Phylogenetic relationships and description of two new species of Diapoma (Characidae: Stevardiinae) from the La Plata River basin

Herein we describe two new species of Diapoma, one from the Negro River, a tributary of the Uruguay River in Brazil and Uruguay, and one from the Iguaçu River, in Brazil and Argentina. The new species from the Negro River basin is distinguished from its congeners by the following combination of characters: a black narrow and conspicuous line restricted to the body horizontal septum, incomplete lateral line, tricuspid teeth in the inner series of the premaxilla, and a lower body depth at vertical through the dorsal-fin origin (29.3-32.8% SL in males and 27.7-33.3% SL in females). The new species from the Iguaçu River basin is distinguished from its congeners by the following combination of characters: a discontinuous lateral line, adipose fin hyaline, longer anal-fin base (26.5-32.4% SL), and a longitudinal black stripe along the median region of caudal-fin rays. Additionally, we updated the molecular phylogeny of the genus, including new sequences from these two new species and Diapoma thauma. An identification key for species of Diapoma is presented, modified from previous study.(AU)

Neste trabalho descrevemos duas espécies novas de Diapoma, uma do rio Negro, afluente do rio Uruguai, Brasil e Uruguai, e a segunda do rio Iguaçu, Brasil e Argentina. A espécie nova do rio Negro é diagnosticada de suas congêneres pela combinação das seguintes características: uma linha preta, estreita e conspícua restrita ao septo horizontal do corpo, linha lateral incompleta, dentes da série interna da pré-maxila tricuspidados, e baixa altura do corpo na vertical que passa pela origem da nadadeira dorsal (29,3-32,8% SL em machos e 27,7-33,3% SL em fêmeas). A espécie nova do rio Iguaçu é diagnosticada de suas congêneres pela combinação das seguintes características: linha lateral descontínua, nadadeira adiposa não pigmentada de preto, base da nadadeira anal longa (26,5-32,4% SL) e raios médios da nadadeira caudal com uma linha preta longitudinal. Adicionalmente, atualizamos a filogenia molecular do gênero, incluindo novas sequências destas duas espécies novas e de Diapoma thauma. Uma chave de identificação para as espécies de Diapoma é apresentada, modificada de estudo anterior.(AU)

Fístula retroauricular complicada asociada a disgenesia mayor del oído externo. Reporte de un caso / Complicated retroauricular fistula with external ear major dysgenesis. A case report

Las anomalías de las hendiduras y arcos branquiales son la segunda causa más común de lesiones congénitas de cabeza y cuello en niños. Representan el 8% de todas las malformaciones congénitas y el 30% de las de cabeza y cuello. Pueden permanecer asintomáticas o manifestarse como una tumefacción y asociarse a infecciones recurrentes supuradas en la región preauricular, subauricular o retroauricular, en las regiones de la parótida y/o del cuello. Fueron reportados casos asociados a malformaciones óticas.La tomografía computada de alta resolución y la resonancia magnética con gadolinio pueden ayudar al diagnóstico. El tratamiento médico antibiótico está indicado ante una infección aguda, además de incisión y drenaje en los procesos abscedados. El tratamiento definitivo es quirúrgico con la extirpación completa de la lesión. Se presenta a un niño de 6 años de edad con infección aguda en la región retroauricular derecha en el oído disgenésico

Branchial cleft anomalies are the second most common congenital head and neck lesions in children. The first congenital head and neck lesion is thyroglossal duct cysts. First branchial cleft anomalies are rare congenital head and neck malformations (8% of branchial cleft anomalies).The initial clinical manifestation was recurrent infections and/or discharge in auricular, periauricular, parotid or upper neck regions. These anomalies are extremely rare and other associated facial malformations were described.The computed tomography and magnetic resonance can help the diagnosis. The antibiotic treatment is indicated in acute infection. Also, incision and drainage are recommended in abscessed processes.In this report, we present a case of retroauricular sinus infection in a 6-year-old child with congenital ear anomalies

