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An aneurysm is defined as a localized dilation of a blood vessel or heart. It may have either a congenital or an acquired origin and occurs in both humans and animals. Cardiac aneurysms are rare, and are characterized by sacculations of the cardiac wall. The present case report describes the macroscopic and microscopic findings of an aneurysm affecting both ventricles of the heart in a dog. A 7-year-old mixed-breed female dog with osteosarcoma on the left pelvic limb was euthanized and submitted to the veterinary pathology laboratory for necropsy. Macroscopically, besides the lesions in the link, the pericardial sac was adhered to the pericardial surface of the heart and there were two sacculations in both ventricles which communicated widely with the respective ventricle. Microscopically, fibrous tissue adhered to the pericardium, atrophy and necrosis of the cardiomyocytes with replacement by adipocytes were observed in addition to hyperplasia of the tunica media of arterioles and thrombosis. A diagnosis of acquired biventricular cardiac aneurysm was made based on the necropsy findings and microscopic lesions in the heart. We emphasize the importance of performing a necropsy and examining tissues histologically for the diagnosis of this rare condition. Ventricular aneurysms should be included in the differential diagnosis of cardiovascular disease in dogs. [ABSTRACT FROM AUTHOR]

Se presentan los resultados del estudio antropológico de dos individuos con la Deformidad de Madelung. Los restos óseos fueron localizados en dos tumbas medievales contiguas, en la necrópolis medieval de La Clínica (S. XII- S.XIII, Calahorra, La Rioja). La deformación de Madelung es una manifestación subyacente por haploinsuficiencia del gen SHOX, el cual se expresa a través de un hipocrecimiento disarmónico de la epífisis de los cúbitos y radios. Esta deformidad bilateral congénita, bien conocida en la actualidad, es un caso excepcional en contextos arqueológicos ya que se encuentra escasamente documentado. Este trabajo aporta el estudio morfométrico de dos casos emparentados de la alta edad media riojana y se analizan las respuestas óseas derivadas de dicha acondroplasia bajo un contexto clínico actualizado. ABSTRACTS: Here we present the results of the anthropological study of two individuals with Madelung’s deformity. The skeletal remains were located in two contiguous medieval tombs in the medieval cemetery of La Clínica (XII- XIII century, Calahorra, La Rioja). The Madelung deformity is an underlying manifestation by haploinsufficiency of the SHOX gene, which is expressed by a disharmonic hypogrowth of the ulnae and radii epiphysis. This congenital bilateral deformity, well known nowadays, is an exceptional case in archaeological contexts since it is scarcely documented. The following work provides a morphometric study of two related cases from the high middle ages of La Rioja and analyzes the bone responses derived from this achondroplasia in an updated clinical context.

Although congenital tracheal anomalies are not very common in veterinary medicine, they are still very important. Just as happens in human medicine, most possible variants are of very striking clinical presentation, due to the respiratory distress produced in patients. All require some type of surgical or minimally invasive correction in order to overcome the acute condition. Below is the case of a 10-month-old male feline that attended the emergency ward with acute inspiratory and expiratory dyspnea, who particularly presented marked inspiratory stridor. As a result of the patient's decease and subsequent necropsy and histopathology it was concluded that he presented segmental congenital tracheal stenosis due to absence of tracheal rings. [ABSTRACT FROM AUTHOR]

La tuberculosis es la enfermedad infecciosa por un solo agente que provoca más muertes en el mundo. A la fecha, no hay un registro de casos de embarazadas con tuberculosis en el mundo ni en Chile, y menos de los casos de tuberculosis congénita. El diagnóstico en ambas situaciones suele ser tardío y con malos resultados clínicos. Se presenta una revisión de la literatura con relación a tuberculosis perinatal y dos casos clínicos de los binomios madre e hijo afectados.

