YABBY transcription factor family in the octoploid Fragaria × ananassa and five diploid Fragaria species.

YABBY genes encode specific TFs of seed plants involved in development and formation of leaves, flowers, and fruit. In the present work, genome-wide and expression analyses of the YABBY gene family were performed in six species of the Fragaria genus: Fragaria × ananassa, F. daltoniana, F. nilgerrensis, F. pentaphylla, F. viridis, and F. vesca. The chromosomal location, synteny pattern, gene structure, and phylogenetic analyses were carried out. By combining RNA-seq data and RT-qPCR analysis we explored specific expression of YABBYs in F. × ananassa and F. vesca. We also analysed the promoter regions of FaYABBYs and performed MeJA application to F. × ananassa fruit to observe effects on gene expression. We identified and characterized 25 YABBY genes in F. × ananassa and six in each of the other five species, which belong to FIL/YAB3 (YABBY1), YAB2 (YABBY2), YAB5 (YABBY5), CRC, and INO clades previously described. Division of the YABBY1 clade into YABBY1.1 and YABBY1.2 subclades is reported. We observed differential expression according to tissue, where some FaYABBYs are expressed mainly in leaves and flowers and to a minor extent during fruit development of F. × ananassa. Specifically, the FaINO genes contain jasmonate-responsive cis-acting elements in their promoters which may be functional since FaINOs are upregulated in F. × ananassa fruit under MeJA treatment. This study suggests that YABBY TFs play an important role in the development- and environment-associated responses of the Fragaria genus.

Otitis media tuberculosa pediátrica, un desafío diagnóstico. Revisión de la literatura a propósito de un caso

La tuberculosis es una de las principales causas de mortalidad infantil, alcanzando una tasa de mortalidad de hasta 40% en los casos entre 0 y 4 años. Una forma infrecuente es la otomastoiditis tuberculosa (TOM), siendo un desafío diagnóstico, con consecuencias severas como destrucción del oído medio, hipoacusia y diseminación intracraneal. Se presenta el caso de un lactante de 8 meses con mal control pediátrico, desnutrido, donde la tuberculosis ótica fue un hallazgo secundario a otorrea persistente en el contexto de tuberculosis diseminada y múltiples otras infecciones. El diagnóstico de TOM es desafío diagnóstico, dado lo inespecífico del cuadro. Clásicamente, se describe otorrea persistente pese a tratamiento, hipoacusia y parálisis facial, con microscopía con granulaciones pálidas y perforaciones timpánicas múltiples. Los métodos diagnósticos tradicionales tienen un mal rendimiento, el cultivo de Koch alcanza una sensibilidad de hasta un 35%, mientras que pruebas basadas en la detección de ADN de 95%. La instalación de terapia antituberculosa es fundamental para la prevención de complicaciones locales y diseminación, mientras que el abordaje quirúrgico se reservará para casos con complicaciones.

Tuberculosis is one of the leading causes of child mortality, with a mortality rate of up to 40% in cases between 0 and 4 years old. An uncommon form is tuberculous otomastoiditis (TOM), which poses a diagnostic challenge and has severe consequences such as destruction of the middle ear, hearing loss, and intracranial dissemination. Clinical case: We present the case of an 8-month-old infant with poor pediatric control and malnutrition, where otic tuberculosis was a secondary finding due to persistent otorrhea in the context of disseminated tuberculosis and multiple other infections. Discussion: The diagnosis of TOM is a diagnostic challenge given the nonspecific presentation. Classically, it is characterized by persistent otorrhea despite treatment, hearing loss, and facial paralysis, with microscopy showing pale granulations and multiple tympanic perforations. Traditional diagnostic methods have poor performance, with Koch's culture achieving a sensitivity of up to 35%, while DNA-based tests reach 95% sensitivity. The initiation of antituberculosis therapy is crucial for the prevention of local complications and dissemination, while surgical intervention is reserved for cases with complications.

Otoplastia en oreja prominente / Otoplasty in prominent ear

La oreja alada es la deformidad congénita más frecuente en cabeza y cuello, con una incidencia de 5% en la población caucásica. Queda definida por una distancia entre el hélix y la mastoides mayor a 21 mm o un ángulo mayor a 90° entre la concha auricular y la fosa escafoidea, siendo causada en el 70% de los casos por un antihélix mal plegado. Su corrección, a través de la otoplastia, se vuelve fundamental en prevenir los impactos psicológicos, siendo indicada antes de los 6 a 7 años, cuando la oreja ha alcanzado un ancho similar a la oreja adulta. El abordaje quirúrgico se divide en aquellas técnicas incisionales y no incisionales, cuya tasa de éxito y complicaciones como el otohematoma, necrosis de cartílago y deformidad irreversible, entre otras, son variables. La recidiva varía entre 6% a 12,5%, según el abordaje, no existiendo a la fecha una única técnica de elección. En el presente trabajo se discutirán cuatro técnicas principales: Incisionless, Furnas, mustardé y técnica de los pilares.

