Perfil clínica y electromiográfico de las distrofias musculares en República Dominicana / Clinical and electromyographic profile of muscular dystrophies in the Dominican Republic

Introducción: Las distrofias musculares son trastornos miogénicos hereditarios caracterizados por una atrofia muscular progresiva y una debilidad de distribución y gravedad variable. La población de Republica Dominicana es fruto de una mezcla de etnias, haciéndola portadora de una herencia cromosómica y ADN diverso, siendo susceptibles a poder presentar cualquier desorden de carácter hereditario. Material y métodos: Con una muestra de 17 pacientes obtenidos entre septiembre 2019- marzo 2020, se realizó un estudio retrospectivo, descriptivo y transversal, en el cual se hizo una revisión de los expedientes de la clínica de miopatías en la consulta de neurología pediátrica del Hospital Infantil Doctor Robert Reid Cabral, para describir el perfil clínico de los pacientes con distrofia muscular y los hallazgos de electromiografía en los casos que la misma. Resultados: se encontró que la distribución de la edad correspondió a 5-9 años en un 53%, siendo el sexo masculino, el más frecuente. En el 70.59% presentaron antecedentes familiares de distrofia muscular. Los principales motivos de consulta fueron cansancio y caídas frecuentes. Conclusión: En los hallazgos de electromiografía, el porcentaje de pacientes que presentó esta prueba con alteraciones fue de 88.24% y sin alteraciones el 11.76%. Esto nos demuestra, la gran utilidad de dicho estudio en el diagnóstico de las distrofias musculares en países donde no se cuenta con estudio molecular, siendo una de las pruebas esenciales en el abordaje diagnóstico de los pacientes con sospecha clínica de dichas patologías.

Introduction: Muscular dystrophies are hereditary myogenic disorders characterized by progressive muscular atrophy and weakness of variable distribution and severity. The population of the Dominican Republic is the result of a mixture of ethnic groups, making it the bearer of a diverse chromosomal inheritance and DNA, being susceptible to presenting any hereditary disorder. Methods: With a sample of 17 patients obtained between September 2019-March 2020, a retrospective, descriptive and cross-sectional study, in which a review of the files of the myopathies clinic was made in the pediatric neurology consultation of the Children's Hospital Doctor Robert Reid Cabral, to describe the clinical profile of patients with muscular dystrophy and the electromyography findings in the cases with the same. Results: The age distribution corresponded to 5-9 years; 53%, being the masculines, the most frequent sex. In 70.59%, there was a family history of muscular dystrophy. The main reasons for consultation were fatigue and frequent falls. Conclusion: In the electromyography findings, the percentage of patients who presented this test with alterations was 88.24% and 11.76% without alterations. This result shows us the great utility of said study in the workup of muscular dystrophies in countries with no availabilities for molecular studies, being one of the essential tests in the diagnostic approach of patients with clinical suspicion of said pathologies.

Budesonide in the first line treatment of patients with autoimmune hepatitis / Budesonida en primera línea de tratamiento de pacientes con hepatitis autoinmune

Budesonide is a glucocorticoid characterized by its local action, with a low systemic bioavailability. Since the original trial comparing budesonide with prednisone in 2010, it is recommended as an effective alternative for the treatment of non-severe acute or chronic autoimmune hepatitis. In this document, we review the general pharmacologic properties of glucocorticoids, the available evidence for the use of budesonide as first line option for autoimmune hepatitis as well as the safety profile of the drug.(AU)

La budesonida es un glucocorticoide que se caracteriza por su acción local, con una baja biodisponibilidad sistémica. Desde el ensayo original publicado en 2010, en el que se comparó la budesonida con prednisona, se recomienda como una alternativa eficaz en el tratamiento de los pacientes con hepatitis autoinmune aguda o crónica no grave. En este documento, revisamos las propiedades farmacológicas generales de los glucocorticoides, la evidencia disponible para el uso de budesonida como fármaco de primera línea en estos pacientes, así como el perfil de seguridad del fármaco.(AU)

Budesonide in the first line treatment of patients with autoimmune hepatitis.

