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OBJECTIVES: To identify distinct subphenotypes of severe early-onset pre-eclampsia in Latin America and analyze biomarker and hemodynamic trends between subphenotypes after hospital admission. METHODS: A single-center prospective cohort study was conducted in Colombia. The latent class analysis identified subphenotypes using clinical variables, biomarkers, laboratory tests, and maternal hemodynamics. Class-defining variables were restricted to measurements at and 24 h after admission. Primary and secondary outcomes were severe maternal and perinatal complications. RESULTS: Among 49 patients, two subphenotypes were identified: Subphenotype 1 (34.7%) had a higher likelihood of an sFlt-1/PlGF ratio ≤ 38, maternal age > 35, and low probability of TPR > 1400, CO <8, and IUGR; Subphenotype 2 (65.3%) had a low likelihood of an sFlt-1/PlGF ratio < 38, maternal age > 35, and high probability of TPR > 1400, CO <8, and IUGR. At 24 h postadmission, 64.7% of subphenotype 1 patients changed to subphenotype 2, while 25% of subphenotype 2 patients were reclassified as subphenotype 1. Subphenotype 1 displayed significant changes in CO and TPR, while subphenotype 2 did not. Maternal complications were more prevalent in subphenotype 2, with an odds ratio of 5.3 (95% CI: 1.3-22.0; P = 0.02), but no significant differences in severe neonatal complications were observed. CONCLUSIONS: We identified two distinct subphenotypes in a Latin American cohort of patients with severe early-onset pre-eclampsia. Subphenotype 2, characterized by higher TPR, sFlt-1, and serum creatinine and lower CO and PlGF at admission, was associated with worse maternal outcomes and appeared less modifiable after in-hospital treatment.
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Preeclampsia , Embarazo , Femenino , Recién Nacido , Humanos , América Latina , Estudios Prospectivos , Preeclampsia/epidemiología , Análisis de Clases Latentes , Biomarcadores , HospitalesRESUMEN
The cornea transplant is considered the most frequently performed type of transplant in the world, with a demand that has been increasing in recent years. An observational descriptive study was conducted, focusing on the ocular tissue extracted from cadaveric donors from January 2019 to December 2021 at the Red Cross Eye Bank in Medellin, Colombia. This is the first epidemiological characterization of corneal donor tissues within the eye banks of our city, where high rates of violence-related deaths explain that tissue donors are mostly young individuals. This, in turn, results in excellent counts of endothelial cells and tissue viability in their microscopic studies. Additionally, there are lower rates of discarded tissues compared to similar studies.
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Córnea , Trasplante de Córnea , Bancos de Ojos , Donantes de Tejidos , Colombia , Humanos , Adulto , Femenino , Persona de Mediana Edad , Masculino , Bancos de Ojos/estadística & datos numéricos , Anciano , Adulto Joven , Adolescente , Anciano de 80 o más Años , CiudadesRESUMEN
OBJECTIVE: To demonstrate the steps for hystero-embryoscopic evaluation of a 7-week spontaneous missed abortion and evacuation of the products of conception. Illustrate the surgical technique and highlight its advantages in improving the evaluation of spontaneous missed abortions. DESIGN: Video case presentation and demonstration of surgical technique. SETTING: Tertiary referral center. PATIENT(S): The patient provided consent for the video and its publication. INTERVENTION(S): Following vaginoscopy, the cervix was approached without prior blind cervical dilation. Navigation from the endocervix to the endometrial cavity was performed using a 2.9-mm diameter hysteroscope. The endometrial cavity was thoroughly inspected revealing an intact gestational sac and submucosal fibroids. An operative grasper was introduced, the chorion and amnion were penetrated, and embryoscopy was performed. In-flow was reduced for external morphological inspection of the embryo, which was then grasped and retrieved. The procedure was continued by introducing of a 26-french bipolar resectoscope, after which the products of conception were excised without electricity and sent for histologic and genetic analyses. MAIN OUTCOME MEASURE(S): This procedure allowed for proper embryonic evaluation and hysteroscopic evacuation of products of conception was successfully performed. RESULT(S): Cytogenic analysis of this case revealed a female embryo with trisomy 15. No maternal and fetal cell admixture was noted in the analysis, allowing a precise diagnosis. CONCLUSION(S): Hystero-embryoscopy is a valuable diagnostic and therapeutic procedure for cases of missed abortion. It may reveal embryonic morphological abnormalities, expand the diagnostic spectrum in the evaluation of pregnancy loss, and avoid potential complications from blind curettage.
