Micólogas en Chile: la desconocida historia de grandes científicas del siglo XX / Mycologists in Chile: the unknown story of great women scientists of the 20th century

La mayoría de las mujeres que realizan ciencia en Chile y en otros países, son mujeres invisibles para la sociedad. Muchas mujeres que realizaron grandes esfuerzos para estudiar una carrera científica a la que dedicaron toda su vida, son olvidadas al momento de su retiro o de su muerte. Esto incluye a micólogas que vivieron o estuvieron de paso en nuestro país en el siglo XX y que realizaron grandes aportes al conocimiento de esta disciplina, comúnmente conocida como el estudio de los hongos y de especies afines. En esta revisión bibliográfica, se dan a conocer algunos nombres de las micólogas o de científicas que contribuyeron de manera significativa al desarrollo de la Micología Chilena durante el siglo XX, época donde en nuestro país la Micología era más desarrollada por hombres que por mujeres. Gran parte de las micólogas que mencionamos han fallecido, pero no por ello debemos olvidar quiénes fueron, al contrario, es importante conocer su historia que podría ser inspiradora para las próximas generaciones de mujeres micólogas en nuestro país. (AU)

Factores de riesgo para la recidiva local de la fibromatosis / Risk factors for local recurrence of fibromatosis

Objetivo. Valorar los factores clínicos, radiológicos e histológicos que pueden predecir la recidiva local de fibromatosis. Métodos. Hemos realizado un estudio retrospectivo de 51 pacientes con diagnóstico de fibromatosis en nuestra institución desde 1983 hasta 2014. La media de seguimiento es de 83 meses. Hemos estudiado parámetros clínicos, localización, profundidad, tamaño, márgenes quirúrgicos e índice de proliferación (Ki-67) del tumor. Asimismo, hemos valorado el riesgo de recidiva en función del tratamiento adyuvante y la relación del tratamiento con la funcionalidad del paciente. Resultados. Hemos observado diferencias estadísticamente significativas en cuanto a la profundidad (p=0,003) y la localización (p<0,001) como factores de riesgo de recidiva local. No existen diferencias estadísticamente significativas en cuanto a edad, sexo, tamaño, márgenes quirúrgicos ni tratamientos adyuvantes, ni en el Musculoskeletal Tumor Society Score en función del tratamiento recibido. El Ki-67 tiene una media de 1,9% (rango 1-4) y su valor no se asocia con el riesgo de recidiva. Discusión. Los tumores profundos a la fascia y los localizados en extremidades son más agresivos que los localizados superficialmente y en el tronco. El Ki-67 no tiene valor predictivo en las recidivas de la fibromatosis. La radioterapia, la quimioterapia u otros tratamientos adyuvantes como el tamoxifeno no han sido eficaces en el control local de la enfermedad. La gran cantidad de recidivas, incluso en pacientes con resecciones adecuadas, induce a plantear la posibilidad de una actitud expectante en tumores asintomáticos o en enfermedad estable (AU)

Objective. To evaluate the clinical, radiological and histological factors that can predict local recurrence of fibromatosis. Methods. A retrospective study was conducted on 51 patients diagnosed with fibromatosis in this hospital from 1983 to 2014. The mean follow-up was 83 months. A study was made of the clinical parameters, location, depth, size, surgical margins, and proliferation index (Ki-67). An evaluation was also made of the risk of recurrence depending on the adjuvant treatment and the relationship between treatment and patient functionality. Results. Tumour location and depth were identified as risk factors for local recurrence, showing statistically significant differences (P<.001 and P=.003, respectively). There were no statistically significant differences in age, gender, size, surgical margins, or adjuvant treatments, or in the Musculoskeletal Tumour Society Score according to the treatment received. The mean Ki-67 was 1.9% (range 1-4), and its value was not associated with the risk of recurrence. Discussion. Deep fibromatosis fascia tumours, and those located in extremities are more aggressive than superficial tumours and those located in trunk. The Ki-67 has no predictive value in local recurrence of fibromatosis. Radiotherapy, chemotherapy, or other adjuvant treatments such as tamoxifen have not been effective in local control of the disease. Given the high recurrence rate, even with adequate margins, a wait and see attitude should be considered in asymptomatic patients and/or stable disease (AU)

Risk factors for local recurrence of fibromatosis. / Factores de riesgo para la recidiva local de la fibromatosis.

