Características visuales en el albinismo: Revisión sistemática

El albinismo es una condición compleja, en muchos casos incapacitante, afectando a muchas personas alrededor del mundo, incluso puede conducir a la muerte. Los problemas visuales más comunes que pueden existir en el albinismo con fotofobia son defectos refractivos con medidas considerables, problemas a nivel de fondo de ojo, fotofobia y translucencia de iris. La realidad actual estima que 1 de cada 10.000 personas tienen albinismo y pueden presentar estos problemas visuales. Objetivo. Identificar las características visuales en cada tipo de albinismo presentados en los estudios de Latinoamérica durante el periodo 2014-2022. Metodología. Se realizó una revisión sistemática. Como criterios de inclusión se tomó en cuenta el año de publicación de las fuentes. Se utilizaron los siguientes descriptores de búsqueda en español y en inglés: "albinismo", "tipos de albinismo" y "complicaciones albinismo", "albinism", "albinism types", "albinism issues". Resultados. Fueron seleccionados 22 artículos obtenidos de Google Académico, revistas como pubmed, scielo, Elsevier, tesis, de los cuales y basado en controles de calidad se analizaron 12 fuentes. Conclusión. La mayoría de estudios describen tratamientos posibles para el albinismo. Se resaltan hallazgos clínicos que destacan las características en los tipos de albinismo como lo son problemas a nivel del nervio óptico como la hipoplasia, y disminución de la agudeza visual, nistagmus y en ocasiones el problema de posición compensatoria de cabeza.

Albinism is a complex condition, in many cases disabling, affecting many people around the world, and can even lead to death. The most common visual problems that may exist in albinism with photophobia are refractive defects with considerable measurements, problems at the fundus level, photophobia and iris translucency. Current reality estimates that 1 in 10,000 people have albinism and may present with these visual problems. Objective. To identify the visual characteristics in each type of albinism presented in studies in Latin America during the period 2014-2022. Methodology. A systematic review was performed. The year of publication of the sources was taken into account as inclusion criteria. The following search descriptors were used in Spanish and English: "albinism", "types of albinism" and "albinism complications", "albinism", "albinism types", "albinism issues". Results. Twenty-two articles obtained from Google Scholar, journals such as pubmed, scielo, Elsevier, theses were selected, from which and based on quality controls 12 sources were analyzed. Conclusion. Most studies describe possible treatments for albinism. Clinical findings that highlight the characteristics in the types of albinism such as problems at the level of the optic nerve as hypoplasia, and decreased visual acuity, nystagmus and sometimes the problem of compensatory head position are highlighted.

O albinismo é uma condição complexa e, em muitos casos, incapacitante, que afeta muitas pessoas em todo o mundo e pode até levar à morte. Os problemas visuais mais comuns que podem existir no albinismo com fotofobia são defeitos de refração de tamanho considerável, problemas no nível do fundo do olho, fotofobia e translucidez da íris. A realidade atual estima que 1 em cada 10.000 pessoas tem albinismo e pode apresentar esses problemas visuais. Objetivo. Identificar as características visuais em cada tipo de albinismo apresentado em estudos na América Latina durante o período de 2014 a 2022. Metodologia. Foi realizada uma revisão sistemática. O ano de publicação das fontes foi levado em consideração como critério de inclusão. Foram usados os seguintes descritores de busca em espanhol e inglês: "albinismo", "tipos de albinismo" e "complicações do albinismo", "albinismo", "tipos de albinismo", "questões de albinismo". Resultados. Foram selecionados 22 artigos do Google Scholar, revistas como pubmed, scielo, Elsevier, teses, dos quais 12 fontes foram analisadas com base em controles de qualidade. Conclusão. A maioria dos estudos descreve possíveis tratamentos para o albinismo. Os achados clínicos destacam as características dos diferentes tipos de albinismo, como problemas no nervo óptico, como hipoplasia, diminuição da acuidade visual, nistagmo e, às vezes, problemas compensatórios na posição da cabeça.

Cirugía ortognática y rehabilitación implantosoportada simultáneas mediante implantes subperiósticos o supraóseos personalizados / Simultaneous orthognathic surgery and implant-supported rehabilitation using customized subperiosteal or supraosseous implants

Presentamos un caso clínico donde, utilizando implantes subperiósticos o supraóseos, es decir, estructuras metálicas tridimensionales personalizadas de titanio fabricadas de forma digital, hemos conseguido realizar dos objetivos a la vez: 1) la corrección de una severa deformidad facial, y 2) dotar a la paciente de fijaciones o implantes para la rehabilitación implantosoportada de su edentulismo maxilar completo. No tenemos constancia de ningún caso similar publicado en la literatura a día de hoy.Creemos que esta nueva técnica, relativamente sencilla, puede ser una alternativa a las cirugías complejas que involucran el empleo de complicados injertos óseos, con el consiguiente ahorro en tiempo y morbilidad para los pacientes que asocian hipoplasia maxilar y edentulismo con grave atrofia ósea. (AU)

We present a clinical case in which, using subperiosteal or supraosseous implants, that is to say, three-dimensional personalized metallic titanium structures manufactured digitally, we have managed to achieve two objectives at the same time: 1) correction of a severe facial deformity, and 2) furnish the patient with fixations or implants for the implant-supported rehabilitation of her complete maxillary edentulism. We are not aware of any similar case published in the literature to date.We believe that this new, relatively simple technique can be an alternative to complex surgeries that involve the use of complicated bone grafts, with the consequent savings in time and morbidity for patients who associate maxillary hypoplasia and edentulism with severe bone atrophy. (AU)

Prevalencia de los defectos de desarrollo del esmalte de la especialidad de odontologia infantil en la UJAT 2021-2022 / Prevalência de defeitos de desenvolvimento do esmalte da especialidade de odontologia infantil da UJAT 2021-2022 / Prevalence of enamel development defects of the specialty of children's dentistry at the UJAT 2021-2022

