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PURPOSE: To report the case of a patient with X-linked juvenile retinoschisis (XLRS), caused by an in-frame deletion of the RS1 gene, who presented visual loss due to bilateral central serous chorioretinopathy (CSC).Methods: Observational case report. RESULTS: A 34-year-old man, with type-A personality, presented with a one-month history of decreased visual acuity and metamorphopsia in his right eye. Funduscopic examination showed a dome-like foveal elevation in both eyes (OU), as well as subtle pigmentary changes of the retinal pigment epithelium with a tapetal reflex in the fovea. Spectral-domain optical coherence tomography revealed intraretinal cystic foveal changes and serous retinal detachment in OU. Fundus fluorescein angiography of OU showed a focal area of intense hyperfluorescence with leakage in late phases. Electroretinogram revealed a markedly attenuated b-wave and a diminished a-wave in photopic and scotopic phases. Genetic testing revealed a hemizygous c.282_284delCTT deletion in the RS1 gene, predicting a p.Ser95del change at the protein level. The patient was diagnosed with XLRS and central serous chorioretinopathy as a coexisting condition. Patient was observed during a 3-month period but showed no improvement. Therefore, subthreshold micropulse laser was applied, achieving complete resolution of signs and symptoms of CSC. CONCLUSION: CSC can be a cause of acute or subacute visual loss in patients with XLRS when other complications such as vitreous hemorrhage and retinal detachment have been excluded.

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Ocular surface disease (OSD), a disorder affecting the lacrimal and meibomian glands and the corneal and conjunctival epithelium, is a well-known complication of topical glaucoma therapy. OSD can present as a new or pre-existing condition that virtually any anti-glaucoma formulation can exacerbate. As such, both glaucoma and OSD frequently coexist. Typical OSD symptoms include ocular discomfort, redness, burning, and dryness, whereas signs include periorbital and eyelid skin pigmentation, conjunctival scarring, and superficial punctate keratitis. Pressure-lowering eyedrops can cause toxic, allergic, and inflammatory reactions on the ocular surface. The latter can result from either preservatives or direct toxicity from the active molecule. Although usually mild, OSD can cause significant symptoms that lead to poor quality of life, decreased compliance to therapy, glaucoma progression, and worse visual outcomes. Given the chronic nature of glaucoma, lack of curative therapy, and subsequent lifelong treatment, addressing OSD is necessary. This manuscript aims to provide an up-to-date overview of OSD's signs, symptoms, and pathogenic mechanisms from glaucoma therapy toxicity.

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Objective: To determine the effectiveness and safety of infliximab and etanercept biosimilar drugs in patients diagnosed with rheumatoid arthritis, ankylosing spondylitis, ulcerative colitis, and psoriasis in a specialized institution in Colombia, between 2015 and 2019. Methods: A retrospective study in patients treated with infliximab and etanercept biosimilar drugs treated in an institution specializing in the management of rheumatological diseases, to verify the clinimetric indicators of effectiveness and reports of adverse drug reactions. Clinical, sociodemographic, and pharmacological variables were identified over 5 years of follow-up. Results: 207 patients were identified with a mean age of 48.7 ± 15.1 years, 61.4% were women. Of the patients, 58.0% (n = 120) used infliximab and 42.0% (n = 87) etanercept. It was found that 46 (22.2%) patients had adverse drug reactions. At the end of the observation period, 61.6% (n = 72) of the patients with RA had achieved control of the disease (mild activity or remission), and 57.9% (n = 117) had problems with access to and persistence with therapy. Conclusion: In a group of patients treated in Colombia, the biosimilars of infliximab and etanercept showed proportions of effectiveness and safety comparable to the reference drugs, but lack of adherence to treatment was quite common.