OBJECTIVE: To evaluate the clinical, radiological and histological factors that can predict local recurrence of fibromatosis. METHODS: A retrospective study was conducted on 51 patients diagnosed with fibromatosis in this hospital from 1983 to 2014. The mean follow-up was 83 months. A study was made of the clinical parameters, location, depth, size, surgical margins, and proliferation index (Ki-67). An evaluation was also made of the risk of recurrence depending on the adjuvant treatment and the relationship between treatment and patient functionality. RESULTS: Tumour location and depth were identified as risk factors for local recurrence, showing statistically significant differences (P<.001 and P=.003, respectively). There were no statistically significant differences in age, gender, size, surgical margins, or adjuvant treatments, or in the Musculoskeletal Tumour Society Score according to the treatment received. The mean Ki-67 was 1.9% (range 1-4), and its value was not associated with the risk of recurrence. DISCUSSION: Deep fibromatosis fascia tumours, and those located in extremities are more aggressive than superficial tumours and those located in trunk. The Ki-67 has no predictive value in local recurrence of fibromatosis. Radiotherapy, chemotherapy, or other adjuvant treatments such as tamoxifen have not been effective in local control of the disease. Given the high recurrence rate, even with adequate margins, a wait and see attitude should be considered in asymptomatic patients and/or stable disease.

Clinical and radiological short-term complications after single-stage bilateral uncemented total hip arthroplasty.

PURPOSE: Economic crisis time gives to efficient procedures an important role in healthy system. Total hip replacement is a common bilateral orthopedic procedure, but there exists an important controversy to perform it in single or two stages. Our aim is to report our clinical and radiological short-term complications of bilateral uncemented total hip arthroplasty in a single time. MATERIALS AND METHODS: We have retrospectively reviewed the patients treated between 2000 and 2011 in our center by bilateral uncemented total hip replacement in a single time. We have reviewed the medical history and analyzed by age, diagnosis and ASA parameters related to the procedure, hospital stay, transfusion requirements and clinical complications. Radiological evaluation was made with anteroposterior hip radiograph evaluation (acetabular radiolucencies and stem migration). Functional assessment was carried out by the Merle D'Aubigné score. RESULTS: Seventeen patients with mean age of 47.4 (18-68) years were reviewed with a mean follow-up of 44.3 (6-172) months. ASA distribution: 29.4 % grade I; 52.9 % grade II and 17.6 % grade III. Merlé D'Aubigné score improved from 11.01 to 16.45. Hospital stay was 6 days. Transfusion requirements were two hematic concentrates for each patient. Two external popliteal sciatic nerve neurapraxias fully recovered at follow-up. Radiological results showed one case of axial migration. CONCLUSIONS: With proper patient selection and multidisciplinary team, the bilateral uncemented total hip arthroplasty in a single time has low complication rates. Our results could be used in the development of future randomized controlled trials or prospective cohort studies. LEVEL OF EVIDENCE: IV.

Embarazo triple monocorial triamniótico: experiencia de dos casos y revisión de la literatura / Triamniótico triple monochorionic pregnancy: experience of two cases and literature review

Los embarazos múltiples se consideran una entidad de alto riesgo obstétrico. Su incidencia ha ido en aumento debido a la utilización de técnicas de reproducción asistida y el aumento de la edad materna. Se presentan 2 casos de embarazos triples monocoriales triamnióticos, de sexo femenino y masculino. En ambos embarazos se manifestaron complicaciones, principalmente fetales y neonatales, atribuidas a embarazos múltiples descritas en la literatura.

Multiple pregnancies are considered a high-risk obstetric entity. Their incidence has been increasing due to the use of assisted reproductive techniques and increased maternal age. Here, we describe two cases of triamniotic monochorionic triplet pregnancies, female and male respectively. Both pregnancies demonstrated complications, mainly fetal and neonatal, attributed to multiple pregnancies reported in the literature.

