cumulative incidence, risk and protective factors and impact on mortality of primary cardiac disease in SLE patients (disease duration ≤2 years) from a multi-ethnic, international, longitudinal inception cohort (34 centres, 9 Latin American countries). METHODS: Risk and protective factors of primary cardiac disease (pericarditis, myocarditis, endocarditis, arrhythmias and/or valvular abnormalities) were evaluated. RESULTS: Of 1437 patients, 202 (14.1%) developed one or more manifestations: 164 pericarditis, 35 valvulopathy, 23 arrhythmias, 7 myocarditis and 1 endocarditis at follow-up; 77 of these patients also had an episode of primary cardiac disease at or before recruitment. In the multivariable parsimonious model, African/Latin American ethnicity [odds ratio (OR) 1.80, 95% CI 1.13, 2.86], primary cardiac disease at or before recruitment (OR 6.56, 95% CI 4.56, 9.43) and first SLICC/ACR Damage Index for SLE assessment (OR 1.31, 95% CI 1.14, 1.50) were risk factors for the subsequent occurrence of primary cardiac disease. CNS involvement (OR 0.44, 95% CI 0.25, 0.75) and antimalarial treatment (OR 0.62, 95% CI 0.44, 0.89) at or before recruitment were negatively associated with the occurrence of primary cardiac disease risk. Primary cardiac disease was not independently associated with mortality. CONCLUSION: Primary cardiac disease occurred in 14.1% of SLE patients of the Grupo Latino Americano de Estudio de Lupus cohort and pericarditis was its most frequent manifestation. African origin and lupus damage were found to be risk factors, while CNS involvement at or before recruitment and antimalarial treatment were protective. Primary cardiac disease had no impact on mortality.


Subject(s)
Heart Diseases/epidemiology , Lupus Erythematosus, Systemic/epidemiology , Age of Onset , Aged , Cause of Death , Comorbidity , Female , Heart Diseases/mortality , Humans , Incidence , Latin America/epidemiology , Lupus Erythematosus, Systemic/mortality , Male , Middle Aged , Risk Factors , Severity of Illness Index
10.
Cranio ; 32(1): 31-7, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24660644

ABSTRACT

AIMS: Temporomandibular joint (TMJ) and stomatognathic system involvement are usually observed during the course of rheumatoid arthritis. METHODOLOGY: This article presents the findings during examination of 190 TMJs from rheumatoid arthritis (RA) patients, and 44 TMJs from controls without RA, including a description of signs and symptoms related to the stomatognathic system, radiological findings in hands-, and TMJ, erythrocyte sedimentation rate (ESR) values, and scores obtained in the Disease Activity Score (Das 28) and the Health Assessment Questionnaire (HAQ). RESULTS: The sample included 57.89% TMJs associated with spontaneous pain, 87.89% with signs of destruction in radiological images, and 58.94% with 20 teeth or less. Restricted mouth opening was detected in 42.1% of RA patients, from which 71% had blocked opening; headache was present in 58%, and pain in the masticatory muscles was found in 57%. TMJ erosions had a significant association with Larsen scores (r=0.62), but not with the Das 28, HAQ, and ESR values. CONCLUSIONS: The early evaluation of this joint and the collaborative work of odontologists and rheumatologists are both necessary for a better management of TMJ pathologies.


Subject(s)
Arthritis, Rheumatoid/complications , Facial Pain/etiology , Temporomandibular Joint Disorders/etiology , Adult , Aged , Arthritis, Rheumatoid/physiopathology , Case-Control Studies , Female , Hand Bones/diagnostic imaging , Hand Bones/pathology , Headache/etiology , Humans , Male , Masticatory Muscles/physiopathology , Middle Aged , Radiography , Range of Motion, Articular , Retrospective Studies , Statistics, Nonparametric , Surveys and Questionnaires , Temporomandibular Joint/diagnostic imaging , Temporomandibular Joint/pathology , Temporomandibular Joint Disorders/diagnostic imaging , Temporomandibular Joint Disorders/physiopathology , Young Adult
11.
Arthritis Rheum ; 65(6): 1457-67, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23460240

