Malformación congénita de la vía aérea pulmonar o malformación adenomatoidea quística congénita: Serie clínica de 16 pacientes / Congenital pulmonary airway malformation or congenital cystic adenomatoid malformation

Objective: To describe 16 patients treated for a congenital pulmonary anomaly named congenital pulmonary airway malformation (CPAM) or congenital cystic adenomatoid malformation (CCAM) in Roberto del Río children S Hospital. Methods: We retrospectively analyzed the medical records of patienes who had had surgery for CPAM/CCAM from January 2000 to July 2014. Results: We found 16 cases, 9 of them were males. Nine had surgery within the first year of life (5 of them within 3 weeks of life). According to Stocker 's classification CPAM/CCAM was type 1 in 9 patients, and type 2 in 7. Diagnosis was based on antenatal ultrasonography s (n = 10), persistent abnormalities in Chest X-Ray (n = 4), recurrent pneumonia (n = 1) and incidental radiological findings (n = 1). Computed Tomography (CT) was performed in 13 patients, CT angiography in 2 and only chest x-ray in one. The lesions were located in right upper lobe (3), right middle lobe (2), right lower lobe (4), left upper lobe (4) and left lower lobe (3). One patient had pectus excavatum and another one had ventricuar septal defect. They all had open thoracotomy with lobectomy of the affected area. Postoperatively was uneventful except for transient lobar atelectasis in 2 patients. There was no mortality. Conclusions: We emphasize the early diagnosis and good outcome of our patients treated which this disease. Our findings are consistent with those that has been reported in the literature.

Objetivo: Describir los pacientes tratados por malformación congénita de la vía aérea pulmonar (MCVAP) o malformación adenomatoidea quística congénita (MAQC) en el Hospital de niños Roberto del Río desde el año 2000 hasta el segundo semestre de 2014. Métodos: Revisión retrospectiva de fichas clínicas. Resultados: 16pacientes, 9 hombres. Se operaron antes del año de vida 9 pacientes (5 de ellos antes de las 3 semanas de vida). Tipo de MCVAP (según clasificación de Stocker) tipo 1 fue 9/16 y tipo 2 fueron 7/16. La sospecha diagnóstica fue en base a diagnóstico prenatal 10/16, imagen radiológica persistente 4/16, neumonías repetidas 1/16 y hallazgo radiológico 1/16. Estudio imagenológico: Tomografia computada (TC) 13/16, Angio-TC 2/16y radiografía de tórax 1/16. Ubicación: lóbulo superior derecho 3/16, lóbulo medio 2/16, lóbulo inferior derecho 4/16, lóbulo superior izquierdo 4/16, lóbulo inferior izquierdo 3/16. Comorbilidad: ninguna 14/16, pectus excavatum 1/16, comunicación interventricular 1/16. Tratamiento quirúrgico: en todos los pacientes se realizó lobectomía total del lóbulo afectado por vía abierta. Evolución postoperatoria: Buena 14/16, atelectasia 2/16. No se registró mortalidad. Conclusiones: Se destaca el diagnóstico precoz y buena evolución de nuestros pacientes concordantes con la literatura.

Secuestro pulmonar: serie clínica de 16 pacientes / Pulmonary sequestration: clinical report of 16 patients

