First occurrence of Arnold Chiari type II malformation and associated abnormalities in a Gir calf produced in vitro from Brazil - case report / [Primeira ocorrência de malformação de Arnold Chiari tipo II e anormalidades associadas em uma bezerra Gir de produção in vitro no Brasil - relato de caso]

This study characterized the clinical, radiological, ultrasound, and necroscopic findings of a case of Arnold-Chiari type II malformation in a Gir breed calf from Brazil. The animal was hospitalized at sixty days of age, in permanent sternal recumbency, cutaneous appendix at the 4th lumbar vertebra and kyphoscoliosis of the caudal and lumbosacral thoracic spine. Radiographic examination of the spine and skull revealed spina bifida and suspected occipital hypoplasia. Upon examination of myelography with an injection of lumbar and atlantooccipital contrast, it was possible to visualize the meningocele at the 4th lumbar vertebra region and findings at the rhombencephalon level of increased regional pressure with failure to fill the contrast in the posterior fossa, in the presence of clear demarcation of the circumvolutions of the cerebral cortex and the subarachnoid space of the cervical spinal cord. Ultrasonographic examination of the cerebellum showed an insinuation of the cerebellar worm through the foramen magnum. The animal did not show changes in complete blood count, biochemical series, and cerebrospinal fluid and was negative for Pestivirus. There was a worsening of the clinical conditions and the animal died. This malformation of unknown etiology must be studied as a differential diagnosis of the nervous system disorders.(AU)

Este estudo caracterizou os achados clínicos, radiológicos, ultrassonográficos e necroscópicos de um caso de malformação de Arnold-Chiari tipo II em uma bezerra Gir no Brasil. O animal foi hospilatizado aos 60 dias de idade, apresentando decúbito esternal permanente, apêndice cutâneo na altura da quarta vértebra lombar e cifoescoliose da coluna vertebral torácica caudal e lombossacra. Ao exame radiográfico da coluna e do crânio, foram observadas espinha bífida e suspeita de hipoplasia occipital. Ao exame de mielografia com injeção de contraste lombar e atlanto-occipital, foi possivel visualizar a meningocele na altura da quarta vértebra lombar e achados em nível rombencefálico de aumento da pressão regional com falha de preenchimento do contraste na fossa posterior, na presença de nítida demarcação das circunvoluções do córtex cerebral e do espaço subaracnoide da medula espinhal cervical. Ao exame ultrassonográfico do cerebelo, foi observada insinuação do verme cerebelar através do forame magno. O animal não apresentou alterações em hemograma completo, série bioquímica e fluido cérebro-espinhal e foi negativo para Pestivirus. Houve uma piora do quadro clínico e o animal morreu. Essa malformação de etiologia desconhecida deve ser estudada como um diagnóstico diferencial.(AU)

Hipoparatiroidismo y calcificaciones cerebrales: reporte de caso / Hypoparathyroidism and brain calcifications: a case report

Introducción. El hipoparatiroidismo es una enfermedad caracterizada por la ausencia o concentraciones inadecuadamente bajas de hormona paratiroidea (PTH), que conduce a hipocalcemia, hiperfosfatemia y excreción fraccional elevada de calcio en la orina. Las calcificaciones del sistema nervioso central son un hallazgo frecuente en estos pacientes. Caso clínico. Mujer de 56 años con antecedente de hipotiroidismo, que ingresó por un cuadro de 6 días de evolución caracterizado por astenia, parestesias periorales y movimientos anormales de manos y pies. Las pruebas de laboratorio demostraron hipocalcemia, hiperfosfatemia y niveles bajos de hormona paratiroidea. Se realizó una tomografía computarizada de cráneo que mostró áreas bilaterales y simétricas de calcificaciones en hemisferios cerebelosos, ganglios basales y corona radiata. No se evidenciaron trastornos en el metabolismo del cobre y hierro. Se estableció el diagnóstico del síndrome de Fahr secundario a hipoparatiroidismo y se inició tratamiento con suplementos de calcio y vitamina D con evolución satisfactoria. Discusión. El síndrome de Fahr es un trastorno neurológico caracterizado por el depósito anormal de calcio en áreas del cerebro que controlan la actividad motora. Se asocia a varias enfermedades, especialmente, hipoparatiroidismo. La suplementación con calcio y vitamina D con el objetivo de normalizar los niveles plasmáticos de estos cationes es el tratamiento convencional. (AU)