Objetivo: Conocer la prevalencia de los Defectos del desarrollo del esmalte en pacientes de la especialidad de odontología infantil en la UJAT. Material y Método: Se realizó un estudio observacional, transversal, prospectivo, cuantitativo, que permitirá conocer la frecuencia y prevalencia de los defectos del esmalte en pacientes infantiles de la especialidad de odontología infantil de la UJAT. La población de estudio fue finita a conveniencia del investigador ya que se conoce el número de pacientes que integran el estudio. La investigación se llevó a cabo con un universo de 300 pacientes con una población analizada de entre 0 a 15 años de la cual se obtuvo una muestra de 195 pacientes durante el periodo 2021-2022, con un intervalo de confianza del 95% y un margen de error del 5%. Variables: edad, género, arcada con mayor afectación, cantidad de órganos dentales y tipo de dentición. Resultados: El defecto del esmalte más prevalente resultó ser Hipoplasia seguido del HIM, con afectación principalmente del sexo femenino y en la edad de 4 a 8 años, se observó que ambas arcadas son afectadas, que la dentición mixta es la más afectada, los órganos dentales más afectados fueron los incisivos centrales y los 1ros molares, en relación con los antecedentes perinatales no se presentó alguna complicación como mayor afectación. Conclusiones: El principal defecto de la estructura del esmalte es la Hipoplasia y la presentan más las mujeres y el rango de edad donde se observó la mayor prevalencia es de 4 a 8 años

Objetivo: Conhecer a prevalência de defeitos de desenvolvimento do esmalte em pacientes especializados em odontologia infantil na UJAT. Material e Método: Foi realizado um estudo observacional, transversal, prospectivo, quantitativo, que permitirá conhecer a frequência e prevalência de defeitos de esmalte em pacientes crianças da especialidade de odontologia infantil da UJAT. A população do estudo foi finita para a conveniência do investigador, uma vez que o número de pacientes no estudo é conhecido. A pesquisa foi realizada com um universo de 300 pacientes com população analisada entre 0 e 15 anos de idade, dos quais foi obtida uma amostra de 195 pacientes no período de 2021 a 2022, com intervalo de confiança de 95% e margem de erro de 5%. Variávis: idade, sexo, arco com maior envolvimiento, número de órgaõs dentários e tipo de dentição. Resultados: O defeito do esmalte mais prevalente foi a Hipoplasia seguida pela HIC, com acometimento principalmente feminino e na idade de 4 a 8 anos, observou-se que ambos os arcos são acometidos, que a dentição mista é a mais acometida, os órgãos dentários mais afetados foram os incisivos centrais e os 1º molares, Em relação à história perinatal, não houve complicação como maior envolvimento. Conclusões: O principal defeito da estrutura do esmalte é a hipoplasia e é mais apresentado pelas mulheres e a faixa etária onde a maior prevalência foi observada é de 4 a 8 anos

Objective: To determine the prevalence of enamel defects in patients of the Specialty in Pediatric Dentistry in the UJAT. Material and Method: An observational, cross-sectional, prospective, quantitative study was carried out, which allowed to know the frequency and prevalence of enamel defects in child patients of the Specialty in Pediatric Dentistry at the UJAT. The study population was finite at the convenience of the researcher since the number of patients that make up the study is know. The research was carried out with a universe of 300 patients with a population analyzed population between 0 and 15 years of age from which a sample of 195 patients was obtained during the period 2021-2022, with a confidence interval of 95% and a margin of error of 5%. Variables: age, gender, arch with greater involvement, number of dental organs and type of dentition. Results: The most prevalent enamel defect turned out to be Hypoplasia followed by MIH, affecting mainly females and between the ages of 4 and 8 years, it was observed that both arches are affected, that the mixed dentition is the most affected, the most affected teeth stated were the central incisors and the first molars; In most cases, the perinatal history stated there was no complication as greater involvement. Conclusions: The main defect if enamel structure is Hypoplasia and it is presented more bye the women and the age range where the highest prevalence was observed is from 4 to 8 years

Hipoplasia del lóbulo hepático izquierdo asintomático, hallazgo transquirúrgico, tomográfico y patológico. Presentación de una rara entidad / Asymptomatic Hypoplasia of the Left Hepatic Lobe: Surgical Tomographic and Pathological Findings. Presentation of a Rare Entity

Resumen Antecedentes Las anomalías de la morfología hepática son raras, y se dividen en 2 categorías: las que resultan del desarrollo excesivo de tejido hepático, como el lóbulo de Riedel y otros lóbulos accesorios, y las de desarrollo deficiente del hígado, que incluyen agenesia, hipoplasia y aplasia de los lóbulos hepáticos. Presentación del caso Paciente del sexo masculino de 57 años de edad, sometido a plastia inguinal laparoscópica programada, donde se dio el hallazgo de hipoplasia hepática. Conclusión La hipoplasia hepática es poco frecuente, no presenta síntomas, ni repercusiones clínicas a largo plazo, suele ser un hallazgo incidental durante un estudio de imagen o durante un procedimiento quirúrgico abdominal.

Abstract Background: Abnormalities of liver morphology are rare, divided into two categories: those resulting from overgrowth of liver tissue, such as the Riedel lobe and other accessory lobes, and those with poor liver development include agenesis, hypoplasia and aplasia of the hepatic lobes. Presentation of the case 57-year-old man, subjected to laparoscopic programmed inguinal surgery, finding liver hypoplasia. Conclusions Hepatic hypoplasia is rare, has no symptoms or long-term clinical repercussions, is usually an incidental finding during an imaging study or during an abdominal surgical procedure.