Objetivo: Determinar la efectividad y la seguridad de medicamentos biosimilares de infliximab y etanercept en pacientes con diagnóstico de artritis reumatoide, espondilitis anquilosante, colitis ulcerativa y psoriasis en una institución especializada de Colombia, entre los arios 2015 y 2019. Métodos: Estudio retrospectivo, en pacientes tratados con infliximab y etanercept biosimilares, atendidos en una institución especializada en el manejo de enfermedades reumatológicas, para verificar los indicadores clinimétricos de efectividad y reportes de reacciones adversas medicamentosas. Se identificaron variables clínicas, sociodemográficas y farmacológicas durante cinco años de seguimiento. Resultados: Se identificaron 207 pacientes, con una edad media de 48,7 ± 15,1 años, el 61,4% de los cuales eran mujeres. El 58% (n = 120) de los pacientes utilizó infliximab y el 42% (n = 87) etanercept. Se encontró que 46 (22,2%) pacientes presentaron reacciones adversas al medicamento. Al final del periodo de observación, un 61,6% (n = 72) de los pacientes con AR había alcanzado el control de la enfermedad (actividad leve o remisión) y, en general, el 57,9% (n = 117) tuvo problemas de acceso y persistencia a la terapia. Conclusión: En un grupo de pacientes tratados en Colombia, los biosimilares de infliximab y etanercept mostraron proporciones de efectividad y seguridad comparables a los medicamentos de referencia, pero fue bastante común la falta de adherencia al tratamiento.

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Antimicrobial peptides (AMPs) are important components of the host response against invading pathogens. In addition to their direct antimicrobial activity, they can also participate in the immune system modulation. However, the role of AMPs in the etiopathogenesis of periodontal disease and the risk factors that may influence their expression in the oral cavity are not fully understood. The aim of this study was to determine the impact of smoking on beta-defensin (hBD) 1 and 2 levels analyzing samples from periodontitis patients. Fifty patients with periodontitis, 25 smokers and 25 non-smokers, and 20 periodontally healthy patients were recruited. After periodontal clinical evaluation, gingival crevicular fluid (GCF) samples were collected from healthy sites of patients without periodontal disease and from healthy and diseased sites of patients with periodontitis. Peptides quantification was performed by sandwich ELISA technique. Smokers showed reduced GCF hBD 1 levels and increased hBD 2 levels compared to non-smokers in diseased sites (p <0.05). Higher levels of hBD 1 were observed in healthy sites of patients without periodontal disease than in healthy sites of patients with periodontitis (p<0.0001). Diseased sites of non-smokers presented higher levels of hBD 2 than healthy sites (p <0.05). These results reveal that protein levels of hBDs 1 and 2 can be impaired by cigarette smoking in the presence of periodontal disease.

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Abstract Antimicrobial peptides (AMPs) are important components of the host response against invading pathogens. In addition to their direct antimicrobial activity, they can also participate in the immune system modulation. However, the role of AMPs in the etiopathogenesis of periodontal disease and the risk factors that may influence their expression in the oral cavity are not fully understood. The aim of this study was to determine the impact of smoking on beta-defensin (hBD) 1 and 2 levels analyzing samples from periodontitis patients. Fifty patients with periodontitis, 25 smokers and 25 non-smokers, and 20 periodontally healthy patients were recruited. After periodontal clinical evaluation, gingival crevicular fluid (GCF) samples were collected from healthy sites of patients without periodontal disease and from healthy and diseased sites of patients with periodontitis. Peptides quantification was performed by sandwich ELISA technique. Smokers showed reduced GCF hBD 1 levels and increased hBD 2 levels compared to non-smokers in diseased sites (p <0.05). Higher levels of hBD 1 were observed in healthy sites of patients without periodontal disease than in healthy sites of patients with periodontitis (p<0.0001). Diseased sites of non-smokers presented higher levels of hBD 2 than healthy sites (p <0.05). These results reveal that protein levels of hBDs 1 and 2 can be impaired by cigarette smoking in the presence of periodontal disease.

Resumo Peptídeos antimicrobianos (PAMs) são componentes importantes da resposta do hospedeiro contra patógenos invasores. Além de sua atividade antimicrobiana direta, eles também podem participar da modulação do sistema imunológico. No entanto, o papel dos PAMs na etiopatogenia da doença periodontal e os fatores de risco que podem influenciar a sua expressão na cavidade oral não são totalmente compreendidos. O objetivo deste estudo foi determinar o impacto do tabagismo nos níveis de beta-defensina (hBD) 1 e 2 analisando amostras de pacientes com periodontite. Cinquenta pacientes com periodontite, 25 fumantes e 25 não fumantes e 20 pacientes periodontalmente saudáveis foram recrutados. Após avaliação clínica periodontal, amostras de fluido crevicular gengival (FCG) foram coletadas de sítios saudáveis de pacientes sem doença periodontal e de sítios saudáveis e doentes de pacientes com periodontite. A quantificação dos peptídeos foi realizada pela técnica de ELISA sanduíche. Fumantes apresentaram níveis reduzidos de hBD 1 no FCG e níveis aumentados de hBD 2 em comparação com não fumantes em locais doentes (p <0,05). Níveis mais elevados de hBD 1 foram observados em sítios saudáveis de pacientes sem doença periodontal do que em sítios saudáveis de pacientes com periodontite (p<0,0001). Os sítios doentes de não fumantes apresentaram níveis mais elevados de hBD 2 do que os sítios saudáveis (p<0,05). Esses resultados revelam que os níveis das hBDs 1 e 2 podem ser prejudicados pelo tabagismo na presença de doença periodontal.

