Geographic Distribution of Facial Plastic and Reconstructive Surgeons.

Background: Distribution of the general otolaryngology workforce has been described, but not specifically for the facial plastic and reconstructive surgeon (FPRS) workforce. Objective: To describe the distribution of FPRS within the United States. Methods: The 2022 American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) registry was used to identify active FPRSs. Member addresses were converted into coordinates and overlayed onto a geographic representation of 2020 census data within ArcGIS software. A centroid model of U.S. counties was constructed to determine the average distances residents were from the nearest FPRS. Results: In total, 1312 AAFPRS active members practiced in 373 counties. Thirty-three percent of all residents (115 million) resided in counties without an FPRS and 15.3% of FPRSs practiced in New York City or the Greater Los Angeles Area, which accounted for 8% of the total U.S. population. The mean and median distances a resident in a county without an FPRS was from the nearest FPRS are 63 and 49 miles (101 and 79 kilometers), respectively. Conclusions: Metropolitan areas have greater concentrations of FPRSs than the national average and the distances U.S. residents are from FPRS services are quantifiable.

15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.

BACKGROUND: The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient's clinical phenotype. CONCLUSIONS: This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.

The Open Brain Consent: Informing research participants and obtaining consent to share brain imaging data.

Having the means to share research data openly is essential to modern science. For human research, a key aspect in this endeavor is obtaining consent from participants, not just to take part in a study, which is a basic ethical principle, but also to share their data with the scientific community. To ensure that the participants' privacy is respected, national and/or supranational regulations and laws are in place. It is, however, not always clear to researchers what the implications of those are, nor how to comply with them. The Open Brain Consent (https://open-brain-consent.readthedocs.io) is an international initiative that aims to provide researchers in the brain imaging community with information about data sharing options and tools. We present here a short history of this project and its latest developments, and share pointers to consent forms, including a template consent form that is compliant with the EU general data protection regulation. We also share pointers to an associated data user agreement that is not only useful in the EU context, but also for any researchers dealing with personal (clinical) data elsewhere.

Distrofia muscular de cinturas 2J, revisión bibliográfi-ca y reporte de un caso pediátrico en Ecuador / 2J girdle muscular dystrophy, bibliographic review and report of a pediatric case in Ecuador

RESUMEN La distrofia muscular de cinturas de las extremidades (LGMD, por sus siglas en inglés) incluye varios trastornos con etiologías heterogéneas. Se heredan en patrón autosómico recesivo o autosómico dominante y constituyen la cuarta causa genética más común de debilidad muscular, reportando una prevalencia de 1 en 20,000. Las manifestaciones clínicas son inespecíficas, pueden presentarse desde la primera infancia hasta la edad adulta, dependiendo del subtipo de la enfermedad y de la proteína afectada. El diagnóstico inicial se realiza mediante pruebas genéticas antes de obtener una biopsia muscular. Hasta la actualidad no hay tratamientos que modifiquen la evolución de la enfermedad. El propósito de la terapia es conservar la independencia funcional y tratar las complicaciones asociadas, manteniendo al máximo la calidad de vida.A continuación se reporta el caso de un paciente pediátrico, residente en Quito, Ecuador sin antecedentes patológicos ni familiares previos, con alteración de la motricidad fina progresiva dado por trastorno motor en manos, dedos en flexión, hipotrofia de eminencias tenar e hipotenar y atrofia de interóseos de manos, se realizan estudios en relación a neuropatía periférica distal con afectación de sensibilidad bilateral y simétrica, encontrando como única variante, cambios electromiográficos: polineuropatía crónica, sensitiva y motora de predominio axonal, (desmielinizante en menor grado), de grado marcado presumi-blemente de etiología hereditaria. El diagnostico final lo determinó estudio genético con mutación del gen TTN en relación con: Distrofia muscular de cinturas, tipo 2J (CINTURA ESCAPULAR DE PREDOMINIO DISTAL).

ABSTRACT Limb girdle muscular dystrophy (LGMD) includes several disorders with heterogeneous etiologies. They are inherited in an autosomal recessive or autosomal dominant pattern and constitute the fourth most common genetic cause of muscle weakness, reporting a prevalence of 1 in 20,000. The clinical manifestations are nonspecific, can begin from early childhood to adulthood depending on the subtype of the disease and the protein affected. The initial diagnosis is made by genetic testing before obtaining a muscle biopsy. To date there are no treatments that modify the evolution of the disease. The purpose of therapy is to preserve functional independence and treat associated complications, maintaining quality of life as much as possible.The following is the case of a pediatric patient, resident in Quito, Ecuador with no prior family or pathological history, with progressive fine motor disorder due to motor disorder in the hands, flexed fingers, hypotrophy of tenar and hypothenar eminences, and atrophy of interosseous hands, studies are performed in relation to distal peripheral neuropathy with bilateral and symmetrical sensitivity involvement, finding electromyographic changes as the only variant: chronic, sensitive and motor polyneuropathy with axonal predominance (demyelinating to a lesser degree), of marked degree presumably of hereditary etiology. The final diagnosis was determined by a genetic study with a mutation of the TTN gene in relation to: Girdle Muscular dystrophy, type 2J (DISTAL PREDOMINANT SCAPULAR GIRDLE).