Empleo de ventilación de alta frecuencia oscilatoria intraoperatoria en neonatos con hipoplasia pulmonar / Use of intraoperative high frequency oscillatory ventilation in neonates with pulmonary hypoplasia

La ventilación de alta frecuencia oscilatoria (VAFO) es una modalidad ventilatoria ampliamente utilizada en las unidades de cuidados intensivos neonatales. Su principal indicación es la patología pulmonar restrictiva con dificultad en alcanzar un adecuado intercambio gaseoso en ventilación mecánica convencional (VMC), siendo necesaria una elevada asistencia que puede suponer riesgo de barotrauma y volutrauma en un pulmón inmaduro. Las publicaciones sobre el empleo de VAFO en quirófano son limitadas y se reducen principalmente a su uso durante la reparación de hernia diafragmática congénita. La limitada experiencia de este método ventilatorio en quirófano puede suponer una barrera para el anestesiólogo. Sin embargo, es importante recordar los beneficios que esta modalidad ventilatoria aporta como estrategia de protección pulmonar. Se presentan dos casos de hipoplasia pulmonar neonatal de diferente etiología, en los que se empleó VAFO en el intraoperatorio con buenos resultados en la oxigenación y ventilación.(AU)

High-frequency oscillatory ventilation (HFOV) is a ventilatory modality widely used in neonatal intensive care units. Its main indication is restrictive lung pathology with difficult gas exchange using conventional mechanical ventilation (CMV). Patients receiving CMV require high intensity care, and immature lungs can be at risk for barotrauma and volutrauma. The few studies that have explored the use of HFOV in the operating room are mainly limited to HFVO during congenital diaphragmatic hernia repair. Limited experience of this ventilatory method in the operating room may be a disadvantage for the anesthesiologist. However, it is important to remember the benefits of this technique as a lung protection strategy. We report two cases of neonatal pulmonary hypoplasia of different etiology in which good oxygenation and ventilation was achieved with intraoperative HFOV.(AU)

Use of intraoperative high frequency oscillatory ventilation in neonates with pulmonary hypoplasia.

High-frequency oscillatory ventilation (HFOV) is a ventilatory modality widely used in neonatal intensive care units. Its main indication is restrictive lung pathology with difficult gas exchange using conventional mechanical ventilation (CMV). Patients receiving CMV require high intensity care, and immature lungs can be at risk for barotrauma and volutrauma. The few studies that have explored the use of HFOV in the operating room are mainly limited to HFVO during congenital diaphragmatic hernia repair. Limited experience of this ventilatory method in the operating room may be a disadvantage for the anesthesiologist. However, it is important to remember the benefits of this technique as a lung protection strategy. We report two cases of neonatal pulmonary hypoplasia of different etiology in which good oxygenation and ventilation was achieved with intraoperative HFOV.

Ocorrência e severidade da hipomineralização molar-incisivo em crianças e adolescentes: um estudo de painéis seriados / Occurrence and severity of molar-incisor hypomineralization in children and adolescents: a serial panel study

Introdução: A Hipomineralização Molar-Incisivo (HMI) é um defeito de desenvolvimento do esmalte, de origem sistêmica, que afeta pelo menos um primeiro molar permanente, podendo estar associado aos incisivos permanentes. Clinicamente é caracterizada como opacidades demarcadas de esmalte que podem variar de coloração (branco-creme ou amarelo-marrom). Objetivo: Estimar a ocorrência e a severidade da HMI em crianças e adolescentes e identificar os possíveis fatores associados à ocorrência da HMI. Metodologia: Foi realizado um estudo transversal em painéis seriados (2002 a 2011) e (2012 a 2021) que utilizou 230 prontuários de pacientes na faixa etária entre 06 e 12 anos, submetidos ao tratamento ortodôntico na Associação Brasileira de Odontologia entre os anos de 2002 e 2021. Os critérios diagnósticos utilizados foram a presença ou a ausência de opacidades demarcadas, restaurações atípicas, fraturas pós-irruptivas e extração de molar devido à HMI. Os dados coletados digitados e processados no programa SPSS, tratados estatisticamente através do teste do Qui-Quadrado para um nível de confiança de 95%. Resultados: A ocorrência de HMI em todo o período estudado foi de 26 casos dentre os 230 prontuários avaliados (o que representa 11,3% com IC de 95% de 7,21 a 15,39%). Desses, 03 casos são severos, o que equivale a 11,5% (com IC 95% de 5,00 a 18,00%). Foi observada uma associação da ocorrência da HMI com as variáveis gênero (masculino), idade (06 a 10 anos) e ano em que a documentação foi realizada (2012 a 2021). Conclusão: Esse trabalho evidencia que embora a ocorrência de HMI seja baixa em crianças e adolescentes de 06 a 12 anos, ela vem aumentando nos últimos anos. O percentual de indivíduos do gênero masculino e mais jovens com HMI é maior, apontando uma tendência de aumento da ocorrência de HMI nos próximos anos. Além disso, a maioria dos casos são leves, com um envolvimento maior de dentes molares em relação aos incisivos e de molares e incisivos maxilares em relação aos mandibulares. Esses achados são importantes para ajudar a formular estratégias para prevenir ou reduzir as consequências da HMI (AU).

Introduction: Molar-Incisor Hypomineralization (MIH) is an enamel development defect of systemic origin that affects at least one permanent first molar and may be associated with permanent incisors. Clinically, it is characterized as demarcated enamel opacities that can vary in color (white-cream or yellow-brown). Objective: To estimate the occurrence and severity of MIH in children and adolescents and identify possible factors associated with the occurrence of MIH. Methodology: A crosssectional study was carried out in serial panels (2002 to 2011) and (2012 to 2021) using 230 medical records of patients aged between 6 and 12 years, undergoing orthodontic treatment at the Brazilian Dental Association between 2002 and 2021. The diagnostic criteria used were the presence or absence of demarcated opacities, atypical restorations, post-rupturing fractures and molar extraction due to HMI. The collected data were typed and processed in the SPSS program, statistically treated using the chi-square test at a confidence level of 95%. Results: The occurrence of MIH throughout the study period was 26 cases among the 230 medical records evaluated (which represents 11.3% with a 95% CI of 7.21 to 15.39%). Of these, 03 cases are severe, which is equivalent to 11.5% (with CI 95% from 5.00 to 18.00%). An association was observed between the occurrence of MIH with the variables gender (male), age (06 to 10 years old) and year in which the documentation was carried out (2012 to 2021). Conclusion: This work shows that although the occurrence of MIH is low in children and adolescents from 6 to 12 years old, it has been increasing in recent years. The percentage of male and younger individuals with HMI is higher, indicating an increasing trend in the occurrence of HMI in the coming years. In addition, most cases are mild, with greater involvement of molar teeth compared to incisors and maxillary molars and incisors compared to mandibular ones. These findings are important to help formulate strategies to prevent or reduce the consequences of HMI (AU).