Parasitic lesions in fish in the Federal District, Brazil

Brazil has a vast territory and favorable climatic conditions that allow the cultivation of freshwater fish. The intensification of the productive system can cause an imbalance in the aquatic environment as a result of poor water quality, nutritional deficiencies and infectious or parasitic diseases. The laboratory diagnosis and the determination of the prevalence of the main lesions, which occur in a certain region, help to guide towards the etiological diagnosis. This study aimed to describe the main parasitic lesions in fish in the routine at the Veterinary Pathology Laboratory of the Universidade de Brasília (UnB). All records of fish with parasitic lesions were recovered. Those cases in which there was an intralesional parasite and which presented lesions compatible with the parasite were included. The screening of ectoparasites was done by scraping the superficial mucus from the gills and skin. Organ sections were routinely processed for histopathologyand stained with hematoxylin-eosin (HE). In some records, parasitological identification was carried. The information was divided into the species of the affected fish, epidemiology of the outbreak (water quality, temperature, type of breeding), lesion distribution, etiology and macroscopic and microscopic changes. The resulting data was organized in absolute frequency and percentage. In this study, 22 cases were counted, between individual deaths and outbreaks, totaling 83 necropsied teleost fish. Inflammatory changes of parasitic origin were seen in 13/22 (59%) of the cases had lesions of parasitic origin. Skin lesions and gills were the most relevant. Macroscopically, red areas or spots of hyperemia or hemorrhage on the body surface were the most prevalent findings. Under microscopy, proliferative gill inflammation was the most relevant diagnosis. Pscinoodinium pilullare (Dinoflagellida), Ichthyophthirius multifiliis (Ciliophora), and monogenetic worms (Monogenea) were the main parasites found. Trichodina sp. (Ciliophora), Ichtyobodo sp. (Kinetoplastida), Amoebas, and Chilodonella sp. (Ciliophora), were seen in fewer numbers. An unusual case suggestive of parasitism by Eustrongylides sp. (Nematoda), in a pirá-brasília (Simpsonichthys boitonei), specimen has been recorded. The diagnoses were based on epidemiology, anatomopathological and parasitological findings. The most frequent and significantly lethal lesion in the study was proliferative and / or hyperplastic branchitis. Proliferative branchitis with lamellar epithelial hyperplasia (LEH) is a response to some type of chemical or mechanical injury to the gill epithelium in order to protect the capillaries from further damage or microbial penetration. However, it also increases the diffusion distance between capillaries and the environment and, therefore, hinders breathing, excretory and osmoregulatory functions. Protozoan infections and monogenetic worms in general generated LEH and skin lesions of mechanical origin. Secondary bacterial infection, were observed in this parasitosis determining the cause of death of the fish. Its pathogenicity comes from the lesions caused by the colonization and histophagy of the epithelial surfaces, mainly gills and skin, causing epithelial proliferation, lamellar cell fusion, epithelial cell degeneration and necrosis forming several ulcers in the epithelium after the release of mature trophies. The pathogenesis of parasitism by Eustrongylides spp. is considerable when there is a large quantity of these larvae that can cause intestinal obstruction, rupture and compression of viscera, of greater importance in small fish. The main parasites of necropsied fish were protozoa and monogenetic worms, which mainly cause branquitis and dermatitis in varying grades.(AU)

Hey1 gene expression patterns during the development of branchial arches and facial prominences / Patrones de expresión del gen Hey1 durante el desarrollo de arcos branquiales y prominencias faciales

ABSTRACT Objective. The present study aimed to describe in detail the expression patterns of the gene Hey1, an effector of the Notch pathway, during the development of branchial arches and facial prominences. Materials and methods. Fertilized chicken (Gallus gallus) eggs obtained from a local egg farm were incubated at 37.5 -38.5ºC with 70% relative humidity until the embryos reached Hamilton-Hamburger stages HH14 through HH25. Digoxigenin-UTP labeled probes Hey1 were generated from linearized plasmids with either T3 polimerase for in vitro transcription. Whole-mount in situ hybridization was then performed. At least 3 replicates (n=3) were obtained for each stage. To confirm the results observed in whole embryos, sagittal and coronal cryosectioning was performed using a thickness of 10 µm. Results. During developmental stages HH14 and HH18, Hey1 gene expression was localized to the endoderm of branchial pouches. Hey1 gene expression was also observed in the epithelium that covers the maxillary and mandibular prominences during developmental stages HH19 and HH21, as well as in the nasal epithelium between HH19 and HH25. Transcripts were also detected in the epithelium that covers the frontonasal prominence during stage HH21. Conclusions. These expression patterns suggest the participation of this component of the Notch signaling pathway in craniofacial morphogenesis, possibly establishing pharyngeal segmentation patterns during early stages and/or regulating cell proliferation and differentiation during the late stages of facial development.

