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Background: The Rhinoplasty Health Inventory and Nasal Outcomes scale (RHINO) is a comprehensive quality of life instrument that evaluates both functional and aesthetic outcomes after rhinoplasty. Aim: to evaluate patient reported outcomes after nasal surgery using the scale. Methods: We enrolled 78 patients. Inclusion criteria were patients older than 18 years with nasal obstruction or aesthetic deformity that underwent functional and aesthetic rhinoplasty by the senior author from May 2016 to May 2017 in Perth, Australia. The patients enrolled in the study were asked to complete the scale in five different moments: before the surgery, 6 weeks, 3 months, 6 months and 1 year after the surgery. Instrument analysis was performed using Stata 14 by assessment of test-retest reliability, internal consistency reliability;construct validity and comparison of the pre- and postoperative values. Results: Patient age ranged from 18 to 80 years. The average age was 33,03 years with a standard deviation of 11,75 years. The preoperative median value was 21 with an interquartile range (18-26). The 6-week RHINO results were in median 44 (40-48), the 3-months scale median result was 44 (39-47), the 6-months median result was 42(38,5-46,5) and the 1-year result median was 46 (39-48). We found in the overall results statistically significant difference between the preoperative scale result and the first postoperative scale with a Wilcoxon test (p < 0.001). Cronbach’s ? was 0,8036. Conclusions: Overall, patients are satisfied with their outcomes. The scale proved to be a good instrument to measure this.

RESUMEN Introducción La tasa de infección después de la cirugía nasal electiva es muy baja, lo que hace que la profilaxis antibiótica de rutina sea redundante. En Colombia no disponemos de información acerca de la tasa de infección de septoplastia; por esta razón, en este artículo se busca describir la tasa de infección posquirúrgica en los pacientes llevados a septoplastia o septoplastia y turbinoplastia de la Fundación Santa Fe de Bogotá, entre los años 2016-2018. Metodología: se realizó un estudio observacional, descriptivo y retrospectivo mediante la revisión de la base de datos del servicio. Se calculó la proporción de infección para todos los individuos participan tes del estudio de manera general y estratificada por el uso de antibiótico profiláctico y posoperatorio, y se describió la frecuencia de las complicaciones. Resultados: encontramos 255 pacientes en la base de datos de la sección de otorrinolaringología, de los cuales 206 cumplieron con los criterios de inclusión. El 23,3 % de los pacientes recibió un antibiótico profiláctico y el 24,76 % recibió un antibiótico postoperatorio. La tasa de infección posoperatoria fue de 2,91 % (intervalo de confianza [IC] del 95%: 1,07-6,23). El 96,6 % de los pacientes no presentaron complicaciones. Conclusiones: nuestros hallazgos se correlacionan con la literatura global.

La pandemia de enfermedad por coronavirus 2019 (COVID-19) ha producido cambios sin precedentes en la comunidad médica. Los médicos y trabajadores de la salud que realizan o participan en exámenes o procedimientos de cabeza y cuello y de la vía aérea son susceptibles en alto riesgo de adquirir la infección por COVID 19 debido a la alta exposición a aerosoles y contaminación por gotas. En la actualidad se carece de datos de riesgo específico de infección. Sin embargo, los otorrinolaringólogos y cirujanos de cabeza y cuello, junto con los oftalmólogos y los odontólogos, son los grupos de mayor riesgo dentro de los profesionales de la salud debido a las áreas que examinan. Este documento se desarrolla con base en pautas encontradas en la literatura disponible más reciente. Es seguro que serán modificadas según la experiencia de cada país.

IntroducciónLa pandemia por el nuevo Coronavirus nos ha afectado a todos y muchos hemos tenido que cerrar o disminuir sustancialmente nuestra práctica. Sin embargo, es necesario mantener comunicación con nuestros pacientes que continúan requiriendo de nuestra atención y manejo. Es aquí donde la telemedicina en otorrinolaringología juega un rol muy importante. MétodosSe realizó una revisión narrativa de la literatura mediante una búsqueda en PUB-MED y EMBASE a conveniencia con respecto a la información disponible sobre telesalud y telemedicina en el área de la Otorrinolaringología. Además se incluyó literatura de asociaciones de otorrinolaringología a nivel mundial y lineamientos y normas del gobierno colombiano Discusión La telemedicina es una útil herramienta para la atención de pacientes en esta contingencia. Debemos seguir ciertos parámetros, elegir adecuadamente a los pacientes y actuar con honestidad y buena fe. Se realizan sugerencias del beneficio de la telesalud y telemedicina, consideraciones especiales en nuestra práctica médica, alcances de los servicios mencionados e implementación de estos en nuestros consultorios e instituciones basados en la literatura disponible, normas legales y experiencia de los autores. Conclusión En la práctica del Otorrinolaringólogo es posible implementar la telemedicina con el aval de las aseguradoras y la aceptación de los pacientes. Se debe ser extremadamente cuidadoso con el diligenciamiento de la historia clínica, con la formulación de medicamentos y seleccionar adecuadamente a los pacientes. La telemedicina en otorrinolaringología es una herramienta valiosa que nos permite continuar atendiendo a pacientes seleccionados cuidándolos a ellos y a nosotros.