Variations of the cerebral arterial circle: morphological and clinical analysis / Variaciones del círculo arterial cerebral: análisis morfológico y clínico

SUMMARY: The variations knowledge of the cerebral arterial circle (CAC) is relevant due to its influence on the development of ischemic encephalic disorders. Among these variations, when the external diameter of the posterior communicating artery exceeds the posterior cerebral artery caliber, we have a fetal conformation of this circle. The aim of this study was to describe the variations of the CAC in Chilean individuals and to know the type of arterial conformation. Thirty adult brains were used to measure lengths and caliber of the pre-communicating segments of the anterior (A1) and posterior (P1) cerebral arteries, and the anterior (ACoA) and posterior (PCoA) communicating arteries. The arterial conformation type was established, and the length and caliber of these vessels were compared according to the right or left side. It was observed that 76.6 % of the CACs presented aplasia and / or hypoplasia. Of its components, PCoA was hypoplasic in 53.3 %, appearing bilaterally in 40 % of the subjects. The comparison according to the side, indicated that the mean length of A1 and PCoA on the right side was slightly higher. In the case of caliber, the mean of A1, P1 and PCoA was higher on the left side. Regarding P1 and PcoA caliber, 33 % of the CACs presented unilateral fetal conformation. Regardless of the variability presented by the CAC, there is consensus that PCoA exhibits the greatest variability. The understanding of this variability requires an analysis of the embryonic aspects that can explain the fetal conformation of the CAC in the adult.

RESUMEN: El conocimiento de las variaciones del círculo arterial cerebral (CAC) resultan relevantes por su influencia en el desarrollo de trastornos isquémicos encefálicos. De estas variaciones, los cambios del calibre de la arteria comunicante posterior (ACoP) determinan una conformación fetal de este círculo. El objetivo de este estudio fue describir las variaciones del CAC en individuos chilenos y conocer el tipo de conformación arterial. Se utilizaron 30 encéfalos adultos a los que se midieron las longitudes y calibres de los segmentos precomunicante de las arterias cerebrales anteriores (A1) y posteriores (P1), y de las arterias comunicante anterior (ACoA) y ACoP. Se estableció el tipo de conformación arterial y se comparó la longitud y calibre de estos vasos según lateralidad. Se observó que el 76,6 % de los CAC presentaron agenesias y/o hipoplasias. De sus componentes, la ACoP fue hipoplásica en el 53,3 %, presentándose bilateral en el 40 %. La comparación según lateralidad indicó que la longitud media de A1 y ACoP del lado derecho fueron levemente superiores. En el caso de los calibres, la media de A1, P1 y ACoP fue superior en el lado izquierdo. Respecto de los calibres de P1 y ACoP, el 33 % de los CAC presentaron conformación fetal unilateral. Independientemente de la variabilidad que presenta el CAC, existe consenso de que la ACoP exhibe la mayor variabilidad. La comprensión de esta variabilidad requiere un análisis de los aspectos embrionarios que pueden explicar la conformación fetal de esté círculo arterial en el adulto.

Evaluación del shunt portosistémico intrahepático transyugular (TIPS) como puente terapéutico al trasplante hepático en pacientes pediátricos / Evaluation of transjugular intrahepatic portosystemic shunt (TIPS) as a previous step to liver transplantation in pediatric patients

Introducción: El shunt portosistémico intrahepático transyugular(TIPS) es un procedimiento para tratar las complicaciones de la hiper-tensión portal. El objetivo del estudio es analizar los resultados de losTIPS realizados en nuestro centro, a pacientes pediátricos como puenteal trasplante hepático (TH).Material y métodos: Estudio retrospectivo y descriptivo de pacien-tes pediátricos con cirrosis hepática a los cuales se les ha realizado unTIPS previo al trasplante hepático entre los años 2015 y 2020.Resultados: Se realizó el TIPS a 10 pacientes. El motivo fue en 7por ascitis de difícil control (70%), un caso por hemorragia digestivaalta por varices esofágicas (10%) y en 2 por hipoplasia portal (20%).No hubo complicaciones intraoperatorias y en todos los casos se logrópermeabilidad de la endoprótesis.En 6 pacientes (60%) se observó permeabilidad del TIPS hasta elTH, en un paciente se observaron signos indirectos de permeabilidad(10%), 2 casos requirieron reintervención, lográndose permeabilidaden el segundo intento (20%) y en otra paciente (10%) no se observópermeabilidad tras 3 intentos.Se apreció una disminución del gradiente portocava (p = 0,001) yun aumento en la velocidad portal (p = 0,006). No se evidenció cambiosen la cifras de plaquetas y se produjo un ligero aumento del amonio,sin ser significativos.Conclusión: El TIPS es un procedimiento seguro y eficaz parapaliar las complicaciones de la hipertensión portal de difícil control enpacientes pediátricos. Nos permite optimizar el estado general, evitarel deterioro y paliar el estrechamiento de la vena porta de los pacientescirróticos como puente al TH.