Budesonide is a glucocorticoid characterized by its local action, with a low systemic bioavailability. Since the original trial comparing budesonide with prednisone in 2010, it is recommended as an effective alternative for the treatment of non-severe acute or chronic autoimmune hepatitis. In this document, we review the general pharmacologic properties of glucocorticoids, the available evidence for the use of budesonide as first line option for autoimmune hepatitis as well as the safety profile of the drug.

Comparison of in vitro, in vivo, and in silico bioavailability results of different prednisone tablet formulations to assess the feasibility of possible biowaiver / Comparación de los resultados de biodisponibilidad in vitro, in vivo e in silico de diferentes formulaciones de comprimidos de prednisona para evaluar la viabilidad de una posible bioexención

Introducción: Los productos orales sólidos de liberación inmediata que contienen fármacos muy solubles y perme-ables son candidatos para el proceso de bioexención. Este trabajo tiene como objetivo comparar datos in vitro, in silico e in vivo para establecer si las formulaciones de comprimidos orales de prednisona publicadas anteriormente son candidatas a la bioexención. Método: Para lograr este objetivo se realizaron estudios de permeación en células Caco-2. Se aplicó un estudio de bioequivalencia previo entre la formulación de prueba y el medicamento de referencia en una evaluación in silicoutilizando Gastroplus® para evaluar la bioequivalencia de otras dos formulaciones propuestas anteriormente. Resultados: El coeficiente de permeabilidad aparente para prednisona presentó un valor de 3,69 x 10-5 cm/s en 180 minutos. El estudio de bioequivalencia muestra que el producto probado y de referencia era equivalente. Las simulaciones in silicopredijeron con éxito la farmacocinética de las formulaciones probadas y las otras dos, ya que fueron validadas con el estudioin vivo. Ambos exhiben los mismos perfiles de concentración plasmática frente a tiempo. Conclusiones: A través de los resultadosin silico, es posible inferir que las otras dos formulaciones ensayadas pueden ser bioequivalentes respecto al producto de referencia. Este resultado puede ser útil en la solicitud de bio-exenciones. Para reducir los costos y el uso de seres humanos en los estudios de bioequivalencia, este enfoque podría ser una forma esencial de trabajar en la industria farmacéutica. (AU)

Introduction: The immediate-release solid oral products containing very soluble and permeable drugs are candidates for the biowaiver process. This work aims to compare in vitro, in silico, and in vivo data to establish if previously published prednisone oral tablet formulations are biowaiver candidates. Method: To achieve this goal, permeation studies were conducted on Caco-2 cells. A previous bioequivalence study between the test and the reference drug product was applied on an in silico evaluation using Gastroplus® to assess the bioequivalence of two other previously proposed formulations. Results: The apparent permeability coefficient for prednisone presented a value of 3.69 x 10-5 cm/s in 180 minutes. The bioequivalence study shows that the tested and reference product was equivalent. The in silico simulations successfully predicted the pharmacokinetics of the tested and the other two formulations since they were validated with the in vivo study. Both exhibit the same plasma concentration vs. time profiles. Conclusions: Through the in silico results, it is possible to infer that the other two formulations tested may be bioequivalent concerning the reference product. This result may be helpful in biowaiver requesting. Toward to reduce costs and the use of human beings in bioequivalence studies, this approach could be an essential way to work in the pharmaceutical industry. (AU)

Eficacia del uso de prednisona como terapia a largo plazo en pacientes con polineuropatía desmielinizante inflamatoria crónica (PDIC): una cohorte retrospectiva / Efficacy of long-term prednisone therapy in patients with chronic inflammatory demyelinating polyneuropathy (CIDP): a retrospective cohort study

Introducción: Los pacientes con polineuropatía desmielinizante inflamatoria crónica (PDIC) responden adecuadamente a la terapia con esteroides y a la inmunoglobulina intravenosa (IgIV). