ABSTRACT
Introducción. La duplicación del colédoco es una anomalía congénita poco frecuente. En la mayoría de los casos este defecto se asocia a cálculos en la vía biliar, unión pancreatobiliar anómala, pancreatitis, cáncer gástrico o colangiocarcinoma. Por esta razón, el diagnóstico y el tratamiento temprano son importantes para evitar las complicaciones descritas a futuro. Métodos. Se presenta el caso de una paciente de 30 años, con antecedente de pancreatitis aguda, con cuadro de dolor abdominal crónico, a quien se le realizaron varios estudios imagenológicos sin claro diagnóstico. Fue llevada a manejo quirúrgico en donde se documentó duplicación del colédoco tipo II con unión pancreatobiliar anómala. Resultados. Se hizo reconstrucción de las vías biliares y hepatico-yeyunostomía, con adecuada evolución postoperatoria y reporte final de patología sin evidencia de tumor. Conclusión. El diagnóstico se hace mediante ecografía endoscópica biliopancreática, colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El tratamiento depende de si está asociado o no a la presencia de unión biliopancreática anómala o cáncer. Si el paciente no presenta patología neoplásica, el tratamiento quirúrgico recomendado es la resección del conducto con reconstrucción de las vías biliares.
Introduction. Double common bile duct is an extremely rare congenital anomaly. This anomaly may be associated with bile duct stones, anomalous biliopancreatic junction, pancreatitis, bile duct cancer, or gastric cancers. Thus, early diagnosis and treatment is important to avoid complications. Clinical case. We report a rare case of double common bile duct associated with an anomalous biliopancreatic junction in a 30-year-old female, with prior history of acute pancreatitis, who presented with chronic abdominal pain. She underwent several imaging studies, without clear diagnosis. She was taken to surgical management where duplication of the type II common bile duct was documented with anomalous pancreatobiliary junction. Results. Reconstruction of the bile ducts and hepatico-jejunostomy were performed, with adequate postoperative evolution and final pathology report without evidence of tumor. Conclusion. Diagnosis is usually performed by an endoscopic ultrasound, magnetic resonance cholangiopancrea-tography, or endoscopic retrograde cholangiopancreatography. Treatment depends on the presence of anomalus biliopancreatic junction or concomitant cancer. In cases without associated malignancy, resection of bile duct and biliary reconstruction is the recommended surgical treatment.
Subject(s)
Humans , Congenital Abnormalities , Anastomosis, Roux-en-Y , Common Bile Duct Diseases , Cholangiography , Cholangiopancreatography, Endoscopic Retrograde , Common Bile DuctABSTRACT
Introducción. Las malformaciones linfáticas quísticas, también llamadas linfangiomas quísticos, aparecen muy raramente de forma aislada en el hígado. Casos clínicos. Se presentan dos pacientes femeninas de edad preescolar con marcada hepatomegalia, dependiente de lesiones quísticas multitabicadas, secundarias a malformación linfática quística gigante del hígado, que fueron tratadas en el Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Resultados. En ambos casos el diagnóstico se apoyó en los estudios de imágenes, la laparoscopia y el análisis histopatológico. En un caso el tratamiento fue la hepatectomía derecha, mientras que en el otro se empleó la escleroterapia, ambas con evolución favorable. Conclusión. A pesar de su rareza, este diagnóstico no debe obviarse ante un paciente pediátrico con lesiones hepáticas quísticas. El tratamiento de elección es la resección quirúrgica, pero su indicación y envergadura debe valorarse de forma individualizada
Introduction. Cystic lymphatic malformations, also called cystic lymphangiomas, are very rarely found in the liver. Clinical cases. Two pediatric female preschool-age patients. presented with hepatomegaly due to multi-septated cystic lesions of the liver, who received treatment at Hospital Pediátrico Universitario William Soler, La Habana, Cuba. Results. We report two pediatric cases with giant cystic lymphatic malformation of the liver. In both cases, the diagnosis were based on imaging, laparoscopy and pathology. In one case the treatment was right hepatectomy, whereas in the other, sclerotherapy was performed, both with a favorable outcome. Conclusion. Despite its rarity, this diagnosis should be considered in pediatric patients with hepatic cystic lesions. The recommended treatment is surgical resection, but its indication and extent should be assessed individually for each patient.
Subject(s)
Humans , Sclerotherapy , Lymphangioma, Cystic , Lymphatic Abnormalities , Laparoscopy , Hepatectomy , HepatomegalyABSTRACT
Introducción: el dacriocistocele es una malformación congénita rara, secundaria a la obstrucción del conducto nasolagrimal; tiene una incidencia de 0,1 % de pacientes con obstrucción congénita del conducto nasolagrimal y se encuentra bilateralmente hasta en 25 % de casos. Caso clínico: lactante femenina de dos meses con celulitis periorbitaria derecha preseptal no asociada con lesión de entrada y diagnóstico inicial de dacriocistitis derecha. Al examen físico de ingreso, en el ojo derecho se evidencia gran masa abscedada en saco lagrimal; en el ojo izquierdo, un área indurada y leve reflujo a la presión del saco lagrimal. Se realiza tomografía computarizada de órbitas con hallazgos compatibles con dacriocistocele bilateral. Discusión y conclusiones: conocer la presentación y posibles complicaciones asociadas con esta patología previene una morbilidad importante al paciente. La mayoría de los casos de dacriocistocele se pueden manejar médicamente, sin embargo, aquellos asociados con complicaciones requieren de manejo quirúrgico oportuno.