Introduction: Transjugular intrahepatic portosystemic shunt (TIPS)was designed to treat complications of portal hypertension (PH). Theobjective of this study was to analyze the results of the TIPS performedin pediatric patients in our institution as a previous step to liver trans-plantation (LT).Materials and methods: A retrospective, descriptive study of pedi-atric patients with liver cirrhosis undergoing TIPS prior to LT from 2015to 2020 was carried out.Results: TIPS was performed in 10 patients. The reason for TIPSwas hard-to-control ascites in 7 patients (70%), upper gastrointestinalbleeding due to esophageal varices in 1 patient (10%), and portal hypo-plasia in 2 cases (20%). No intraoperative complications were recorded.Stent patency was achieved in all cases.TIPS patency until LT was observed in 6 patients (60%). Indirectsigns of patency were noted in 1 patient (10%). 2 patients (20%) requiredre-intervention, with patency being achieved in the second attempt. Andfinally, no patency was observed after 3 attempts in 1 patient (10%).A decrease in portocaval gradient (p = 0.001) and an increase inportal velocity (p = 0.006) were observed. No platelet count changeswere found. A slight, non-significant increase in ammonia was noted.Conclusion: TIPS is a safe and effective procedure to reduce com-plications of hard-to-control PH in pediatric patients. It allows generalcondition to be optimized, deterioration to be avoided, and portal veinnarrowing to be alleviated in cirrhosis patients as a previous step to LT.

Prevalence of anatomical variants of the Willis polygon in cadavers undergoing medico-legal necropsy / Prevalencia de variantes anatómicas del Polígono de Willis en cadáveres sometidos a necropsia medicolegal

The primary function of the circle of Willis is to provide collateral blood flow between the anterior and posterior arterial systems of the brain. Its configuration can vary considering its vascular structures, this being considered an anatomical variant. Our study aims to determine the prevalence of these, discriminated by sex in corpses subjected to medicolegal autopsy at the National Institute of Legal Medicine and Forensic Sciences in 2019, in Cali-Colombia. Retrospective observational descriptive study, of photographic records, inspection records and expert reports, where variables of age, sex, anatomical variants, compromised vascular structures are differentiated. Univariate and bivariate analyzes were performed. The population consisted of 194 cases, with a median age of 33 years (interquartile range between 23-45). 24.4% corresponded to the male sex. A prevalence of 25.3% of cases with non-classic polygon was observed. The most frequent anatomical variant was hypoplasia 14.9%. The vascular structure that presented the most anatomical variants was the posterior communicating artery with 17%.

La función principal del polígono de Willis es proporcionar flujo sanguíneo colateral entre los sistemas arteriales anterior y posterior del cerebro. Su configuración puede variar teniendo en cuenta sus estructuras vasculares, considerándose esto una variante anatómica. En este estudio analizamos la prevalencia de las variaciones, discriminada por sexo en cadáveres sometidos a necropsia medicolegal en el Instituto Nacional de Medicina Legal y Ciencias Forenses en el año 2019, en Cali-Colombia. Estudio descriptivo observacional retrospectivo, de registros fotográficos, actas de inspección e informes periciales, donde se diferencia variables de edad, sexo, variantes anatómicas, estructuras vasculares comprometidas. Se realizaron análisis uni y bivariados. La población estuvo conformada por 194 casos, con una mediana de edad de 33 años (rango intercuartil entre 23-45). El 24.4% correspondieron al sexo masculino. Un 25,3% de casosse encontró un polígono no clásico. La variante anatómica más frecuente fue la hipoplasia 14.9%. La estructura vascular que más variantes anatómicas presentó fue la arteria comunicante posterior con un 17%.

Algoritmo para el diagnóstico y tratamiento de la hipoplasia del timo pediátrica, asociada o no a inmunodeficiencia / Algorithm for diagnosis and treatment of thymus hypoplasia in childhood, associated or not with immune deficiency

Hace aproximadamente 20 años un grupo de médicos investigadores de Cuba reportaron el empleo de las mediciones del timo por ultrasonografía, como un arma valedera en la evaluación inmunológica de los niños menores de 7 años con cuadros de infecciones frecuentes, fundamentalmente respiratorias. El rango de normalidad propuesto del área de la silueta tímica, es entre 1010,6 - 1425,4 mm2, o sea, 1 218 ± 207,4 mm2. Por debajo y por encima de estos valores se hablaría de hipoplasia e hiperplasia, respectivamente. Se considera hipoplasia grave cuando el área tímica es menor de 500 mm2; moderada cuando se encuentra entre 500 y 799 mm2 y leve cuando se halla entre 800 y 999 mm2. Se propone un algoritmo de diagnóstico y tratamiento que engloba la experiencia clínica de 12 años de trabajo en inmunología clínica pediátrica en el Instituto de Hematología e Inmunología. Este puede constituir una herramienta útil en las manos de los inmunólogos clínicos pediátricos que adecuarían el tratamiento idóneo para llevar el órgano a su tamaño estándar con la consecuente disminución de los procesos infecciosos y la elevación de los niveles de inmunoglobulina A en los pacientes(AU)

About 20 years ago, a group of Cuban medical researchers reported to the literature the use of measurements of the thymus by ultrasonography, as a valid weapon in the immunological evaluation of children under 7 years of age with frequent infections, mainly respiratory. The range of normality proposed for the area of the thymic silhouette is between 1010.6 - 1425.4 mm2, that is, 1 218 ± 207.4 mm2. Below and above these values, we would speak of hypoplasia and hyperplasia, respectively. Severe hypoplasia is considered when the thymic area is less than 500 mm2; moderate when it is between 500 and 799 mm2 and mild when it is between 800 and 999 mm2. A diagnosis and treatment algorithm is proposed that encompasses the clinical experience of 12 years of work in pediatric clinical immunology at the Institute of Hematology and Immunology. It can be a useful tool in the hands of pediatric clinical immunologists who would adapt the ideal treatment to bring the organ to its standard size with the consequent decrease in infectious processes and the elevation of immunoglobulin A levels in patients(AU)

Manifestações bucais em portadores de epidermólise bolhosa residentes em um município baiano / Oral manifestations of epidermolysis bullosa in a municipality of the state of Bahia

