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ÍtemSolo MetadatosATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure(2019) Delcour C.; Amazit L.; Patino L.C.; Magnin F.; Fagart J.; Delemer B.; Young J.; Laissue P.; Binart N.; Beau I.Purpose: Primary ovarian insufficiency (POI) is a frequent disorder that affects ~1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and elevated plasma levels of follicle-stimulating hormone (FSH), leads to infertility. Although various etiological factors have been described, including chromosomal abnormalities and gene variants, most cases remain idiopathic. The aim of the present study was to identify and validate functionally new sequence variants in ATG (autophagy-related genes) leading to POI. Methods: We have reanalyzed, in silico, the exome sequencing data from a previously reported work performed in 69 unrelated POI women. Functional experiments using a classical hallmark of autophagy, the microtubule-associated protein 1 light chain 3? (LC3), were then used to link these genes to this lysosomal degradation pathway. Results: We venture a functional link between ATG7 and ATG9A variants and POI. We demonstrated that variant ATG7 and ATG9A led to a decrease in autophagosome biosynthesis and consequently to an impairment of autophagy, a key biological process implicated in the preservation of the primordial follicles forming the ovarian reserve. Conclusion: Our results unveil that impaired autophagy is a novel pathophysiological mechanism involved in human POI. © 2018, American College of Medical Genetics and Genomics.- ÍtemSolo MetadatosPlasma exchange therapy for a severe relapse of Devic's disease in a pregnant woman: A case report and concise review(2016) Tabares, Jonathan Rubio; Gonzalez, Pablo Felipe AmayaNeuromyelitis optica (NMO) or Devic's disease is an autoimmune inflammatory demyelinating condition affecting the central nervous system (CNS). It was initially believed to be a variant of multiple sclerosis (MS). However, the discovery of NMO-IgG anti-AQP4 antibodies marked an objective distinction between these conditions. Treatment of acute attacks is generally based on pulsed steroids, followed by long-term immunosuppression with azathioprine, oral steroids, and rituximab as first-line therapies. Plasma exchange therapy is indicated for steroid-resistant relapses. We describe a case report of a pregnant woman with a severe relapse of Devic's disease, initially misdiagnosed as MS, unresponsive to pulsed steroids, and who underwent plasma exchange therapy safely, with excellent clinical response and with no adverse outcome for the fetus. © 2016 Elsevier B.V.
- ÍtemSolo MetadatosLong-term Visual Outcomes of Intravitreal Bevacizumab in Inflammatory Ocular Neovascularization(2009-08) Mansour, Ahmad M.; Arevalo, J. Fernando; Ziemssen, Focke; Mehio-Sibai, Abla; Mackensen, Friederike; Adan, Alfredo; Chan, Wai-Man; Ness, Thomas; Banker, Alay S.; Dodwell, David; Tran, Thi Ha Chau; Fardeau, Christine; LeHoang, Phuc; Mahendradas, Padmamalini; Berrocal, Maria; Tabbarah, Zuheir; Hrisomalos, Nicholas; Hrisomalos, Frank; Al-Salem, Khalil; Guthoff, RainerPurpose To assess the long-term role of bevacizumab (Avastin; Genentech Inc, South San Francisco, California, USA) in inflammatory ocular neovascularization. Design Retrospective multicenter consecutive case series of inflammatory ocular neovascularization. Methods settings: Multicenter institutional and private practices. study population: Patients with inflammatory ocular neovascularization in one or both eyes of varying etiologies who failed standard therapy. intervention: Intravitreal injection of bevacizumab. main outcome measures: Improvement of best-corrected visual acuity (BCVA) expressed as logarithm of minimal angle of resolution (logMAR), and decrease in central foveal thickness as measured by optical coherence tomography at 6, 12, 18, and 24 months of follow-up. Results Mean logMAR BCVA (central foveal thickness) following intravitreal bevacizumab was as follows: baseline, 0.65 (6/27 or 20/90) (338 ?m; 99 eyes of 96 patients); 6 months, 0.42 (6/16 or 20/53) (239 ?m; 2.0 injections; 81 eyes); 12 months, 0.39 (6/15 or 20/49) (241 ?m; 2.3 injections; 95 eyes); 18 months, 0.40 (6/15 or 20/50) (261 ?m; 3.0 injections; 46 eyes); and 24 months, 0.34 (6/13 or 20/44) (265 ?m; 3.6 injections; 27 eyes). Paired comparisons revealed significant visual improvement at 6 months of 2.4 lines (P = .000), at 12 months of 2.5 lines (P = .000), at 18 months of 2.5 lines (P = .001), and at 24 months of 2.2 lines (P = .013). Paired comparisons revealed significant