Introduction: Dacryocystocele is a rare congenital malformation secondary to na-solacrimal duct obstruction. It has an incidence of 0.1% of patients with congenital nasolacrimal duct obstruction, being found bilaterally in up to 25% of cases. Case Report: Two-month-old female infant with preseptal right periorbital cellulitis not associated with an entrance lesion, with an initial diagnosis of right dacryocystitis. On physical examination, a large abscessed mass in the lacrimal sac was eviden-ced in the right eye; in the left eye, there was an indurated area and slight reflux to the lacrimal sac pressure. Computed tomography of the orbits was performed with findings compatible with bilateral dacryocystocele. Discussion and conclusions: Knowing the presentation and possible complications associated with this pathology prevents significant patient morbidity. Most cases of dacryocystocele can be mana-ged medically, however, cases associated with complications require timely surgical management.
Subject(s)
Humans , Male , FemaleABSTRACT
ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.
RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.
ABSTRACT
ABSTRACT It is estimated that lymphatic malformations in children account for 6% of all benign vascular malformations. New medical therapies have been developed for the management of lymphatic orbital disease. The purpose of this article was to describe a clinical case of orbital venolymphatic malformation in a 10-year-old boy, causing proptosis and palpebral edema. The lesion was initially treated with local sclerotherapy. However, the lesion relapsed, and was successfully treated with oral sirolimus. Prospective studies are warranted to determine the appropriate dose and extend the indications of sirolimus in these patients.
RESUMO A incidência de malformações linfáticas em crianças é estimada em 6% de todas as malformações vasculares benignas. Têm sido desenvolvidos novos tratamento para doenças linfáticas orbitárias. Nosso objetivo é descrever um caso clínico de malformação venolinfática orbitária em um menino de 10 anos de idade, causando proptose e edema palpebral. A lesão foi tratada inicialmente com escleroterapia local. No entanto, a lesão teve recidiva e foi tratada com sucesso com sirolimo oral. Ainda são necessários estudos prospectivos para estabelecer a dose apropriada e a duração do tratamento com sirolimo nesses pacientes.
ABSTRACT
ABSTRACT Purpose: To assess the anterior and posterior segments of full-term neonates over a 1.5-year period. Methods: The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded. Results: The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37). Conclusion: The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.
RESUMO Objetivo: Avaliar os segmentos anterior e posterior em recém-nascidos a termo durante um período de 1,5 anos. Métodos: Foram analisados recém-nascidos a termo que tiveram os olhos examinados entre junho de 2019 e dezembro de 2020, e os resultados foram registrados retrospectivamente. Resultados: O estudo foi composto por 2.972 recém-nascidos com média de uma semana de nascimento de 38,7 ± 1,2 semanas e um peso médio ao nascer de 3235 ± 464 g. Os recém-nascidos foram examinados em média pós-natal de 49,3 ± 18,9 dias. Dos recém-nascidos, 185 (6,2%) apresentaram resultados oculares anormais. Os achados oculares anormais mais prevalentes foram hemorragia da retina em 2,3% (n=68) e alterações brancas na retina periférica em 1,9% (n=55) dos recém-nascidos. Casos de patologias de disco óptico (n=20), nevo de coroide (n=10), coloboma iris-coroide (n=5), hemorragia subconjuntival (n=6), alteração pigmentar da retina não específica (n=4), catarata congênita (n=3), Sinequia posterior (n=3), nevo da íris (n=3), opacidade da córnea (n=1), coloboma de coroide (n=1), coloboma de íris (n=1), buftalmos (n=1), anoftalmia (n=1), microftalmia (n=1), hemangioma de pálpebra (n=1) e hemorragia vítrea (n=1) contabilizaram coletivamente cerca de 2% dos recém-nascidos. As patologias que potencialmente prejudicam a visão, detectadas por exame ocular, representaram 1,2% dos recém-nascidos (n=37). Conclusão: O achado mais prevalente de exames oculares de recém-nascidos neste estudo foi hemorragia da retina. Exames oftalmológicos em recém-nascidos podem ser úteis na identificação de doenças que podem impactar a visão deles, podendo ser curáveis ou levar à ambliopia no longo prazo.