The prominent ear is the most common congenital deformity in head and neck, with an incidence of 5% in the Caucasian population. It is defined by a distance between the helix and the mastoid greater than 21 mm or an angle greater than 90° between the concha and the scaphoid fossa, being caused in 70% of the cases by a misfolded antihelix. Its correction, through the otoplasty, becomes essential in preventing psychological impact, being indicated before the age of 6 or 7, when the ear has reached a similar width of an adult ear. The surgical access is classified on incisionless and non-incisionless techniques, where the success rate and complications like hematoma, cartilage necrosis and irreversible deformity, among others, are variables. Recurrence varies between 6%-12.5%, depending on the approach, and to date there is no single technique of choice. In this revision, we will discuss the four principal techniques: Incisionless, Furnas, Mustardé and the abutment technique.

Intra-arterial chemotherapy for retinoblastoma treatment in Chile: Experience and results 2013-2020.

OBJECTIVE: To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications. METHODS: Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma. RESULTS: A total of 73 salvage IAC procedures with topotecan and melphalan were carried out. Success rate was 77% at a mean follow-up of 41.4 months. All patients with only one remaining eye avoided enucleation (10 cases). Catheterization was successful in 98.6% of cases. The types of catheterizations were as follows: 71.2% supraselective ophthalmic artery, 12.3% occlusion pump assisted supraselective ophthalmic artery, 16.4% selective external carotid with retrograde flow. 14% of patients suffered local adverse effects: 1 (2.8%) transitory ptosis, 1 (2.8%) transitory oculomotor nerve palsy, 2 (5.7%) aseptic cellulitis and 1 (2.8%) periorbitary pigmentation. 4.1% (3 cases) suffered neutropenia due to medullar chemosuppression. There were no cases of severe anemia or thrombocytopenia. There were no cerebral ischemic events or mortality associated to the procedure. CONCLUSION: IAC with melphalan and topotecan is a safe and effective treatment option for persistent or recurrent retinoblastoma, able to reduce enucleation rates.

Quimioterapia intraarterial para el tratamiento del retinoblastoma en Chile: experiencia y resultados, período 2013-2020 / Intra-arterial chemotherapy for retinoblastoma treatment in Chile: experience and results 2013-2020

Objetivo Establecer la tasa de éxito de la quimioterapia intraarterial (QIA) en modalidad de rescate expresada en el porcentaje de ojos que lograron remisión tumoral y evitaron la enucleación. El segundo objetivo fue analizar la caracterización clínica, resultados del cateterismo, complicaciones locales y sistémicas asociadas. Métodos Estudio retrospectivo de serie de casos intervencional de 29 pacientes (35 ojos) con retinoblastoma intraocular persistente o recidivado. Resultados Se realizaron un total de 73 procedimientos de QIA con topotecán y melfalán en modalidad de rescate. La tasa de éxito de la QIA fue del 77% en un seguimiento promedio de 41,4 meses. Todos los casos con ojo único evitaron la enucleación de su ojo residual (10 casos). El cateterismo fue exitoso en un 98,6%. Los tipos de cateterización logrados fueron los siguientes: supraselectiva por arteria oftálmica (71,2%), supraselectiva por arteria oftálmica asistida con balón de oclusión en carótida externa (12,3%), selectiva por rama de carótida externa con flujo retrógrado (16,4%). Se reportaron efectos adversos locales en el 14% de los pacientes: una (2,8%) ptosis palpebral transitoria, una (2,8%) parálisis del sexto par transitoria, 2 (5,7%) celulitis aséptica y una (2,8%) pigmentación de región periorbitaria. La frecuencia de neutropenia por quimiosupresión medular fue del 4,1% (3 casos). No hubo casos de anemia ni trombocitopenia severas. No hubo eventos isquémicos cerebrales ni mortalidad asociada al procedimiento. Conclusión La QIA con melfalán y topotecán es una alternativa segura y efectiva para el tratamiento del retinoblastoma persistente o recidivado, permitiendo reducir las tasas de enucleación (AU)