central foveal flattening at 6 months of 78 ?m (P = .000), at 12 months of 85 ?m (P = .000), at 18 months of 90 ?m (P = .003), and at 24 months of 77 ?m (P = .022). Three eyes developed submacular fibrosis and 1 eye submacular hemorrhage. Conclusion Intravitreal bevacizumab led in the long-term to significant mean visual improvement of ?2.2 lines and significant foveal flattening in a wide variety of inflammatory ocular diseases without major complications. Choroidal neovascularization (CNV) and neovascularization of the disc or elsewhere (NVD/E) in the retina can be an occasionally late sequela of inflammatory chorioretinal diseases,1 and rarely an early manifestation.2 Our group has previously reported the 3-month results of intravitreal bevacizumab (Avastin; Genentech Inc, South San Francisco, California, USA) in inflammatory ocular neovascularization in 84 eyes. Intravitreal bevacizumab led to short-term significant visual improvement and regression of inflammatory ocular neovascularization in a wide variety of inflammatory ocular diseases.3 The long-term safety profile of bevacizumab, and visual prognosis in inflammatory ocular neovascularization, may be jeopardized by submacular fibrosis,4, 5 cystoid macular edema (CME),6, 7, 8 or spread of chorioretinal atrophy. The objective of this report is to assess the long-term safety and efficacy of intravitreal bevacizumab in a retrospective collaborative case series study of inflammatory ocular neovascularization. Methods Consecutive cases of inflammatory ocular neovascularization resistant to corticosteroid with or without antimicrobial therapy and/or immunosuppression treated with intravitreal bevacizumab and followed for more than 6 months were included in the present analysis. The cases were contributed by members of the American Society of Retina Specialists and the American Uveitis Society as detailed elsewhere.3 Intravitreal bevacizumab was injected using a 30-gauge needle in a sterile manner after topical anesthesia and povidone instillation in the lower cul-de-sac. Bevacizumab aliquots were prepared in the hospital pharmacies of the corresponding institution. A standardized spreadsheet was used to collect the clinical data. Cases with prior CME, diabetes mellitus, or age-related macular degeneration were excluded. Most of the patients had initially been treated in a stepwise fashion with high-doses of oral corticosteroid, with or without intraocular or sub-Tenon corticosteroid or immunosuppressive therapy (as monitored by a rheumatologist). All patients signed an informed consent after detailed information about the limited experience, potential side effects, and the off-label usage of the drug. Best-corrected visual acuity (BCVA) was assessed using either Early Treatment Diabetic Retinopathy Study (ETDRS) or Snellen charts (half-and-half) and listed as logarithm of minimal angle of resolution (logMAR) equivalents. Retreatment was done when there was recurrent activity evaluated by funduscopy, fluorescein angiography (leakage, growth of CNV), or optical coherence tomography examination. Differences between final and initial BCVA or central foveal thickness (CFT) were tested using paired Student t test. For small sample size comparisons, nonparametric tests were used. Further associations were performed using one-way analysis of variance (ANOVA) or ?2 test for continuous and categorical variables, respectively. All analysis was conducted using SPSS 13.0 statistical package (SPSS Inc, Chicago, Illinois, USA), and a P value less than .05 was considered significant. Results Ninety-nine consecutive eyes of 96 patients, 33 male and 63 female (78 White, 9 Asian, 8 Hispanic, and 1 Black) with a mean age of 39 years, were examined at baseline and followed up between 6 months and 24 months (TABLE 1, TABLE 2). The right eye was involved in 55 subjects and the left in 44 subjects (3 patients having bilateral disease). Uveitis was active in 26 eyes at the time of ocular neovascularization. Forty-one patients (44 eyes) were taking oral, periocular, or intraocular corticosteroids or other immunosuppressive agents. Thirty-three eyes received 0.1 ml (2.5 mg) of intravitreal bevacizumab and 66 eyes received 0.05 ml (1.25 mg). The diagnosis was punctate inner choroidopathy (23), multifocal choroiditis with panuveitis (19), ocular histoplasmosis (13), idiopathic (12), serpiginous choroiditis (9), Vogt-Koyanagi-Harada disease (6), ocular toxoplasmosis (5), Eales disease (4), sarcoidosis (2), sympathetic ophthalmia (2), tuberculosis (2), acute placoid pigment epitheliopathy (1), and birdshot choroiditis (1).