Complicaciones neurológicas en un niño con neumonía por influenza: reporte de caso clínico / Neurological complications in a child with influenza pneumonia: clinical case report

RESUMEN La influenza es una enfermedad endémica transmisible, en Ecuador los subtipos de virus que circulan son A(H1N1), A (H3N2) y tipo B. Existen dos picos de circulación del virus que fueron registrados en Ecuador en los años 2016 y 2018, siendo éste último el de mayor incidencia. Las complicaciones neurológicas asociadas a la influenza han sido descritas de manera poco frecuente, representando el 10% de los niños afectados y los reportes que existen la mayoría son de niños y adultos jóvenes. En el presente artículo se reporta un caso ocurrido en el 2018 de un lactante mayor con cuadro de neumonía por Influenza A/H3, Influenza A/pan1, Influenza A/pan2, virus Parainfluenza 1, complicada con derrame pleural izquierdo y atrofia cerebral y microhemorragias cerebrales.Palabras claves: Influenza; neumonía; neurología; derrame pleural; atrofia cerebral; hemorragia cerebral; informes de caso

BSTRACT Influenza is a transmissible endemic disease, in Ecuador the virus subtypes that circulate are A (H1N1), A (H3N2) and type B. There are two peaks of virus circulation that were registered in Ecuador in 2016 and 2018, the latter being the one with the highest incidence. The neurological complications associated with influenza have been described infrequently, representing 10% of the affected children and the reports that there are the majority are of children and young adults. This article presents a case in 2018 of an older infant with Influenza A / H3 pneumonia, Influenza A / pan1, Influenza A / pan2, Parainfluenza virus 1, complicated with left pleural effusion and cerebral atrophy and cerebral microhemorrhages.Keywords: Influenza; pneumonia; neurology; pleural effusion; Brain atrophy; cerebral haemorrhage; case reports.Correspondencia: Paúl MoscosoTeléfonos: (593) 987 038 828e-mail: paulmoscoso@hotmail.comIDs OrcidPaúl Moscoso: https://orcid.org/0000-0001-9018-7611Dayana Navarro: https://orcid.org/0000-0001-8601-9965Nicolás Espinosa:https://orcid.org/0000-0001-9825-0136

Malformación vascular oculta: telangiectasia capilar. Reporte de un caso / Occult vascular malformation: capillary telangiectasia. A case report

RESUMEN: La telangiectasia capilar es una alteración vascular caracterizada por una colección de capilares dilatados que carecen de componente muscular y elástico; se presenta entre el parénquima cerebral normal y constituye el 16 a 20% de todas las malformaciones vasculares intracraneales; ocupa el segundo lugar en frecuencia. Su localización más habitual es la protuberancial; es asintomática, excepto cuando se acompaña de otras malformaciones vasculares o son parte de síndromes de tipo vascular. Su diagnóstico, en casi todos los casos se lo efectúa por los hallazgos incidentales de los estudios de imagen realizados por otras causas. Aunque la telangiectasia capilar pasa desapercibida tanto en la tomografía axial computarizada (TAC) como en la resonancia magnética nuclear (RMN) sin contraste, con el gadolinio endovenoso se observa una lesión hiperintensa, irregular, con apariencia de "cepillo", sin definición individual de los vasos. Se presenta el caso de un paciente de 1 año 2 meses de edad, previamente sano, que ingresó con sintomatología de meningoencefalitis y estatus convulsivo. Se realizó los estudios de resonancia magnética simple, contrastada y angiorresonancia, en los cuales se identificó, de manera incidental, telangiectasia capilar protuberancial, visible únicamente en el estudio contrastado. Se realiza una revisión bibliográfica de dicha patología.Palabras claves: telangiectasia capilar, malformaciones vasculares, resonancia magnética.