Objetivo: Describir los hallazgos clínicos de pacientes tratados por secuestro pulmonar en el Hospital de Niños Roberto del Río, entre los años 2000 y 2012. Métodos: Estudio descriptivo retrospectivo. Se revisaron las fichas clínicas de todos los pacientes atendidos en el Hospital entre el año 2000 y 2012 con diagnóstico de secuestro pulmonar confirmado por anatomía patológica. Resultados: Se registraron 16pacientes, 8 niños y 8 niñas. Del total 9 fueron secuestros extralobares y 7 intralobares. La sospecha diagnóstica fue por imagen de neumonía persistente en el 44 por ciento de los casos, distrés respiratorio neonatal en el 25 por ciento, ecografía antenatal en el 19 por ciento y neumonía repetida en el 12 por ciento. El 75 por ciento de los secuestros estaba ubicado en el lóbulo inferior izquierdo, el 19 por ciento en lóbulo inferior derecho y el 6 por ciento en lóbulo superior derecho. La técnica quirúrgica de elección fue la toracotomía abierta. El 56 por ciento de los pacientes se operó antes del año de vida (31,5 por ciento antes de las 2 semanas de vida). La evolución postoperatoria fue buena en el 69 por ciento de los casos, mientras que un 12,5 por ciento presentó atelectasia, 12,5 por ciento fístula broncopleural y 6 por ciento neumotórax residual. La mediana de estadía hospitalaria fue de 9 días. No se registró mortalidad. Conclusiones: Se presenta la experiencia de esta patología en el Hospital Roberto del Río enfatizándose la importancia de la sospecha diagnóstica.

Objective: To describe our experience with sixteen children treated for pulmonary sequestration at the Children 's Hospital Roberto del Rio, between 2000 and 2012. Method: We reviewed retrospectively the clinical charts of all those patients up to 15 years old, who were treated for pathologically proven pulmonary sequestration in our hospital, between 2000 and 2012. Results: Sixteen patients were recorded, 8 boys and 8 girls that were diagnosed and/or treated between the newborn period and 14 years old. Nine of them had extralobar sequestration and 7 intralobar. The diagnosis was suspected for persisting pneumonia in 44%, neonatal respiratory distress in 25%, prenatal ultrasound in 19%, and recurrent pneumonia in 12%. Seventy-five percent of sequestrations were located in the left lower lobe, 19% in the right lower lobe and 6% in the right upper lobe and all of them were operated via thoracotomy. Fifty-six percent underwent surgery before one year of age (31.5% before 2 weeks of life) and 69% of patients did well postoperatively. Postoperative atelectasis were detected in 12.5%, bronchopleural fistula in 12.5% and residual pneumothorax in 6%. The average hospital stay was 9 days and no mortality was registered. Conclusions: Our experience is similar to the previously reported series and emphasizes the importance of early diagnosis in the treatment of pulmonary sequestration in children.

Synaptic defects associated with s-inclusion body myositis are prevented by copper.

Sporadic-inclusion body myositis (s-IBM) is the most common skeletal muscle disorder to afflict the elderly, and is clinically characterized by skeletal muscle degeneration. Its progressive course leads to muscle weakness and wasting, resulting in severe disability. The exact pathogenesis of this disease is unknown and no effective treatment has yet been found. An intriguing aspect of s-IBM is that it shares several molecular abnormalities with Alzheimer's disease, including the accumulation of amyloid-ß-peptide (Aß). Both disorders affect homeostasis of the cytotoxic fragment Aß(1-42) during aging, but they are clinically distinct diseases. The use of animals that mimic some characteristics of a disease has become important in the search to elucidate the molecular mechanisms underlying the pathogenesis. With the aim of analyzing Aß-induced pathology and evaluating the consequences of modulating Aß aggregation, we used Caenorhabditis elegans that express the Aß human peptide in muscle cells as a model of s-IBM. Previous studies indicate that copper treatment increases the number and size of amyloid deposits in muscle cells, and is able to ameliorate the motility impairments in Aß transgenic C. elegans. Our recent studies show that neuromuscular synaptic transmission is defective in animals that express the Aß-peptide and suggest a specific defect at the nicotine acetylcholine receptors level. Biochemical analyses show that copper treatment increases the number of amyloid deposits but decreases Aß-oligomers. Copper treatment improves motility, synaptic structure and function. Our results suggest that Aß-oligomers are the toxic Aß species that trigger neuromuscular junction dysfunction.