Introdução: A sífilis congênita é uma doença infectocontagiosa altamente prevenível. A relevância do parceiro na transmissão da doença é inegável, sendo a subestimação do seu tratamento um grande risco, com graves consequências fetais. Objetivo: Analisar a contribuição do parceiro na inadequação do tratamento da gestante e na incidência dos casos de sífilis congênita em Sergipe entre 2005 e 2022. Métodos: Realizou-se um estudo transversal, retrospectivo e descritivo, através da coleta de casos notificados de sífilis congênita do Sistema de Informação de Agravos de Notificação (SINAN). Resultados: Observou-se um aumento considerável do número de casos notificados de sífilis congênita em Sergipe nos últimos 17 anos, com o predomínio de parceiros não tratados (61,5%) em relação aos tratados (14,9%), descontando-se os 23,6% que tiveram essa informação ignorada. Destacam-se as variações apresentadas a partir de 2018, decorrentes da amenização implementada na notificação dos dados do parceiro, com uma média de 23,7% de informações ignoradas. Consequentemente, o diagnóstico de sífilis congênita recente foi encontrado em 83,7% dos recém-nascidos cujos pais não foram tratados, além de 50% dos casos de infecção tardia e a maioria dos casos de natimortos/aborto (92,6%) e óbitos pelo agravo (78,8%). Outrossim, a não inclusão do parceiro na assistência pré-natal (83%) contribuiu majoritariamente nos atrasos no diagnóstico da sífilis materna, sendo 90,1% no parto/curetagem, 76,7% após o parto, além de 77,2% delas que nem mesmo foram identificadas com a doença. Conclusão: Além do aumento de casos de sífilis congênita, houve predomínio de parceiros não tratados, coincidindo com as mudanças nos critérios de notificação em 2018, o que contribuiu para a maioria dos casos de atraso no diagnóstico materno, reinfecção e transmissão vertical. Assim, a abordagem do parceiro é imprescindível para garantia do tratamento e da interrupção da transmissão da doença.

A 20-year-old woman was diagnosed with mitral regurgitation due to an anterior mitral leaflet perforation. After completing the preoperative study no clear etiology was found, considering it to be of congenital origin.Surgical repair was performed with a patch of bovine pericardium and a ring annuloplasty. Serial echocardiograms taken postoperatively showed no regurgitation across the mitral valve. Resumen: Mujer de 20 años diagnosticada de insuficiencia mitral por perforación de velo mitral anterior. Tras realizar el estudio preoperatorio no se encontró una etiología clara, considerándose de origen congénito.La reparación quirúrgica se realizó con parche de pericardio bovino y anuloplastia con anillo. Los ecocardiogramas en serie realizados después de la cirugía no mostraron regurgitación residual.

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Os shunts portossistêmicos extra-hepáticos congênitos podem estar originados devido a falhas embriológicas e estão relacionadas ao desenvolvimento vascular abdominal normal. Merecem destaque devido a maior prevalência no surgimento de derivação vascular portossistêmicos e raças de pequeno porte a miniatura são os mais acometidos. Nessa revisão bibliográfica, compilamos criteriosamente artigos internacionais da área a respeito da utilização do anel constritor ameróide na cirurgia para a oclusão gradual dos desvios portossistêmicos extra-hepáticos congênitos únicos em cães. Nesse sentido, foi abordado aspectos quanto a fisiopatologia, etiopatogenia, sintomatologia clínica e aspectos técnicos no que tange a área cirúrgica. Conclui-se que o uso do anel constritor se torna um método seguro e altamente recomendado, resultando em baixas taxas de morbimortalidade e sobrevida pós-operatória prolongada em cães.