ABSTRACT

OBJECTIVE: To identify susceptibility loci for rheumatoid arthritis (RA) in Latin American individuals with admixed European and Amerindian genetic ancestry. METHODS: Genotyping was performed in 1,475 patients with RA and 1,213 control subjects, using a customized BeadArray containing 196,524 markers covering loci previously associated with various autoimmune diseases. Principal components analysis (EigenSoft package) and Structure software were used to identify outliers and define the population substructure. REAP software was used to define cryptic relatedness and duplicates, and genetic association analyses were conducted using Plink statistical software. RESULTS: A strong genetic association between RA and the major histocompatibility complex region was observed, localized within BTNL2/DRA-DQB1- DQA2 (P = 7.6 × 10(-10) ), with 3 independent effects. We identified an association in the PLCH2-HES5-TNFRSF14-MMEL1 region of chromosome 1 (P = 9.77 × 10(-6) ), which was previously reported in Europeans, Asians, and Native Canadians. We identified one novel putative association in ENOX1 on chromosome 13 (P = 3.24 × 10(-7) ). Previously reported associations were observed in the current study, including PTPN22, SPRED2, STAT4, IRF5, CCL21, and IL2RA, although the significance was relatively moderate. Adjustment for Amerindian ancestry improved the association of a novel locus in chromosome 12 at C12orf30 (NAA25) (P = 3.9 × 10(-6) ). Associations with the HLA region, SPRED2, and PTPN22 improved in individuals positive for anti-cyclic citrullinated peptide antibodies. CONCLUSION: Our data define, for the first time, the contribution of Amerindian ancestry to the genetic architecture of RA in an admixed Latin American population by confirming the role of the HLA region and supporting the association with a locus in chromosome 1. In addition, we provide data for novel putative loci in chromosomes 12 and 13.


Subject(s)
Arthritis, Rheumatoid/genetics , Chromosomes, Human, Pair 12/genetics , Chromosomes, Human, Pair 13/genetics , Chromosomes, Human, Pair 1/genetics , HLA Antigens/genetics , Female , Genotype , Humans , Indians, South American , Latin America , Male , Oligonucleotide Array Sequence Analysis
12.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 31(3): 159-172, mar. 2013. ilus
Article in Spanish | IBECS | ID: ibc-110865

ABSTRACT

La infección por Streptococcus agalactiae, estreptococo grupo B (EGB), continúa siendo la causa más frecuente de sepsis neonatal de etiología bacteriana. En 2003, las Sociedades Españolas de Ginecología y Obstetricia, Neonatología, Enfermedades Infecciosas y Microbiología Clínica, Quimioterapia y Medicina Familiar y Comunitaria publicaron recomendaciones actualizadas para la prevención de la infección neonatal precoz por EGB. En ellas se recomendaba la identificación de gestantes portadoras de EGB mediante cultivo de muestra de exudado vaginorrectal realizado en las 35-37 semanas de gestación y la administración de profilaxis antibiótica intraparto (PAI) a todas las gestantes colonizadas. En estas nuevas recomendaciones se actualizan los métodos microbiológicos para realizar la identificación de portadoras de EGB y la técnica de sensibilidad a antibióticos; se revisan los antibióticos de primera línea que pueden usarse para PAI (penicilina, ampicilina, cefazolina) y sus alternativas (clindamicina y vancomicina); se clarifica el significado de la presencia de EGB en orina, incluyendo criterios para el diagnóstico de infección urinaria y bacteriuria asintomática por EGB en la embarazada; se define el uso de PAI en la amenaza de parto prematuro y rotura prematura de membranas, y se revisa el manejo del recién nacido en relación con el estado de portadora de EGB de la madre. Estas recomendaciones solo son válidas para la prevención de la infección neonatal precoz por EGB, y no son efectivas frente a la infección neonatal tardía. Tras la aplicación generalizada de la PAI, la incidencia de la sepsis neonatal precoz por EGB ha disminuido (..) (AU)