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Aborto Retenido , Aborto Espontáneo , Embarazo , Femenino , Humanos , Aborto Retenido/diagnóstico por imagen , Aborto Retenido/cirugía , Fetoscopía , Histeroscopía/métodos , Aborto Espontáneo/diagnóstico , Aborto Espontáneo/etiología , Aborto Espontáneo/cirugía , Útero/patologíaRESUMEN
OBJECTIVE: To demonstrate basic microsurgical techniques and revisit the importance of following microsurgical principles in minimally invasive surgery. DESIGN: Video demonstration of various surgical cases portraying proper microsurgical techniques as well as the consequences of deviating from these principles. SETTING: Tertiary referral practice. PATIENT(S): Reproductive-aged women with a desire to preserve reproductive organs and fertility potential. INTERVENTION(S): We present surgical cases demonstrating the management of tubal and paratubal pathologies in which extra care must be taken to avoid inadvertent injuries of normal anatomic structures. We also portray the proper management of ovarian dermoid cysts and endometriomas to maximize the preservation of ovarian reserve and minimize complications. We have stressed the importance of ensuring safe tissue containment and extraction to avoid complications such as port site metastasis along with parasitic and iatrogenic myomas. MAIN OUTCOME MEASURE(S): Implementation of microsurgical techniques including delicate tissue handling, judicious use of energy sources, and proper tissue containment and extraction. RESULT(S): Nonadherence to microsurgical principles can result in detrimental surgical outcomes, including adhesions, parasitic myomas, port site metastasis, peritonitis, and compromised ovarian reserve. CONCLUSION(S): Microsurgical principles are of paramount importance to improve patient outcomes in reproductive surgeries. These tenets should be uniformly applied in all surgical procedures. As surgeons who perform minimally invasive surgeries, we must revisit these principles and advocate for their training and universal implementation.
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Laparoscopía , Mioma , Cirujanos , Femenino , Humanos , Adulto , Laparoscopía/métodos , Procedimientos Quirúrgicos Mínimamente Invasivos/efectos adversos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , FertilidadRESUMEN
Introduction: Pregnant women and health providers in rural areas of low-income and middle-income countries face multiple problems concerning high-quality obstetric care. This study was performed to identify changes in maternal and perinatal indicators after implementing a model based on education and telecare between a high-complexity hospital in 10 low-complexity hospitals in a southwestern region of Colombia. Methods: A quasiexperimental study with a historic control group and without a pretest was conducted between 2017 and 2019 to make comparisons before and after obstetric emergency care through the use of teleassistance from 10 primary care centers to the referral center (Fundación Valle del Lili, FVL). Results: A total of 470 patients were treated before teleassistance implementation and 154 patients were treated after teleassistance implementation. After program implementation, the maternal clinical indicators showed a 65% reduction in the number of obstetric patients who were referred with obstetric emergencies. The severity of maternal disease that was measured at the time of admission to level IV through the Modified Early Obstetric Warning System score was observed to decrease. Conclusion: The implementation of a model based on education and teleassistance between low-complexity hospitals and tertiary care centers generated changes in indicators that reflect greater access to rural areas, lower morbidity at the time of admission, and a decrease in the total number of emergency events.