RESUMEN Objetivo. El presente estudio tuvo como objetivo describir detalladamente los patrones de expresión del gen Hey1, un efector de la vía Notch durante el desarrollo de arcos branquiales y prominencias faciales. Materiales y métodos. Se incubaron huevos fertilizados de pollo (Gallus gallus) obtenidos de una granja local entre 37.5-38.5ºC con humedad relativa del 70% hasta que los embriones alcanzaron los estadios HH14 hasta HH25 de Hamilton-Hamburger. Las sondas Hey1 marcadas con digoxigenina-UTP se generaron a partir de plásmidos linearizados con T3 polimerasa por transcripción in vitro. Luego se realizó hibridación in situ sobre embriones completos. Se obtuvieron al menos 3 repeticiones (n=3) para cada estadio. Para confirmar los resultados observados en embriones completos, se realizaron cortes sagitales y coronales de 10 µm. Resultados. Durante los estadios de desarrollo HH14 y HH18, la expresión del gen Hey1 se localizó en el endodermo de las bolsas branquiales. La expresión génica de Hey1 también se observó en el epitelio que cubre las prominencias maxilares y mandibulares durante las etapas de desarrollo HH19 y HH21, así como en el epitelio nasal entre HH19 y HH25. También se detectaron transcritos de Hey1 en el epitelio que cubre la prominencia frontonasal durante la etapa HH21. Conclusiones. Estos patrones de expresión sugieren la participación de este componente de la vía de señalización Notch en la morfogénesis craneofacial, posiblemente estableciendo patrones de segmentación faríngea durante las primeras etapas y / o regulando la proliferación y diferenciación celular durante las últimas etapas del desarrollo facial.

Hendidura congénita de la linea media diagnóstico y manejo quirúrgico / Congenital midline cervical cleft diagnosis and surgical management

"Introducción: la hendidura congénita de la línea media cervical es una patología infrecuente, con pocos reportes en la literatura mundial y con una incidencia menor del 2% dentro de las malformaciones congénitas. Su etiología está relacionada con defectos en la fusión de los primeros arcos branquiales. Los hallazgos clínicos de un cordón fibroso con compromiso cutáneo en la línea media cervical permiten establecer el diagnóstico de una forma temprana y precisa en la mayoría de los casos sin requerir otros estudios. Objetivo: presentar el caso de una paciente de 18 años con una lesión a nivel cervical en línea media sugestiva de un quiste del conducto tirogloso, así como la técnica quirúrgica empleada para su resección. Diseño: reporte de caso. Métodos: se realizó una nasofibrolaringoscopia sin hallazgos patológicos y una TAC de cuello contrastado que mostró un tracto fibroso a nivel sublingual, sin colección. Se llevó a resección de la lesión mediante disección completa del cordón. Discusión: el diagnóstico de la hendidura congénita de la línea media se basa en los hallazgos clínicos de la lesión y es confirmado histológicamente. La baja relación del quiste del conducto tirogloso con otras malformaciones hace que las ayudas imagenológicas sean en la mayoría de los casos innecesarias, y en caso de sospecharse, la ecografía de tejidos blandos cervicales es suficiente. Conclusión: el manejo quirúrgico es la piedra angular del tratamiento basado en su resección y corrección mediante Z-plastia. Su realización en edades tempranas minimiza la posibilidad de secuelas tanto funcionales como estéticas."

"Introduction: congenital midline cervical cleft is a rare pathology (less than 2% of congenital malformations) with very few reports in worldwide medical literature and a low incidence. Its etiology is related to defects in the fusion of the first branchial arches during embryologic development. Diagnosis is established through the clinical finding of a fibrous cord with cutaneous compromise on the cervical midline, with no need of additional complex or expensive tests. Objective: to present the case of an 18-year-old patient with a midline cervical lesion suggestive of a thyroglossal duct cyst; and to explain the surgical technique used for its resection. Design: case report. Methods: a nasofibrolaryngoscopy was performed without pathological findings and a contrast neck CT which showed sublingual a fibrous tract, without collection. A complete cord dissection was carried out. Discussion: The diagnosis of the congenital midline cleft is based on the clinical exam and confirmed through the histological findings after its resection. The low relation of the thyroglossal duct cyst with other associated malformations makes that the imaging aids are in most cases unnecessary, and in case of suspicion, cervical soft tissue ultrasound is sufficient. Conclusion: surgical management is the cornerstone of treatment based on the resection of the lesion and correction using the z-plasty technique. This surgery should be carried out at a young age in order to minimize the possibility of functional and aesthetic sequelae."