Objective To establish the success rate of salvage intra-arterial chemotherapy (IAC), defined as the percentage of eyes that achieved tumoral remission and avoided enucleation. The second objective was the clinical characterization, catheterization results, and associated local and systemic complications. Methods Retrospective, interventional case series of 29 patients (35 eyes) with persistent or recurrent retinoblastoma. Results A total of 73 salvage IAC procedures with topotecan and melphalan were carried out. Success rate was 77% at a mean follow-up of 41.4 months. All patients with only one remaining eye avoided enucleation (10 cases). Catheterization was successful in 98.6% of cases. The types of catheterizations were as follows: 71.2% supraselective ophthalmic artery, 12.3% occlusion pump assisted supraselective ophthalmic artery, 16.4% selective external carotid with retrograde flow. 14% of patients suffered local adverse effects: 1 (2.8%) transitory ptosis, 1 (2.8%) transitory oculomotor nerve palsy, 2 (5.7%) aseptic cellulitis and 1 (2.8%) periorbitary pigmentation. 4.1% (3 cases) suffered neutropenia due to medullar chemosuppression. There were no cases of severe anemia or thrombocytopenia. There were no cerebral ischemic events or mortality associated to the procedure. Conclusion IAC with melphalan and topotecan is a safe and effective treatment option for persistent or recurrent retinoblastoma, able to reduce enucleation rates (AU)

Puentes mucosos de la cuerda vocal, en la Unidad de Voz del Hospital Clínico de la Universidad de Chile: diagnóstico y manejo desafiante

Resumen Introducción: Los puentes mucosos (PM) corresponden a una banda de mucosa paralela al borde libre de la cuerda vocal, unido por anterior y posterior como un ojal. Su manejo no está estandarizado y la literatura al respecto es escueta, con cirugías con resultados no siempre predecibles. Objetivo: Descripción de las características clínicas de pacientes con PM y las técnicas quirúrgicas para su manejo, en la Unidad de Voz del Servicio de Otorrinolaringología del Hospital Clínico de la Universidad de Chile (HCUCH), discutiendo el desafío para su diagnóstico y manejo. Material y Método: Estudio retrospectivo, descriptivo, incluyendo pacientes con PM, entre los años 2013 y 2019 en HCUCH. La evaluación preoperatoria incluye anamnesis, examen físico, nasofibroscopía y/o telelaringoscopía, junto con estroboscopía. Resultados: Se incluyen 7 casos, con edad promedio de 37,4 años; todas mujeres, con diagnóstico realizado en pabellón, en una sola cuerda vocal. Se asoció a alteración estructural mínima (AEM) en el 100% de los casos y a patología benigna en 75%. Todos los pacientes consultaron por disfonía. El tratamiento fue elegido de acuerdo a cada paciente, con resección en todos los casos, con variadas técnicas de microcirugía laríngea, con infiltración de corticoides y/o grasa, además de fonoterapia. Conclusión: Los PM, deben sospecharse en disfonía crónica con respuesta no favorable a fonoterapia, en asociación a otras AEM, en particular en mujeres, con diagnóstico en el intraoperatorio con equipos adecuados, incluyendo consentimiento informado para eventual manejo quirúrgico. Es una patología poco frecuente, cuyo manejo no ha sido estandarizado, por lo que nuestra experiencia resulta relevante.

Abstract Introduction: Mucosal bridges (MB) correspond to a mucosa loop parallel to the free edge of the vocal fold, which is joined forward and backward. There is not a standardized procedure for its treatment and the literature in this regard is scarce and surgical management have not resulted in predictable outcomes. Aim: Description of clinical characteristics of patients with MB and the surgical techniques, in the Otorhinolaryngology Service at the Clinical Hospital Universidad de Chile (HCUCH), reflecting upon the challenge for its diagnosis and management. Material and Method: Retrospective and descriptive study, including patients with diagnosis of MB, between 2013 and 2019 in HCUCH. The preoperative evaluation includes anamnesis, physical examination, nasofibroscopy and/or telelaryngoscopy, along with the use of stroboscopy. Results: 7 cases were included, with an average age of 37.4 years; all women, with diagnosis made in the operating room, on a single vocal fold. It was associated with another minimal structural abnormality (MSA) in 100% of the cases, and with benign pathology in 75% of them. Dysphonia was the main symptom. The treatment was chosen individually, with resection in all cases, various laryngeal microsurgery techniques, infiltration of steroids and/or fat, in addition to speech therapy. Conclusion: MB should be suspected in cases of chronic dysphonia with an unfavorable response to speech therapy, in association with other MSAs, particularly in women, diagnosed intraoperatively with adequate equipment, including informed consent for eventual surgical management. It is a rare pathology, whose management has not been standardized therefore our experience is relevant.