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Objective: Endometriosis spreading to the vagina is rare, present in only 0.02% of women with symptomatic endometriosis. Suburethral lesion site is exceptional. In an extensive literature review only 4 cases of suburethral endometriosis were identified. Our objective is to present a case of primary vaginal suburethral endometriosis in a 31-year old patient who underwent laparoscopic evaluation and to perform a literature review on this topic. Methods and Procedures: Case report presentation based on information extracted from patient database. A review of literature with a Medline search using key words urethral endometriosis, suburethral endometriosis, or urethral diverticulum was undertaken. Results: This case report describes a case of a 31-year old female patient referred for severe pelvic pain, worsening during menstruation. On physical examination a 2 cm suburethral endometriotic lesion was found as the initial presentation. Her examination was also significant for enlarged, tender uterus and adnexa. Based on examination and imaging, adenomyosis and endometriosis were suspected. Surgical evaluation revealed extensive endometriosis with lymph node involvement at laparoscopic exploration. The review of literature revealed only 4 cases where suburethral endometriosis was previously identified. Conclusion: Primary vaginal suburethral endometriosis, although rare, could be an indication of extensive endometriosis. This case highlights the importance of careful clinical examination, surgical excision, and laparoscopic evaluation when identifying suburethral vaginal endometriotic lesions.
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Endometriosis , Laparoscopía , Enfermedades Uretrales , Adulto , Endometriosis/complicaciones , Femenino , Humanos , Laparoscopía/métodos , Enfermedades Uretrales/complicaciones , Anomalías Urogenitales , Útero/anomalías , Útero/patologíaRESUMEN
INTRODUCTION: Maternal morbidity and mortality rates associated with perinatal care remain a significant public health concern. Rural populations from low and middle-income countries have multiple barriers to access that contribute to a lack of adherence to prenatal care, and high rates of maternal mortality and morbidity. An intervention model based on telehealth and education was implemented between a tertiary high complex care hospital and a second-level hospital from a limited source region. OBJECTIVES: We sought to identify an association in maternal and perinatal care quality indicators after implementing a model based on telehealth and education for patients with obstetric emergencies between two hospitals in a southwestern region of Colombia. METHODS: We conducted an ecological study between 2017 and 2019 to compare before and after obstetric emergency care through telemedicine from a secondary care center (Hospital Francisco de Paula Santander-HFPS) to the referral center (Fundación Valle del Lili-FVL). The intervention included verification visits to determine the installed capacity of care, a concerted improvement plan, and on-site educational training modules in obstetric and perinatal care. RESULTS: There were 102 and 148 patients treated before and after telemedicine implementation respectively. Clinical indicators after model implementation showed a reduction in perinatal mortality of 29%. In addition, a reduction in the need for transfusion of blood products due to postpartum hemorrhage was observed as well as the rate of eclampsia. CONCLUSIONS: Implementing a model based on telehealth and education between secondary and tertiary care centers allowed the strengthening of the security of care in obstetric emergencies and had a positive effect on perinatal mortality.
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Muerte Perinatal , Telemedicina , Colombia/epidemiología , Urgencias Médicas , Femenino , Humanos , Mortalidad Materna , Mortalidad Perinatal , EmbarazoAsunto(s)
Oxitócicos , Hemorragia Posparto , Femenino , Humanos , Hemorragia Posparto/prevención & control , Embarazo , Factores de RiesgoRESUMEN
Maternal near-miss (MNM) is a maternal quality care indicator. The World Health Organization (WHO) defines it as a state in which a woman nearly dies but survives due to a complication during pregnancy, birth, or puerperium. The Latin American Federation of Obstetrics and Gynecology (FLASOG) and the Colombian National Health Institute (INS) established recommendations for the event's epidemiological surveillance; nonetheless, the operational definitions of the cases are different. This retrospective study examined the approaches of FLASOG and INS versus the WHO approach (gold standard) for the assessment of MNM in a high obstetric risk unit. Patients admitted with at least one criterion of the WHO, FLASOG, or INS approach for the definition of MNM from March 2016 to March 2017 were included. Sensitivity, specificity, positive and negative predictive value (PPV, NPV) were evaluated, as well as the Receiver Operating Characteristics (ROC) curve of the FLASOG and INS. MNM classification compared to WHO system as reference. The results highlight that the WHO classification establishes very high boundaries for some of the diagnostic criteria and the lack of standardization of the MNM criteria among the different proposals in Latin America hinders the applicability in Colombia and other countries with a similar situation.