ABSTRACT: Capillary telangiectasia is defined as a collection of dilated capillary vessels, without muscular and elastic components, situated within otherwise normal brain parenchyma and accounts for 16-20% of all intracranial vascular malformations, representing the second most common one. It is most frequently found in the pons and it has an asymptomatic natural course, except when the lesions are associated with other vascular malformations or are part of a vascular syndrome. Most are diagnosed as incidental findings in imaging studies performed for other causes. Capillary Telangiectasia is invisible in Computed Tomography and Magnetic Resonance without contrast, however, after intravenous administration of Gadolinium, it will present as a hyperintense, irregular, "brush-like" enhancing lesion, without individual definition of the vessels. We describe the case of a 1 year and 2 months old patient, previously healthy, who presented with signs of meningo-encephalitis and epileptic status. A Magnetic Resonance Image with and without contrast and an angioresonance were performed, in which, as an incidental finding, a pontine Capillary Telangiectasia, visible only in contrasted images was found. A bibliographic review of said pathology is presented in this article.Keywords:capillary telangiectasia, vascular malformations, magnetic resonance.

Intraoperative parathyroid hormone levels ≤40 pg/mL are associated with the lowest persistence rates after parathyroidectomy for primary hyperparathyroidism.

BACKGROUND: Intraoperative parathyroid hormone (IOPTH) monitoring is used to predict biochemical cure during parathyroidectomy for primary hyperparathyroidism; however, there is variability in the intraoperative parathyroid hormone criteria used by surgeons to predict normocalcemia after parathyroidectomy. This study sought to determine the intraoperative parathyroid hormone criteria correlated with the lowest rates of persistent hyperparathyroidism after parathyroidectomy for primary hyperparathyroidism. MATERIALS AND METHODS: This is a retrospective cohort study of 2,654 patients with primary hyperparathyroidism who underwent parathyroidectomy with intraoperative parathyroid hormone monitoring at a single institution from 1999 to 2014. Multivariate logistic regression analysis was used to measure the association between the lowest intraoperative parathyroid hormone level and the persistence of primary hyperparathyroidism after parathyroidectomy. RESULTS: A total of 66 patients (2.5%) had persistent hyperparathyroidism after parathyroidectomy. Using the traditional intraoperative parathyroid hormone criteria of a ≥50% decrease from the baseline level, the rate of persistent primary hyperparathyroidism was greater when intraoperative parathyroid hormone did not decrease to ≥50% from the baseline level (17 of 180 patients [9.4%] vs 49 of 2,474 [2.0%], [OR 5.9, 95% CI 3.2-10.5, P < .001]). Regardless of whether intraoperative parathyroid hormone decreased ≥50%, patients with a lowest intraoperative parathyroid hormone above the normal range (10-65 pg/mL) had greater persistence rates compared with patients with an intraoperative parathyroid hormone <65 pg/mL (30 of 350 [8.6%] vs 36 of 2,304 [1.6%], [OR 6.6, 95% CI 3.4-12.7, P < .001]). Furthermore, patients with a lowest intraoperative parathyroid hormone 40 to 65 pg/mL had increased rates of adjusted persistence compared with patients with lowest intraoperative parathyroid hormone ≤40 pg/mL (13 of 385 [3.4%] vs 23 of 1,919 [1.2%], [OR 4.2, 95% CI 2.0-8.7, P < .001]). Patients with lowest intraoperative parathyroid hormone <5 to 20 pg/mL did not have decreased rates of persistence compared with patients with lowest intraoperative parathyroid hormone 20 to 40 pg/mL (9 of 996 [0.9%] vs 14 of 923 [1.5%], [OR 0.5, 95% CI 0.2-1.2, P = .14]). CONCLUSION: Patients with a lowest intraoperative parathyroid hormone ≤40 pg/mL compared with the traditional criteria of a ≥50% decrease from baseline and a final parathyroid hormone in the normal range (<65 pg/mL) had the lowest rates of persistent primary hyperparathyroidism after parathyroidectomy for primary hyperparathyroidism. The single criteria of a lowest intraoperative parathyroid hormone level ≤40 pg/mL may best predict the lowest persistent disease rates after parathyroidectomy for primary hyperparathyroidism.