Manejo endoscópico de anomalías del cuarto arco branquial: reporte de tres casos / Endoscopic management of anomalies of the fourth branchial arch: report of three cases

Las anomalías de cuarto arco branquial corresponden a una entidad patológica infrecuente. Para su manejo existen distintas alternativas terapéuticas siendo una de ellas la cauterización endoscópica. Reportamos 3 casos de senos de cuarto arco branquial tratados mediante cauterización endoscópica en el Hospital Regional de Concepción luego de una revisión de fichas clínicas de todos los pacientes con diagnóstico de anomalías de cuarto arco branquial. Se identificaron tres casos de senos de cuarto arco branquial. Todos corresponden a pacientes de sexo masculino que presentaron cuadro de absceso cervical, diagnosticándose 2 de ellos al presentar recurrencia. Todos fueron tratados mediante cauterización endoscópica de la apertura fistulosa en seno piriforme. Estas anomalías representan vestigios de un trayecto que se origina desde el vértice del seno piriforme. La cauterización endoscópica presenta una serie de ventajas con tasas de recurrencia similares a la cirugía abierta de cuello, menores tasas de complicaciones y costo económico. Las anomalias de cuarto arco branquial constituyen una patología infrecuente y el diagnóstico requiere alta sospecha clínica. El manejo endoscópico ha demostrado ser una alternativa segura y efectiva con menor tasa de complicaciones.

Anomalies of the fourth branchial arch correspond to an uncommon pathological entity. There are different therapeutic alternatives being one of them the endoscopic cauterization. We report 3 cases of fourth branchial arch anomalies treated by endoscopic cauterization in the Regional Hospital of Concepción. Review of clinical records of all patients with diagnosis of fourth branchial anomalies operated by endoscopic cauterization at the Regional Hospital of Concepción. Cases: Three cases of fourth branchial arch sinus were identified. All of them were male patients who presented with a cervical abscess, diagnosing 2 of them when they recurred. All 3 cases were treated by endoscopic cauterization of the fistulous opening in the piriform sinus. These anomalies represent vestiges of a path that originates from the apex of the piriform sinus. Endoscopic cauterization presents a number of advantages with recurrence rates similar to open neck surgery, with lower complication rates and economic cost. Fourth branchial anomalies constitute an uncommon pathology and the diagnosis requires high clinical suspicion. Endoscopic management has proven to be a safe and effective alternative with a lower rate of complications.

Quiste de primer arco branquial, reporte de caso y revisión de la literatura / First branchial arch cyst, case report and review of the literature

Los quistes branquiales de primer arco son una malformación congénita de baja frecuencia. Se desarrollan por la fusión incompleta de la hendidura faríngea entre el primer y el segundo arco branquial. Pueden permanecer silentes por mucho tiempo y manifestarse cuando se sobreinfectan, causando significativa morbilidad. Por lo general, se presentan en la infancia, pero muchas veces su diagnóstico es tardío ya que son difíciles de diferenciar de adenopatías u otras masas, debiendo ser considerados dentro del diagnóstico diferencial de masa cervical y parotídea, especialmente en pacientes jóvenes. La cirugía es el tratamiento definitivo, requiriendo una escisión completa del quiste y su trayecto fistuloso para evitar las recurrencias. Debido a su localización intra-parotídea y complejidad morfológica, es necesario conocer la anatomía en detalle para evitar lesionar el nervio facial. En esta revisión, se pretende presentar las características clínicas y resultados quirúrgicos en una paciente lactante con diagnóstico de quiste de primer arco, asícomo efectuar una revisión de la literatura.