Group B streptococci (GBS) remain the most common cause of early onset neonatal sepsis. In 2003 the Spanish Societies of Obstetrics and Gynaecology, Neonatology, Infectious Diseases and Clinical Microbiology, Chemotherapy, and Family and Community Medicine published updated recommendations for the prevention of early onset neonatal GBS infection. It was recommended to study all pregnant women at 35-37 weeks gestation to determine whether they were colonised by GBS, and to administer intrapartum antibiotic prophylaxis (IAP) to all colonised women. There has been a significant reduction in neonatal GBS infection in Spain following the widespread application of IAP. Today most cases of early onset GBS neonatal infection are due to false negative results in detecting GBS, to the lack of communication between laboratories and obstetric units, and to failures in implementing the prevention protocol. In 2010, new recommendations were published by the CDC, and this fact, together with the new knowledge and experience available, has led to the publishing of these new recommendations. The main changes in these revised recommendations include: microbiological methods to identify pregnant GBS carriers and for testing GBS antibiotic sensitivity, and the antibiotics used for IAP are updated; The significance of the presence of GBS in urine, including (..) (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Streptococcal Infections/prevention & control , Infectious Disease Transmission, Vertical/prevention & control , Streptococcus agalactiae/pathogenicity , Practice Patterns, Physicians' , Antibiotic Prophylaxis , Carrier State/diagnosis , Early Diagnosis
13.
Enferm Infecc Microbiol Clin ; 31(3): 159-72, 2013 Mar.
Article in Spanish | MEDLINE | ID: mdl-22658283

ABSTRACT

Group B streptococci (GBS) remain the most common cause of early onset neonatal sepsis. In 2003 the Spanish Societies of Obstetrics and Gynaecology, Neonatology, Infectious Diseases and Clinical Microbiology, Chemotherapy, and Family and Community Medicine published updated recommendations for the prevention of early onset neonatal GBS infection. It was recommended to study all pregnant women at 35-37 weeks gestation to determine whether they were colonised by GBS, and to administer intrapartum antibiotic prophylaxis (IAP) to all colonised women. There has been a significant reduction in neonatal GBS infection in Spain following the widespread application of IAP. Today most cases of early onset GBS neonatal infection are due to false negative results in detecting GBS, to the lack of communication between laboratories and obstetric units, and to failures in implementing the prevention protocol. In 2010, new recommendations were published by the CDC, and this fact, together with the new knowledge and experience available, has led to the publishing of these new recommendations. The main changes in these revised recommendations include: microbiological methods to identify pregnant GBS carriers and for testing GBS antibiotic sensitivity, and the antibiotics used for IAP are updated; The significance of the presence of GBS in urine, including criteria for the diagnosis of UTI and asymptomatic bacteriuria in pregnancy are clarified; IAP in preterm labour and premature rupture of membranes, and the management of the newborn in relation to GBS carrier status of the mother are also revised. These recommendations are only addressed to the prevention of GBS early neonatal infection, are not effective against late neonatal infection.


Subject(s)
Streptococcal Infections/prevention & control , Streptococcus agalactiae , Antibiotic Prophylaxis , Decision Trees , Female , Humans , Infant, Newborn , Infectious Disease Transmission, Vertical/prevention & control , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Complications, Infectious/prevention & control , Spain , Streptococcal Infections/diagnosis , Streptococcal Infections/therapy
14.
J Clin Rheumatol ; 18(7): 327-35, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23047532