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Servicios de Salud Materna , Potencial Evento Adverso , Complicaciones del Embarazo , Femenino , Humanos , Mortalidad Materna , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/epidemiología , Estudios RetrospectivosRESUMEN
OBJECTIVES: Identify and summarize the available literature on the acceleration in the use of telemedicine in the midst of the COVID-19 pandemic, with an aim to provide justification and guidance for its implementation to overcome the limitations associated with the pandemic worldwide. METHODS: We conducted a scoping review through different search strategies in MEDLINE and Google Scholar to identify the available literature reporting data on implementation and usefulness of various modalities of telemedicine during the current pandemic. We summarized the included studies according to field and mode of implementation in a narrative way. RESULTS: We included 45 studies that fulfilled selection criteria. About 38% of the studies were conducted in the United States of America (USA), followed by 15.5% in India and 15.5% in China. Most studies (73%) were cross-sectional studies based on historical records. All publications were written in English with the exception of 1 studied published in Spanish. The majority of reports focused on use of telemedicine for outpatient care, followed by in-hospital care. CONCLUSION: The COVID-19 pandemic has promoted the use of telemedicine, a tool that has transformed the provision of medical services. Several modes of implementation are useful to overcome difficulties for patient care during the pandemic. Its benefits are specific to different fields of medical practice. Such benefits, along with the guidance and reported experiences should invite health systems to work for an effective and comprehensive implementation of telemedicine in various fields.
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COVID-19/epidemiología , Telemedicina/organización & administración , Telemedicina/estadística & datos numéricos , Humanos , Pandemias , Satisfacción del Paciente , Consulta Remota/organización & administración , Consulta Remota/estadística & datos numéricos , SARS-CoV-2RESUMEN
Recent metagenomics and microbiology studies have identified microorganisms that are typical of the fetoplacental unit. Considering this emerging evidence, the placenta, uterus, and the amniotic cavity are not sterile and not immune privileged. However, there is evidence for a beneficial interaction between active maternal immune system and the presence of commensal pathogens, which lead to an immune-tolerant state, thereby preventing fetal rejection. Multiple conditions associated with the loss of the normal flora are described (dysbiosis), which could result in perinatal and puerperal adverse events, including, directly or indirectly, postpartum hemorrhage. Altered flora when associated with a severe proinflammatory state and combined with patient's genetic and environmental factors confers a high-risk adverse outcome. Better understanding of the adverse role of dysbiosis in pregnancy outcome will improve maternal outcome.