Diagnóstico diferencial y manejo del escroto agudo en niños / Differential diagnosis and management of the acute scrotum in children

Acute scrotum is a common entity found in pediatric emergency rooms all over the world. This is a syndrome in which fast and accurate diagnosis is vital to perform an effective treatment of the underlying disease. Testicular torsion is the first diagnosis that has to be discarded. Torsion of appendix testis and epididymitis or orchitis must also be considered. If clinical signs are compatible with testicular torsion, and especially if the condition has not passed the six hours threshold, surgical exploration has to be perform at once. Radiological tests cannot delaysurgical exploration. Detorsion must be achieved as soon as possible to prevent irreversible ischemia and necrosis of the testicle that could lead to an orchiectomy. Once the torsion is relieved, the testicle must be placed in warm, moist sponges to test for adequate perfusion. If the testicle has acceptable blood supply, both testicles have to be fixed to prevent similar events in the future. If health providers are familiarized with the clinical presentation of these conditions, testicular torsion and other causes of acute scrotum could be diagnosed and treated rapidly and therefore important complications, such as fertility impairment, could be prevented.

Complicaciones asociadas al uso de catéteres Hickmann / Complications associated to Hickmann catheter use

Entre enero de 1994 y junio de 1996 se colocaron en el Servicio de Pediatría del Hospital San Juan de Dios, 55 catéteres Hickmann en 53 niños, con edades de 4 meses a 16 años 6 meses. De ellos, 39 eran portadores de leucemia, 9 de linfoma, 3 de tumores sólidos, 1 de intestino corto y 1 de anemia aplástica. Se colocaron catéteres 4, 2,6,6 ó 9,6 french acorde a la edad y peso del paciente. Se usaron para administración de quimioterapia, nutrición parenteral, antibióticos, hemoderivados y toma de exámenes. En 12.605 días de uso, hubo una complicación cada 233,4 días y que correspondieron a 15 bacteremias, 9 catéteres migrados, 6 obstrucciones, 13 infecciones del sitio de salida, 2 infecciones de herida operatoria, 7 infecciones tardías por granuloma del cuff, 1 ruptura del catéter y 1 episodio de edema de la extremidad. Al finalizar el estudio se habían perdido 7 catéteres en forma accidental, se habían retirado 4 catéteres por fin de tratamiento, 6 por complicaciones, 7 por muerte del paciente y 31 continuaban en usoEntre enero de 1994 y junio de 1996 se colocaron en el Servicio de Pediatría del Hospital San Juan de Dios, 55 catéteres Hickmann en 53 niños, con edades de 4 meses a 16 años 6 meses. De ellos, 39 eran portadores de leucemia, 9 de linfoma, 3 de tumores sólidos, 1 de intestino corto y 1 de anemia aplástica. Se colocaron catéteres 4, 2,6,6 ó 9,6 french acorde a la edad y peso del paciente. Se usaron para administración de quimioterapia, nutrición parenteral, antibióticos, hemoderivados y toma de exámenes. En 12.605 días de uso, hubo una complicación cada 233,4 días y que correspondieron a 15 bacteremias, 9 catéteres migrados, 6 obstrucciones, 13 infecciones del sitio de salida, 2 infecciones de herida operatoria, 7 infecciones tardías por granuloma del cuff, 1 ruptura del catéter y 1 episodio de edema de la extremidad. Al finalizar el estudio se habían perdido 7 catéteres en forma accidental, se habían retirado 4 catéteres por fin de tratamiento, 6 por complicaciones, 7 por muerte del paciente y 31 continuaban en uso

Peripheral binding site is involved in the neurotrophic activity of acetylcholinesterase.

Acetylcholinesterase (AChE) catalyses the hydrolysis of the neurotransmitter acetylcholine and it has been implicated in several non-cholinergic actions, including neurite outgrowth and amyloid formation. We have studied the trophic function of brain AChE on neuronal cell metabolism and proliferation as well as the enzyme domain involved in such effects. Low AChE concentrations (0.1-2.5 nM) stimulated neurite outgrowth and induced cell proliferation as measured by MTT reduction and [3H]thymidine incorporation. The action of AChE was not affected by edrophonium and tacrine both active site inhibitors, but it was abolished by propidium and gallamine, two peripheral anionic binding site (PAS) ligands. We conclude that the PAS domain of AChE is involved in the neurotrophic activity of the enzyme.