- ÍtemAcceso Abierto
Chlamydia trachomatis frequency in a cohort of HPV-infected colombian women(2016) Quinónez-Calvache, Edith Margarita; Rios-Chaparro, Dora-Ines; Ramírez, Juan David; Soto-De León, Sara Cecilia; Camargo, Milena; Del Río-Ospina, Luisa; Sánchez, Ricardo; Patarroyo, Manuel Elkin; Patarroyo, Manuel A.Background Chlamydia trachomatis (C. trachomatis), an obligate intracellular bacterium, is the commonest infectious bacterial agent of sexual transmission throughout the world. It has been shown that the presence of this bacteria in the cervix represents a risk regarding HPV persistence and, thereafter, in developing cervical cancer (CC). Prevalence rates may vary from 2% to 17% in asymptomatic females, depending on the population being analysed. This study reports the identification of C. trachomatis in a cohort of 219 HPV-infected Colombian females. Methods C. trachomatis infection frequency was determined during each of the study’s follow-up visits; it was detected by amplifying the cryptic plasmid sequence by polymerase chain reaction (PCR) using two sets of primers: KL5/KL6 and KL1/KL2. Infection was defined as a positive PCR result using either set of primers at any time during the study. Cox proportional risk models were used for evaluating the association between the appearance of infection and a group of independent variables. Results Base line C. trachomatis infection frequency was 28% (n = 61). Most females infected by C. trachomatis were infected by multiple types of HPV (77.42%), greater prevalence occurring in females infected with HPV-16 (19.18%), followed by HPV-58 (17.81%). It was observed that females having had the most sexual partners (HR = 6.44: 1.59–26.05 95%CI) or infection with multiple types of HPV (HR = 2.85: 1.22–6.63 95%CI) had the greatest risk of developing C. trachomatis. Conclusions The study provides data regarding the epidemiology of C. trachomatis /HPV coinfection in different population groups of Colombian females and contributes towards understanding the natural history of C. trachomatis infection. © 2016 Quinónez-Calvache et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. - ÍtemSolo MetadatosHistidine-tryptophan-ketoglutarate solution versus blood cardioplegia in cardiac surgery: A propensity-score matched analysis(2018) Pizano, Alejandro; Montes, Felix Ramon; Carreño, Marisol; Echeverri, Dario; Umaña, Juan PabloBackground: Choosing a cardioplegic solution is a significant issue in modern cardiac surgery. Although different options are available, the optimal strategy for myocardial protection has not been established. The aim of this study was to compare intraoperative and postoperative effects of histidine–tryptophan–ketoglutarate (HTK) solution with those of standard blood cardioplegia with St Thomas No 2 solution. The study was conducted using a large cohort of adult patients undergoing complex cardiac surgery. Methods: This study was a single center retrospective review of prospectively collected data. Between January 2008 and December 2015, 4480 patients underwent cardiac surgery using cardiopulmonary bypass (CPB) and cardioplegic arrest. Patients were divided into a blood cardioplegia group (n = 3852) and an HTK solution group (n = 628). Propensity score matching was used to adjust for differences between the two groups, and 292 matched pairs were identified. The primary end point was Intensive Care Unit (ICU) length of stay (LOS). Secondary end points included intraoperative changes in serum sodium concentration, readmission to ICU, transfusion of blood products, 30-day hospital readmission, 30-day mortality, and the incidence of major postoperative complications. Results: No significant differences were found between the matched groups with regard to baseline characteristics. Aortic cross-clamp and CPB times were longer for the blood cardioplegia (147.4 versus 132.8 min; P less than .001). Administration of HTK solution was associated with acute and transient hyponatremia (141 versus 130 mmol/L; P less than .001). ICU LOS was comparable between the groups (5.4 versus 5.4 days; P = .585). No significant differences were noted in any other secondary end point. Conclusions: During complex cardiac surgery, both cardioplegia techniques were equivalent in terms of early clinical outcomes. © 2018 Forum Multimedia Publishing, LLC.