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Disbiosis/inmunología , Microbiota/inmunología , Hemorragia Posparto/inmunología , Útero/inmunología , Útero/microbiología , Animales , Femenino , Humanos , EmbarazoRESUMEN
Introducción. El quiloperitoneo consiste en la presencia de fluido linfático en la cavidad intraabdominal, complicación poco descrita en el embarazo y cuyas repercusiones no están bien establecidas.Reporte de caso. Se presenta el caso de una mujer gestante con embarazo de 36,5 semanas, sin comorbilidades, hospitalizada por presentar cifras tensionales elevadas asociadas a síntomas de encefalopatía hipertensiva y bradicardia fetal sostenida; se le practicó una cesárea urgente en la cual se evidenció corioperitoneo incidental. La tomografía computarizada abdominal de control no demostró alteraciones.Discusión. Se descartaron las principales causas del quiloperitoneo, las cuales son neoplasia maligna y trauma. Se consideró que se trataba de un quiloperitoneo espontáneo posiblemente relacionado con la congestión pélvica propia del embarazo, por vasodilatación secundaria al influjo hormonal, aumento de la presión intraabdominal y contribución del volumen ascítico por la preeclampsia, que genera ruptura traumática de los vasos linfáticos.Conclusión. La ascitis quilosa es una entidad poco frecuente que puede verse asociada con el embarazo. Es fundamental el criterio acertado del ginecoobstetra para determinar tempranamente la etiología
Introduction: Chyloperitoneum consists of the presence of a lymphatic fluid in the intra-abdominal cavity, a complication little described during pregnancy, and whose repercussions are not well established.Case report: A pregnant woman with a pregnancy of 36.5 weeks, without comorbidities, is hospitalized in the context of high blood pressure levels associated with symptoms of hypertensive encephalopathy and sustained fetal bradycardia, leading to an emergent cesarean section where incidental chorioperitoneum was evidenced. Posterior abdominal CT control showed no alterations.Discussion: The main associated etiologies (malignancy and trauma) were ruled out. It is considered a presentation of spontaneous chyloperitoneum that could be related to the pelvic congestion of pregnancy due to: vasodilatation secondary to hormonal influence, increased intra-abdominal pressure and contribution of ascites due to preeclampsia, generating traumatic rupture of lymphatic vessels.Conclusion: Chylous ascites is a rare entity that can be associated with pregnancy. It is essential that gynecologist and obstetrician correctly approach these patients to determine the etiology early
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Humanos , Ascitis Quilosa , Embarazo , Cesárea , Hipertensión Inducida en el EmbarazoRESUMEN
Individuals with autism spectrum disorder (ASD) suffer from developmental disabilities that impact communication, behavior, and social interaction. Immune dysregulation and inflammation have been linked to children with ASD, the latter manifesting in serum levels of macrophage-derived chemokine (MDC) and thymus, and activation-regulated chemokine (TARC). Mesenchymal stem cells derived from umbilical cord tissue (UC-MSCs) have immune-modulatory and anti-inflammatory properties, and have been safely used to treat a variety of conditions. This study investigated the safety and efficacy of UC-MSCs administered to children diagnosed with ASD. Efficacy was evaluated with the Autism Treatment Evaluation Checklist (ATEC) and the Childhood Autism Rating Scale (CARS), and with measurements of MDC and TARC serum levels. Twenty subjects received a dose of 36 million intravenous UC-MSCs every 12 weeks (four times over a 9-month period), and were followed up at 3 and 12 months after treatment completion. Adverse events related to treatment were mild or moderate and short in duration. The CARS and ATEC scores of eight subjects decreased over the course of treatment, placing them in a lower ASD symptom category when compared with baseline. MDC and TARC inflammatory cytokine levels also decreased for five of these eight subjects. The mean MDC, TARC, ATEC, and CARS values attained their lowest levels 3 months after the last administration. UC-MSC administration in children with ASD was therefore determined to be safe. Although some signals of efficacy were observed in a small group of children, possible links between inflammation levels and ASD symptoms should be further investigated. Stem Cells Translational Medicine 2019;8:1008-1016.
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Células Alogénicas/metabolismo , Trastorno del Espectro Autista/terapia , Citocinas/metabolismo , Células Madre Mesenquimatosas/metabolismo , Cordón Umbilical/trasplante , Adolescente , Trastorno del Espectro Autista/patología , Niño , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVE: To compare the outcomes of women with postpartum hemorrhage (PPH) refractory to initial management and in a state of hypoperfusion between management with a non-pneumatic anti-shock garment (NASG) and Bakri balloon and management with other surgical interventions. METHODS: A retrospective observational descriptive study of women with PPH and hemorrhagic shock who were treated at a high complexity obstetric unit in Columbia between 2011 and 2017. Clinical records were reviewed and women were divided in two groups by clinical management. Group 1 women were managed with surgical interventions; group 2 women were managed with NASG plus a Bakri balloon. RESULTS: Overall, 142 women were treated for PPH, with 69 in group 1 and 73 in group 2). There were differences between group 1 and group 2 in the degree of hypovolemic shock (shock index: 1.1 vs 0.9, P=0.02), indicators associated with hypoperfusion (lactic acid, 2.9 vs 1.9 mmol/L, P=0.001), and frequency of transfusion of blood components (68% vs 44%, P<0.05). CONCLUSIONS: The joint use of NASG and Bakri balloon in PPH management seemed to improve hypoperfusion-related markers such as lactic acid and shock index, and reduce the frequency of additional blood transfusion.