ABSTRACT
ABSTRACT Purpose: Recently, hyaluronic acid (HA) was proposed as a promising option for the treatment of acquired lower eyelid cicatricial ectropion. However, this effect was not confirmed by quantitative assessments. This study aimed to assess the effect of hyaluronic acid on the treatment of acquired lower eyelid cicatricial ectropion. Methods: Eight patients with acquired lower eyelid cicatricial ectropion (13 eyelids) were treated with a single 1 mL injection of hyaluronic acid in the preseptal area of the lower eyelid. Evaluation of symptoms and biomicroscopic exam was performed before and 30 days after hyaluronic acid injection. Quantitative analysis of the lower eyelid position (with and without lid traction) was determined before and 30 days after hyaluronic acid injection through standard photographs analyzed using the ImageJ. Results: All patients experienced partial improvement of symptoms. The lower eyelid position was significantly lifted after hyaluronic acid injection with a significant reduction of medial and lateral angles, reduction of the margin reflex distance, and total and medial ocular fissure area. However, signs of lid margin inflammation and corneal punctate keratitis persisted. Conclusions: Hyaluronic acid injected in the pre-septal area of the lower eyelid improved acquired lower eyelid cicatricial ectropion symptoms and significantly lifted the position of the lower eyelid. Further studies, with a large number of participants and a long-term follow-up period, are needed to better determine the permanency of the effects of hyaluronic acid injections on the treatment of acquired lower eyelid cicatricial ectropion.
RESUMO Objetivo: Recentemente, o ácido hialurônico foi proposto como promissor no tratamento do ectrópio cicatricial adquirido da pálpebra inferior. No entanto, não foram feitas avaliações quantitativas para confirmar este efeito, motivo que levou a realização do presente estudo que visou avaliar o efeito do ácido hialurônico no tratamento do ectrópio cicatricial adquirido da pálpebra inferior. Métodos: Oito portadores de ectrópio cicatricial adquirido da pálpebra inferior (13 pálpebras) foram tratados com uma única dose de 1 mL de ácido hialurônico, injetada na área pré-septal da pálpebra inferior. Os sintomas e o exame biomicroscópico foram realizados antes e 30 dias após a injeção do ácido hialurônico. A análise quantitativa da posição palpebral inferior (com e sem tração palpebral) foi determinada antes e 30 dias após a injeção do ácido hialurônico por meio de fotografias que foram analisadas usando o programa ImageJ. Resultados: Todos os pacientes apresentaram melhora parcial dos sintomas. A posição da pálpebra inferior foi elevada significativamente após a injeção do ácido hialurônico, com redução significativa dos ângulos medial e lateral, da distância entre o reflexo pupilar e a margem da pálpebra inferior, da área de fissura palpebral total e da área medial. No entanto, sinais de inflamação da margem palpebral e ceratite puntata da córnea persistiram. Conclusões: O ácido hialurônico injetado na área pré-septal da pálpebra inferior, melhorou os sintomas do ectrópio cicatricial adquirido da pálpebra inferior e elevou significativamente a posição da pálpebra inferior. Estudos com maior número de participantes e período de acompanhamento mais longo são necessários para melhor determinar os efeitos das injeções de ácido hialurônico a longo prazo no tratamento do ectrópio cicatricial adquirido da pálpebra inferior.
ABSTRACT
Introdução: A cirurgia ortognática envolve manipulação da arquitetura óssea facial, através de osteotomias, para restaurar a forma e a função, corrigindo a má oclusão, as desproporções maxilomandibulares e assimetrias faciais. O planejamento virtual em cirurgia ortognática é realizado com ajuda de softwares que utilizam as medidas reais do esqueleto craniofacial e registros da oclusão do paciente, através de uma análise 3D. Método: Foram avaliados 18 pacientes com deformidades dentofaciais, de acordo com a classificação de Angle submetidos a cirurgia ortognática com o uso do planejamento virtual, entre 2018 e 2019. Os critérios de inclusão foram pacientes entre 16 e 60 anos com desproporções maxilo-mandibulares nas quais o tratamento ortodôntico isolado não era suficiente. Os critérios de exclusão foram a presença de lesões císticas ou tumorais nos maxilares e comorbidades clínicas que contraindicavam a cirurgia. O planejamento virtual foi realizado em todos os pacientes, utilizando o software Dolphin® Imaging 11 e os guias cirúrgicos confeccionados em impressora 3D. Resultados: O guia cirúrgico intermediário apresentou adaptação perfeita nas faces oclusais promovendo grande estabilidade para o reposicionamento e fixação da maxila na oclusão intermediária. Os 18 pacientes operados responderam como "totalmente satisfeitos" em relação ao resultado estético-funcional nessa série estudada. Foi encontrada uma semelhança muito grande da posição do esqueleto maxilofacial no planejamento virtual préoperatório e o obtido no pós-operatório, através da avaliação das telerradiografias. Conclusão: O planejamento virtual em cirurgia craniomaxilofacial possui inúmeras vantagens, como diminuição do tempo laboratorial pré-operatório, maior precisão na confecção dos guias cirúrgicos e melhor reprodutibilidade dos resultados simulados.