Cervical Artery Dissections with and without stroke, risk factors and prognosis: a Chilean prospective cohort.

We aimed to characterize spontaneous cervical artery dissection (CeAD) patients with and without stroke and describe risk factors for cerebrovascular complications in a Chilean prospective cohort. METHODS: Consecutive CeAD patients admitted to a Chilean center confirmed by neuroimaging. Logistic regression was used. RESULTS: 168 patients were included, median follow-up time was 157 days. Stroke occurred in 49 (29.2%) cases, 4 (2%) patients died, all of whom had a stroke, and 10 (6%) presented CeAD recurrence. In univariate analyses, men (odds ratio [OR] 3.97, 95% confidence interval [CI] 1.97-8.00, P < 0.001), internal carotid artery CeAD (OR 2.82, 95% CI 1.38-5.78, P = 0.005) and vessel occlusion (OR 4.45, 95% CI 1.38-14.38, P = 0.035) increased stroke risk. Conversely, vertebral artery dissection (OR 0.35, 95% CI 0.16-0.74, P = 0.006) and longer symptom onset to admission (O-A) time (OR 0.79, 95% CI 0.70-0.90, P < 0.001) were associated to decreased stroke risk. After multivariate analysis, men (OR 2.88, 95% CI 1.32-6.27, P = 0.008) and O-A time (OR 0.80, 95% CI 0.69-0.92, P = 0.002) remained independently associated with stroke. CONCLUSION: CeAD presented commonly as a non-stroke entity, with favorable prognosis. Albeit to a higher frequency of CeAD in women, stroke occurred predominantly in men, who were admitted earlier.

[Inherited bleeding disorders in adolescents with excessive menstrual bleeding. Should we evaluate the fibrinolytic pathway?] / Trastornos hereditarios de la coagulación en adolescentes con sangrado menstrual excesivo, ¿debemos evaluar la vía fibrinolítica?

INTRODUCTION: Heavy Menstrual Bleeding (EMB) is a frequent problem in adolescence. The prevalence of inherited bleeding disorders (IBD) as a cause of EMB is not well established and the involvement of fibri nolytic pathway defects has been poorly explored. OBJECTIVE: To determine the prevalence of IBD and fibrinolysis defects in adolescents with EMBs. PATIENTS AND METHOD: 93 adolescents (11 to 18 years old) were included. Personal and family history of bleeding were obtained through a standard ized questionnaire. The following lab tests were performed: prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor quantification, and platelet count and function. Those patients who were not diagnosed with IBD were further evaluated with clot lysis time assay. RESULTS: 41 patients (44%) were diagnosed as IBD (Von Willebrand disease n = 28, platelet func tion defects n=8, mild hemophilia n = 5. Decreased clot lysis time was found in 31 patients. 54% of patients diagnosed with IBD had EMB as the first hemorrhagic manifestation. CONCLUSION: These results support the need to evaluate the coagulation process, including the fibrinolytic pathway in the study of adolescents with EMB.

Trastornos hereditarios de la coagulación en adolescentes con sangrado menstrual excesivo, ¿debemos evaluar la vía fibrinolítica? / Inherited bleeding disorders in adolescents with excessive menstrual bleeding: should we evaluate the fibrinolytic pathway?

Resumen: Introducción: El Sangrado Menstrual Excesivo (SME) es un problema frecuente en la adolescencia. La prevalencia de trastornos hereditarios de la coagulación (THC) como causa del SME no está bien establecida y la participación de defectos de la vía fibrinolítica ha sido poco explorada. Objetivo: Determinar la prevalencia de THC y defectos de la fibrinólisis en adolescentes con SME. Pacientes y Método: Se incluyeron 93 adolescentes, edad 11 a 18 años. Los antecedentes personales y familiares de sangra do se obtuvieron con un cuestionario estandarizado. Se controló exámenes: tiempo de protrom- bina (TP), tiempo de tromboplastina parcial activada (TTPa), estudio del factor Von Willebrand, recuento y función plaquetaria. Los pacientes que no fueron diagnosticados como THC, se evaluaron adicionalmente con el tiempo de lisis del coágulo. Resultados: 41 pacientes (44%) fueron diagnos ticados como THC: Enfermedad de Von Willebrand n = 28, defectos de la función plaquetaria n = 8, hemofilia leve n = 5. Se confirmó disminución del tiempo de lisis del coágulo en 31 pacientes. El 54% de pacientes diagnosticado como THC, tuvo SME como la primera manifestación hemorrágica. Conclusión: Estos resultados apoyan la necesidad de evaluación de la coagulación, incluyendo la vía fibrinolítica, en el estudio de adolescentes con SME.