First branchial arch cysts are very infrequent congenital malformations. Their development is due to an incomplete fusion of the pharyngeal cleft between the first and second branchial arch. They can remain silent for a very long time and manifest when they become infected, causing significant morbidity. In general, they present in child-hood, but many times its diagnosis occurs on a late onset since they are difficult to differentiate from lymphadenopathies or other masses. So, they should be considered on the differential diagnosis of cervical and parotid masses, especially in young patients. Surgery is its definitive treatment. Complete excision of the cyst and its fistula must be performed to avoid recurrences. Due to its intraparotid localization and morphological complexity it is necessary to understand the anatomy in detail to avoid facial nerve le-sions. In this revision, we aim to present clinical characteristics and surgical outcomes in an infant with the diagnosis of first branchial arch cyst and to review the literature.

Braquio-dorso-mamoplastia: cirurgia do contorno corporal da região superior do tronco após grandes perdas ponderais / Brachial-dorsal mammoplasty: body contour surgery of the upper region of the trunk after major weight loss

INTRODUÇÃO: No Brasil foram realizadas 88 mil cirurgias bariátricas em 2014. Após o emagrecimento, ocorre desinsuflação de todo o tronco, com flacidez e dobra de excesso cutâneo das mamas à região dorsal posterior. Por isso, propomos procedimento cirúrgico que trate a região superior toda do tronco, incluindo mamas, dorso lateral e posterior e braços. OBJETIVO: Mostrar a experiência pessoal em cirurgias de braquio-dorso-mamoplastia. MÉTODO: Foram operados 13 pacientes no período de 2007 a 2014, sendo 11 mulheres e dois homens. RESULTADOS: A média de idade foi de 41,9 anos. A braquio-dorso-mamoplastia foi realizada em todos os pacientes. Em três casos, foi realizada braquio-dorso-mamoplastia em L, devido à menor deformidade latero-posterior. A duração média das cirurgias foi de 4 horas e 30 minutos. O Índice de Massa Corporal (IMC) médio, antes da cirurgia bariátrica, foi de 53,5 kg/m2. As perdas ponderais variaram de 47 a 114 kg. O IMC pré-operatório variou de 23 a 39 kg/m2. Não houve casos de infecção, grandes deiscências ou seroma. Duas pacientes evoluíram com hematoma, necessitando de nova intervenção para drenagem. CONCLUSÃO: As deformidades da região torácica no paciente com perda ponderal maciça são variáveis, sendo necessários diversos tratamentos cirúrgicos que deverão abordar o tórax inteiro como área anatômica única. É importante compreender a deformidade que cada paciente apresenta e adequar a abordagem cirúrgica em conformidade. A indicação principal para uma braquio-dorso-mamoplastia é a queda lateral do sulco inframamário.

INTRODUCTION: In Brazil, 88000 bariatric surgeries were performed in 2014. After weight loss, deflation occurs around the trunk, with sagging and folding of excess skin of the breasts in the posterior dorsal region . We, therefore, propose a surgical procedure to treat upper region of the entire trunk, including breasts, side and rear back, and arms. OBJECTIVE: To present a personal experience in brachial-dorsal mammoplasty surgeries. METHOD: We operated 13 patients from 2007 to 2014, 11 women and two men. RESULTS: The average age was 41.9 years. The brachial-dorsal mammoplasty was performed in all patients. In three cases, L-brachial-dorsal mammoplasty was performed, due to lower latero-posterior deformity. The average surgery duration was 4 hours and 30 minutes. The average Body Mass Index (BMI), before bariatric surgery, was 53.5 kg/m2. Weight loss ranged from 47 to 114 kg. The pre-surgery BMI ranged from 23 to 39 kg/m2. There were no cases of infection, large dehiscence or seroma. Two patients developed hematoma, requiring a new intervention for drainage. CONCLUSION: Deformities of the thoracic region in patients with large weight loss are variable, requiring several surgical treatments that should address the entire chest as a single anatomical area. It is important to understand the deformity that each patient presents and adapt the surgical approach accordingly. The main indication for a brachial-dorsal mammoplasty is lateral drop of the inframammary fold.

Nuevas manifestaciones orales del síndrome branquio-óculo-facial: Caso clínico / New oral manifestations of Branchio-oculo-facial syndrome: Case report

El síndrome branquio-óculo-facial es una condición autosómica dominante con expresividad variable y que afecta particularmente las estructuras de la cara y cuello por un desarrollo inadecuado del primero y segundo arco branquial; presenta malformaciones de los ojos y oídos, con características faciales distintivas. Está asociado con alteraciones en el gen TFAP2A. Se presenta una paciente de 9 años con fenotipo de síndrome branquio-óculo-facial y la presencia de dos nuevas manifestaciones orales, la úvula bifida y la lengua con hendidura central parcial, no descritas hasta ahora en esta condición clínica.