Toxic effects of acetylcholinesterase on neuronal and glial-like cells in vitro.

Acetylcholinesterase (AChE), the enzyme involved in the hydrolysis of the neurotransmitter acetylcholine, has been implicated in non-cholinergic actions which may play a role in neurodegenerative diseases such as Alzheimer's disease. To study the potential cytotoxicity of brain AChE, the effects of affinity purified AChE were analyzed on neuronal (Neuro 2a) and glial-like (B12) cells. LDH release and MTT reduction assays showed that AChE was toxic; the toxicity was dependent on the enzyme concentration, time of incubation and cellular density. The toxic effect of AChE was not related to its catalytic activity, since the anti-cholinesterase drug BW284C51 and heat inactivation were unable to block the effects of the enzyme. When cells were incubated at 4 degrees C, toxicity was completely blocked, in contrast to cells incubated at 37 degrees C. The presence of serum in the culture medium inhibited the toxic effects of AChE. Cytoplasmic shrinkage, condensation and fragmentation of nucleus as well as DNA strand breaks detected with the TUNEL technique indicated that apoptotic cell death is involved in the effect of AChE. Considering that we have previously shown that AChE promotes the assembly of beta-amyloid peptide into neurotoxic amyloid fibrils, it is conceivable that the neurotoxicity of AChE shown here may play a role in the neuronal degeneration observed in Alzheimer's disease.

A major portion of synaptic basal lamina acetylcholinesterase is detached by high salt- and heparin-containing buffers from rat diaphragm muscle and Torpedo electric organ.

Collagen-tailed asymmetric acetylcholinesterase (AChE) forms are believed to be anchored to the synaptic basal lamina via electrostatic interactions involving proteoglycans. However, it was recently found that in avian and rat muscles, high ionic strength or polyanionic buffers could not detach AChE from cell-surface clusters and that these buffers solubilized intracellular non-junctional asymmetric AChE rather than synaptic forms of the enzyme. In the present study, asymmetric AChE forms were specifically solubilized by ionic buffers from synaptic basal lamina-enriched fractions, largely devoid of intracellular material, obtained from the electric organ of Torpedo californica and the end plate regions of rat diaphragm muscle. Furthermore, foci of AChE activity were seen to diminish in size, number, and staining intensity when the rat synaptic basal lamina-enriched preparations were treated with the extraction buffers. In the case of Torpedo, almost all the AChE activity was removed from the pure basal lamina sheets. We therefore conclude that a major portion of extracellular collagen-tailed AChE is extractable from rat and Torpedo synaptic basal lamina by high ionic strength and heparin buffers, although some non-extractable AChE activity remains associated with the junctional regions.

[Caustic stenosis of the esophagus in Libreville. Results of the surgical treatment]. / Les sténoses caustiques de l'oesophage à Libreville. Résultats du traitement chirurgical.

41 cases of caustic stenosis of the oesophagus were treated surgically by the thoracic and visceral surgical teams of La Fodation Jeanne Ebori and L'Hopital Pédiatrique d'Owendo in Libreville. The lesions were due to bleach ingestion in 38 cases, caustic soda in 2 cases and sulfuric acid in 1 case. Ingestion was an accident in 29 cases and voluntary in 12. There were 32 men and 9 women. Among them, there were 32 infants and 9 adults. The mean age was 4.5 years for the infants and 25 years for the adults. The surgical procedures were gastrostomy, followed by dilatations of the stenosis in 19 cases, esophagoplasty using the stomach, with pyloroplasty and jejunostomy in 4 cases, and gastrostomy associated with esophagoplasty using the colon in 18 cases. Mortality rate was 2.4%. It was about 1 patient, from general causes. Cervical or thoracic fistulae occurred in 4 patients, all of them successfully treated by medical means, and 3 patients had regressive pulmonary infections. The mean follow-up was 4 years, with good results. The authors suggest a surgical attitude in the management of caustic stenosis, every time the medical management is unsuccessfull.