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Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers for most current and near-future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin-fixed paraffin-embedded tissue. The workflow includes an automated bioinformatic pipeline that accounts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and reproducibility. The workflow was validated in 272 clinical samples from several solid tumor types, including gallbladder (GBC). More than 50 biomarkers were detected in these samples, mainly in BRCA1/2, KRAS, and PIK3CA genes. In GBC, biomarkers for PARP, EGFR, PIK3CA, mTOR, and Hedgehog signaling inhibitors were found. Thus, this small NGS panel is an accurate and sensitive method that may constitute a more cost-efficient alternative to multiple non-NGS assays and costly, large NGS panels. This kind of streamlined assay with automated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America.

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BACKGROUND AND AIMS: Gallbladder cancer (GBC) is a neglected disease with substantial geographical variability: Chile shows the highest incidence worldwide, while GBC is relatively rare in Europe. Here, we investigate the causal effects of risk factors considered in current GBC prevention programs as well as C-reactive protein (CRP) level as a marker of chronic inflammation. APPROACH AND RESULTS: We applied two-sample Mendelian randomization (MR) using publicly available data and our own data from a retrospective Chilean and a prospective European study. Causality was assessed by inverse variance weighted (IVW), MR-Egger regression, and weighted median estimates complemented with sensitivity analyses on potential heterogeneity and pleiotropy, two-step MR, and mediation analysis. We found evidence for a causal effect of gallstone disease on GBC risk in Chileans (P = 9 × 10-5 ) and Europeans (P = 9 × 10-5 ). A genetically elevated body mass index (BMI) increased GBC risk in Chileans (P = 0.03), while higher CRP concentrations increased GBC risk in Europeans (P = 4.1 × 10-6 ). European results suggest causal effects of BMI on gallstone disease (P = 0.008); public Chilean data were not, however, available to enable assessment of the mediation effects among causal GBC risk factors. CONCLUSIONS: Two risk factors considered in the current Chilean program for GBC prevention are causally linked to GBC risk: gallstones and BMI. For Europeans, BMI showed a causal effect on gallstone risk, which was itself causally linked to GBC risk.

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OBJECTIVE: The aim of this study was to determine the association between prepregnancy body mass, gestational weight gain, and inadequate breastfeeding (BF) with overweight in Chilean children ages 3 to 4 y. METHODS: This was an analytical and cross-sectional study with 560 participants. Age, residence, BF, and weight gain information were collected from child care records. The children's nutritional status (NS) was determined according to the weight-for-height z-score for sex. Bivariate relationships were evaluated by the χ2 test, and a multivariate logistic regression model was applied with the Stata version 15 software at α < 0.05. RESULTS: Prepregnancy NS values were 37% normal and 63% overweight. Excess weight gain occurred in 75% of the mothers. The children's NS was related to the duration of BF (P = 0.002), prepregnancy NS (P = 0.002), and weight gain (P = 0.004). When adjusting the logistic regression model for sex and maternal age, the overweight prepregnancy NS increased up to twice the risk for OW in children (odds ratio [OR], 2; 95% confidence interval [CI], 1.3-4.1), as well as excess weight gain (OR, 2.3; 95% CI, 1.5-5.9), and non-exclusive BF (OR, 2.4; 95% CI, 1.3-4.4). CONCLUSION: Children showing risk factors such as non-exclusive BF, prepregnancy NS with overweight, and excess gestational weight gain faced between 2 and 2.4 times more risk for overweight than children without these factors.

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BACKGROUND: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. METHODS: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. RESULTS: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. CONCLUSION: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.