ABSTRACT

BACKGROUND: Treatment of rheumatoid arthritis (RA) has evolved dramatically in the last decade. However, little is known about the way rheumatologists in Latin America treat their patients in clinical practice, outside the scope of clinical trials. OBJECTIVE: The objective of this study was to describe treatment patterns at disease onset in early RA with data from a large, multicenter, multinational inception cohort of Latin American patients. METHODS: Consecutive patients with early RA (<1 year of disease duration as diagnosed by a rheumatologist) from 46 centers in 14 Latin American countries were enrolled in the study. Clinical data, laboratory assessments, and a detailed registry on type of prescriptions were collected at baseline and at 3, 6, 12, 18, and 24 months of follow-up. Hands and feet x-rays were obtained at baseline and at 12 and 24 months. All data were captured in Arthros 6.1 database. Continuous variables were expressed as means and SDs, and categorical variables were expressed as percentages and 95% confidence intervals (95% CIs). Only therapeutic data at baseline are presented, corresponding to the period between disease onset and second visit (3 months). RESULTS: A total of 1093 patients were included. Eighty-five percent were female, and 76% had a positive rheumatoid factor. Mean age at diagnosis was 46.5 (SD, 14.2) years, and mean disease duration at the first visit was 5.8 (SD, 3.8) months. Between baseline and second visit (3 months), 75% of patients (95% CI, 72%-78%) received disease-modifying antirheumatic drugs. Methotrexate (MTX) alone or in combination was the most frequently used (60.5%), followed by antimalarials (chloroquine or hydroxychloroquine, 32.1%), sulfasalazine (7.1%), and leflunomide (LEF, 4%). In 474 patients (43%), initiation of disease-modifying antirheumatic drugs was within the first month after the first visit. In addition, 290 patients (26%; 95% CI, 23%-29%) received combination therapy as initial treatment. The most frequently used combinations were MTX + chloroquine (45%), MTX + hydroxychloroquine (25%), and MTX + sulfasalazine (16%). Eleven patients (1%; 95% CI, 0.5%-1.8%) received biologics. Sixty-four percent (95% CI, 60%-66%) received corticosteroids. Of those, 80% (95% CI, 77%-84%) received 10 mg of oral prednisone or less. CONCLUSIONS: In this cohort of Latin American patients with early RA, most patients received MTX very early in their disease course. Combination therapy was used approximately in 1 of every 4 patients as initial therapy. Biologics were rarely used at this early stage, and low-dose prednisone was commonly used.


Subject(s)
Antirheumatic Agents/therapeutic use , Arthritis, Rheumatoid/drug therapy , Arthritis, Rheumatoid/ethnology , Disease Management , Adult , Antimalarials/therapeutic use , Arthritis, Rheumatoid/epidemiology , Cohort Studies , Drug Therapy, Combination , Female , Follow-Up Studies , Humans , Isoxazoles/therapeutic use , Latin America/epidemiology , Leflunomide , Male , Methotrexate/therapeutic use , Middle Aged , Registries , Sulfasalazine/therapeutic use , Treatment Outcome
15.
Rev Esp Quimioter ; 25(1): 79-88, 2012 Mar.
Article in Spanish | MEDLINE | ID: mdl-22488547

ABSTRACT

It has been a significant reduction in neonatal group B streptococcus (GBS) infection in Spain following the widespread application of intrapartum antibiotic prophylaxis. In 2010, new recommendations have been published by the CDC and this fact, together with the new knowledge and experience available, has driven to the participating scientific societies publishing these new recommendations. In these recommendations is advised to study all pregnant women at 35-37 gestation weeks` to determine if they are colonized by GBS and to administer intrapartum antibiotic prophylaxis (IAP) to all colonized mothers. Microbiological methods to identify pregnant GBS carriers are updated and intrapartrum antibiotic prophylaxis in preterm labour and premature rupture of membranes and the management of the newborn in relation to GBS carrier status of the mother are also revised.


Subject(s)
Pregnancy Complications, Infectious/prevention & control , Streptococcal Infections/prevention & control , Streptococcus agalactiae , Adult , Carrier State/microbiology , Carrier State/prevention & control , Female , Humans , Infant, Newborn , Infant, Premature , Obstetric Labor, Premature , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Complications, Infectious/microbiology , Streptococcal Infections/diagnosis , Streptococcal Infections/microbiology
16.
Rev. esp. quimioter ; 25(1): 79-88, mar. 2012. ilus
Article in Spanish | IBECS | ID: ibc-99758

ABSTRACT

Como consecuencia aplicación de la profilaxis antibiótica intraparto ha ocurrido una importante reducción de la infección neonatal por estreptococo grupo B en nuestro país. En 2010 se han publicado nuevas recomendaciones por los CDC y este hecho, junto con los nuevos conocimientos disponibles, ha llevado a las sociedades participantes a publicar estas nuevas recomendaciones. En ellas se mantiene el criterio de administrar profilaxis intraparto a todas las embarazadas colonizadas por EGB, se actualizan las técnicas de diagnostico de portadoras y se clarifica la actuación frente al parto prematuro y a los recién nacidos a riesgo de infectarse(AU)