Introduction: Orthognathic surgery involves the manipulation of facial bone architecture through osteotomies to restore form and function, correcting malocclusion, maxillomandibular disproportions, and facial asymmetries. Virtual planning in orthognathic surgery is carried out with the help of software that uses real measurements of the craniofacial skeleton and records of the patient's occlusion through 3D analysis. Method: 18 patients with dentofacial deformities were evaluated, according to Angle's classification, who underwent orthognathic surgery using virtual planning between 2018 and 2019. The inclusion criteria were patients between 16 and 60 years old with maxylo-mandibular disproportions in which orthodontic treatment alone was not sufficient. Exclusion criteria were the presence of cystic or tumoral lesions in the jaw and clinical comorbidities that contraindicated surgery. Virtual planning was carried out on all patients, using Dolphin® Imaging 11 software and surgical guides made with a 3D printer. Results: The intermediate surgical guide presented perfect adaptation on the occlusal surfaces, promoting great stability for the repositioning and fixation of the maxilla in intermediate occlusion. The 18 operated patients responded as "completely satisfied" in relation to the aesthetic-functional result in this series studied. A very great similarity was found between the position of the maxillofacial skeleton in the preoperative virtual planning and that obtained post-operatively through the evaluation of teleradiography. Conclusion: Virtual planning in craniomaxillofacial surgery has numerous advantages, such as reduced pre-operative laboratory time, greater precision in the creation of surgical guides, and better reproducibility of simulated results.
ABSTRACT
La anencefalia es una anomalía gestacional que produce la ausencia de gran parte del cerebro y del cráneo; aunque se desconoce el motivo principal de su aparición, puede estar relacionado con toxinas ambientales, y pobre ingesta de ácido fólico durante el embarazo. Los fetos que padecen de esta malformación, en su mayoría, no llegan a nacer vivos o mueren a las pocas horas. Se presentó una paciente recibida en emergencia en el Centro de Atención Integral Materno Infantil, municipio Ixchiguan, departamento de San Marcos, Guatemala con embarazo a término, según refirió la paciente, sin atención prenatal, dolor en hipogastrio y pérdida de líquido amniótico de un día de evolución. Siendo este un defecto genético multifactorial, para el cual no existe tratamiento, el único recurso para su prevención fue brindar una atención prenatal pormenorizada con énfasis especial en el programa de genética para la detección precoz de anomalías congénitas.
Anencephaly is a gestational anomaly that produces the absence of a large part of the brain and skull; although the main reason for its appearance is unknown, it may be related to environmental toxins and poor intake of folic acid during pregnancy. Most of the fetuses that suffer from this malformation are not born alive or die within a few hours. We present a female patient who was received in the emergency service of the Comprehensive Maternal and Child Care Center in Ixchiguan municipality, San Marcos department, Guatemala, with a full-term pregnancy, as reported by the patient, without prenatal care, hypogastric pain and loss of amniotic fluid of one day of evolution. Since there is no treatment for this multifactorial genetic defect, the only resource for its prevention was to provide detailed prenatal care with special emphasis on the genetics program for the early detection of congenital anomalies.
Subject(s)
Congenital Abnormalities , Central Nervous System , AnencephalyABSTRACT
Introducción: En Cuba, los defectos congénitos constituyen la segunda causa de muerte en niños menores de un año, por lo cual ocupan un lugar prioritario en los programas médicos sociales del país. Objetivo: Evaluar el comportamiento epidemiológico del diagnóstico prenatal de los defectos congénitos en Holguín, Cuba. Métodos: Se realizó un estudio descriptivo y transversal de la epidemiología de los defectos congénitos en la provincia de Holguín, Cuba, en el periodo de enero 2011- junio de 2020. Resultados: Los años con mayor número de defectos congénitos diagnosticados fueron: 2011, 2012, 2017 y 2018 con 308, 253, 290 y 236 pacientes, respectivamente. Los defectos congénitos más frecuentes fueron: cardiovasculares (comunicación interventricular, canal auriculoventricular, transposición de grandes vasos e hipoplasia de cavidades), renales (pielocaliectasia, hidronefrosis, riñones poliquísticos), y del sistema nervioso central (ventriculomegalia, hidrocefalia). El grupo de edad materna donde se realizó mayor número de diagnósticos fue entre 20-24 años, la mayoría en el segundo trimestre de la gestación; en el primer trimestre, el mayor número de defectos congénitos correspondió a los defectos de pared anterior. La tasa de mortalidad infantil por defectos congénitos se mantuvo estable en la mayoría de los años estudiados. Conclusiones: La estabilidad y perfeccionamiento del programa de diagnóstico prenatal de los defectos congénitos, y el asesoramiento genético adecuado, han tenido un resultado epidemiológico favorable en la provincia.