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Trajes Gravitatorios , Hemorragia Posparto/terapia , Choque Hemorrágico/terapia , Taponamiento Uterino con Balón , Adulto , Transfusión Sanguínea , Estudios de Casos y Controles , Colombia , Femenino , Hospitales Universitarios , Humanos , Lactasa/sangre , Embarazo , Estudios RetrospectivosRESUMEN
SUMMARY: Patients with systemic lupus erythematosus (SLE) produce antibodies to many different self-antigens. Here, we investigated antibodies in SLE sera using an antigen microarray containing many hundreds of antigens, mostly self-antigens. The aim was to detect sets of antibody reactivities characteristic of SLE patients in each of various clinical states--SLE patients with acute lupus nephritis, SLE patients in renal remission, and SLE patients who had never had renal involvement. The analysis produced two novel findings: (i) an SLE antibody profile persists independently of disease activity and despite long-term clinical remission, and (ii) this SLE antibody profile includes increases in four specific immunoglobulin G (IgG) reactivities to double-stranded DNA (dsDNA), single-stranded DNA (ssDNA), Epstein-Barr virus (EBV) and hyaluronic acid; the profile also includes decreases in specific IgM reactivities to myeloperoxidase (MPO), CD99, collagen III, insulin-like growth factor binding protein 1 (IGFBP1) and cardiolipin. The reactivities together showed high sensitivity (> 93%) and high specificity for SLE (> 88%). A healthy control subject who had the SLE antibody profile was later found to develop clinical SLE. The present study did not detect antibody reactivities that differentiated among the various subgroups of SLE subjects with statistical significance. Thus, SLE is characterized by an enduring antibody profile irrespective of clinical state. The association of SLE with decreased IgM natural autoantibodies suggests that these autoantibodies might enhance resistance to SLE.
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Autoanticuerpos/inmunología , Lupus Eritematoso Sistémico/inmunología , Análisis por Matrices de Proteínas , Antígeno 12E7 , Adulto , Anticuerpos Anticardiolipina/inmunología , Anticuerpos Antinucleares/sangre , Anticuerpos Antinucleares/inmunología , Antígenos CD/inmunología , Autoanticuerpos/sangre , Moléculas de Adhesión Celular/inmunología , Colágeno Tipo III/inmunología , Regulación hacia Abajo/inmunología , Femenino , Herpesvirus Humano 4/inmunología , Humanos , Ácido Hialurónico/inmunología , Inmunoglobulina G/sangre , Inmunoglobulina G/inmunología , Inmunoglobulina M/sangre , Inmunoglobulina M/inmunología , Proteína 1 de Unión a Factor de Crecimiento Similar a la Insulina/inmunología , Lupus Eritematoso Sistémico/diagnóstico , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/inmunología , Masculino , Persona de Mediana Edad , Peroxidasa/inmunología , Sensibilidad y Especificidad , Regulación hacia Arriba/inmunologíaRESUMEN