The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.

Fístula laterocervical izquierda de tercer arco branquial: caso clínico / Third left laterocervical fistula gill arch: case report

En el presente trabajo queremos describir un caso poco común de trayecto fistuloso cervical. Se presenta en un nino y nos parece importante a tener en cuenta como diagnóstico diferencial, dentro de la otorrinolaringología infantil. Las anomalías branquiales pueden presentarse como quistes, trayectos sinusoidales o fístulas. Se explican por un mal desarrollo del arco branquial durante el periodo embriológico. Se presentan principalmente en la infancia entre los 2 a 3 años de edad y a veces también en la juventud. Aparecen igualmente en ambos sexos. Las fistulas del primer arco branquial son raras (1%-8%), las más comunes son las del segundo arco (90%). En nuestra experiencia el método de imagen de elección para evaluar las anomalías de los arcos branquiales es la fistulografia. El tratamiento de todas ellas es la exéresis quirúrgica.

In this paper we describe a rare case of cervical fistula tract. It comes in a child and it seems important to consider in the differential diagnosis, in ORL child. Branchial anomalies can present as cysts or fistulas sinusoidal paths. Explained by poor development of gill arch during embryologic. They occur mainly in children between 2-3 years of age and sometimes in youth. Appear equally in both sexes. The first brachial arch fistulas are rare (1%-8%>), the most common are the second arch (90%%). In our experience the imaging method of choice to evaluate abnormalities of the brachial arches is the sinogram. Treatment is surgical removal.

Caracterización epidemiológica y clínica de pacientes operados con diagnóstico de quiste branquial / Epidemiological and clinical characterization of operated patients diagnosed with branchial cyst

Branchial Cysts are uncommon anomalies in regular clinical practice. However, among congenital cervical cysts, they represent about 30% from total. Objective: Characterize patients diagnosed with operated branquial cyst in our clinical center, and correlate clinic, imaging and final diagnose. Material and methods: Retrospective descriptive study of discharged patients diagnosed as cervical cysts, between January 2005 and July 2011, at Hospital Clinico Universidad de Chile. Selection of Clinical records with final diagnose of branchial cyst were selected. Age, sex, clinical story, imaging exams, pre-operative and post-operative diagnoses, and biopsy report were registered. Results: from a total of 149 cervical cysts, 31 (20,8%) were branchial cysts. Man 45% and women 55%. By age, 9 (29%) were < 15 years old (average: 6,69 years) and 22 (70,9%) > 15 years (average: 33,7 years). Lateral cervical mass was the most common clinical manifestation. Regarding Imaging study, 15 cervical ultrasounds (sensibility 0,86 and specificity 0,98) and 13 cervical CTA scans (sensibility 0,92 and specificity 0,94) were conducted. In 9 patients, imaging studies weren't conducted for the clinical diagnose (sensibility 0,77 and specificity 0,98). Correlation of pre-operative and post-operative diagnose was 87%. Discussion: According to literature, presentation age is generally during childhood; however, in our statistics it presented during adult age, which could be explained due to the main focus our medical center has for adult population. Most common clinical presentation was lateral neck mass, which had a good clinical correlation, however improves with imaging studies. (AU)

Fissura congênita cervical da linha média / Congenital midline cervical left", "_e": "n

Existe uma deformidade cervical da linha média que tem sido descrita com vários nomes. Embora sua causa embriológica continue sendo controversa, a etiologia mais aceita até hoje é a falha da fusão na linha média dos arcos branquiais distais. A característica principal é uma lesão protuberante na linha média da região anterior do pescoço, entre o mento e a fúrcula esternal. Recomenda-se a ressecção cirúrgica completa da lesão, e a reconstrução do defeito com w-plastia ou zetaplastia. Neste artigo, é relatado o caso de uma paciente de 38 anos, com fissura congênita cervical da linha média. Após exérese da lesão, foi realizada zetaplastia simples, obtendo-se bom resultado tanto estético como funcional. As fissuras congênitas cervicais da linha média são alterações raras na população mundial, porém seu diagnóstico precoce e tratamento cirúrgico adequado são necessários para prevenir alterações no crescimento facial e restrição na extensão do pescoço.