Introdução: a Epidermólise Bolhosa hereditária (EB) é uma doença rara, caracterizada por formações de bolhas na pele e nas mucosas que sofrem mínimos traumas ou aparecem espontaneamente. As principais divisões de EB são Epidermólise Bolhosa Simples, Epidermólise Bolhosa Juncional, Epidermólise Bolhosa Distrófica e a Síndrome de Kindler. As manifestações bucais geralmente encontradas nos pacientes com EB são as bolhas no epitélio oral, microstomia, anquiloglossia, doença periondontal, hipoplasia do esmalte, cárie dentária, atrofia da maxila e prognatismo mandibular, variando para cada tipo da doença. Objetivo: relatar as manifestações bucais dos portadores de Epidermólise Bolhosa residentes no município de Barra da Estiva. Metodologia: trata-se de um estudo transversal, quantitativo e descritivo que foi desenvolvido no município de Barra da Estiva ­ BA com a população de portadores de Epidermólise Bolhosa, através da realização de anamnese e exame clínico. Estatística descritiva foi utilizada para tabular os dados coletados. Resultados: foram analisados 5 portadores de Epidermólise Bolhosa, a maioria do sexo masculino (60%), com média de idade de 5,6 anos. As manifestações bucais encontradas foram bolhas orais (100%), anquiloglossia (100%), língua despapilada (100%), hipoplasia de esmalte (80%), cárie (40%) e abertura de boca limitada em média de 28,6 mm. Conclusão: os portadores de Epidermólise Bolhosa apresentaram manifestações orais características da doença, tendo como consequências maiores dificuldades para realizar higienização bucal e tratamento odontológico, sendo necessário conhecimento prévio dos cirurgiões-dentistas para o atendimento desses pacientes.

Introduction: inherited Epidermolysis Bullosa (EB) is a rare disease, characterized by blistering of the skin and mucous membranes that suffer minimal trauma or appear spontaneously. The main divisions of EB are Simple Epidermolysis Bullosa, Junctional Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa and Kindler Syndrome. The oral manifestations usually found in patients with EB are blisters in the oral epithelium, microstomy, ankyloglossia, periodontal disease, enamel hypoplasia, dental caries, atrophy of the jaw and mandibular prognathism, varying for each type of disease. Objective: to report the oral manifestations of Epidermolysis Bullosa patients living in the municipality of Barra da Estiva. Methods: cross-sectional study, quantitative and descriptive that was developed in the municipality of Barra da Estiva-BA with the population of people with Epidermolysis Bullosa, through anamnesis and clinical examination. Descriptive statistics was used to tabulate the data collected. Results: 5 children with Epidermolysis Bullosa were analyzed, most male (60%), with an average age of 5,6 years. Oral manifestations found were oral blisters (100%), anquiloglossia (100%), loss of papillae of the tongue (100%), enamel hypoplasia (80%), tooth decay (40%) and mouth opening limited to the average of 28.6 mm. Conclusion: epidermolysis Bullosa children presented oral manifestations common to the disease, leading to difficulties in performing oral hygiene and dental treatment, requiring prior knowledge of dental surgeons for the care of these patients.

Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations. A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations. Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma. Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Displasia septoóptica: alteraciones oftalmológicas en una serie de 5 casos / Septo-optic dysplasia: ophthalmological abnormalities in a series of 5 cases

La displasia septoóptica (DSO) es una entidad congénita, rara, de causa desconocida, con una tríada característica que incluye hipoplasia de nervio óptico, anomalías en la función hipofisaria y defectos en la línea media cerebral, además de un amplio espectro de manifestaciones y asociaciones.Se presenta una serie de cinco casos clínicos, de los cuales cuatro presentaron la tríada clásica completa. Todos mostraron gran variedad de alteraciones oftalmológicas, endocrinológicas y neurológicas.Dentro del espectro oftalmológico de la DSO, destacan la hipoplasia papilar y las alteraciones de la motilidad ocular (nistagmos estrabismo). También pueden aparecer otras menos frecuentes, como son alteraciones pupilares, microftalmia y coloboma.Ante la sospecha de DSO, conviene realizar una resonancia magnética cerebral y una interconsulta con el servicio de pediatría para completar el estudio e indicar, si fuera preciso, tratamiento sistémico.

Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations.A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations.Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma.Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.

Anoniquia Congénita Asociada a Herencia Autosómica Dominante, Síndrome de Cooks

Resumen El síndrome de Cook fue descrito por primera vez por Cook y colaboradores en 1985. Este se caracteriza por una historia familiar de hipoplasia congénita de las uñas de las manos en los dígitos 1,2 y 3, ausencia de las uñas en los dígitos 4 y 5, braquidactilia del digito 5 de las manos y ausencia complete de las uñas de los pies. Además, puede existir una hipoplasia o ausencia de las falanges distales en los pies y las manos. La oficina de enfermedades raras del Instituto Nacional de Salud, considera este síndrome como una "enfermedad rara". Presentamos el caso de un recién nacido con anoniquia congénita en ambas manos y pies en el digito 2 asociado a hipoplasia ungueal en dígitos 1 y 3 respetando dígitos 4 y 5. La radiografía de los dedos no muestra anormalidades en las falanges. Este caso podría representar una variante del síndrome de Cook o una nueva enfermedad aun no descrita debido a la existencia de una historia familiar importante con similares deformidades en la madre, la abuela y la hermana.

Abstract Cooks syndrome, which was first reported by Cooks et al in 1985. It is characterized by family history of bilateral congenital nail hypoplasia of digits 1,2 and 3, with absence of nails in digits 4, 5, and brachydactyly of digit five of the hands and complete absence of all toenails. In addition, there is hypoplasia or absence of distal phalanges of the hands and feet. According to the Office of rare Diseases of the National Institutes of Health, this syndrome is considered as a "rare disease". We present a newborn child with a history of congenital anonychia in digit 2 in both hands and feet and nail hypoplasia in digits 1 and 3 sparing digits 4 and 5. Radiography of the fingers shows no abnormalities in the phalanges. This case could represent a variant of Cooks syndrome or a new disease not yet described because of the existence of an important family history with similar deformities in the mother, grandmother and sister.