La hernia diafragmática congénita es un defecto anatómico que permite el paso de estructuras abdominales hacia la cavidad torácica, generando detección del crecimiento pulmonar y cardiaco; esta patología tiene una incidencia de 2,3 por cada 10.000 nacidos vivos, predominante en el sexo femenino, en los últimos años el índice de mortalidad en Venezuela se encontraba en un 70%; caracterizada por dificultad respiratoria aguda; puede estar asociado, o no, a anomalías cromosómicas o estructurales; su diagnóstico prenatal se realiza a las 20 semanas por ultrasonido; el tratamiento consta de la resolución quirúrgica del defecto. En este trabajo se buscó determinar la morbimortalidad de los pacientes pediátricos con hernia diafragmática congénita posterior a la intervención quirúrgica resolutiva durante el 2012-2022 en el Centro Médico Docente La Trinidad; mediante un estudio observacional, descriptivo y retrospectivo; fueron incluidos los pacientes cuyo diagnóstico prenatal, seguimiento y terapéutica fue en nuestro centro; se hizo un formulario para la recolección de datos a partir de historias clínicas. Como resultado, se determinó que una prevalencia de 10 pacientes con hernias diafragmáticas embrionarias en los últimos 10 años, el índice de mortalidad fue del 60%, en su mayoría presentaron hipertensión pulmonar, que tratada efectivamente con vasodilatadores; la corrección del defecto en el 50% de los pacientes fue mediante técnicas mínimamente invasivas, gracias a estas se observó una disminución en el tiempo intrahospitalario. En conclusión, es un estudio que aporta cifras poco documentadas en nuestro sistema de salud, permitiendo mejorar la terapéutica de esta patología, para una mayor sobrevida.

Objetivou-se neste trabalho descrever uma malformação congênita observada em neonato canino atendido em um Hospital Veterinário Escola. O feto apresentava alterações macroscópicas de gastrosquise e toracosquise. Devido ao grande defeito anatômico observado no neonato canino do presente estudo e as escassas informações na literatura de como proceder com essas malformações congênitas na medicina veterinária bem como a falha no tratamento de suporte neonatal, optou-se pela eutanásia do feto. Por se tratar de uma malformação congênita, a gastrosquise e toracosquise apresentam tratamento limitado, sugerindo a necessidade de estudos sobre o desenvolvimento embrionário, a eficiência de técnicas cirúrgicas aplicáveis e tratamento de suporte neonatal adequado, a fim de garantir um bom prognóstico para os pacientes portadores.

Copyright of Compendium of Veterinary Sciences / Compendio de Ciencias Veterinarias is the property of Facultad de Ciencias Veterinarias de la Universidad Nacional de Asuncion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: The kidneys are a pair of organs that maintain homeostasis, and perform hormonal and excretory functions; the functional unit of the kidney is the nephron. Approximately 2% of cats are born with some structural or functional anomaly, which occurs during fetal development. Unilateral renal agenesis is a rare congenital anomaly in felines, where the cat has only one kidney. This can lead to a series of dysfunctions, with clinical signs, especially when the contralateral organ does not adequately compensate, since there is more than one concomitant congenital disease like kidney dysplasia, which is the abnormal formation of the kidney structures. This study aimed to report the case of a kitten diagnosed with unilateral renal agenesis; the clinical signs, diagnosis, and treatment. Case: A 2-month-old mixed breed female kitten, weighing 0.5 kg, was attended in a veterinary clinic with emesis, hyporexia, hypodipsia, normuria, and diarrhea. Upon physical examination, dehydration, hyperthermia, and renomegaly by abdominal palpation were observed. Complementary examinations such as serum urea and creatinine estimation, abdominal ultrasound, and excretory urography, were requested, and the results include hemoglobin (9 g/dL), mean corpuscular volume (26%), normocytic normochromic anemia, urea (312 mg/dL), and creatinine (3.5 mg/dL). The abdominal ultrasound showed renomegaly on the left kidney and the absence of the right kidney. The above results and excretory urography help to confirm the diagnosis of unilateral renal agenesis and suggested renal dysplasia. The patient was hospitalized to stabilize her condition. The treatment is symptomatic and supportive and aims to increase the patient’s quality of life. Treatment with metoclopramide, erythropoietin, fluid therapy with ringer’s lactate solution, and renal therapeutic feed was prescribed. After 4 days of hospitalization and treatment, the serum creatinine was within normal parameters for the species and the animal showed no more clinical signs. She was discharged and was treatment continued at home. After 36 days, the patient returned for reevaluation: the tutor reported that the patient did not present with episodes of emesis, was active, with normodipsa and normuria, and via abdominal palpation, there was no renomegaly of the left kidney; serum creatinine and urea levels were below and within the reference values, respectively. Discussion: Unilateral renal agenesis is a rare congenital anomaly in small animals and is characterized by the absence of one of the kidneys; in felines, its etiopathogenesis remains unclear. When the clinical signs are present, these are similar to those of chronic kidney disease. The most frequent signs are weight loss, polyuria and polydipsia, hyporexia or anorexia, emesis, halitosis, gastroenteritis, and gastric ulcers; some of them were presented by the patient in this study. Serum urea and creatinine levels are important to evaluate if there are alterations in the remaining kidney, which was detected in the initial examination. The diagnosis is made through imaging tests such as ultrasonography and excretory urography, used in this case for diagnosis. The treatment is symptomatic and supportive and aims to increase the quality of life of the patient. An antiemetic should be prescribed for patients with emesis, and the most used are maropitant, metoclopramide, and ondansetron. The diet must be changed; to reduce azotemia, therapeutic meals that aid renal functions are recommended. Unilateral renal agenesis is a rare anomaly in small animals, which can cause damage to the animal. Understanding this damage is essential in determining of the conduct by the veterinarian. [ABSTRACT FROM AUTHOR]