Eficacia de leuprolide 11, 25 mg para supresión de testosterona en pacientes con cáncer prostático / Leuprolide s efficacy 11, 25 mg for suppression of testosterone in patients with prostatic cancer

Introducción: Los agonistas LHRH son de elección en bloqueo androgénico por cáncer prostático. En base a pacientes castrados se considera un bloqueo adecuado una testosterona total plasmática < 50 ng/dl. Se ha sugerido controlar la testosterona total por la posibilidad de no lograr una supresión adecuada. Material y método: Entre junio de 2008 a marzo de 2009 se midió el nivel de testosterona total al tercer mes de administrada una dosis de leuprolide 11,25 mg IM. Los exámenes se realizaron en la mañana y en el mismo laboratorio. En un grupo de pacientes se estimó peso, talla e índice de masa corporal (IMC) y se evaluó su asociación con los niveles de testosterona alcanzados. Resultados: Se evaluaron 81 pacientes, la edad promedio fue 76,4 años. La testosterona total plasmática promedio fue 33,9 ng/dl. En 12/81 pacientes (14,8 por ciento) el nivel de testosterona fue menos 50 ng/dl. No se observó asociación entre la duración de hormonoterapia y los niveles de testosterona. En 40 pacientes se estimó peso, talla e IMC sin encontrarse asociación de estas variables con el nivel de testosterona. En los pacientes en que se aumentó la dosis a leuprolide 22,5 mg se obtuvo una adecuada supresión de testosterona. Conclusión: En los pacientes en tratamiento con agonistas LHRH se debe medir el nivel de testosterona plasmática dada la posibilidad de un bloqueo inadecuado. En pacientes en tratamiento con leuprolide 11,25 mg y testosterona menos 50 ng/dl el aumento de la dosis a 22,5 mg lograría un nivel de testosterona en rangos de castración quirúrgica.

Introduction: The agonistas are LHRH of election in blockage androgenic for prostatic cancer. On the basis of castrated patients considers an adequate blockage a total plasmatic testosterone < 50 ng/dl. The total testosterone for the possibility to not to achieve an adequate suppression has been suggested to control. Material and method: Between June 2008 to March 2009 leuprolide’s dose measured the level of total testosterone itself to person under administration’s third month 11.25 mg IM. The exams had done in the morning and at the same laboratory. Weight, size and index of muscle mass (IMC) were estimated in patients’ group and his association with the levels of testosterone caught up with was evaluated. Results: We evaluated 81 patients, the mean age was 76.4 years. The total testosterone the average plasmatic was 33.9 ng/dl. In 12/81 patient (14.8 percent) the level of testosterone was > 50 ng/dl. we did not observe association between hormonoterapia’s duration and the levels of testosterone. Weight, size and IMC without finding association of these variables with the level of testosterone were estimated in 40 patients. We got an adequate suppression from testosterone in the patients that 22.5 mg increased itself the dose in to leuprolide. Conclusion: LHRH must try on in the patients in treatment with agonistic the level of plasmatic testosterone once the possibility of an inadequate blockage was given. In patients in treatment with leuprolide 11.25 mg and testosterone > 50 ng/dl the increase of the dose to 22.5 mg would achieve a level of testosterone in ranges of surgical castration.

Epidemiologia y etiología de la dacriocistitis aguda en el servicio de oftalmología del Hospital Guillermo Grant Benavente, Concepción: Chile / Epidemiology and etiology of acute dacryocystitis in the ophthalmology service of the Guillermo Grant Benavente Hospital, Concepcion. Chile