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BACKGROUND: International migration is an increasing public health concern, particularly regard to maternal and neonatal health. OBJECTIVE: To compare obstetric and neonatal variables among native and immigrant childbearing women in a clinical hospital in Santiago, Chile. METHOD: A cross-sectional, analytic study with 2598 childbearing women and their newborn examined between January and July 2015. Data were collected from clinical records by students who had previously been trained. Ethical approval was obtained from the local Ethics Committee at the hospital. All participants signed an informed consent form. A descriptive and comparative analysis was performed. For comparison, a Chi-square test was used for categorical variables, and Student t-test was used for quantitative variables. RESULTS: Among the included women, 41.5% (n = 1078) were immigrants. The immigrants' mean age was 28.1 ±â€¯6.4 years, and that of natives was 26.8 ±â€¯6.9 (p < 0.001). Among natives, the obesity rate was 38.3%, as compared to 19.3% among immigrants (p < 0.001). A significantly higher rate of caesarean section was seen among natives (36.8%) than among immigrants (31.7%). Obstetric morbidity, pre-eclampsia, gestational diabetes and prematurity were significantly higher among natives. There was no difference regarding low birth weights. CONCLUSION: In general, immigrants present better maternal and neonatal indicators than native women. Controversially, this is known as the 'healthy immigrant' phenomenon in the literature.

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Introducción: el trauma maxilofacial es un motivo de consulta frecuente, y puede llevar a daño funcional, estético y emocional. Existen estudios previos sobre su epidemiología, sin embargo, sabemos que esta cambia a través del tiempo porque está determinada por diversos factores. El objetivo de este estudio es describir las características del trauma maxilofacial en un hospital de referencia de Bogotá. Diseño: estudio observacional descriptivo. Metodología: Se revisaron historias clínicas de pacientes mayores de 18 años que ingresaron por urgencias a la Unidad de Cirugía Maxilofacial del Hospital San José entre el 2013 y 2017. Se calculó frecuencias absolutas y relativas para las variables cualitativas. Resultados: se obtuvieron 391 pacientes. La mayoría fueron hombres (76,3 %) entre los 30-49 años. Las causas más comunes son la violencia (36,8 %) y los accidentes de tránsito (25 %). Las fracturas más frecuentes fueron las de huesos propios nasales (52 %). De las fracturas mandibulares, las más prevalentes fueron las fracturas condilares y subcondilares, ángulo y cuerpo con 21,4 % cada una. El tratamiento más usado fue el manejo médico (52,9 %). Discusión: el trauma maxilofacial es una patología frecuente en hombres adultos jóvenes. Sin embargo, el tipo de fractura y etiología podría estar influenciado por factores como el sexo y la edad. La causa más común es la violencia y los accidentes de tránsito, las cuales son potencialmente prevenibles. Esto debe servir como referencia para incitar a la realización de medidas preventivas para estas situaciones.

Background: Nowdays, the maxilofacial injuries are a common cause for consultation in the emergency department. These kinds of fractures may cause functional, and emotional damage. There are many publication about the epidemiology of maxilofacial trauma. Nevertheless, this data can change through the time. The aim of this study was to describe the maxilofacial injuries in a tertiary hospital in Bogotá. Desing: observational study. Methods: We retrospectibly assessed 391 medical records from the department of maxilofacial surgery in our Hospital during the period between 2013 to 2017. We include patients over 18 years admitted in the emergency department, we exclude patients seeing in the outpatients clinic. All the cases were assessed according age, sex, etiology and type of the fractures, in addition, we analyzed the treatment modalities. Results: We recolected 391 medical records. The majority of the facial fractures were man (76.3 %) between 30 and 49 years old. The most common cause of maxilofacial fracture was violence (36.8 %). The most common fracture site was nasal bones (52 %). Within the mandibular fractures the most common was the condylar, subcondylar fracture and body (21 % each). 53 % of cases were treated with conservative methods. Conclusion: The maxilofacial injuries are a common in our service especially in young men. Moreover depending on the sex and age we could observed diferents etiologies and typess of fracture. Mostly of the cases were for violence reasons or traffic accidents, which are preventable causes. This information is importante for public health awarness and it can be use as a referral for prevental measures for this situations.