Background: The congenital flexural deformity is common in cattle, often affecting the metacarpophalangeal joint of the thoracic limbs. The deformity may be mild, moderate, or severe, and the therapy depends on the limb’s degree of flexion and the affected joint. In severe deformities, tenotomy of the flexor tendons and desmotomy of the suspensor ligament is recommended. However, this surgical technique may not be sufficient to promote limb extension, and other interventions may be necessary. Thus, the purpose of this report is to describe a technique to correct severe flexural deformities of the metacarpophalangeal joint in calves. Case: A 3-month-old, female, Dutch-bred calf weighing 46 kg was referred for treatment of congenital flexural deformity. On attendance, the patient presented severe deformity in the right thoracic limb and mild in the left thoracic limb both at the height of the metacarpophalangeal joints. During palpation it was possible to notice that the flexor tendons were contracted in both limbs. Radiographic exams were performed to rule out the presence of other diseases, confirming the diagnosis of flexural deformity. The patient was referred to surgery to correct the anatomical anomaly. The animal was submitted to general anesthesia and placed in right lateral decubitus. In the left thoracic limb, an incision was made in the medial region of the metacarpal bone, the tissues were divulsioned until the superficial digital and deep digital flexor tendons were exposed; these structures were sectioned with a scalpel, and the limb was extended, returning to the standard anatomical position. In the right thoracic limb, the same procedure was performed, but during the limb extension test, we observed that the limb remained flexed, we then followed with a second incision and section of the deep digital flexor tendon in the palmar region at the middle phalanx of the lateral and medial digits, with this procedure, the limb extended further. Nevertheless, the procedure was not enough to solve the problem in the right thoracic limb, and the patient needed a second surgical intervention, in which we performed again tenotomy of the flexor tendons and desmotomy of the digital annular, crossed sesamoid, and interdigital phalangiosamoid ligaments, associated to the capsule opening of the capsule from the affected right metacarpophalangeal joint. After this surgery, the patient recovered to the normal anatomical position of the right thoracic limb. The procedures were efficient in achieving the normality of both affected limbs, and the patient recovered without postoperative complications. Discussion: In severe flexural deformities of the metacarpophalangeal joint in bovines, the fetlock’s flexor tendons and suspensory ligament are implicated in the limb contracture. For these cases the chosen treatment is surgery with sequential sectioning of the flexor tendons and the suspensory ligament until the extension of the flexed limb occurs. Although there are reports that confirm the efficacy of this technique, there are cases in which other anatomic structures are involved in the limb contracture. In addition, the desmotomy and tenotomy techniques are not enough to achieve the normality of the affected joint, with the limb remaining flexed, leading to euthanasia of the patient in some cases. In cattle, few reports demonstrate possible techniques for severe contractures of the metacarpophalangeal joint, requiring further studies and new techniques to achieve recovery of these patients. [ABSTRACT FROM AUTHOR]