La Dacriocistitis Aguda (DA) consiste en una inflamación del saco lagrimal y conducto nasolagrimal, secundario a un proceso infeccioso mayoritariamente o a estenosis senil del conducto, traumatismos, tumores, sinusitis, conjuntivitis crónica y/o canaliculitis. Los grupos etarios más afectados son los lactantes y personas de edad avanzada, especialmente mujeres. Los agentes infecciosos más frecuentemente involucrados son Staphylococcus aureus y Streptococcus beta-hemolítico. Objetivos: Determinar la frecuencia de la patología, tiempo de hospitalización, la distribución por edad, la prevalencia por sexo de esta patología, tipo de tratamiento recibido por los pacientes. Metodología: los datos requeridos para el estudio se obtuvieron de la revisión de los antecedentes de hospitalización y de las fichas clínicas. Resultados: En un total de 1.870 hospitalizaciones oftalmológicas efectuadas entre Junio y Diciembre de 2007, 102 fueron por DA (5,5 por ciento). El 78 por ciento de estos era de sexo femenino y el mayor número de consultas se dieron en personas con edades entre los 70 y 79 años (33.3 por ciento). El 52.9 por ciento de los casos necesitó solo un día de hospitalización, recibiendo tratamiento sistémico el 15,7 por ciento de los pacientes que presentaba complicaciones o reagudización del cuadro. Conclusiones: El porcentaje de hospitalizaciones por DA constituye el 5,5 por ciento del total de hospitalizaciones por patologías oculares, la cual se manifiesta mayormente en mujeres adultas mayores, con hospitalizaciones de un día y antibióticoterapia sistémica efectuada con cloxacilina.

Acute dacryocystitis is an inflammation of the lacrimal sac and nasolacrimal duct, mostly secondary infection process, or senile duct stenosis, trauma, tumors, sinusitis, or chronic conjunctivitis and canaliculitis. The age groups most affected are infants and elderly, especially women. Infectious agents most commonly involved are Staphylococcus aureus and Streptococcus beta-hemolytic. There are no epidemiological studies or history of national and local causative of this condition. Objectives: To determine the frequency of hospitalization, the age distribution by sex and prevalence of this disease, know the length of hospital employee and the treatment received by patients Methodology: The data required for the study was obtained from a review of clinical records of patients Results. A total of 1870 hospitalizations eye made between June and Oecember 2007, 102 were for dacryocystitis (55 percent). 78 percent of patients were female and the largest number of inquiries occurred in patients aged 70 to 79 years (33.3 percent) The 52.9 percent of cases needed only one day of hospitalization, receiving systemic treatment for 15.7 percent of patients had complications or exacerbation of the clinical, being the drug of choice, cloxacillin. Conclusions: The incidence of hospitalizations for acute dacryocystitis is 5.5 percent of total hospitalizations for ocular pathologies. Oacryocystitis occurs mostly in older adults, whose age ranges are between 60 and 89 years, mostly female. The hospitalization time required is not more than one day to prepare for surgery, for the treatment of infectious event is performed as an outpatient. Systemic antibiotic therapy conducted in patients who show no response to empiric therapy is cloxacillin.

Evaluación de la función cardiovascular en fetos con restricción de crecimiento / Cardiac function in fetus with growth restriction

Objective: To evaluate longitudinal changes in the cardiac function parameters in relation to the hemodynamic worsening in growth restricted (IUGR) fetuses. Methods: The cardiac function was serially studied in a cohort of 46 IUGR fetuses below 32 weeks of gestation by 2-D and Doppler ultrasound parameters. IUGR was defined as an estimated fetal weight below the 10th percentile with a Doppler pulsatility index (PI) in the umbilical artery (UA) above 2 standard deviations of the mean. Longitudinal changes, perinatal deaths and survivors were evaluated. Results: All cardiac parameters were significantly different in IUGR fetuses. Aortic isthmus blood flow index (IFI) and Modified myocardial performance index (Mod-MPI) showed the clearest longitudinal changes and temporal deterioration. Conclusions: IFI and Mod-MPI showed consistent longitudinal changes in IUGR fetuses. These 2 markers could be added to the DV to evaluate the fetal deterioration and indicate the optimal time of delivery.

Objetivo: Evaluar cambios longitudinales de los parámetros de función cardíaca en relación al agravamiento hemodinámico en fetos con restricción del crecimiento intrauterino (RCIU). Métodos: La función cardíaca fue estudiada en una cohorte de 46 fetos RCIU con menos de 32 semanas de gestación con parámetros 2-D y ultrasonografía Doppler. Se definió RCIU como un peso fetal estimado bajo el percentil 10 asociado a un índice de pulsatilidad (IP) al Doppler de la arteria umbilical (AU) por debajo de dos desviaciones estándar del promedio. Se evaluaron cambios longitudinales, mortalidad y sobrevida perinatal. Resultados: Todos los parámetros tuvieron diferencias estadísticamente significativas en fetos RCIU. El índice de velocidad de flujo del istmo aórtico (IFI) y el índice de función miocárdico modificado (IFM-mod) mostraron los más evidentes cambios longitudinales y deterioro en el tiempo. Conclusiones: El IFI y el IFM-mod mostraron consistentes cambios longitudinales en fetos RCIU. Estos dos marcadores podrían ser usados junto a la medición del ductus venoso para evaluar el deterioro fetal y la indicación óptima del momento del parto.