Abstract: Introduction: Heavy Menstrual Bleeding (EMB) is a frequent problem in adolescence. The prevalence of inherited bleeding disorders (IBD) as a cause of EMB is not well established and the involvement of fibri nolytic pathway defects has been poorly explored. Objective: To determine the prevalence of IBD and fibrinolysis defects in adolescents with EMBs. Patients and Method: 93 adolescents (11 to 18 years old) were included. Personal and family history of bleeding were obtained through a standard ized questionnaire. The following lab tests were performed: prothrombin time (PT), activated partial thromboplastin time (aPTT), von Willebrand factor quantification, and platelet count and function. Those patients who were not diagnosed with IBD were further evaluated with clot lysis time assay. Results: 41 patients (44%) were diagnosed as IBD (Von Willebrand disease n = 28, platelet func tion defects n=8, mild hemophilia n = 5. Decreased clot lysis time was found in 31 patients. 54% of patients diagnosed with IBD had EMB as the first hemorrhagic manifestation. Conclusion: These results support the need to evaluate the coagulation process, including the fibrinolytic pathway in the study of adolescents with EMB.

Prevalence and Correlates of Injecting with Visitors from the United States Among People Who Inject Drugs in Tijuana, Mexico.

Cross-border infectious disease transmission is a concern related to drug tourism from the U.S. to Mexico. We assessed this risk among people who inject drugs (PWID) in Tijuana, Mexico. We measured the prevalence and identified correlates of injecting with PWID visiting from the U.S. among PWID in Tijuana using univariable and multivariable logistic regression. Of 727 participants, 18.5% injected during the past 6 months in Mexico with U.S. PWID described mostly as friends (63%) or acquaintances (26%). Injecting with U.S. PWID was independently associated with higher education [adjusted odds ratio (aOR) = 1.13/year], deportation from the U.S. (aOR = 1.70), younger age at first injection (aOR = 0.96/year), more lifetime overdoses (aOR = 1.08), and, in the past 6 months, backloading (aOR = 4.00), syringe confiscation by the police (aOR = 3.02) and paying for sex (aOR = 2.98; all p-values < 0.05). Nearly one-fifth of PWID in Tijuana recently injected with U.S. PWID, and their reported risk behaviors could facilitate cross-border disease transmission.

Dysregulation of mitochondrial function and biogenesis modulators in adipose tissue of obese children.

BACKGROUND/OBJECTIVES: We aimed to evaluate mitochondrial biogenesis (MB), structure, metabolism and dysfunction in abdominal adipose tissue from male pediatric patients with obesity. SUBJECTS/METHODS: Samples were collected from five children with obesity (percentile ⩾95) and five eutrophic boys (percentile ⩾5/⩽85) (8-12 years old) following parental informed consent. We analyzed the expression of key genes involved in MB (sirtuin-1 (SIRT1), peroxisome proliferator-activated receptor-γ (PPARγ), PPARγ coactivator-1α (PGC1α), nuclear respiratory factors 1 and 2 (NRF1, NRF2) and mitochondrial transcription factor A (TFAM) and surrogates for mitochondrial function/structure/metabolism (porin, TOMM20, complex I and V, UCP1, UCP2, SIRT3, SOD2) by western blot. Citrate synthase (CS), complex I (CI) activity, adenosine triphosphate (ATP) levels, mitochondrial DNA (mtDNA) content and oxidative stress end points were also determined. RESULTS: Most MB proteins were significantly decreased in samples from children with obesity except complex I, V and superoxide dismutase-2 (SOD2). Similarly, CS and CI activity showed a significant reduction, as well as ATP levels and mtDNA content. PPARγ, PGC1α, complex I and V and SOD2 were hyperacetylated compared with lean samples. Concurrently, in samples from children with obesity, we found decreased SOD2 activity and redox state imbalance highlighted by decreased reduced glutathione/oxidized glutathione (GSH/GSSG) ratio and significant increases in protein carbonylation. CONCLUSIONS: Adipose tissue from children with obesity demonstrates a dysregulation of key modulators of MB and organelle structure, and displays hyperacetylation of key proteins and altered expression of upstream regulators of cell metabolism.