RESUMOComunicação interventricular é caracterizada como uma cardiopatia congênita pouco diagnosticada. O presente trabalho objetivourelatar o caso de um cão diagnosticado com defeito no septo ventricular. Foi atendido na Clínica Veteriná-ria da UNINGÁ -Centro Universitário Ingá, em Maringá-PR, cão macho, raça Yorkshire com 8 meses de idade.Durante a anamnese,seu tutor relatou que o animal apresentava intolerância a exercícios e episódios de tosse intermitente. No exame físico observou-se auscultação em ritmo cardíaco regular com sopro sistólico discreto. Foram solicitados exames complementares como: avaliação hematológica e bioquímica, radiografia torácica em projeção ventro-dorsal e lá-tero-lateral,além de ecocardiograma.Após os resultados dos exames o animal foi diagnosticado com comunicação interventricular, que consiste em uma cardi-omiopatia congênita, caracterizada pela existência de um orifício entre o ventrí-culo esquerdo e o direito.O protocolo terapêutico foi instituído na tentativa de controle das manifestações clínicas, visando maior eficiência no débito cardíacoe controle de arritmias. Os fármacos prescritoscomo tratamento de suporte para o paciente foram furosemida (3,0 mg/kg)SID por 7 dias,utilizado para o controle da dispnéia leve e redução da pré-carga, maleato de enalapril(1,0 mg/kg)BID por 30 diasepasta com coenzima Q10 60mg SID por 20 dias. Após 25 dias, foi prescritopimobendan(0,3 mg/kg)BIDpor 30 dias. O animal retornou para acom-panhamento cinco meses após o diagnóstico da cardiopatiase apresentando assintomático,evidenciando a regressão dos sinais clínicos.

Se trata de un hombre de 46 años de edad, sin antecedentes de intervención quirúrgica, quién acudió al servicio de urgencias por presentar dolor abdominal tipo cólico, náuseas, vómito bilioso frecuente y ausencia de flatos y deposición. A la exploración física se encontró mucosas secas, abdomen distendido, ruidos hidroaéreos aumentados, hipersonoridad difusa a la percusión y ampolla rectal vacía al tacto rectal. La radiografía simple de abdomen en bipedestación, mostró la presencia de niveles hidroaéreos centrales en escalera y distensión de asas yeyunales e ileales (Figura 1).

Se describe brevemente los logros científicos del Dr. Luis Dao, resaltando el primer reporte mundial de transmisión congénita del Trypanosoma cruzi y de la enfermedad de Chagas, ocurrido en el estado Guárico, Venezuela.

El hiperinsulinismo congénito (HIC) es una enfermedad neuroendocrina con anomalías focales o difusas en el páncreas. Mientras que las formas difusas resistentes a los medicamentos requieren una pancreatectomía casi total o una farmacoterapia prolongada, el HIC focal podría ser tratado por resección quirúrgica dirigida. Por tanto, evaluamos la utilidad del 18F-DOPA PET/TC para identificar la forma pancreática focal. Diecinueve niños (11 niños y 8 niñas de 2 a 54 meses de edad) con signos clínicos de HIC neonatal y exámenes genéticos positivos fueron registrados en el estudio. Después de la administración intravenosa del 18F-DOPA, una primera PET y posteriormente otra PET/TC cubriendo longitudinalmente la región toracoabdominal fueron llevadas a cabo. Ambas adquisiciones fueron realizadas en modo dinámico para permitir la exclusión de imágenes con artefactos de movimiento. Los valores de absorción estandarizados fueron ajustados al peso corporal (SUV bw). El hallazgo fue considerado como focal cuando la proporción de SU V b w m a x entre la región sospechosa y el resto del páncreas fue mayor que 1,2. Las formas focales fueron registradas en 10/19 niños y 4 de ellos se sometieron a una resección quirúrgica con recuperación completa. La captación focal fue significativamente mayor que la captación en el tejido pancreático normal (p = 0,0059). Las formas focales y difusas del HIC no difieren significativamente en la captación del tejido pancreático normal. No encontramos ninguna ventaja en la medición de la relación SU V b w m e a n en comparación con la relación SU V b w m a x (p = 0,50). 18F-DOPA PET/TC es una herramienta útil para la localización de HIC focal y la planificación de un tratamiento quirúrgico. Congenital hyperinsulinism (CHI) is a neuroendocrine disease with focal or diffuse abnormalities in pancreas. While drug-resistant diffuse forms require near-total pancreatectomy or prolonged pharmacotherapy, focal CHI may be treated by targeted surgical resection. We evaluated the usefulness of 18F-DOPA PET/CT to identify the focal pancreatic form. Nineteen children (11 boys, 8 girls, aged 2–54 months) with clinical signs of neonatal CHI and positive genetic examinations were enrolled in the study. After i.v. administration of 18F-DOPA, early PET and late PET/CT acquisition covering one-bed length over thoraco-abdominal region were performed. Both acquisitions were done in dynamic mode to allow exclusion of frames with motion artefacts. Standardized uptake values were adjusted to bodyweight (SUV bw). The finding was considered as focal when the ratio of SU V b w m a x between the suspicious region and the rest of pancreas was greater than 1.2. Focal forms were recorded in 10/19 children and 4 of them underwent surgical resection with complete recovery. Focal uptake was significantly higher than the uptake in the normal pancreatic tissue (p = 0.0059). Focal and diffuse forms of CHI did not differ significantly in normal pancreatic tissue uptake. We found no advantage in the measurement of SU V b w m e a n ratio compared to SU V b w m a x ratio (p = 0.50). 18F-DOPA PET/CT is a useful tool for the localization of focal CHI and planning of surgical treatment. [ABSTRACT FROM AUTHOR]