Introduction: congenital defects in Cuba are the second cause of death in children under one year of age that is why they occupy a priority place in the social medical programs of the country. Objective: to evaluate the epidemiological manifestation of the prenatal diagnosis of congenital defects in Holguín, Cuba. Methods: a descriptive and cross-sectional study of the epidemiology of birth defects was carried out in Holguín province, Cuba from January 2011 to June 2020. Results: the years with the highest number of diagnosed birth defects were 2011, 2012, 2017 and 2018 with 308, 253, 290 and 236 patients, respectively. The most frequent birth defects were cardiovascular (ventricular septal defect, atrioventricular canal, transposition of the great vessels and hypoplasia of cavities), renal (pyelokaliectasia, hydronephrosis and polycystic kidneys), and central nervous system (ventriculomegaly and hydrocephalus). The maternal age group in which the highest number of diagnoses was made was between 20-24 years, mostly in the second trimester of pregnancy; the largest number of congenital defects in the first trimester corresponded to anterior wall defects. The infant mortality rate due to congenital defects remained stable in most of the years studied. Conclusions: the stability and improvement of the prenatal diagnosis program for congenital defects, as well as an adequate genetic counseling, have had a favourable epidemiological result in the province.
Subject(s)
Congenital Abnormalities , Prenatal Diagnosis , Heart Septal DefectsABSTRACT
Intestinal nonrotation is a rare embryonic developmental anomaly with a reported incidence of up to 0.5% in autopsies. Given the asymptomatic course, the diagnosis may be late, so it becomes an incidental finding. This study presents the most common imaging characteristics to familiarize readers with this pathology. We describe the case of a 73-year-old patient who consulted for pain in the right inguinal region associated with the sensation of a mass. There were no significant findings on physical examination. An abdominal tomography with contrast was requested as a study method, identifying a reversal of the superior mesenteric artery/superior mesenteric vein relationship with the cecum, appendix, and ileocecal valve in the left flank and mesogastrium. A displacement of thin intestinal loops towards the right hemiabdomen was also noted.
La no rotación intestinal es una anomalía del desarrollo embrionario poco frecuente con una incidencia reportada de hasta el 0,5 % en autopsias. El diagnóstico puede ser tardío dado el curso asintomático, por lo que se convierte en un hallazgo incidental. El objetivo de este estudio es dar a conocer las características por imagen más comunes para familiarizar a los lectores con esta patología. Se presenta el caso de un paciente de 73 años que consultó por dolor en la región inguinal derecha asociado a sensación de masa. En el examen físico no hubo hallazgos significativos. Se solicitó una tomografía abdominal con contraste como método de estudio y se identificó una inversión de la relación entre la arteria y vena mesentérica superior con la presencia de ciego, apéndice y válvula ileocecal en el flanco izquierdo y mesogastrio. Adicionalmente, se observó un desplazamiento de asas intestinales delgadas hacia el hemiabdomen derecho.
ABSTRACT
Resumen Introducción: El origen aórtico anómalo de las arterias coronarias tiene una prevalencia estimada del 0.02-5.7% y están potencialmente involucradas con complicaciones en su evolución natural o aquellos que requieran procedimientos intervencionistas hemodinámico y/o quirúrgicos. Puede asociarse a muerte súbita o dañarse durante intervenciones sobre el anillo mitral, aórtico, pulmonar o el cierre percutáneo de un defecto septal interauricular. Objetivo: identificar estos pacientes por diferentes técnicas de imágenes como el ecocardiograma Doppler color transtorácico (ETT), angiotomografía o angiografía coronaria. Métodos: Las técnicas de imágenes utilizadas para la detección de anomalías coronarias fueron el ETT, angiotomografía coronaria multicorte o angiografía coronaria convencional de acuerdo con lo universalmente aceptado. Resultados: Estudio prospectivo realizado desde enero del 2020 a junio del 2021. Se identificaron 15 pacientes y en 12/15 la sospecha fue por ETT y en los tres restantes por angiotomografía coronaria. La arteria circunfleja fue la más involucrada en forma aislada o asociada a otra anomalía coronaria (12/15 pacientes) y en los tres casos restantes la coronaria anómala tuvo un trayecto interarterial, siendo las arterias coronarias derecha y la descendente anterior las afectadas. Conclusiones: El subdiagnóstico por ETT de las anomalías de las arterias coronarias puede deberse a la dificultad para su visualización, sobre todo en la población adulta. Su detección es crucial, ya que puede generar muerte súbita asociada a isquemia miocárdica y arritmias graves o complicar procedimientos intervencionistas sobre el septum interauricular o sobre los anillos mitral, pulmonar y/o aórtico.
Abstract Introduction: The anomalous aortic origin of the coronary arteries has an estimated prevalence of 0.02-5.7%. It can be associated with sudden death when it has an interarterial or intramural pathway or be damaged during interventions on the mitral, pulmonary and/or aortic annulus or percutaneous closure of an interatrial septal defect. Objective: To identify these patients by imaging techniques such as transthoracic color Doppler echocardiography (TTE), computed tomography (CT) multislice angiography or coronary angiography. Methods: The imaging techniques used for the detection of coronary anomalies were TTE, multislice coronary angiography or coronary angiography according to what is generally accepted. Results: Fifteen patients were identified; in 12 of them the suspicion was due to TTE and in the remaining 3, CT multislice angiography was diagnostic. The circumflex artery was the coronary artery most involved, associated or not with another coronary anomaly (12/15 patients) and in the other three cases, the anomalous coronary artery had an interarterial course, with the right coronary arteries and the anterior descending coronary arteries being involved. Conclusions: The under diagnosis by TTE of coronary artery abnormalities may be due to the difficulty of visualization that is accentuated with age. Their detection is crucial because they can both, lead to sudden death associated with an intramural and/or interarterial pathway and complicate an interventional procedure on the interatrial septum or within the mitral, pulmonary and/or aortic rings.