Encefalitis por enterovirus: análisis clínico y paraclínico en pacientes pediátricos de un hospital de tercer nivel en Quito-Ecuador, de enero a diciembre de 2016 / Enterovirus encephalitis: clinical and paraclinical analysis in pediatric patients in a tertiary hospital in Quito-Ecuador, from January to December 2016

La encefalitis es una entidad rara con manifestaciones clínicas variables. En los niños es usualmente leve y autolimitada. En 30 a 75% se desconoce la etiología y cuando el patógeno se identifica por PCR (reacción en cadena de la polimerasa), el 80% son enterovirus. En América Latina no están disponibles métodos específicos de diagnóstico. En nuestro país muy pocos centros realizan el examen y tampoco están disponibles estadísticas reales de su incidencia. Objetivo: correlacionar la etiología con los síntomas, resultados de laboratorio, imagen y electroencefalograma. Métodos: estudio transversal; de enero a diciembre de 2016 se revisaron las historias clínicas de 63 niños de 0 a 18 años hospitalizados con sospecha de encefalitis. Una vez identificado el enterovirus por PCR, se correlacionó con los hallazgos de los exámenes de laboratorio e imagen. Resultados: se confirmó encefalitis viral en 35 pacientes, enterovirus en 49%, predominio en la edad preescolar. Síntomas más comunes: fiebre, cefalea, signos meníngeos y síntomas digestivos, 24% alteraciones de la conciencia. Biometría hemática normal en 71%, proteina C reactiva alterada en 71%. De los pacientes con estudios de imagen, 6% tuvo resultado anormal y en aquellos con electroencefalograma 80% fue anormal. Se utilizó la U de Mann Whitney para el análisis estadístico, la relación entre enterovirus y alteración de estado de conciencia y síntomas digestivos fue significativa (p=0.029). Conclusión: en los pacientes con diagnóstico de encefalitis que presenten síntomas digestivos y alteración del estado de conciencia, se debe sospechar que el enterovirus es el agente etiológico.

Encephalitis is a rare entity with variable clinical manifestations. In children it is usually mild and self-limited. In 30-75% of cases, the etiology is unknown and when the pathogen is identified by PCR (polymerase chain reaction), 80% are enteroviruses. In Latin America specific diagnostic methods are not available. In our country very few centers carry out the specific test, real statistics of their incidence are not available Objective: To correlate etiology with symptoms, laboratory results, imaging and electroencephalogram. Methods: Cross-sectional study, clinical records of 63 children between 0 and 18 years hospitalized with suspected encephalitis from January to December 2016 were reviewed. Once Enterovirus was identified by PCR, it was correlated with the findings of laboratory and imaging tests. Results: Viral encephalitis was confirmed in 35 patients, Enterovirus in 49%, predominance in pre-school age. Most common symptoms: fever, headache, meningeal signs and digestive symptoms, 24% alterations of consciousness. Normal blood count in 71%, Protein C Reactive altered in 71%. In patients with imaging studies, 6% had an abnormal result and in those who underwent electroencephalography, 80% were abnormal. The Mann Whitney U was used for the statistical analysis, the relationship between enterovirus and alteration of consciousness and digestive symptoms was significant (p: 0.029) Conclution: In patients with a diagnosis of encephalitis presenting digestive symptoms and altered state of consciousness, Enterovirus should be suspected as an etiologic agent.

Protocolo del Hospital Metropolitano sobre dieta cetogénica / Protocol of the Metropolitan Hospital on a ketogenic diet

La epilepsia es la principal patología neurológica en los niños y, de estos casos, aproximadamente el 30% son fármaco-resistentes. La dieta cetogénica es un tratamiento alternativo, no farmacológico y efectivo para el manejo de los pacientes pediátricos con epilepsia refractaria. El servicio de Neuropediatría, en consenso, aprobó el protocolo de dieta cetogénica sustentándose en la bibliografía publicada y experiencia clínica en el Hospital Metropolitano para el manejo de los pacientes pediátricos diagnosticados de epilepsia refractaria.

Epilepsy is the principal neurological pathology in children, approximately 30% of these cases are drug-resistant. The ketogenic diet is a non-pharmacological effective treatment for the management of pediatric patients with refractory epilepsy. The consensus Neuropediatrics service approved this protocol based on published literature and clinical experience to implement the use of Ketogenic Diet in the Metropolitan Hospital for the management of pediatric patients with a diagnosis of refractory epilepsy.

El conocimiento inventariado. Apuntes criticos sobre el modelo de indexación de las publicaciones academicas en Colombia / Inventoried knowledge. Critical notes, on the model of indexing of academic publications in Colombia

En este ensayo nos proponemos compartir una serie de reflexiones sobre las condiciones existentes para la publicación de artículos académicos en Colombia. En particular nos interesa ofrecer elementos para el debate sobre la política de indexación de revistas académicas que ha definido el Departamento Administrativode Ciencia, Tecnología e Innovación para Colombia (Colciencias) por medio de su Sistema Nacional de Indexación y Homologación de Revistas Especializadas de CT+I Colombia (Publindex). En el ensayo destacamos algunas consecuencias de tal modelo, sustentado en la confianza y delegación que Colciencias tiene en un modelo de indexación establecido por dos empresas privadas y con ánimo de lucro: Thomson Reuters (Isi)™ y Scopus Elsevier™. El objeto principal del ensayo es contribuir al mejoramiento de las políticas editoriales agenciadas desde Colciencias.