Low-dose inhaled carbon monoxide reduces pulmonary vascular resistance during acute hypoxemia in adult sheep.

Carbon monoxide (CO) is produced by the action of the heme oxygenase (HO) complex through the oxidation of heme. CO, like nitric oxide (NO), is a molecular gas that among other actions stimulates guanylyl cyclase and increases cGMP levels in smooth muscle cells, regulating the vascular tone. Acute hypoxia generates pulmonary hypertension and increases the expression of inducible HO isoform (HO-1) in the vascular endothelium. Inhaled NO causes a potent pulmonary vasodilation. We hypothesized that inhaled CO might produce similar actions as NO on pulmonary vascular resistance (PVR). To test our contention, we studied the effects of inhaled CO (40 ppm) in the augmented PVR observed during hypoxemia. Five chronically instrumented German Merino sheep were submitted to a protocol consisting of 20 min of normoxemia (N), 20 min of isocapnic hypoxemia (H20), 20 min of isocapnic hypoxemia plus CO 40 ppm (H40), and 20 min of recovery (R). In the control protocol, we did not administer inhaled CO. Arterial gases and pH, percentage of carboxyhemoglobin (COHb), systemic and pulmonary arterial pressure, systemic and pulmonary vascular resistance, and cardiac output were measured during each period. During H20 period, there was a significant increase in cardiac output and PVR in sheep submitted to both protocols. The sheep treated with inhaled CO (H40 + CO) showed a modest but significant decrease (16%) in the elevated PVR. Our data indicate that inhaled CO decreases pulmonary vascular resistance associated with acute hypoxemia in adult sheep.

Caracterización clínica de 450 pacientes con enfermedad cerebrovascular ingresados a un hospital público durante 1997 / Retrospective analysis of 450 patients with cerebrovascular disease admitted to a public hospital during 1997

Background: In Chile, cerebrovascular diseases are the fifth cause of death among men and the third cause among women. Aim: To assess the clinical features and management of patients with cerebrovascular disease admitted to a public hospital during 1997. Patients and methods: A retrospective analysis of clinical records of patients discharged with a diagnosis of cerebrovascular disease. Those records in which there was discordance between the discharge diagnosis and the clinical picture were not considered in the analysis. Results: Of the 563 discharges from the hospital with the diagnosis of cerebrovascular disease, 487 records were located and 450 were considered in the analysis. Fifty four percent of patients were male and ages ranged from 17 to 96 years old...

Ataxia de Friedreich y embarazo / Friedreich's ataxia and pregnancy

Se presenta un caso clínico exitoso de embarazo y parto en un paciente portadora de una ataxia de Friedrich

Cavernoma complicado de tronco cerebral y embarazo / Complicated cavernoma of brain stem and pregnancy

Se presenta el caso clínico de una primigesta adolescente de 14 años, que asociado al inicio de su gestación, se le pesquisa una malformación vascular del tronco encéfalico complicada

Enfermedad de los tics: síndrome de Gilles de la Tourette: características clínicas de 70 pacientes / Gilles de la Touretteïs syndrome: clinical review and analysis of 70 chilean patients