ABSTRACT
Hyaluronic acid (HA) dermal fillers are widely used in aesthetic treatments for facial and lip modeling. Despite HA fillers has largely known to be use in procedures for augmentation the lip volume, their application to management lip abnormalities is not widespread. This study reviewed the use of HA fillers for reconstruction of congenital and acquired li p asymmetries and deformities, searching to expand knowledge about this treatment modality. To undertake this narrative review, the Medline-Pubmed, Web of Science, Scopus, Embase, Google Schoolar e Lillacs databases were searched. Several studies have reported positive results in the use of HA fillers for the treatment of lip deformities caused by different factors such as: Insatisfactory dermal fillers, permanent lip implants, excision of lip carcinoma, post-operative scars and electrical burns. HA fillers are also an alternative for the management of lip asymmetries and residual surgical scars in patients with cleft lip. Moreover, injection of HA fillers in individuals with facial paralysis and facioscapulohumeral muscular dystrophy can also improve lip incompetence. Additionally, HA fillers can be used as a complementary treatment in cases of severe malocclusion associated with skeletal changes, helping to maintain the seal and refine the lip appearance. Therefore, HA fillers can be used as alternative treatment for several types of congenital and acquired lip deformities and asymmetries. However, it is necessary to carry out randomized clinical trials with a greater number of patients and follow-up time, in order to investigate the benefits of the HA fillers for carriers patients of lip abnormalities.
Los rellenos dérmicos de ácido hialurónico (AH) son muy utilizados en tratamientos estéticos para el modelado facial y de labios. A pesar de que se sabe en gran medida que los rellenos de HA se utilizan en procedimientos para aumentar el volumen de los labios, su aplicación para el tratamiento de anomalías labiales no está muy extendida. Este estudio revisó el uso de rellenos de HA para la reconstrucción de asimetrías y deformidades labiales congénitas y adquiridas, buscando ampliar el conocimiento sobre esta modalidad de tratamiento. Para realizar esta revisión narrativa, se realizaron búsquedas en las bases de datos Medline-Pubmed, Web of Science, Scopus, Embase, Google Schoolar y Lillacs. Varios estudios han reportado resultados positivos en el uso de rellenos de HA para el tratamiento de deformidades labiales causadas por diferentes factores tales como: rellenos dérmicos insatisfactorios, implantes labiales permanentes, escisión de carcinoma labial, cicatrices postoperatorias y quemaduras eléctricas. Los rellenos de HA también son una alternativa para el manejo de asimetrías labiales y cicatrices quirúrgicas residuales en pacientes con labio hendido. Además, la inyección de rellenos de HA en personas con parálisis facial y distrofia muscular facioescapulohumeral también puede mejorar la incompetencia de los labios. Además, los rellenos de HA se pueden usar como un tratamiento complementario en casos de maloclusión severa asociada con cambios esqueléticos, lo que ayuda a mantener el sellado y refinar la apariencia de los labios. Por lo tanto, los rellenos de HA se pueden utilizar como tratamiento alternativo para varios tipos de deformidades y asimetrías labiales congénitas y adquiridas. Sin embargo, es necesario realizar ensayos clínicos aleatorizados con mayor número de pacientes y tiempo de seguimiento, para investigar los beneficios de los rellenos HA para pacientes portadores de anomalías labiales.
ABSTRACT
Abstract Background: Neonatal surgery is one of the most specialized and demanding areas of pediatric surgery due to the specific anatomical and physiological characteristics of this vulnerable group of patients. This study aimed to present the experience of 10 years of neonatal surgical management in a secondary care perinatal hospital in Mexico. Methods: We conducted a descriptive, observational, cross-sectional, and retrospective study in a perinatal hospital in Toluca, Mexico, from August 01, 2012, to July 31, 2022. We included patients who underwent surgery within the hospital facilities by the Service of Pediatric Surgery. We studied demographic, clinical, and surgical variables and performed descriptive and inferential statistics. Results: A total of 551 patients underwent surgery during this period with a prevalence of 0.5%. The number of patients operated in the neonatal period was 497 (90.1%). Forty-eight pathologies were recorded, with a predominance of congenital malformations in 64.6% and prenatal diagnosis in 40.5% of cases. The survival rate was 89.7%. In the bivariate analysis of mortality, we found an inverse relationship between weight and gestational age (p < 0.05). Conclusion: Although not a local or national reference center, the hospital where the study was conducted treats various congenital and acquired diseases, with a mortality rate that tends to decrease, close to the international average, and lower than national reports.