It has been a significant reduction in neonatal group B streptococcus (GBS) infection in Spain following the widespread application of intrapartum antibiotic prophylaxis. In 2010, new recommendations have been published by the CDC and this fact, together with the new knowledge and experience available, has driven to the participating scientific societies publishing these new recommendations. In these recommendations is advised to study all pregnant women at 35-37 gestation weeks` to determine if they are colonized by GBS and to administer intrapartum antibiotic prophylaxis (IAP) to all colonized mothers. Microbiological methods to identify pregnant GBS carriers are updated and intrapartrum antibiotic prophylaxis in preterm labour and premature rupture of membranes and the management of the newborn in relation to GBS carrier status of the mother are also revised(AU)


Subject(s)
Humans , Male , Female , Perinatal Care/methods , Perinatal Care/organization & administration , Societies, Medical/organization & administration , Societies, Medical/standards , Chorioamnionitis/epidemiology , Antibiotic Prophylaxis/methods , Antibiotic Prophylaxis , Antibiotic Prophylaxis/trends , Mass Screening/methods
17.
Phys Chem Chem Phys ; 14(9): 3234-47, 2012 Mar 07.
Article in English | MEDLINE | ID: mdl-22294155

ABSTRACT

The dissociation of H(2) on Ti-covered Al surfaces is relevant to the rehydrogenation and dehydrogenation of the NaAlH(4) hydrogen storage material. The energetically most stable structure for a 1/2 monolayer of Ti deposited on the Al(100) surface has the Ti atoms in the second layer with a c(2 × 2) structure, as has been confirmed by both low-energy electron diffraction and low-energy ion scattering experiments and density functional theory studies. In this work, we investigate the dynamics of H(2) dissociation on a slab model of this Ti/Al(100) surface. Two six-dimensional potential energy surfaces (PESs) have been built for this H(2) + Ti/Al(100) system, based on the density functional theory PW91 and RPBE exchange-correlation functionals. In the PW91 (RPBE) PES, the lowest H(2) dissociation barrier is found to be 0.65 (0.84) eV, with the minimum energy path occurring for H(2) dissociating above the bridge to top sites. Using both PESs, H(2) dissociation probabilities are calculated using the classical trajectory (CT), the quasi-classical trajectory (QCT), and the time-dependent wave-packet methods. We find that the QCT H(2) dissociation probabilities are in good agreement with the quantum dynamics results in the collision energy range studied up to 1.0 eV. We have also performed molecular beam simulations and present predictions for molecular beam experiments. Our molecular beam simulations show that H(2) dissociation on the 1/2 ML Ti/Al(100) surface is an activated process, and the reaction probability is found to be 6.9% for the PW91 functional and 1.8% for the RPBE at a nozzle temperature of 1700 K. Finally, we have also calculated H(2) dissociation rate constants by applying transition state theory and the QCT method, which could be relevant to modeling Ti-catalyzed rehydrogenation and dehydrogenation of NaAlH(4).

18.
Rev. Soc. Odontol. La Plata ; 24(43): 19-24, oct. 2011. ilus, tab
Article in Spanish | LILACS | ID: lil-679778

ABSTRACT

Durante el curso de la artritis reumatoidea (AR), la enfermedad compromete a la articulación temporomandibular (ATM). Este artículo presenta los hallazgos encontrados durante el análisis de 190 ATMs en pacientes con AR y 44 controles sin AR, incluyendo una descripción de signos y síntomas, hallazgos radiográficos en la mano y en la ATM. La muestra incluía 57,89 por ciento de los pacientes asociados a dolor espontáneo en la ATM, 87,89 por ciento con signos de destrucción radiográfica, 58,94 por ciento con menos de 20 piezas dentarias. Apertura bucal disminuida en 42,1 por ciento y de este grupo el 71 por ciento bloqueada. Existió una asociación altamente significativa A/S (r=0,62) entre las erosiones de la mano y las de la ATM. La temprana evaluación de esta articulación y el trabajo en conlaboración entre el odontólogo y reumatólogo es necesario para un mejor manejo de la enfermedad.