Discrepancia negativa transversal del maxilar y diferencias cefalométricas laterales según el ancho de la arcada superior / Negative maxillary transverse discrepancy and cephalometric lateral differences according to the width of upper arch

Introduction: Negative maxillary transverse discrepancy is not exclusive to narrow upper arch. The transverse discrepancy due to maxillary deficiency is well described, but this is not the case when the maxilla displays adequate dimensions and the origin of the problem is an excess of mandibular width. Objective: To describe the cephalometric characteristics of negative maxillary transverse discrepancy present in narrow upper arches with those of normal or increased width. Methods: An observational and cross-sectional study was carried out in records of patients with negative maxillary transverse discrepancy. The cases referred to the maxillofacial surgery department at Hospital Clínico Quirúrgico "Hermanos Ameijeiras" between January 2016 and January 2020 were selected. The initial study models were measured and two groups were formed: those with a distance between central fossae of 16 to 26, less than 47 mm and the other with equal or greater values. Lateral cephalometric analysis of Ricketts, McNamara, Björk & Jarabak, Burstone and soft profile were performed on the initial teleradiographs. Using the Mann Whitney U test of independent samples, measurements with statistically significant differences between both groups were selected. (p <0.05). Results: Significant differences were found regarding the cranial-mandibular relationship, mandibular anatomy, maxillo-mandibular relationship and occlusal relationship. The most important differences observed in each group were respectively: S-Ar / Ar-Go ratio (p = 0.033), mandibular body length (p = 0.01), mandibular-maxillary difference (p = 0.003) and overjet (p = 0.043). Conclusions: In the studied patients, negative maxillary transverse discrepancy has the same probability of presenting a wide or in norm upper arch, as well as a narrow arch. In the first case, it is more likely to find jaws with increased body length, a skeletal class III pattern and a concave profile; in the second case, the tendency is to present small jaws with increased articular angle and dental overjet(AU)

Introducción: La discrepancia negativa transversal del maxilar no es exclusiva de una arcada superior angosta. La discrepancia transversal por deficiencia maxilar está bien descrita, pero no ocurre así cuando el maxilar se presenta con dimensiones adecuadas y el origen del problema es un exceso del ancho mandibular. Objetivo: Describir las diferencias cefalométricas de la discrepancia negativa transversal del maxilar que presentan arcadas superiores estrechas con aquellas de ancho normal o incrementado. Métodos: Se realizó un estudio observacional, de corte transversal, en expedientes de pacientes con discrepancia negativa transversal del maxilar. Se seleccionaron los casos que acudieron entre enero del 2016 y enero del 2020 a la consulta de cirugía maxilofacial del Hospital Clínico Quirúrgico "Hermanos Ameijeiras". Se midieron los modelos de estudio iniciales y se conformaron dos grupos: aquellos con distancia entre fosas centrales de 16-26, menor de 47 mm y el otro con valores iguales o superiores. Se realizaron análisis cefalométricos laterales en las telerradiografías iniciales de Ricketts, McNamara, Björk & Jarabak, Burstone y perfil blando. Por medio de la prueba U de Mann Whitney de muestras independientes, se seleccionaron las mediciones con diferencias estadísticas significativas entre ambos grupos (p < 0.05). Resultados: Se encontraron diferencias significativas concernientes a la relación cráneo mandibular, anatomía mandibular, relación máxilo mandibular y relación oclusal. Las diferencias observadas más importantes de cada grupo fueron respectivamente: relación S-Ar/Ar-Go (p = 0,033), longitud del cuerpo mandibular (p = 0,01), diferencia mandibular-maxilar (p = 0,003) y resalte (p = 0,043). Conclusiones: En los pacientes estudiados, las discrepancias negativas transversales tienen la misma probabilidad de presentarse con la arcada superior ancha o en norma, que angosta. En los primeros es más probable encontrar mandíbulas con longitud del cuerpo incrementada, patrón de clase III esquelética y perfil cóncavo; en los segundos, la tendencia es a presentar mandíbulas pequeñas con ángulo articular y resalte dentario aumentados(AU)

Osteotomía Le Fort III modificada en un paciente no sindrómico / Modified Le Fort III osteotomy in a non-syndromic patient

Las discrepancias dento-esqueletales severas presentan un reto para el cirujano maxilofacial, existe una versatilidad de osteotomías para las diferentes anomalías del crecimiento y desarrollo, sin embargo, son pocas las que permiten mejorar la proyección malar. La osteotomía Le Fort III modificada fue utilizada en un principio en pacientes con algún síndrome craneofacial, pero actualmente es una alternativa útil para discrepancias severas en pacientes no sindrómicos, ya que permite un avance cigomático-maxilar, favorece la proyección malar y disminuye la exposición escleral con un número limitado de complicaciones. Se presenta el caso de un paciente masculino de 33 años con antecedente de fractura orbitocigomática y piso orbitario izquierda con una discrepancia dento-esqueletal severa, la que fue tratada mediante osteotomía Le Fort III modificada, osteotomías sagitales mandibulares para un avance máxilo-malar y retroceso mandibular respectivamente y una genioplastia de avance; logrando un resultado funcional y estético adecuado.

The dento-skeletal severe discrepancies present a challenge for the maxillofacial surgeon, there is a versatility of osteotomies for the different growth and development anomalies, however, a few of them make possible to improve malar projection. The modified Le Fort III osteotomy was originally used in patients with some craniofacial syndrome, but now it is a useful alternative for severe discrepancies in non-syndromic patients, since it allows a zygomatic-maxillary advance, favors malar projection and reduces scleral exposure with a limited number of complications. The case of a 33-year-old male patient with a history of orbitozygomatic fracture and left orbital floor with a severe dento-skeletal discrepancy is presented, who was treated by modified Le Fort III osteotomy, mandibular sagittal osteotomies for maxillo-malar advancement and retrogression mandibular respectively and geniplasty for advance; achieving a suitable functional and aesthetic result.

Macular involvement in congenital aniridia.