- ÍtemAcceso AbiertoPerception of violence from schoolchildren of two educational institutions in the locality of Kennedy, Bogotá(2018) Barreto Zorza, Yenny Marcela; Enriquez-Guerrero C.; Cordoba-Sastoque A.M.; Rincon-Garcia K.P.; Bustos-Sanchez J.D.; Lopez-Bernal A.S.; Mendez-Rivas D.; Rincon-Lopez J.V.Objective To describe the perception of violence in schoolchildren of two schools of the borough of Kennedy, Bogotá. Methods Participatory action research (PAR) and qualitative study. The participants in these focus groups were chosen randomly, 5 students per course, for a total of 15 focus groups and 75 students included, prior informed consent from parents and students. Ethical aspects were taken into account. Results 61 participants, 30 boys (49.1%) and 31 girls (50.8%), were included in the study, with an age range between 5 and 12 years. 10 participants (16.3%) were kindergarten students, 3 were first-grade students (4.9%), 10 second-grade students (16.3%), 18 third-grade students (29.5%), 10 fourth-grade students (16.3%), and 10 fifth-grade students (16.3%). The socioeconomic status of the children was ranked as 1 and 2. The results are presented in four categories: causes, problems, consequences and solutions, from which 8 subcategories emerged; they describe the perception that children have about violence at home and schools, highlighting physical and verbal domestic violence, the use of psychoactive substances and sexual abuse. Conclusion There is evidence in the school population of the borough of Kennedy that violence is a public health problem established in homes and in schools. The origin of this violence is mainly children's homes, therefore, it is important to build and generate proposals for intervention based on the solutions raised by the children themselves regarding the structural and family levels. © 2018, Universidad Nacional de Colombia. All rights reserved.
- ÍtemAcceso AbiertoNormative reference of standing long jump for colombian schoolchildren aged 9-17.9 years: The fuprecol study(2017) Ramírez-Velez R.; Martínez M.; Correa-Bautista J.E.; Lobelo F.; Izquierdo M.; Rodríguez-Rodríguez F.; Cristi-Montero C.The purpose of this study was to generate normative values for the standing long jump (SLJ) test in 9- to 17.9-year olds and to investigate sex and age-group differences. The sample comprised 8,034 healthy Colombian schoolchildren [boys n = 3,488 and girls n = 4,546; mean (SD) age 12.8 (±2.3) years old]. Each participant performed two SLJ. Centile smoothed curves, percentile, and tables for the third, 10th, 25th, 50th, 75th, 90th, and 97th percentiles were calculated using Cole's Lambda-Mu-Sigma method. The 2-way analysis of variance tests and Cohen's d showed that the maximum SLJ (centimeter) was higher in boys than in girls across age groups (p less than 0.01), reaching the peak at 13 years. Posthoc analyses within the sexes showed yearly increases in SLJ in all ages. In boys, the 50th percentile SLJ score ranged from 109 to 165 cm. In girls, the 50th percentile jump ranged from 96 to 120 cm. For girls, jump scores increased yearly from age 9 to 12.9 years before reaching a plateau at an age between 13 and 15.9. Our results provide, for the first time, sex- and age-specific SLJ reference values for Colombian schoolchildren aged 9-17.9 years. The normative values presented in this study provide the basis for the determination of the proposed age- and sex-specific standards for the FUPRECOL (Association for Muscular Strength with Early Manifestation of Cardiovascular Disease Risk Factors Among Colombian Children and Adolescents) Study-Physical fitness battery for children and adolescents. © 2016 National Strength and Conditioning Association.