Background:. The Standardized Cosmesis and Health Nasal Outcomes Survey (SCHNOS) questionnaire is a new instrument that was developed to evaluate both functional and cosmetic components of rhinoplasty. It is a reliable, consistent, and validated patient-reported outcome measure that is not available in Spanish. Methods:. The SCHNOS questionnaire was forward translated, back translated, and culturally adapted following international guidelines. Its psychometric validity was tested with native Spanish speakers in 2 centers in Colombia. The authors measured internal consistency, correlation, and reproducibility to determine validity of the instrument. Results:. The final Spanish version of the SCHNOS was administered to 76 native Spanish speakers. Both the SCHNOS-O (obstructive domain) and SCHNOS-C (cosmetic domain) showed a high internal consistency with Cronbach’s alpha of 0.84 and 0.94, respectively. The Spearman correlations between the items of SCHNOS-O (0.38–0.82) and SCHNOS-C (0.49–0.88) were positive and significant. Spearman’s rank correlation in the test–retest analysis for SCHNOS-O (r = 0.87) and SCHNOS-C (r = 90) was positive and statistically significant. There was statistical significance in responses obtained for SCHNOS-O (P < 0.001) but not for SCHNOS-C (P = 0.222). Conclusions:. In this study, the SCHNOS was successfully translated and culturally adapted into Spanish. The Spanish version of the SCHNOS was shown to be a reliable and valid instrument that we recommend it should be used in Spanish-speaking patients who are having functional or cosmetic rhinoplasty.

Objective This study aimed to determine the prevalence of nonsyndromic congenital sensorineural hearing loss at the Hospital Universitario San Ignacio, Bogotá, Colombia, and to describe the risk factors associated with this condition. Materials and Methods A prospective, observational cross-sectional study with bivariate analysis was conducted. A three-phase process using the Otoacoustic Emissions test screened all live newborns between June 2013 and June 2014. Negative cases were confirmed by Automated Auditory Brainstem Response test. Results A total of 962 newborns were screened with Otoacoustic Emissions test bilaterally: 401 males (46.36%), 464 females (53.64%). The mean weight was 2 798.10 g (95%CI: 2 766.51 - 2 839.76). The mean height was 48.60 cm (95%CI: 48.38 - 48.79). The mean age was 16.24 days (95%CI: 15.47 - 17.01). The mean maternal age was 27.37 years (95%CI: 26.76 - 27.98). There was a family history of hearing loss in 9.48% of the cases (n=90), and a family history of genetic diseases in 100 cases (10.56%). There were 14 cases of TORCH infections (1.45%), 375 admissions to the NICU (39.06%), 160 cases of neonatal jaundice (20.1%), and 79 cases of postpartum infections (8.21%). One live newborn presented with microtia. Conclusions The prevalence of congenital sensorineural hearing loss was 0.31% in both ears, and 0.11% in one ear. Currently, Colombia lacks a public universal newborn hearing screening program, and its future implementation faces great challenges. RESUMEN Objetivos Este estudio busca determinar la prevalencia de la hipoacusia neurosensorial congénita no sindrómica en el Hospital Universitario San Ignacio de Bogotá, Colombia, y describir sus factores de riesgo. Materiales y Métodos Estudio observacional, transversal y prospectivo con análisis bivariado. Todos los nacidos vivos entre junio de 2013 y junio de 2014 fueron tamizados con Emisiones Otoacusticas. Los casos negativos fueron confirmados con Potenciales Evocados Auditivos de Tronco Cerebral. Resultados Un total de 962 neonatos fueron tamizados de forma bilateral con Emisiones Otoacústicas: 401 de sexo masculino (46,36%) y 464 de sexo femenino (53,64%). El peso promedio fue de 2 798,10 g (IC95%: 2 766,51 - 2 839,76). La talla promedio fue de 48.60 cm (IC95%: 48,38 - 48,79). La edad promedio fue de 16,24 días (IC95%: 15,47 -17,01). La edad materna promedio fue de 27,37 años (IC95%: 26,76 - 27,98). Se encontró historia familiar de hipoacusia en 9.48% de los casos (n=90) e historia familiar de enfermedades genéticas en 100 casos (10,56%). Hubo 14 casos de infecciones por TORCH (1,45%), 375 admisiones a la UCI Neonatal (39,06%), 160 casos de ictericia neonatal (20,1%) y 79 casos de infecciones postnatales (8,21%). Un nacido vivo presentó microtia. Conclusiones Se encontró una prevalencia de hipoacusia neurosensorial congénita del 0,31% en ambos oídos y de 0,11% en un oído. Actualmente Colombia carece de un programa nacional de tamización de hipoacusia neonatal, y su futura implementación conlleva grandes retos.