Resumen Introducción: La cirugía pediátrica en la atención del recién nacido es una de las ramas más especializadas y demandantes debido a las particulares características anatómicas y fisiológicas de este vulnerable grupo de pacientes. El objetivo de este estudio fue presentar la experiencia de diez años de manejo quirúrgico neonatal en un hospital perinatal de segundo nivel de atención en México. Métodos: Se llevó a cabo un estudio descriptivo, observacional, transversal y retrospectivo, en un hospital perinatal de Toluca, México, del 01 de agosto de 2012 al 31 de julio de 2022. Se incluyeron los pacientes sometidos a cirugía dentro de las instalaciones del hospital por parte del servicio de Cirugía Pediátrica. Se estudiaron variables demográficas, clínicas y quirúrgicas, realizando estadística descriptiva e inferencial. Resultados: Un total de 551 pacientes fueron intervenidos quirúrgicamente en este periodo, con una prevalencia de 0.5%. La cantidad de pacientes operados en el periodo neonatal fue de 497 (90.1%). Se presentaron 48 patologías con predominio de las congénitas en el 64.6% y diagnóstico prenatal en el 40.5% de los casos. La supervivencia de los pacientes fue del 89.7%. En el análisis bivariado de mortalidad se encontró una relación inversa con el peso y edad gestacional (p < 0.05). Conclusiones: En el hospital donde se realizó el estudio, a pesar de no ser un centro de referencia local o nacional, se atiende una amplia diversidad de padecimientos congénitos y adquiridos, con una mortalidad con tendencia a disminuir cercana a la media internacional y menor que los reportes nacionales.
ABSTRACT
RESUMO O objetivo do presente estudo é investigar a distribuição temporal das taxas de malformações congênitas no estado do Rio Grande do Sul e sua associação com o uso de agrotóxicos. A pesquisa é de abordagem quantitativa, do tipo descritivo exploratória, realizada durante o primeiro semestre de 2022. O estudo foi conduzido através da associação da ocorrência de malformações com o uso de agrotóxicos, que foi calculada por meio dos Odds Ratios, sendo o Intervalo de Confiança (IC) adotado para as amostras de 95%. Houve variação nas taxas de malformações congênitas ao longo dos cinco períodos analisados. Os resultados indicam que há probabilidade da ocorrência de malformações no estado do Rio Grande do Sul estar associada ao uso de agrotóxicos. Todos os valores de variações percentuais anuais foram significativos e a presença de valores positivos indica tendência de aumento anual da incidência de malformações congênitas no Rio Grande do Sul. É evidente ainda que há variabilidade no número de casos notificados para todas as malformações incluídas no estudo ao longo do período analisado. Ressalta-se a importância de prevenção da exposição aos agrotóxicos, visto que o uso extensivo e inadequado desses está associado a efeitos deletérios na saúde humana.
ABSTRACT The aim of this study is to examine the temporal distribution of congenital malformation rates in Rio Grande do Sul and its potential correlation with pesticide use. This quantitative research adopts an exploratory descriptive approach and was conducted in the first half of 2022. The association between malformation occurrences and pesticide use was determined using Odds Ratios, with a 95% Confidence Interval (CI) applied to the sample. The study reveals variations in congenital malformation rates across the five analyzed periods. The findings suggest a likely association between malformation occurrences in Rio Grande do Sul and pesticide use. Notably, all annual percentage variation values were statistically significant, with positive values indicating an annual increase in congenital malformation incidences in the region. Moreover, the study highlights the presence of variability in the reported cases of all malformations examined throughout the analyzed period. This research underscores the importance of preventing exposure to pesticides, as their widespread and inappropriate usage is linked to detrimental effects on human health. Safeguarding against such exposure becomes crucial in mitigating the risks associated with congenital malformations.
ABSTRACT
El déficit selectivo de IgA se define como la ausencia parcial o total de IgA en el suero, con cifras normales en el resto de las inmunoglobulinas. Se presentó una paciente femenina de 1 año y 7 meses, de padres no consanguíneos, con antecedentes familiares negativos para enfermedades genéticas o defectos congénitos, e IgA deficiente. Los estudios inmunológicos mostraron un gran déficit de IgA, de ahí que el diagnóstico se definió como una inmunodeficiencia congénita, por déficit selectiva de IgA o inmunodeficiencia variable común (trastorno genético producto de una herencia monogénica); para lo cual se le realiza una cuantificación de la subclase de IgG y así determinar si es una mutación en un mismo gen defectuoso. La paciente evolucionó satisfactoriamente con los tratamientos recibidos; los valores de IgA permanecieron nulos, no siendo así con el resto de las inmunoglobulinas.
Selective IgA deficiency is defined as the partial or total absence of IgA in the serum, but normal levels in the rest of the immunoglobulins. We present a female patient aged 1 year and 7 months, of non-consanguineous parents, who had a negative family pathological history for genetic diseases or congenital defects and IgA deficiency. Immunological studies showed a high IgA deficiency, hence the diagnosis was defined as congenital immunodeficiency due to selective IgA deficiency or common variable immunodeficiency (genetic disorder resulting from monogenic inheritance); a quantification of the IgG subclass was also performed in order to determine if it was a mutation in the same defective gene. The patient evolved satisfactorily with the treatments received; the IgA values remained null, but this was not the case with the rest of the immunoglobulins.