Tiroplastía de medialización con Gore-Tex®: experiencia de 8 años en Hospital Clínico de la Universidad de Chile / Medialization thyroplasty with Gore-Tex®: 8 years experience in Clinical Hospital of the University of Chile

Introducción: La parálisis de cuerda vocal causa disfonía y puede ser complicación posterior a ciertas cirugías. Existen diversos tratamientos, uno de ellos es la tiroplastía de medialización, procedimiento realizado con anestesia local, permitiendo un fino ajuste de la voz. Objetivo: Analizar la experiencia en tiroplastía de medialización con Gore-tex® en el Hospital Clínico de la Universidad de Chile entre los años 2008-2016. Material y método: Estudio descriptivo, retrospectivo, con revisión de fichas clínicas de los pacientes que fueron sometidos a tiroplastía de medialización. Para el análisis de los datos se utilizará la prueba Wilcoxon. Resultados: Se analizaron datos de 21 pacientes, correspondientes a 24 tiroplastías de medialización. La edad promedio fue 54,2 años, 13 parálisis fueron secundarias a cirugía y 8 idiopáticas. En 17 pacientes se obtuvo la encuesta VHI-10 en el pre y posoperatorio, con valores promedio de 33,2y 17,4 (p =0,0003). Cinco pacientes requirieron de algún procedimiento complementario, entre 4 y 22 meses poscirugía: inyección de grasa, de Radiesse y refuerzo con otra prótesis de Gore-teX®. Conclusión: La tiroplastía de medialización es excelente para tratar la parálisis de cuerda vocal unilateral no recuperada en forma espontánea, siendo la encuesta VHI-10 una buena herramienta para evaluar la calidad de la voz.

Introduction: Vocal cord paralysis can cause hoarseness and coud be a complications to following certain surgeries. In its treatment, there are several alternatives, one of them is the medialization thyroplasty. This procedure, is performed under local anesthesia, allowing the fine-tune of the voice. Aim: To analyze the experience in Medialization Thyroplasty with Gore-tex in the Clinical Hospital of the University of Chile between 2008 and 2016. Material and method: Retrospective and descriptive, with the review of patient's clinical records who were treated with medialization thyroplasty. The data analysis is done using Wilcoxon test. Results: Data from 21 patients, corresponding to 24 medialization thyroplasty. The average age was 54.2 years old, 13 paralysis were secondary to surgeries and 8 were Idiopathic. In 17 patients it was posible to get the VHI-10 survey in the pre and postoperative, with an average value of 33.2 and 17.4 (p =0.0003). Five patients required some additional procedure, between 4 and 22 months post surgery: injection of fat, Radiesse and installation of a new Gore-tex prosthesis Conclusions: Medialization thyroplasty is an excellent method to treat paralysis of unilateral vocal cord in cases when is not recovered spontaneously, being the VHI-10 survey a good tool for assessing voice quality.

Síndrome de Down en otorrinolaringología / Down Syndrome in Otolaryngology

El síndrome de Down es la cromosomopatía más frecuente en Chile. Los pacientes portadores de este síndrome presentan una serie de dismorfias y malformaciones congénitas. Muchas patologías secundarias a estos trastornos son de la esfera otorrinolaringológica. Existen alteraciones otológicas, rinosinusitis crónica, apnea obstructiva del sueño, obstrucción de la vía aérea, inestabilidad atlantoaxial, etc. Se realiza una revisión bibliográfica y se describen las patologías más relevantes y su enfrentamiento.

Down syndrome is the most common chromosomal abnormality in Chile. The patients with this syndrome have a number of dysmorphic features and congenital malformations. Many secondary pathologies of these disorders are ENT sphere. There otologic disorders, chronic rhinosinusitis, obstructive sleep apnea, airway obstruction, atlantoaxial instability, etc. A literature review is performed and the most relevant diseases and confrontation are described.

Quantitative impact of using different criteria for the laboratory diagnosis of type 1 von Willebrand disease.