Introduction. Hypoparathyroidism is a disease characterized by absence or inappropriately low concentrations of circulating parathyroid hormone, leading to hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. Central nervous system calcifications are a common finding in these patients. Case report. 56-year-old woman with a history of hypothyroidism who was admitted for a 6-day course of illness characterized by asthenia, perioral paresthesias, and abnormal movements of the hands and feet. Laboratory tests showed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. A cranial computed tomography was performed. It showed bilateral and symmetrical areas of calcifications in the cerebellar hemispheres, basal ganglia, and radiata crown. No disorders of copper or iron metabolism were evident. The diagnosis of Fahr syndrome secondary to hypoparathyroidism was established and treatment with calcium and vitamin D supplements was started with satisfactory evolution. Discussion. Fahr's syndrome is a neurological disorder associated with abnormal calcium deposition in areas of the brain that control motor activity. It is associated with various diseases, especially hypoparathyroidism. The conventional treatment is supplementation with calcium and vitamin D, with the aim of normalizing their plasma levels. (AU)

Estado actual y perspectivas de la imagen molecular PET en México / Current status and perspectives of PET molecular imaging in Mexico

Resumen La tomografía por emisión de positrones (PET) es una técnica de diagnóstico médico mediante la cual se obtienen imágenes funcionales a partir de registrar la biodistribución espacio-temporal de radiofármacos específicos dirigidos a blancos moleculares específicos, proveyendo información bioquímica a nivel molecular. A principios de la primera década de este siglo XXI, la Facultad de Medicina de la Universidad Nacional Autónoma de México implementó esta técnica de diagnóstico en México, convirtiéndose en pionera en aplicaciones PET en el país y Latinoamérica. Casi dos décadas después, la PET se ha convertido en una herramienta esencial en la clínica médica. En este artículo se describen los antecedentes, el estado actual, las perspectivas de la imagen molecular PET en México y el impacto que ha tenido en el manejo de pacientes con enfermedades oncológicas, neurológicas y cardiológicas.

Abstract Positron-emission tomography (PET) is a medical diagnostic technique by means of which functional images are obtained by recording the spatio-temporal biodistribution of specific radiopharmaceuticals targeted at specific molecular objectives, which provides biochemical information at the molecular level. Early in the first decade of this 21st century, the Faculty of Medicine of the National Autonomous University of Mexico acquired the technology to implement this diagnostic technique in Mexico, thus becoming a pioneer in PET applications in the country and in Latin America. Almost two decades after its implementation in Mexico, PET has become an essential tool in medical clinics. This article describes the background, current state and perspectives of PET molecular imaging in Mexico, and the impact it has had on the management of patients with oncological, neurological and heart diseases.

Protocolo ultrasonográfico enfocado en cirugía cardiaca posquirúrgica CCROSS (Cardiac, Cerebral, Renal, Optic nerve, lung ultraSound Study) / Ultrasonographic protocol focused on post cardiac surgery CCROSS (Cardiac, Cerebral, Renal, Optic nerve, lung ultraSound Study)

Resumen El uso de ecocardiografía enfocada es de gran utilidad en la valoración, tratamiento y seguimiento del paciente en estado crítico. Es, junto con la clínica y el estetoscopio, una herramienta que complementa el actuar del médico ante las diversas etiologías que determinan un estado de choque o aumentan la morbimortalidad, especialmente en pacientes posquirúrgicos de cirugía cardíaca, en quienes no se tiene algoritmos de manejo emergente en el posquirúrgico. Ante tal situación, en el Instituto Nacional de Cardiología Ignacio Chávez se ha realizado y propuesto un algoritmo de manejo en los pacientes posquirúrgicos cardíacos: mediante ultrasonografía enfocada, abarcando ecoscopia transtorácica, ultrasonido pulmonar, ultrasonido del nervio óptico y renal mediante la valoración de índices resistivos renales. Diversas sociedades han creado sus protocolos de abordaje en pacientes en estado crítico, por lo que en el Instituto, específicamente en la terapia intensiva cardiovascular, ha creado el protocolo CCROSS (Cardiac, Cerebral, Renal, Optic nerve, lung ultraSound Study) para el abordaje inicial de estos pacientes y se encuentra en marcha actualmente un estudio para su validación, reproducibilidad y eficacia.