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Congenital Dysplasia of Tibia (CDT), formerly called Congenital Pseudoarthrosis of Tibia, is an uncommon disease characterized by deformity in varus, antecurvatum, and often discrepancy of limb length. Epidemiologically, it is estimated that its incidence worldwide varies between 1: 140,000 and 1: 250,000 live births, it occurs most often in the first 5 years of life and sometimes between 5 and 10 years, but in all patients it takes place in the first decade of life. The etiology is not yet elucidated considering theories such as uterine trauma, fracture at birth, generalized metabolic disorders, and vascular malformations, it has even been evidenced a familiar character that has not been specified from the genetic origin. In the following case report, we describe a patient who was diagnosed and treated with monolateral external fixation in an Ecuadorian health center, obtaining satisfactory results with a little used surgical technique. [ABSTRACT FROM AUTHOR]

Copyright of Revista Academica Ciencia Animal is the property of Revista Academica Ciencia Animal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introducción: Los recién nacidos tienen una alta incidencia de deformidades del oído, causadas por las interacciones de una serie de factores. La ubicación, los síntomas clínicos, los hallazgos de imágenes y un alto índice de sospecha ayudan al diagnóstico de las malformaciones del oído. Las estructuras del oído medio y del externo proceden del primer y del segundo arcos branquiales. Como las mismas se encuentran relacionadas ya desde su origen, así también lo pueden estar sus alteraciones. Objetivo: El presente trabajo se realizó para conocer la frecuencia de las malformaciones congénitas del oído en nuestro medio y, además, con el objetivo de que sea una base para futuras investigaciones sobre el tema. Metodología: Estudio observacional descriptivo transverso, con muestreo no probabilístico de casos consecutivos, llevado a cabo en la Cátedra y Servicio de Otorrinolaringología de la Facultad de Ciencias Médicas, Universidad Nacional de Asunción, en junio de 2017. Se analizaron 5781 historias clínicas de pacientes que consultaron a la Unidad de Otología, entre enero 2006 a mayo 2017. Las variables exploradas fueron: edad (en años cumplidos), sexo (masculino, femenino), motivo de consulta y diagnóstico. Los datos fueron analizados utilizando estadística descriptiva. Resultados: Se encontró una frecuencia de 1,07% de malformaciones congénitas del oído externo y medio, lo que representa un total de 63 pacientes. De los 63 pacientes con malformaciones congénitas, el 52% era del sexo femenino (33 pacientes), con edades comprendidas entre 1 y 70 años (media: 26,42). El diagnóstico más prevalente fue el de fistula auris (33%). Los motivos de consultas más frecuentes fueron la tumoración cervical (32%) y la hipoacusia (25%). Discusión: Resulta importante tanto para el pediatra como para el otorrinolaringólogo lograr identificar precozmente las malformaciones congénitas del oído, para así poder instaurar terapéuticas oportunas y acertadas, que mejoren ampliamente la calidad de vida de los pacientes. Palabras clave: Malformaciones congénitas; Oído externo; Oído medio