Congenital midline cervical cleft is a deformity known by several names. Although its embryologic origin has not been clearly established, the most widely accepted etiology is impaired midline fusion of the distal branchial arches. The main characteristic of this malformation is a protruding lesion at the midline of the anterior neck, between the chin and the suprasternal notch. Complete surgical resection of the lesion is recommended, with repair of the defect using W-plasty or Z-plasty. This article reports the case of a 38-year-old patient with congenital midline cervical cleft. A simple Z-plasty was carried out after excision of the lesion, and a satisfactory aesthetic and functional result was achieved. Congenital midline cervical cleft is a rare abnormality; however, early diagnosis and appropriate surgical treatment are necessary to avoid changes in the development of the face and limitation of neck extension.

Desarrollo de Cara y Cuello en Vertebrados / Face and Neck Development in Vertebrates

El desarrollo embrionario de las regiones facial, del cuello, cavidades nasales y oral en conjunto con las glándulas asociadas, involucra el crecimiento y fusión tridimensional de múltiples procesos. Existe participación de elementos derivados de las 3 capas embrionarias locales y adicionalmente de células derivas de la cresta neural, procedentes de los rombómeros vecinos. Estas últimas se ven involucradas en la formación del esqueleto local, entre otras estructuras. El estudio evolutivo desde los vertebrados sin mandíbula nos enseña como se expresan los genes Hox en las diferentes especies, y como esto determina la formación de diferentes estructuras. En la siguiente revisión contemplamos algunos aspectos morfológicos, moleculares y evolutivos básicos del desarrollo facial y cervical, con énfasis en mamíferos con un epílogo referente a las malformaciones de la región en humanos.

The embryonic development of the facial area, neck, nasal, oral and pharyngeal cavities with glands, involves growth and fusion of multi-dimensional processes. There is involvement of elements from the embryo-derived local 3 layers cells further neural crest derived cells from the neighbors rhombomeres. The neural crest cells are involved in the formation of local skeleton, among other structures. The study of evolution from jawless vertebrates shows us how Hox genes are expressed in different species, and how this determines the formation of different structures. The following review contemplate some morphological, molecular and evolutionary basis of facial and neck development, with emphasis on mammals with an epilogue concerning to the face and neck malformations in humans.

Comparative morphology of gill glands in externally fertilizing and inseminating species of cheirodontine fishes, with implications on the phylogeny of the family Characidae (Actinopterygii: Characiformes)

The structure and form of gill gland among inseminating and externally fertilizing species of the Cheirodontinae are described under light microscopy, scanning electron microscopy, and transmission electron microscopy, and compared to other members of the family Characidae. At least one species from thirteen cheirodontine genera were analyzed, totaling seventeen species. Gill glands were found in all analyzed mature males of Cheirodontinae and were always absent in females, being located on the anteriormost portion of the lower branch of the first gill arch, extending posteriorly through a variable number of gill filaments. Gill glands of all cheirodontines and of all characid species in which this organ has been described possess the same structure, being considered homologous and supporting a single origin of the structure in a common ancestor to Clade A and Clade B characids.

A estrutura e forma da glândula branquial de queirodontíneos inseminadores e de fecundação externa são descritas com base em análises de microscopia óptica, microscopia eletrônica de varredura e microscopia eletrônica de transmissão, e comparadas com outros membros da família Characidae. Pelo menos uma espécie de treze gêneros de Cheirodontinae foram analisadas, num total de dezessete espécies. Glândulas branquiais foram encontradas em todos os machos maduros analisados de Cheirodontinae, localizadas na parte mais anterior do ramo inferior do primeiro arco branquial, estendendo-se posteriormente por um número variável de filamentos branquiais, estando sempre ausentes nas fêmeas. As glândulas branquiais de todos os queirodontíneos analisados e de todas as espécies de Characidae em que este órgão foi descrito possuem a mesma estrutura, sendo consideradas homólogas e suportando uma origem única em um ancestral comum aos Clados A e B de Characidae.