This review updates the knowledge about the morphological assessment of the foveal hypoplasia in congenital aniridia and resumes the reported genotype-phenotype correlations known to date. Congenital aniridia is a pan ocular disease. Although iris absence is considered the hallmark of this entity, foveal hypoplasia is present in 94.7%-84% of patients. A foveal morphology assessed by optical coherence tomography in which external retina structures can be identified, with presence of the lengthening of photoreceptors outer segment and a greater external retinal thickness, is associated with a better visual outcome, regardless a foveal pit is identified or not. This analysis can be performed once the external retina has completed its differentiation, by 6 years old. PAX6 mutations that introduce premature termination codon, C terminal extension or PAX6 involving deletions have been related to lesser foveal differentiation. Better foveal differentiation has been associated to non-coding PAX6 mutations.

Hipoplasia de cóndilo occipital: hallazgo en telerradiografía de perfil / Unilateral hypoplastic occipital condyle: anincidental finding on a cephalometric lateral radiograph

Introducción: Los cóndilos occipitales y procesos articulares superiores de atlas conforman la articulación atlanto-occipital, la que contribuye en la flexión y extensión de cabeza y cuello. La hipoplasia de cóndilo occipital (HCO) esuna anomalía del desarrollo poco frecuente, pudiendo presentarse aislada o como parte de un síndrome. Si bien el diagnóstico y manejo de una HCO corresponde al área médica, es posible que en ciertos casos esta anomalía pueda ser advertida por el odontólogo. Caso: Paciente sexo femenino, 23 años, asintomática, acude a realizarse una telerradiografía de perfil, previo a tratamiento de ortodoncia. En dicha radiografía se observóuna desproyecciónen sentido vertical del arco posterior de atlas. El informe radiográfico incluyó un diagnóstico presuntivo de HCO. Posteriormente se complementó con un examen de tomografía computarizada de haz cónico (TCHC), que confirmó el diagnóstico de HCO derecho. Conclusión: La HCO puede observarse en una telerradiografía de perfil, y su diagnóstico puede realizarlo un radiólogo maxilofacial. La confirmación del diagnóstico debe realizarse con imágenes de TCHC para analizar las estructuras óseas, y con resonancia magnética para analizar los tejidos blandos circundantes (AU)

Introduction: Occipital condyles and articular processes of atlas vertebrae form the atlanto-occipital joint. This joint contributes to flexion and extension of head and neck. Hypoplasia of the occipital condyle (HCO) is an unusual developmental anomaly, being shown isolated or as a part of a syndrome. While diagnosis and clinical management of HCO corresponds to the medical area, some cases of HCO may be adverted by a dentist. Case: Female patient, 23 years old, asymptomatic, come to be undergone to a lateral cephalometric radiograph prior to an orthodontic treatment. In this image the posterior arch of the atlas was observed as not superimposed. In the radiographic report the presumptive diagnosis included HCO. This radiographic examination was complemented with a cone-beam computed tomography examination (CBCT), which confirmed the diagnosis of HCO. Conclusion: HCO can be seen on a lateral cephalometric radiograph, and the diagnosis can be performed by a maxillofacial radiologist. Confirmation of diagnosis should be done with CBCT images to analyze bone structures, and with magnetic resonance imaging to analyze surrounding soft tissues. (AU)

Etiología asociada a los defectos del esmalte dentario en los niños de 3 a 11 años / Etiology associated with tooth enamel defects in 3-11-year-old children

Introducción:Los defectos del esmalte dentario aparecen en edades tempranas, su etiología se atribuye a múltiples condiciones que actúan en las diferentes etapas de la vida del niño. Objetivo:Describir las condiciones etiológicas, en los defectos del esmalte dentario, en la población de 3 a 11 años. Métodos:Se realizó un estudio observacional, descriptivo, transversal, de septiembre de 2016 a junio de 2019. El universo de estudio lo integraron 2 197 niños, de 3 a 11 años, del municipio Habana del Este, con dentición temporal o permanente, con afectación o no de los dientes con algún defecto del esmalte; se les realizó un examen clínico bucal y para la asociación etiológica se aplicó un cuestionario a las madres. Los resultados se analizaron mediante la estadística descriptiva. Resultados:La prevalencia de anomalías del esmalte fue 21.98 por ciento, predominó el grupo de 6 a 11 años, 11.42 por cient. La edad materna de 21 a 25 años, 25.47 por cienty la lactancia materna de 5 a 7 meses, 32.30 por cient, aportaron mayor cantidad de defectos. Las condiciones etiológicas fueron la alergia 40.17 por cient y la ingestión de medicamentos 52.17 por cient. Conclusiones:Los defectos del esmalte se encuentran en menos de la cuarta parte de la población. Las madres adultas jóvenes y las que lactan entre los cinco y siete meses, aportan las mayores cifras. Dentro de las condiciones etiológicas más representadas están la ingestión de fármacos y las alergias.(AU)

Defects of dental enamel development appear at an early age; their etiology is attributed to multiple conditions that act in the different stages of the child's life. Objective:To describe the etiological conditions associated with tooth enamel defects in the 3-11-year-old population of the La Habana del Este municipality. Methods:An observational, descriptive, cross-sectional study was carried out in the period September 2016 to June 2019. The universe was made up of 2 197 children, 3-11 years of age from the municipality of Habana del Este, with temporary or permanent dentition, with or without tooth involvement with some kind of enamel defect; Each child underwent a clinical examination of the oral complex and for the etiological association a questionnaire was applied to the mothers. The results were analyzed using descriptive statistics and as a summary measure the number and percentage, represented in tables. Results:The prevalence of enamel anomalies was 21.98 per cent, with a predominance of the 6-11-year-old group (11.42 per cent). Maternal age 21-25 years (25.47 per cent) and breastfeeding 5-7 months (32.30 per cent) contributed the greatest number of defects. The associated etiological conditions were allergy (40.17 per cent) and drug ingestion (52.17 per cent). Conclusions:Enamel development defects were found in less than a quarter of the studied population. Young adult mothers and those who breastfed between five and seven months contributed the highest figures. Drug ingestion and allergies were found among the most represented associated etiological conditions.(AU)