BACKGROUND: Alterations in the feet of patients with rheumatoid arthritis (RA) are a cause of disability in this population. The purpose of this research was to evaluate the impact that foot impairment has on the patients' global quality of life (QOL) based on validated scales and its relationship to disease activity. METHODS: This was a cross-sectional study in which 95 patients with RA were enrolled. A complete physical examination, including a full foot assessment, was done. The Spanish versions of the Health Assessment Questionnaire (HAQ) Disability Index and of the Disease Activity Score (DAS 28) were administered. A logistic regression model was used to analyze data and obtain adjusted odds ratios (AORs). RESULTS: Foot deformities were observed in 78 (82%) of the patients; hallux valgus (65%), medial longitudinal arch flattening (42%), claw toe (lesser toes) (39%), dorsiflexion restriction (tibiotalar) (34%), cock-up toe (lesser toes) (25%), and transverse arch flattening (25%) were the most frequent. In the logistic regression analysis (adjusted for age, gender and duration of disease), forefoot movement pain, subtalar movement pain, tibiotalar movement pain and plantarflexion restriction (tibiotalar) were strongly associated with disease activity and disability. The positive squeeze test was significantly associated with disability risk (AOR = 6,3; 95% CI, 1.28-30.96; P = 0,02); hallux valgus, and dorsiflexion restriction (tibiotalar) were associated with disease activity. CONCLUSION: Foot abnormalities are associated with active joint disease and disability in RA. Foot examinations provide complementary information related to the disability as an indirect measurement of quality of life and activity of disease in daily practice.
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Actividades Cotidianas , Artritis Reumatoide/epidemiología , Evaluación de la Discapacidad , Deformidades Adquiridas del Pie/epidemiología , Limitación de la Movilidad , Calidad de Vida , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/patología , Artritis Reumatoide/fisiopatología , Colombia/epidemiología , Comorbilidad , Estudios Transversales , Femenino , Pie/patología , Pie/fisiopatología , Deformidades Adquiridas del Pie/diagnóstico , Deformidades Adquiridas del Pie/fisiopatología , Articulaciones del Pie/patología , Articulaciones del Pie/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Examen Físico , Prevalencia , Encuestas y Cuestionarios , Adulto JovenRESUMEN
BACKGROUND AND AIM: The involvement of Toll-like receptor (TLR)-mediated pathways in infectious and autoimmunity has been suggested. The MyD88 adaptor-like (Mal) protein, also known as the TIR domain-containing adaptor protein (TIRAP), is implicated in the TLR2- and TLR4-mediated MyD88-dependent signaling pathway. The aim of this study was to investigate the influence of the functional TIRAP (MAL) S180L polymorphism on tuberculosis (TB) and four autoimmune diseases namely: rheumatoid arthritis (RA), primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE) and type 1 diabetes mellitus (T1D). METHODS: This was a case-control and family based association study in which 1325 individuals from a well-defined Colombian population were involved. TIRAP (MAL) S180L genotyping was done by using a polymerase chain reaction-restriction fragment length polymorphism technique and by direct sequencing. RESULTS: Leu180 allele was found to be a protective factor against developing TB (odd ratio (OR): 0.53, 95% confidence interval (CI): 0.29-0.97) and SLE (OR: 0.29, 95% CI: 0.14-0.61) while no significant influence on RA, pSS and T1D was observed. CONCLUSION: These results support the influence of TIRAP (MAL) S180L polymorphism on TB and indicate that TB and SLE might share a common immunogenetic pathway in the innate immune response.