Background: Tourette's syndrome is a childhood-onset hereditary neurobehavioural disorder believed to occur without geographical restrictions. Although there have been reports of this disorder worldwide just a few are from Latin America. Aim: To report a preliminary experience with a series of 70 patients and to review recent advances in this disorder. Patients and Method: We reviewed patients seen in pediatric and adult neurological clinics in Santiago, Chile, all of whom fulfilled clinical diagnostic criteria for Tourette Syndrome. Results: Seventy patients were studied, 54 males (77.1 percent) and 16 females (22.8 percent), their mean age at first evaluation was 13.6 years (range 2-46). The mean age of onset of symptoms was 6.4 (range 2-20), the mean time of follow-up was 3 years. Fifty-eight patients showed simple motor tics (blinking, facial grimacing, shoulder shrugging), whereas dystonic tics like head jerking were seen in 38 patients, torticollis in 6 and oculogyric movements in 2. Complex motor tics like jumping, antics, trunk bending and head shaking were present in 16 subjects. Vocal tics were predominantly of the simple type: sniffing, throat clearing, blowing, and whistling. Complex vocal tics were seen in 12 patients, five cases showed palilalia, 3 echolalia and only six displayed coprolalia (8.5 percent). Tics were of mild to moderate severity in most patients. Obsessive-compulsive disorder was observed in 22.8 percent and attention deficit and hyperactivity disorder were present in 35.7 percent. Forty-five patients (64.2 percent) had a first degree relative with tics, nine patients (12.8 percent) had a family history of obsessive-compulsive disorder. The current evidence involving desinhibition of cortico-striatum-thalamic-cortical neuronal circuits in the pathogenesis of this disorder is analyzed. Conclusion: Our report supports the recognized clinical homogeneity and genetical basis of TouretteÕs syndrome regardless of geographical region and ethnic origin

Vasopressin stimulates tyrosine phosphorylation by activation of PKC in the rat smooth muscle cell line, A-10.

Arginine vasopressin (AVP)-induced tyrosine phosphorylation was studied in a rat smooth muscle cell line, A-10, by western blotting, using a monoclonal antibody against phosphotyrosine. AVP stimulated the phosphorylation of several cellular proteins of molecular mass 60-130 kDa in a time- and dose-dependent manner. Phosphorylation was mediated largely by V(1)receptor subtype since it was inhibited by selective V(1)antagonist and was only partially elicited by the V(2)agonist, desmopressin. Heterotrimeric G-proteins seemed to be involved in the phosphorylation mechanism because fluoraluminates, an activator of heterotrimeric G-proteins (and thus an uncoupler of the receptor-G-protein interaction) inhibited the AVP-induced phosphorylation. The protein kinase C (PKC) inhibitors: staurosporine, H7 and GF109203X are able to block the AVP-stimulated phosphorylation. The last of these has been shown to be one of the most selective inhibitors of PKC. These results indicate that PKC is upstream of the phosphorylation, a motion which is supported by the fact that the AVP-stimulated phosphorylation was downregulated by phorbol esters.

Hallazgos neurorradiológicos en dos casos de enfermedad de Wilson de presentación neurológica / Neuroradiological findings in Wilson disease presenting with neurological involvement: report of 2 cases

Wilson disease is an inborn error of copper metabolism that bas neurological and hepatic manifestations. We report a 13 years old girl and a 12 years old boy with Wilson disease. In both patient, brain computed tomography and magnetic resonance imaging showed marked involvement of basal ganglia and other deep gray nuclei. Considering that this is a treatable disease, it should be included in the differential diagnosis of the so called "striatal necrosis of childhood"

Immunolocalization of V1 vasopressin receptors in the rat kidney using anti-receptor antibodies.

By using immunocytochemical techniques we have been able to localize the V1 vasopressin receptor in the rat kidney. Immunoblotting using an antiserum raised against an affinity-purified vasopressin receptor showed a 55,000 daltons protein band that has a molecular mass similar to that of the liver V1 vasopressin receptor, as demonstrated by cross-linking studies. Immunoblotting of the antibody showed a band of 55,000 daltons in A-10 cells, which contains the V1 subtype, whereas it did not stain LLC-PK1 cells, which possess the V2 subtype, showing that the antibody recognizes the V1 vasopressin receptor. The immunostaining of kidney sections with this antiserum showed a strong reaction of the connecting tubules and cortical and medullary collecting ducts. The immunostaining pattern of connecting tubule and collecting duct cells was different, that is, the former showed a staining of both the apical and basal plasma membrane but also in the cytoplasm, whereas the latter showed a strong reaction mainly in the basolateral membrane. Immunostaining of consecutive serial sections with an antiserum raised against tissue kallikrein, an enzyme present exclusively in connecting tubules, and with the anti-receptor serum allowed us to show, for the first time, the presence of the vasopressin receptor in the connecting tubule cells and their absence in intercalated cells, the other cell type present in connecting tubules. These findings support experiments carried in the eighties on the release of renal tissue kallikrein by AVP.