Introducción La pseudoartrosis congénita de antebrazo es una entidad clínica rara que se asocia a habitualmente Neurofibromatosis tipo 1. La lesión de ambos huesos del antebrazo asociada con luxación de cabeza de radio es extremadamente inusual. Material y métodos Se presenta el caso de una niña de 13 años de edad con Neurofibromatosis tipo 1 y pseudoartrosis de ambos huesos del antebrazo asociada a luxación de la cabeza de radio. Se le realizó escisión amplia de la pseudoartrosis y reconstrucción mediante antebrazo de un hueso con placa. La primer cirugía fracasó y requirió una revisión con retiro del implante, injerto óseo autólogo y fijación con enclavado endomedular. Luego de la segunda cirugía, la niña presenta un antebrazo de un hueso estable, con un acortamiento de 7cms. En el último control, 4 años después, la paciente se encuentra asintomática y utiliza el miembro superior con una mínima limitación de la flexo-extensión de muñeca. Conclusión La reconstrucción mediante antebrazo de un hueso es una opción razonable para la pseudoartrosis de ambos huesos del antebrazo con luxación de cabeza radial en niños. El procedimiento de salvataje, produce un miembro superior estable, con una función satisfactoria de muñeca y codo.

Introduction: Congenital dislocation of the Radial head is a condition that has been described in a few cases in the international literature, the anterior and lateral dislocation were the less frequent forms of presentation with 15% of cases, each, and the posterior dislocation the most frequent with 70% of the total cases reported. However, this pathology is considered the most frequent congenital pathology of the elbow in children. The present study describes the case of a patient with congenital dislocation of elbow anterior variety and another case with dislocation lateral variety, both diagnosed at an early age, in which it has been decided for conservative management and an annual follow-up. A bibliographic review of the subject is also carried out. Discussion: The congenital elbow dislocation usually has a benign evolution, being painless and not very limiting for the patient, so it can be managed conservatively. Pain and limited movement are indicative of surgical treatment. There are multiple surgical treatments for this entity, however they are not widely accepted due to the complications and poor results presented by them. [ABSTRACT FROM AUTHOR]

Introducción: la malaria es una enfermedad parasitemia endémica en el norte del Perú tanto a nivel de la costa como de la selva. El conocimiento sobre la incidencia de malaria en gestantes, de malaria congénita y algunas variables asociadas, es aún escaso.Objetivo: determinar la incidencia acumulada de malaria en gestantes en un periodo de 15 meses en el Hospital Regional de Loreto. Determinar la incidencia de malaria congénita. Material y método: estudio epidemiológico analítico que busca determinar la asociación entre malaria en gestantes con: bajo peso al nacer, prematuridad, caso anterior de malaria, primigesta, edad menor a 21 años y fiebre con malaria utilizando inferencia estadística, Odds Ratio con intervalos de confianza, valor de chi y valor de p. Resultados: la incidencia acumulada de malaria en gestantes seguidas durante 15 meses fue de 15,3 %. No se encontraron casos de malaria congénita. Se encuentra asociación entre malaria en gestantes y bajo peso al nacer (p = 0,0001855), prematuridad (p = 0,0214822), caso anterior de malaria (p = 0,0000281). No se encuentra asociación con condición de primigesta ni gestante menor de 21 años. Fiebre no es predictor clínico de malaria en gestantes. Otros hallazgos importantes son la asociación entre malaria por P. falciparum y óbitos durante gestación (p= 0,0196497) y que los promedios de hematocrito y hemoglobina son menores en gestantes con malaria comparados con gestantes sin malaria. Conclusiones: este estudio de malaria en gestantes encuentra una mayor asociación con bajo peso al nacer y prematuridad. Los caso de Malaria falciparum se asociaron con óbito fetal, no hubo casos congénitos.