Abstract The use of echocardiography is very useful in the evaluation, treatment and follow-up of the patient in critical condition. Along with clinic and the stethoscope, it is a tool that complements the act of the physician faced with the diversity of etiologies that determine the state of shock and increase morbidity and mortality, especially in post cardiac surgery patients, in whom there are no management emergency postsurgical algorithms. In view of this situation, at the National Institute of Cardiology Ignacio Chávez, a management algorithm has been made and improved in cardiac postsurgical patients: through focused ultrasonography, including transthoracic echography, pulmonary ultrasound, optic nerve ultrasound, and renal ultrasound by evaluating renal resistive indices. Several societies have created their protocols for addressing patients in critical condition, so in the Institute, specifically in cardiovascular intensive therapy, has created the CCROSS protocol (Cardiac, Cerebral, Renal, Optic nerve, lung UltraSound Study) for the initial approach of these patients, and it is being carried out a study for its validation, reproducibility and efficacy.

Diagnóstico prenatal y manejo perinatal en enfermedades raras / Prenatal diagnosis and management of rare diseases

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.

Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.

Síndromes neurológicas durante a gestação / Neurological syndromes during pregnancy

A ocorrência de sintomas neurológicos agudos em gestantes ou puérperas não é incomum. Podem ser causados tanto pela exacerbação de uma doença neurológica pré-existentes quanto por doenças relacionadas com a própria gravidez. O diagnóstico preciso é essencial para o tratamento adequado. Sendo assim, é recomentado acompanhamento multidisciplinar antes, durante e após a gravidez. O objetivo do presente estudo é realizar uma revisão da literatura sobre as principais síndromes neurológicas durante a gravidez, descrevê-las e elucidar como é feito o diagnóstico adequado. Para isso, foi realizada uma busca de artigos na base de dados do Medline, via Pubmed, sendo selecionados artigos publicados nos últimos 10 anos, nas línguas inglesa ou portuguesa. Desse modo, o presente estudo demonstra a importância de saber reconhecer e tratar adequadamente cada uma dessas síndromes, bem como de um acompanhamento em centro de referência, uma vez que as síndromes neurológicas estão relacionadas com morbidade e mortalidade materna.(AU)

The occurrence of acute neurological symptoms in pregnant women and during puerperium is not uncommon. This symptoms can be caused both by the exacerbation of a preexisting neurological disease and illnesses related to the pregnancy itself. The accurate diagnosis is essential for proper treatment. Therefore, it is recommended that a multidisciplinary monitoring before, during and after pregnancy. The aim of this study is to conduct a review of the literature on the main neurological syndromes during pregnancy, describe them and elucidate how is made the proper diagnosis. For this, a search for articles on Medline database, via Pubmed was performed, being selected articles published in the last 10 years, in English or Portuguese languages. Thus, the present study demonstrates the importance of knowing recognize and properly handle each of these syndromes, as well as a follow-up in tertiary centers, once the neurologicalsyndromes are related to maternal morbidity and mortality.(AU)

Utilidad del PET--FDG en patología neuropediatrica / Usefulness of PET--FDG in neuropediatric pathology

Due to the recent incorporation of positron technology (PET) it appears interesting to review the present indications of fluor-deoxyglucose (FDG) in neuropediatric pathology. The main indication is in the evaluation of refractory epilepsy mainly in cases with negative magnetic resonance or discordance with electroencephalography Some uses in tumors are also discussed, such as tumor characterization and differentiation between radionecrosis and recurrence. The experience between years 2003 and 2007 at the Santiago Military Hospital, using FDG in 66 children and adolescents cases with diverse neurological indications was reviewed.

La incorporación relativamente reciente en nuestro medio de la tecnología de positrones (PET) nos motivó a revisar el uso actual de la flúor-deoxiglucosa (FDG) en neuropediatría. La principal indicación es la evaluación de epilepsia refractaria, especialmente en casos de resonancia magnética negativa o discordancia de ésta con los hallazgos electroencefalográficos. Algunas utilizaciones en tumores también son discutidas, como la caracterización tumoralyla diferenciación entre radionecrosis y recurrencia. Se revisa la casuística del Centro PET del Hospital Militar de Santiago entre los años 2003 y 2007, que comprende 66 casos de niños y adolescentes estudiados con metabolismo glucídico con diversas patologías neurológicas.