Rationale Mutations in Transient Receptor Potential Channel 6 (TRPC6) gene are associated with autosomal dominant focal and segmental glomerulosclerosis (FSGS). The majority of the identified mutations affect the ion channel function. Since calcium channels are promising candidate drug targets, there is an an urgent need for a mouse model to assess new therapeutic drugs and to help delineate the pathogenic process leading to FSGS. We have previously reported the generation of three independent transgenic mouse lines carrying different Trpc6 mutations that display a glomerular disease comparable to the phenotype presented by individuals with FSGS. However, the utility of these models for drug testing is dampened by the late-onset of the presentation and the mild phenotypic manifestations. Methodology In order to obtain a time-effective mouse model for Trpc6-associated FSGS we generated a new transgenic mutant Trpc6 mouse model emulating the amino acid change carried by the first pediatric patient of FSGS associated with a TRPC6 mutation: M132T. Results Mice carrying the orthologous Trpc6 M131T transgene showed early onset proteinuria and early signs of FSGS. When exploring molecular consequences of the overexpression of this mutated form of Trpc6 in podocytes, differences in expression levels of Axin2 and β-catenin were found in glomeruli from transgenic Trpc6 M131T mice. These data supports the proposed molecular mechanisms related to the activation of calcineurin-NFAT/Wnt signaling, as outcome of the increased calcium influx caused by the mutated form of Trpc6. Conclusion Given that the Trpc6 M131T mouse develops an early onset of FSGS-like phenotypes it represents a promising model for studying the pathogenesis of FSGS caused by TRpC6, facilitating the assessment of new drugs as treatments and allowing further studies to understand underlying molecular pathways involved in the development of the TRPC6 mediated disease.

Athletes who illicitly use drugs to enhance their athletic performance are at risk of being banned from sports competitions. Consequently, some athletes may seek new doping methods that they expect to be capable of circumventing detection. With advances in gene transfer vector design and therapeutic gene transfer, and demonstrations of safety and therapeutic benefit in humans, there is an increased probability of the pursuit of gene doping by athletes. In anticipation of the potential for gene doping, assays have been established to directly detect complementary DNA of genes that are top candidates for use in doping, as well as vector control elements. The development of molecular assays that are capable of exposing gene doping in sports can serve as a deterrent and may also identify athletes who have illicitly used gene transfer for performance enhancement. PCR-based methods to detect foreign DNA with high reliability, sensitivity, and specificity include TaqMan real-time PCR, nested PCR, and internal threshold control PCR.

International audience; Clinical trials using recombinant adeno-associated virus (rAAV) vectors have demonstrated efficacy and a good safety profile. Although the field is advancing quickly, vector analytics and harmonization of dosage units are still a limitation for commercialization. AAV reference standard materials (RSMs) can help ensure product safety by controlling the consistency of assays used to characterize rAAV stocks. The most widely utilized unit of vector dosing is based on the encapsidated vector genome. Quantitative polymerase chain reaction (qPCR) is now the most common method to titer vector genomes (vg); however, significant inter- and intralaboratory variations have been documented using this technique. Here, RSMs and rAAV stocks were titered on the basis of an inverted terminal repeats (ITRs) sequence-specific qPCR and we found an artificial increase in vg titers using a widely utilized approach. The PCR error was introduced by using single-cut linearized plasmid as the standard curve. This bias was eliminated using plasmid standards linearized just outside the ITR region on each end to facilitate the melting of the palindromic ITR sequences during PCR. This new “Free-ITR” qPCR delivers vg titers that are consistent with titers obtained with transgene-specific qPCR and could be used to normalize in-house product-specific AAV vector standards and controls to the rAAV RSMs. The free-ITR method, including well-characterized controls, will help to calibrate doses to compare preclinical and clinical data in the field.

Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in

Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. Here we investigate the molecular properties of these mutated forms and their relationship with the resulting phenotype. We compared the clinical phenotype of SMS patients carrying a mutation in RAI1 coding region either in the N-terminal or the C-terminal half of the protein and no significant differences were found. In order to study the molecular mechanism related to these two groups of RAI1 mutations first we analyzed those mutations that result in the truncated protein corresponding to the N-terminal half of RAI1 finding that they have cytoplasmic localization (in contrast to full length RAI1) and no ability to activate the transcription through an endogenous target: the BDNF enhancer. Similar results were found in lymphoblastoid cells derived from a SMS patient carrying RAI1 c.3103insC, where both mutant and wild type products of RAI1 were detected. The wild type form of RAI1 was found in the chromatin bound and nuclear matrix subcellular fractions while the mutant product was mainly cytoplasmic. In addition, missense mutations at the C-terminal half of RAI1 presented a correct nuclear localization but no activation of the endogenous target. Our results showed for the first time a correlation between RAI1 mutations and abnormal protein function plus they suggest that a reduction of total RAI1 transcription factor activity is at the heart of the SMS clinical presentation.