INTRODUCTION: Only ± 50% of patients with type 1 von Willebrand disease (VWD) have recognized molecular defects and diagnosis still rests on demonstrating low plasma von Willebrand factor (VWF) protein/function. However, no generalized consensus exists regarding the type and number of VWF variables that should be considered for diagnosis. AIM: To compare the quantitative impact of four different criteria to diagnose type 1 VWD. METHODS: We tested four laboratory criteria on 4298 laboratory studies during a 5-year period. The first was the National Heart, Lung, and Blood Institute recommendation, which diagnoses type 1 VWD with plasma VWF antigen (VWF:Ag) and VWF ristocetin cofactor (VWF:RCo) < 30 IU dL(-1) and possible VWD/'low VWF' with values between 30 and 50 IU dL(-1) . Second, diagnosis was established when two of three variables, VWF:Ag, VWF:RCo, VWF collagen binding assay (VWF:CB), were ≤ 2.5th percentile. Diagnostic criterion for possible VWD/'low VWF' using percentiles was also described. The third criterion (European Group on von Willebrand Disease, EUVWD), uses a plasma level of VWF:RCo (or VWF:CB) ≤ 40 IU dL(-1) for diagnosis. Finally, the Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCBVWD) diagnoses VWD if VWF:Ag or VWF:RCo are ≤ 40 IU dL(-1) . RESULTS: The three assays had high correlation and excellent agreement at levels < 120 IU dL(-1) . The National Heart, Lung, and Blood Institute recommendation was followed to diagnose 122 (2.8%) patients with type 1 VWD and 704 (16.4%) with possible VWD/'low VWF.' Using percentiles, the diagnosis of type 1 VWD increased to 280 (6.5%) patients; 169 (3.9%) patients had possible VWD and 180 (4.2%) patients had 'low VWF.' Diagnoses using EUVWD and ZPMCBVWD criteria increased to 339 (7.9%) and 357 (8.3%) patients, respectively. DISCUSSION: Identical data, analyzed using different criteria, led to almost three-fold difference (2.8-8.3%) in diagnostic rate. This increase is mostly explained by increasing the cut-off values of VWF measurements from < 30 to ≈ 40 IU dL(-1) . Further refinement of the laboratory diagnosis of type 1 VWD is a priority.

Asma agudo severo en niños: ¿fenotipo diferente? / Severe asthma in children: a different phenotype?

Background: The magnitude of response to treatment of asthma exacerbations is variable and a significant proportion of them need hospitalization. Objectives: to define the profile of children that were hospitalized for severe asthma and the possible indicators and determinants of their poor responsiveness. Methods: a prospective study in 60 children 4 years or more of age with a search of the ethiology of the exacerbation and a study of the inflammatory profile in sputum. Results: 60 children between 4 and 15 years. 50 percent had a previous diagnosis of asthma without regular use of inhaled corticosteroids in two thirds. 40 percent had previous admissions for asthma. Etiology of the exacerbation was identified in 52 percent with Rhinovirus, human Metapneumovirus, RSV and Mycoplasma pneumoniae as the most frequent agents. Inflammatory profile was determined in 33 children: eosinophilic in 36 percent, eosinophilic/ neutrophilic in 64 percent. Conclusions: Severe asthma with serious exacerbations may be a phenotype whose outstanding aspects in this cohort were: previous hospitalizations, lack of prophylactic treatment, viral infections as frequent trigger, and combined inflammatory cell profile in sputum.

La magnitud de la respuesta al tratamiento de una exacerbación de asma es variable entre los pacientes y una proporción significativa de ellos debe hospitalizarse. Objetivos: Definir el perfil de los niños que se hospitalizaron por asma grave y los posibles indicadores y determinantes de la respuesta desfavorable al tratamiento. Método: Estudio prospectivo en niños de 4 años o más, con búsqueda etiológica de la exacerbación y estudio de perfil inflamatorio en esputo. Resultados: 60 niños entre 4 y 15 años. El 50 por ciento tenía diagnóstico previo de asma sin uso regular de corticoesteroides inhalados en dos tercios. Hospitalizaciones previas por asma en el 40 por ciento. La etiología de la exacerbación fue identificada en el 52 por ciento siendo los agentes más frecuentes Rhinovirus, Metapneumovius, VRS y Mycoplasma pneumoniae. El perfil inflamatorio fue determinado en 33 niños: eosinofílico en 36 por ciento y eosinoflico/neutroflico en 64 por ciento. Comentario: El asma severa con exacerbaciones graves sería un fenotipo cuyos aspectos destacados en esta cohorte serían: niños con hospitalizaciones previas, falta de tratamiento profiláctico, infección viral como desencadenante frecuente, patrón inflamatorio combinado del esputo y rinitis atópica.

Complicación del drenaje endoscópico en un paciente con absceso retroorbitario: caso clínico / Complication of an endoscopic drainage on a patient with a retro-orbital abscess: report of a case

La rinosinusitis aguda, puede presentar una serie de complicaciones conocidas, un grupo de ellas son las complicaciones orbitarias. Se presenta la historia de un paciente que consultó por proptosis ocular, siendo diagnosticado un absceso subperióstico retroorbitario secundario a una rinosinusitis aguda. Se trató con técnica endoscópica, evoluciona con un hematoma retroorbitario que tuvo que ser drenado con un abordaje mixto, endoscópico y abierto, con buena evolución. Actualmente las complicaciones orbitarias de la rinosinusitis aguda tienen una baja prevalencia, y así, las complicaciones del drenaje endoscópico son aún menos frecuentes. Se destaca la importancia del conocimiento del manejo tanto endoscópico como abierto.