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BACKGROUND: Hospital-acquired infections caused by multiresistant gram-negative bacteria are difficult to treat and cause high rates of morbidity and mortality. The analysis of antimicrobial resistance trends of gram-negative pathogens isolated from hospital-acquired infections is important for the development of antimicrobial stewardship programs. The information obtained from antimicrobial resistant programs from two hospitals from Mexico will be helpful in the selection of empiric therapy for hospital-acquired gram-negative infections. FINDINGS: Two thousand one hundred thirty two gram-negative bacteria collected between January 2005 and December 2010 from hospital-acquired infections occurring in two teaching hospitals in Mexico were evaluated. Escherichia coli was the most frequently isolated gram-negative bacteria, with >50% of strains resistant to ciprofloxacin and levofloxacin. Klebsiella spp. showed resistance rates similar to Escherichia coli for ceftazidime (33.1% vs 33.2%), but exhibited lower rates for levofloxacin (18.2% vs 56%). Of the samples collected for the third most common gram-negative bacteria, Pseudomonas aeruginosa, >12.8% were resistant to the carbapenems, imipenem and meropenem. The highest overall resistance was found in Acinetobacter spp. Enterobacter spp. showed high susceptibility to carbapenems. CONCLUSIONS: E. coli was the most common nosocomial gram-negative bacilli isolated in this study and was found to have the second-highest resistance to fluoroquinolones (>57.9%, after Acinetobacter spp. 81.2%). This finding represents a disturbing development in a common nosocomial and community pathogen.

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La rotura hepática espontánea es una complicación rara y de alta mortalidad, asociado al síndrome Hellp y preeclampsia severa. La incidencia de rotura hepática varía de 1 en 45 000 a 1 en 225 000 de todos los embarazos. Se relata la experiencia institucional de manejo y tratamiento de la rotura hepática asociada a preeclampsia severa y síndrome Hellp, en una mujer de 29 años, con gestación de 39 semanas, que acudió a la emergencia por dinámica uterina. Luego de 3 horas presentó epigastralgia, dolor en brazo derecho y plaquetopenia, por lo que se decidió culminar el embarazo por cesárea, con recién nacido Ápgar 8 y 9; se evidenció hemoperitoneo y solución de continuidad de la cápsula de Glisson y hematoma hepático. Se realizó taponamiento hepático. Al cuarto día se reintervino para el retiro de gasas, con éxito y evolución favorable.

Spontaneous hepatic rupture is a rare complication with high mortality associated to Hellp syndrome and severe pre-eclampsia. Hepatic rupture incidence is 1 in 45 000 to 1 in 225 000 pregnancies. We present institutional experience in managing hepatic rupture associated to severe pre-eclampsia and Hellp syndrome in a 29 yearold woman with 39 weeks gestation admitted to emergency by uterine contractions. After three hours she presented epigastralgia, right arm pain and low platelets that led to emergency cesarean section with Apgar 8 and 9 newborn. Hemoperitoneum, discontinuity of Glisson’s capsule and hepatic hematoma were found. Hepatic tamponage was performed and removed the fourth day with successful evolution.

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In the early 1950s, the liquid silicone breast injection technique was developed in Japan. This breast augmentation method had local and systemic complications. Nevertheless, this technique is still used in some countries like Chile. We report a 41 years old woman, consulting due to breast pain and a nodule in her left breast. The clinical work up confirmed the presence of siliconomas, caused by silicone breast injections one year before. The physical and radiological findings (mammograms, ultrasound and breast MRI) of this woman are reported.

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Objetivo. Conocer la incidecia, tasas específicas, áreas de mayor riesgo y los agentes causales de infecciones nosocomiales en el Hospital General de Durango, México, de la Secretaría de Salud. Material y métodos. Estudio prospectivo de vigilancia de infecciones nosocomiales, a lo largo de un año, que incluyó a todos los pacientes egresados durante ese periodo. Resultados. S encontró un tasa cruda de nueve infecciones por 100 egresos, las tasas específicas más altas correspondieron a la unidad de terapia intensiva pediátrica y neonatología y las más bajas a cirugía, pediatría y ginecobstetricia. Las infecciones de vías urinarias, neumonía y de heridas quirúrgicas fueron las más frecuentes en los servicios de adultos, mientras que las bacteremias mostraron una alta incidencia en las áreas pediátricas en donde se observó un brote epidémico donde predominó el germen Serratia marscecens. La mayoría de los pacientes presentaron un solo proceso infeccioso y E. coli, Klebsiella y Enterobacter spp. fueron los microrganismos más frecuentemente aislados. Conclusiones. La tasa de infecciones nosocomiales observada en este estudio es más alta que la informada en instituciones similares en México, y las áreas más afectadas fueron las de atención a pacientes en estado crítico y las de atención a recién nacidos, predominando la infección de vías urinarias, neumonía y de heridas quirúrgicas y como agentes causales los bacilos entéricos gram negativos. Los hallazgos anteriores sugieren pautas para el diseño e instrumentación de un programa de control de infecciones nosocomiales, ajustado a las características de este tipo de instituciones.

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