Subject(s)
Immunoglobulins , IgA Deficiency , Congenital AbnormalitiesABSTRACT
Introducción: Las anomalías congénitas renales y de las vías urinarias constituyen la principal causa de enfermedad renal crónica en la edad pediátrica. Su etiología es multifactorial. Intervienen factores maternos, genéticos y ambientales. En Cuba, las afecciones congénitas del riñón y las vías urinarias constituyen una latente preocupación y aunque se ha incrementado el diagnóstico prenatal de las mismas, el número de pacientes diagnosticados es alto. Objetivo: Contribuir al conocimiento de la comunidad científica en relación con los factores de riesgo asociados a las anomalías del desarrollo renal. Métodos: Se realizó una revisión sistemática de la literatura médica disponible en las bases de datos Ebsco, SciELO, Scopus, Pubmed, revistas de nefrología pediátrica, pediatría, genética y teratología; y en la red social académica: Researchgate. Se accedió, durante los últimos cinco años, a varios artículos publicados en español y en inglés. Se utilizaron los descriptores Congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis, congenital abnormalities. Conclusiones: La presencia de la diabetes, desde la etapa preconcepcional y durante las primeras semanas del embarazo, la obesidad, las dietas maternas bajas en proteínas, y las alteraciones de la fertilidad, se asocian a las anomalías del desarrollo renal. Existen factores de riesgo específicos para determinados tipos de defectos congénitos renales y de las vías urinarias. No se considera, que el consumo del ácido fólico tenga un papel protector sobre las alteraciones de la embriogénesis renal, por lo que se recomienda ser cauteloso con la dosis que se administra a las embarazadas.
Introduction: congenital renal and urinary tract anomalies are the main cause of chronic kidney disease in children. Its etiology is multifactorial. Maternal, genetic and environmental factors are involved. In Cuba, congenital renal and urinary tract affections constitute a latent concern, and although their prenatal diagnoses have increased, the number of diagnosed patients is high. Objective: to contribute to the knowledge of the scientific community in relation to the risk factors associated with renal developmental anomalies. Methods: a systematic review of the available medical literature was carried out in Ebsco, SciELO, Scopus and Pubmed databases, in pediatric nephrology, pediatrics, genetics, and teratology journals as well as in the academic social network: Researchgate. Several articles published in Spanish and English languages were accessed during the last five years. The used descriptors were congenital anomalies of the kidney and urinary tract, hydronephrosis, risk factors, prenatal diagnosis and congenital abnormalities. Conclusions: the presence of diabetes, from the preconceptional stage and during the first weeks of pregnancy, obesity, maternal diets low in protein, and fertility disorders, are associated with renal developmental anomalies. There are specific risk factors for certain types of kidney and urinary tract birth defects. It is not considered that the consumption of folic acid has a protective role on the alterations of renal embryogenesis, so it is recommended to be cautious with the dose administered to pregnant women.
Subject(s)
Prenatal Diagnosis , Congenital Abnormalities , Urogenital Abnormalities , Risk Factors , HydronephrosisABSTRACT
Objetivos: Reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal. Materiales y métodos: Se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico. Resultados: En la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones. Conclusiones: El REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.
Objectives: To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis. Material and methods: We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney. After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis. Results: The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases. Conclusions: Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.
Subject(s)
Humans , Male , Female , Pregnancy , Infant, NewbornABSTRACT
Introducción. Los quistes de duplicación duodenal son malformaciones raras, que ocurren durante el desarrollo embriológico del tracto gastrointestinal. Caso clínico. Se presenta el caso de un niño de tres años, con cuadro clínico de dolor abdominal, náuseas y vómitos. La ecografía y la tomografía computarizada informaron una imagen quística entre el hígado, riñón derecho y colon. Resultados. Se realizó laparoscopia encontrando un quiste de duplicación duodenal con moco en la primera porción del duodeno. Se practicó una resección del quiste y mucosectomía del segmento restante. Conclusión. Los síntomas de un quiste de duplicación duodenal son inespecíficos y su hallazgo frecuentemente es incidental. El tratamiento quirúrgico depende del tamaño, la ubicación y su relación con la vía biliar.
Introduction. Duodenal duplication cysts are rare malformations that occur during the embryological development of the gastrointestinal tract. Clinical case. The case of a three-year-old boy with abdominal pain, nausea, and vomiting is presented. Ultrasound and computed tomography revealed a cyst between the liver, right kidney, and colon. Results. Laparoscopy was performed, finding a duodenal duplication cyst with mucus in the first portion of the duodenum. A resection of the cyst and mucosectomy of the remaining segment were performed. Conclusion. The symptoms of a duodenal duplication cyst are nonspecific and its finding is frequently incidental. Surgical treatment depends on the size, location, and relationship to the bile duct.