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Lupus Eritematoso Sistémico/genética , Glicoproteínas de Membrana/genética , Polimorfismo Genético , Receptores de Interleucina-1/genética , Tuberculosis/genética , Adulto , Estudios de Casos y Controles , Colombia , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVES: Rheumatoid arthritis (RA) is associated with an increased prevalence of cardiovascular disease (CVD). Since atherosclerosis development is a gradual process of damage inside the artery wall, and the phenotype-genotype correlation of complex diseases may vary depending on ethnicity, we sought to investigate the influence of clinical features, routine inflammatory markers, and the genetic component of RA on different stages of atherosclerosis in northwestern Colombian patients with RA. METHODS: A group of 140 patients with RA were enrolled in this study. All patients underwent a noninvasive evaluation of endothelial function by flow-mediated vasodilation (FMV) and an assessment of carotid intima-media thickness (IMT) by high-resolution B-mode ultrasonography. The patients were classified into 3 categories: endothelial dysfunction (FMV <5%), increased IMT (0.91-1.29 mm), and plaque (IMT >1.30 mm). The risk of being in each category was assessed by investigating traditional and nontraditional cardiovascular risk factors. For each stage of atherosclerosis development, we searched for nontraditional risk factors that were significantly associated with the stage after adjusting for traditional risk factors and current age. RESULTS: Rheumatoid factor seropositivity was significantly associated with endothelial dysfunction (adjusted odds ratio, AOR = 3.0). A duration of RA >10 years (AOR = 29.0) and being a carrier of an HLA-DRB1 shared epitope allele (AOR = 4.8) were associated with atherosclerotic plaque. No association of extra-articular manifestations, anticyclic citrullinated peptide (anti-CCP3) antibodies, and tumor necrosis factor -308 polymorphism with CVD was found. CONCLUSIONS: Our results reveal the presence of RA-related risk factors for CVD which act independently of traditional risk factors. These factors can be used by clinicians to predict CVD in RA patients, and this data should assist in the development of public health policies in our population for the improvement of patient outcomes.
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Artritis Reumatoide/complicaciones , Enfermedades de las Arterias Carótidas/patología , Endotelio Vascular/fisiopatología , Adulto , Artritis Reumatoide/sangre , Enfermedades de las Arterias Carótidas/sangre , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Enfermedades de las Arterias Carótidas/etiología , Colombia , Endotelio Vascular/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factor Reumatoide/sangre , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Túnica Íntima/diagnóstico por imagen , Túnica Íntima/patología , Túnica Media/diagnóstico por imagen , Túnica Media/patología , UltrasonografíaRESUMEN
OBJECTIVE: Considering the significant morbidity and mortality of pulmonary arterial hypertension (PAH) in patients with systemic sclerosis (SSc) and the lack of precise information on disease in Latin America, we investigated the clinical and laboratory characteristics associated with PAH in Colombian patients with SSc and review the literature. METHODS: This multicenter study included patients followed at 5 rheumatology units that were systematically assessed using a pretested questionnaire on clinical and immunological variables, focusing on PAH. Conditional logistic regression was employed to assess association between PAH and specific clinical characteristics. A systematic review of the literature was performed through electronic databases. RESULTS: Of a total of 349 patients with SSc, 61 (17%) met the criteria for PAH. Pulmonary fibrosis [adjusted odds ratio (AOR) 7.37, 95% CI 3.67-14.81, p < 0.0001], microstomia (AOR 3.3, 95% CI 1.70-6.28, p < 0.0001), gastroesophageal reflux (AOR 2.41, 95% CI 1.31-4.43, p = 0.005), dysphagia (AOR 2.7, 95% CI 1.49-4.77, p = 0.001), hyperpigmentation (AOR 2.15, 95% CI 1.11-4.16, p = 0.02), and hypopigmentation (AOR 2.4, 95% CI 1.26-4.64, p = 0.008) were the most prevalent clinical characteristics associated with PAH, while anemia (AOR 5.4, 95% CI 1.98-14.93, p = 0.001) was observed as the unique laboratory risk factor. Association between subtypes of SSc and PAH was not observed. Significant differences in both clinical and laboratory data were observed among different series. CONCLUSION: PAH may be a frequent complication of SSc in the Colombian population regardless of disease subtype. The identified clinical and laboratory risk factors might assist earlier diagnosis and guide decisions on therapeutic interventions on this critical complication of SSc. The reasons underlying the reported divergences among patients from different ethnicities are not fully understood, but it is most likely that both genetic and environmental factors are responsible for them.