This paper attempts to share a series of reflections on the existing conditions forthe publication of scholarly articles in Colombia. In particular, we are interested in providing some elements for the debate on the policy of indexing academic journals that the Administrative Department of Science, Technology and Innovation forColombia (Colciencias) and its National System of Indexing and Official Approval of Specialized Journals of CT+I Colombia (Publnidex), has defined, making emphasis on the consequences of this new model of indexing, which is supported in the almost exclusive recognition of journals that are indexed by two private profitmakingcompanies: Thomson Reuters (Isi)™ and Scopus-Elsevier.

trazos para una metodología que permita comprender las razones de éxito y fracaso regional del control territorial de las farc-ep / features for a methodology which allows the understanding of the reasons of the regional success and failure behind the territorial control of farc-ep: the perspective of the qualitative comparative analysis (csqca)

El siguiente artículo recoge la propuesta metodológica de una investigación que se formuló con el propósito de dar cuenta de las razones que explican la diferente presencia que, a nivel territorial, expresan las Farc al término del periodo 1998-2010, tiempo en que la estrategia contrainsurgente del estado colombiano si bien logró desplazar a esta guerrilla de algunas regiones del país, en otras no lo consiguió. La perspectiva metodológica aquí planteada propone una estrategia analítica para identificar, definir y comprender las causas de la diversidad regional de la geografía de la guerra en Colombia. Tal estrategia se enfocó desde una óptica comparada a partir de un modelo desarrollado por la ciencia política denominado Conjunto de Variables para el Análisis Comparativo Cualitativo (csQCA en sus siglas en inglés, crips set of Qualitative Comprative Analysis).

The following article contains the methodological proposal of a piece of research that was carried out in order to give an account of the reasons which explain the different presence that, at the territorial level, the FARC express, at the end of the 1998 – 2010 period. That was a time in which the counterinsurgency strategy of the Colombian State even though it managed to move the guerrillas in some regions of the country, in others did not. The methodological perspective, which is posed here, proposes an analytical strategy to identify, to define, and to understand the causes of the regional diversity of the geography of the war in Colombia. Such a strategy has shifted from a comparative perspective based on a model developed by the political science called Set of Variables for Qualitative Comparative Analysis (csQCA in its acronym in English, crips set of Qualitative Comparative Analysis).

Factores de riesgo para el desplazamiento, protección de tierras y garantías de no repetición en zonas vulnerables de antioquia / Socio-demographic profile of Displaced population in antioquia

El siguiente artículo es un informe de investigación que recoge apartes del documento sobre el estado actual del Goce Efectivo de Derechos de la población víctima del desplazamiento Forzado en Antioquia. El artículo se centra, en particular, en establecer de manera estadística tanto el comportamiento anual del desplazamiento forzado desde 1997 como de algunos indicadores del conflicto armado en territorios vulnerables del departamento (reconocidos como aquellos sobre los cuales han recaído alertas tempranas). Para tal efecto el artículo da cuenta de la metodología utilizada para dimensionar el nivel de protección que cuentan los territorios, ofrece un balance de algunas afectaciones que vulneran la seguridad de tales zonas (acciones armadas, homicidios, eventos de minas antipersona) y establece el estado y alcance actual de la protección de tierras en Antioquia.

This article contains the main results of a research oriented to the carrying out of a demographic characterization of the population victim of displacement in Antioquia. In order to carry out a rigorous exercise that would pick up the conditions of life of this population, the research team designed a methodological strategy starting from the crossing of different official databases. Such a strategy enabled the characterization of reliable, up-to-date and verifiable data on more than the third part of the population.

Gliosarcoma cerebeloso: presentación de un caso / Cerebellar gliosarcoma: case report

El gliosarcoma es un tumor intraaxial poco frecuente, más aún en la edad pediátrica, que se caracteriza por un patrón bifásico en el cual alternan áreas de diferenciación glial y mesenquimal. Constituye del 2 por ciento al 8 por ciento de todos los glioblastomas multiformes. Las manifestaciones clínicas dependen de la localización y la extensión del tumor. El diagnóstico se apoya en estudios de imagen, sin embargo el diagnóstico defInitivo está dado por el estudio anátomo-patológico. El gliosarcoma es un tumor de alto grado y pobre pronóstico, con alta tasa de recurrencia. A continuación presentamos el el caso de un paciente masculino de 6 años de edad con diagnóstico de gliosarcoma cerebeloso.