La malformación de la vena de Galeno a pesar de ser una patología poco frecuente representa un desafío clínico, por lo que debe ser detectada de forma temprana y manejada por un grupo multidisciplinario, iniciando desde los médicos generales quienes son los encargados de realizar el reconocimiento durante los controles prenatales, y así continuar el manejo de la mano de perinatólogos, pediatras, neonatólogos y radiólogos intervencionistas, todos ellos encargados de supervisar la evolución del paciente y dar tratamiento oportuno para mejorar el pronóstico de vida. A continuación, se presenta un caso clínico cuyo diagnóstico prenatal y manejo medico logró disminuir las complicaciones y comorbilidades resultantes, y así garantizar su preparación para una intervención endovascular posterior.

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La aplasia cutánea congénita es un defecto raro, caracterizado por falta de la epidermis, la dermis, y a veces del tejido celular subcutáneo en una o más áreas circunscritas, principalmente, a la piel del cuero cabelludo, aunque otras zonas pueden estar afectadas.La causa es desconocida. Las lesiones se consideran no inflamatorias y suelen estar bien definidas, pueden ser circulares, ovales o estrelladas y su diámetro oscila entre 0,5 y 10 cm. El tratamiento ha sido controversial.

Congenital alopecia universalis is one of the rarest anomaly which involves skin and appendages. The inheritance pattern can be autosomal recessive, X-linked recessive, or autosomal dominant. However, the most common is autosomal recessive form and it is the most severe phenotype. Twenty-nail dystrophy refers to the condition in which all the twenty nails are affected in the form of excessive ridging and nail plate roughness leading to unsightly lustureless nails. We report a rare case of two siblings with alopecia universalis congenita with twenty-nail dystrophy. To the best of our knowledge, this case is the first case to be reported with such association in both siblings. This case reports highlights the fact that alopecia areata is an autoimmune disease with a genetic predisposition as in our case both siblings had alopecia universalis and nail dystrophy. There was no evidence of any other ectodermal dyplasia and had normal teeth and seat glands. The skin biopsy ruled out congenital atrichia and was suggestive of alopecia areata. [ABSTRACT FROM AUTHOR]

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JUSTIFICATIVA E OBJETIVOS: O feto com diagnóstico pré-natal de massa cervical, ou qualquer outra doença que obstrua as vias aéreas, não deve ser abordado de forma convencional por apresentar dois desafios ao médico assistente logo após o parto: o tempo limitado para se estabelecer o acesso a vias aéreas potencialmente difíceis e a ausência de anestesia do neonato caso seja necessária instrumentação das vias aéreas. O procedimento EXIT (ex utero intrapartum treatment - EXIT procedure) consiste em manter a circulação fetoplacentária durante a cesariana até que as vias aéreas do feto estejam asseguradas. RELATO DOS CASOS: Mulher de 37 anos, G3P2, 38 semanas de gestação, apresentando polidrâmnio e feto com grande massa cervical diagnosticada por ultrassonografia pré-natal. A cesariana foi realizada com procedimento EXIT para possibilitar o acesso seguro das vias aéreas. Após a histerotomia, o feto foi intubado sob laringoscopia direta. O concepto foi transferido imediatamente para outra sala de cirurgia, onde foi realizada a ressecção do tumor cervical e a traqueostomia, ambos com sucesso. Mulher de 27 anos, G3P1A1, idade gestacional de 32 semanas, cujo feto tinha diagnóstico pré-natal de grande tumor em região oral. O tumor obstruía as vias aéreas do feto e foi programada traqueostomia com técnica EXIT, no entanto, foi possível intubar o recém-nascido sob laringoscopia direta, sendo então submetido à ressecção do tumor e encaminhado à UTI neonatal. CONCLUSÕES: Os relatos descrevem o uso bem sucedido de anestesia geral com isoflurano para a realização de cesariana seguida de procedimento EXIT em fetos com tumores obstruindo as vias aéreas.