Síndrome brânquio-otorrenal: um importante alerta / Branchio-oto-renal syndrome: an important warning

A síndrome brânquio-otorrenal (SBOR) é uma doença autossômica dominante, provocada por mutações em genes da organogênese humana, principalmente o gene EYA 1. Sua incidência é de 1 em 40.000 recém-nascidos vivos. As manifestações clínicas da SBOR decorrem de transtorno genético e envolvem perda auditiva de condução, neurossensorial ou mista, malformações da orelha externa, média e interna, cistos ou fístulas branquiais e anomalias renais que podem variar de hipoplasia a agenesia renal. O diagnóstico clínico da SBOR se baseia na presença de critérios clínicos. A genética molecular é de grande valor para a confirmação do diagnóstico e para estabelecer o diagnóstico pré-natal. Testes audiométricos completos e exames renais apurados são indicados a fim de mensurar com precisão a extensão dos danos causados pela doença. Sua ampla variabilidade clínica sugere, na literatura, que os diferentes fenótipos dessa síndrome representam, na realidade, grupos heterogêneos de doenças, que fazem diagnóstico diferencial, principalmente, com a síndrome brânquio-otorrenal. O tratamento se limita a reparar os danos causados pela doença, podendo estar indicado o uso de próteses auriculares ou intervenções cirúrgicas otológicas e renais, a fim de melhorar a qualidade de vida dos pacientes. O aconselhamento genético é a melhor forma de prevenção, sendo fundamental no tratamento.

Anomalías congénitas del aparato branquial: estudio de imágenes / Congenital anomalies of the branchial apparatus: imaging study

: The branchial apparatus consists of six arches that are separated from each other by branchial clefts and pharyngeal pouches. Its development is complex and multiple congenital defects can occur; including branchial cleft cysts, sinuses and fistulas, thymic cysts, aberrant thymic tissue and parathyroid cysts. The majority arises from the second branchial arch and they correspond to vestigial remnants from incomplete obliteration of the branchial apparatus or buried epithelial cell rests. Imaging studies are very helpful in the diagnosis and characterization of these anomalies, and require a good understanding of the embryogenesis. Considering the anatomical location and the radiological appearance the diagnosis could be precised in most cases. The purpose of this presentation is to show the appearance of some of the most frequent congenital anomalies of the branchial apparatus using different imaging modalities and emphasizing the normal embryologic development.

El aparato branquial, formado por seis arcos separados por hendiduras extemas y bolsas faríngeas en su parte interna, tiene un complejo desarrollo del cual pueden derivar anomalías como senos, fístulas o quistes y alteraciones del timo o glándula paratiroi-des. La mayoría de las malformaciones derivan del segundo componente branquial. Los estudios de imagen son útiles para el diagnóstico y caracterización de estas lesiones que será más exacta con un adecuado conocimiento del desarrollo embriológico. El objetivo de esta presentación es revisar la embriología y el aspecto más común en imágenes de algunas de estas anomalías.

Quiste cervical lateral: una anomalía congénita del segundo arco branquial / Lateral cervical cyst: a congenital anomaly of the second branchial arch

Se reporta un caso de quiste branquial de 12 años de evolución diagnosticado en un paciente varón de 45 años. La lesión se presentó como una masa asintomática de 7 cm de diámetro ubicada debajo de la piel, delante del tercio medio del músculo esternoclaidomastoideo. El diagnóstico preoperatorio se basó en el estudio de una TAC y examen citológico de una punción aspiración. Se revisa la literatura en relación con histogénesis, aspectos clínicos e histológicos y posibilidades de malignización del epitelio quístico.

Utilización peroperatoria del azul de metileno en patología quística del segundo arco branquial / Preoperatory utilization of the methylence blue in cystic pathology of the branchial second arcus

Reportar la técnica de coloración con azul de metileno de lesiones derivadas de los arcos branquiales como un método que facilita su disección. Descripción de dos casos clínicos en pacientes jóvenes con patología cervical. La evaluación clínica y los estudios preoperatorios confirmaron el diagnóstico de quistes branquiales del segundo arco, quienes sometidas a resección quirúrgica previa infiltración de la lesión con azul de metileno, procediendo a la disección del cuello según técnica habitual. Se observa la lesión y sus límites perfectamente coloreados, delimitando sus relaciones con las estructuras vecinas. La evolución posoperatoria fue satisfactoria. Los quistes branquiales constituyen la patología tumoral congénita del cuello más frecuente. Es de suma importancia la adecuada disección de la lesión ya que sus relaciones con las estructuras profundas del cuello hacen probable la lesión iatrogénica. La utilización del colorante permitió la disección y resección más segura con menor riesgo de lesión. La literatura relacionada es revisada