Subject(s)
Humans , Male , Adult , Female , Middle Aged , Temporomandibular Joint/pathology , Temporomandibular Joint , Arthritis, Rheumatoid/etiology , Age and Sex Distribution , Argentina , Hand , Radiography, Dental , Data Interpretation, Statistical , Signs and Symptoms
19.
Phys Chem Chem Phys ; 13(38): 16955-72, 2011 Oct 14.
Article in English | MEDLINE | ID: mdl-21887432

ABSTRACT

The widespread adoption of hydrogen as an energy carrier could bring significant benefits, but only if a number of currently intractable problems can be overcome. Not the least of these is the problem of storage, particularly when aimed at use onboard light-vehicles. The aim of this overview is to look in depth at a number of areas linked by the recently concluded HYDROGEN research network, representing an intentionally multi-faceted selection with the goal of advancing the field on a number of fronts simultaneously. For the general reader we provide a concise outline of the main approaches to storing hydrogen before moving on to detailed reviews of recent research in the solid chemical storage of hydrogen, and so provide an entry point for the interested reader on these diverse topics. The subjects covered include: the mechanisms of Ti catalysis in alanates; the kinetics of the borohydrides and the resulting limitations; novel transition metal catalysts for use with complex hydrides; less common borohydrides; protic-hydridic stores; metal ammines and novel approaches to nano-confined metal hydrides.

20.
Phys Chem Chem Phys ; 13(42): 19067-76, 2011 Nov 14.
Article in English | MEDLINE | ID: mdl-21674116

ABSTRACT

We report a quantum dynamics study of O + OH (v = 1, j = 0) collisions on its ground electronic state, employing two different potential energy surfaces: the DIMKP surface by Kendrick and Pack, and the XXZLG surface by Xu et al. A time-independent quantum mechanical method based on hyperspherical coordinates has been adopted for the dynamics calculations. Energy-dependent probabilities and rate coefficients are computed for the elastic, inelastic, and reactive channels over the collision energy range E(coll) = 10(-10)-0.35 eV, for J = 0 total angular momentum. Initial state-selected reaction rate coefficients are also calculated from the J = 0 reaction probabilities by applying a J-shifting approximation, for temperatures in the range T = 10(-6)-700 K. Our results show that the dynamics of the collisional process and its outcome are strongly influenced by long-range forces, and chemical reactivity is found to be sensitive to the choice of the potential energy surface. For O + OH (v = 1, j = 0) collisions at low temperatures, vibrational relaxation of OH competes with reactive scattering. Since long-range interactions can facilitate vibrational relaxation processes, we find that the DIMKP potential (which explicitly includes van der Waals dispersion terms) favours vibrational relaxation over chemical reaction at low temperatures. On the DIMKP potential in the ultracold regime, the reaction rate coefficient for O + OH (v = 1, j = 0) is found to be a factor of thirteen lower than that for O + OH (v = 0, j = 0). This significantly high reactivity of OH (v = 0, j = 0), compared to that of OH (v = 1, j = 0), is attributed to enhancement caused by the presence of a HO(2) quasibound state (scattering resonance) with energy near the O + OH (v = 0, j = 0) dissociation threshold. In contrast, the XXZLG potential does not contain explicit van der Waals terms, being just an extrapolation by a nearly constant function at large O-OH distances. Therefore, long-range potential couplings are absent in calculations using the XXZLG surface, which does not induce vibrational relaxation as efficiently as the DIMKP potential. The XXZLG potential leads to a slightly higher reactivity (a factor of 1.4 higher) for O + OH (v = 1, j = 0) compared to that for O + OH (v = 0, j = 0) at ultracold temperatures. Overall, both potential surfaces yield comparable values of reaction rate coefficients at low temperatures for the O + OH (v = 1, j = 0) reaction.

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