[Nitric oxide in respiratory diseases]. / Oxido nítrico en las enfermedades respiratorias.

Recent reports have described a pathogenic role of nitric oxide in several respiratory disease. It is specially useful in the adult respiratory distress syndrome, where it acts as a selective vasodilator and improves gas exchange, decreasing pulmonary shunting. Although it has a proven bronchodilator effect, its therapeutic role in diseases such as asthma and chronic limitation of airway flow is not well defined. This article review the metabolism, mechanisms of action, potential uses and adverse effects of nitric oxide in respiratory disease.

Efectividad de baclofeno en el tratamiento de espasticidad de origen cerebral / Usefulness of baclofen in spasticity of brain origin

Propósito: comparar la efectividad de baclofeno y un placebo para disminuir la espasticidad, mejorar la función motora, autonomía funcional y participación en sus cuidados diarios. Diseño: prospectivo, cruzado, de administración de baclofeno (1 a 2 mg . kg . día) y placebo (tiamina, 37,5 mg . día) en dos fases de seis semanas cada una. Situación: pacientes con parálisis cerebral de una institución privada para el cuidado de inválidos, bajo control y tratamiento en la unidad de neurología pediátrica del Hospital Clínico San Borja-Arriarán, en Santiago metropolitano. Veinte personas de 3 a 26 años de edad, con parálisis cerebral espástica. Mediciones y resultados: en la evaluación inicial del tono muscular con la escala de uno (normal) a cinco puntos (rigidez severa) de Ashworth, todos los pacientes tenían puntajes de espasticidad iguales o mayores a 3, lo que no cambió bajo placebo, pero disminuyó significativamente durante el tratamiento con baclofeno, en que el tono bajó de 10 casos a puntaje 2 (prueba de Wilcoxon p < 0,05). En nueve pacientes mejoraron la movilidad espontánea y el desempeño en sus cuidados de rutina en la fase de baclofeno. No se registraron cambios en la función motora gruesa. Los beneficios fueron mayores en los pacientes con menores deterioros intelectual y motor, en todos los aspectos. El baclofeno puede ser un tratamiento auxiliar útil en pacientes con parálisis cerebral espástica y merece ser evaluado en ensayos de mayor duración

Aciduria glutárica tipo I: una encefalopatía metabólica extrapiramidal / Type I glutaric aciduria: an extrapyramidal metabolic encephalopathy

Se describen tres niños, uno varón, de 4, 6 y 2 años de edad, afectados de aciduria glutárica tipo I. Su desarrollo fue normal hasta la segunda mitad del primer año de vida, cuando sufrieron alteración de conciencia y convulsiones, seguidas de pérdida de las habilidades adquiridas, distonía y movimientos anormales. La tomografía axial y resonancia nuclear magnética de cerebro mostraron atrofia frontotemporal y de los núcleos caudados y putámenes. Habíagran cantidad de ácidos glutárico, 3-hidroxiglutárico y glutacónico en orina y actividad disminuida de la enzima glutaril CoA deshidrogenasa en cultivos de fibroblastos de los tres niños, confirmándose así el diagnóstico de esta afección metabólica

Enfermedad de Wilson: una revisión a propósito de experiencia clínica en 16 pacientes / Wilson's disease: a review apropos of clinical experience in 16 patients

Wilson's disease is an inherited disorder of copper metabolism. We report 16 patients (6 males) with the disease; 6 had hepatic involvement and 3 were asymptomatic. The age onset was 9 years for hepatic and 17 years for neurologic involvement. The mean delay in diagnosis was 14 months. Chronic hepatitis, cirrhosis and fulminant hepatic failure were the clinical forms of liver disease. Patients with neurologic disorders had behavioral disturbances and extrapyramidal manifestations such as dystonia and parkinsonism. Patients had a good response to penicillamine, except 3 that died of liver complications, in whom the treatment was delayed or discontinued. We conclude that this metabolic disease must be suspected in pubertal children and in adults of less than 30 years old with liver disease of unknown origin or behavioral alterations associated to an extrapyramidal syndrome