- ÍtemAcceso AbiertoImpact of smoking and physical inactivity on self-rated health in women in Colombia(2019) Romero, Dario Mendoza; Montenegro, Amparo Cristancho; Urbina Bonilla, Adriana del Pilar; Rombaldi, AirtonThe aim of this study was to assess the association between poor and fair self-rested health, smoking, and leisure-time physical inactivity in Colombian women. A cross-sectional study using the data from the 2010 Colombian National Demographics and Health (ENDS) and Nutritional Situation (ENSIN) Surveys was conducted. Multivariate logistic analysis for self-perceived health status in 12,431 women aged 13–49 years old and 8224 women aged 18–64 years old were performed. Independent variables included smoking, leisure-time physical inactivity, anthropometric and socio-demographic information. Current smoking and leisure-time physical inactivity were associated with poor and fair self-rated health status (OR 1.78, CI 1.41, 2.25; OR 1.30, CI 1.03, 1.62; respectively). Other significantly associated variables were age (OR 1.68, CI 1.46, 1.92 for 30–49 years; OR 2.32, CI 1.96, 2.74 for 50–64 years), socio-economic strata (OR 7.24, CI 3.81, 13.76 for strata 1–3), educational level (OR 1.70 to 2.77 compared to technical or university), obesity (OR 0.81, CI 0.70, 0.93 for normal body mass index), geographical region (OR 0.67, CI 0.53, 0.85 for Bogotá, compared to Amazon and Orinoco regions), and no affiliation to health system (OR 1.22, CI 1.03, 1.44). Smoking and leisure-time physical inactivity were significantly associated with poor and fair self-rated health in Colombian women. Promoting leisure-time physical activity and implementing smoking cessation strategies specifically in female population, mainly from low to medium strata are suggested to improve their self-perceived health status and control chronic noncommunicable diseases. © 2019
- ÍtemSolo MetadatosPrevalence of delayed neurodevelopment in children from Bogotá, Colombia, South America(2007) Vélez van Meerbeke, Alberto Francisco; Talero Gutiérrez, Claudia; González Reyes, Rodrigo EstebanBackground: Undiagnosed children with neurodevelopment delay disorders (NDD) frequently experience school difficulties, leading to school desertion or academic failure with subsequent familial, social and work-related problems. Methods: In 2004-2005, we conducted a cross-sectional study to determine the prevalence of developmental delay among preschoolers in Bogotá (Colombia); convenience samples in several socioeconomic areas of the city were screened to define the prevalence of NDD. Parents and teachers were interviewed to identify children with possible NDD. Selected children were evaluated with a neurodevelopmental abbreviated scale (EAD-1). Results: We screened 2,043 preschool children aged less than 60 months; 288 suspected cases were examined individually using the EAD-1 scale. One or more abnormal items (alert category) were found in 67 (23.3%) children, for an estimated prevalence of 32.8‰ children less than 5 years of age, including deficits in gross motor function (9.3‰), personal-social interactions (9.8‰), fine motor skills (10.3‰), auditory language delay (18.6‰) and overall delay (10.8‰). Conclusions: There is limited information regarding the prevalence of neurodevelopmental delay in nonindustrialized countries. The prevalence obtained in Bogotá, Colombia, is within the expected range; however, we identified NDD among apparently healthy children from nurseries and kindergartens, who had previously been undiagnosed and untreated. Lack of evaluation of developmental milestones in children in Colombia is a substantial public health problem that will require effective intervention. Copyright © 2007 S. Karger AG.
- ÍtemSolo MetadatosCalidad de vida y percepción de apoyo social en personas con HIV en Bogotá, Colombia(2018-03-22) Moreno-Montoya, Jose; Barragán González, Ana María; Martínez Matheus, Margin del Socorro; Rodríguez, Amanda; González, Ángela CarmelaEn estudios llevados a cabo en paises desarrollados se ha establecido que las personas con HIV/sida refieren tener una menos calidad de vida y menor apoyo social.Objetivo. Explorar la asociacion entre la percepcion del apoyo social afectivo o de personas de confianza y cada dimension de la calidad de vida relacionada con la salud en personas con HIV/sida en Bogota.Materiales y metodos. Se hizo un estudio de corte transversal en personas con HIV/sida seleccionadas por conveniencia, en el marco de un programa de atencion en una red hospitalaria de Bogota. Se utilizaron los cuestionarios de calidad de vida relacionada con la salud SF36 y el cuestionario generico de apoyo social funcional Duke-UNC-11. Se utilizaron modelos de regresion lineal en el analisis.Resultados. Se evidencio una relacion directa entre la dimension del bienestar emocional de la calidad de vida, el apoyo social afectivo (SS=7,36; IC95% 1,04-13,68) y el de personas de confianza (SS=11,63; IC95% 5,30-17,96), asi como entre las dimensiones de la funcion fisica, el desempeno emocional y el dolor corporal y la percepcion del apoyo social de tipo afectivo, y entre el apoyo social de personas de confianza y las dimensiones de la vitalidad y la funcion social. Se encontro una relacion inversa entre los promedios de los puntajes de las dimensiones de desempeno emocional, desempeno fisico y salud general y la percepcion del apoyo social de tipo afectivo con la primera dimension y el de personas de confianza con las dos ultimas.Conclusiones. Los sujetos con una mejor percepcion del apoyo social reportaron una mejor calidad de vida relacionada con la salud, lo cual puede servir de base para la planeacion, el diseno y la implementacion de planes de atencion medica que incorporen variables clinicas, paraclinicas y del entorno del paciente.