Among acute rhinosinusitis complications, the ones with orbital involvement are relevant. We present a case report of a patient who presented proptosis and was initially diagnosed with a retro ocular abscess as a complication to an acute rhinosinusitis. The abscess was drained with an endoscopic sinus surgery. On the fourth post-surgery day a retro ocular hematoma was diagnosed. The hematoma was treated with a combined open and endoscopic approach with a favorable outcome. In conclusion, even though orbital complications of rhinosinusitis nowadays have low prevalence, and orbital complications of their endoscopic management are even rarer, it is important for the otorhinolaryngologist to be familiar with their open, endoscopic, or combined surgical treatment.

Rinoplastias: experiencia de un año en el departamento de Otorrinolaringología del Hospital Clínico Universidad de Chile / Rhinoplasties: one year experience in the Otolaryngology Department of the Hospital Clínico Universidad de Chile

Rhinoseptoplasty is a surgical procedure performed by otolaryngologists, that solves aesthetic and functional problems of the nose as a sole surgery. It can be performed as an open or closed approach either with or without the use of implants and or grafts. We hereby show a retrospective analysis of surgical protocols of patients on whom rhinoseptoplasty was done in our Unit during 2010. Epidemiological data, surgical techniques, surgical time, management of the tip and dorsum, grafts used and complications were analized. 111 rhinoseptoplasties were performed. 14 were excluded due to lack of information in the files. From 97 patients included in the study, 54 percent were female, mean age 29, and 46 percent were male, mean age 28 years. The 82 percent consulted for nasal obstruction. 95 percent were primary rhinoplasties. 54 percent were approached by open technique and 46 percent by closed technique. 73 percent needed nasal tip management, and in 94 percent nasal dorsum surgery was performed. Grafts were used in 84 percent of cases, being the columellar strut preferred by the surgeon. There were no complications recorded. We conclude that this surgery was performed in a homogeneous way, mostly in patients with nasal obstructive symptom. There was a predominance of primary surgery with an extensive use of grafts.

Hipoacusia súbita: experiencia de un año / Sudden hearing loss: a one-year experience

Introducción: La hipoacusia súbita es un cuadro clínico que presenta controversias tanto en su etiología, como en su tratamiento. Existen escasos estudios en la literatura nacional sobre este tema. Objetivo: Evaluar la incidencia del cuadro de hipoacusia súbita en un año, en el Hospital Clínico de la Universidad de Chile, analizar características epidemiológicas, clínicas, y del tratamiento. Material y método: Estudio retrospectivo realizado en el Hospital Clínico de la Universidad de Chile, revisando fichas clínicas entre Diciembre del año 2004 hasta Noviembre de 2005, con diagnóstico de hipoacusia súbita. Resultados: Se realizó el estudio con 43 pacientes con diagnóstico de hipoacusia súbita. La mayoría recibió tratamiento corticoidal. El 28% de los pacientes mejoraron, el 18,7% tuvo una recuperación parcial, 9,3% recuperación total, no presentaron mejoría el 72%. Se encontró asociación entre menor edad y mejoría en forma casi significativa. Se encontró una asociación entre mejoría y compromiso del oído derecho en forma significativa. Conclusión: La mayoría de los hallazgos son comparables con la literatura nacional e internacional, la asociación mejoría v/s oído derecho debe ser validada por nuevos estudios.

Introduction. Sudden hearing loss (SHL) is a medical condition somewhat controversial in its etiology and treatment. There are few reports of SHL in the local literature. Aim. Jo assess the incidence of SHL at the University of Chile Hospital during a year-long period, analyzing the epidemiological, clinical and treatment characteristics. Material and Method. Restrospective review of SHL clinical data between December 2004 and November 2005. Results. Forty three patients diagnosed with SHL were included. Most were treated with corticoids. In 28% of cases, there was an improvement of the condition. Of these, in 18.7% there was a partial improvement, and in 9.3% a complete recovery. There was no improvement in 72% of the cases. The relation between age and recovery was almost significant. A significant relation between improvement and right ear involvement was found. Conclusion. Most of our findings are similar to those reported in the literature; the association between recovery an right ear involvement should be validated by future studies.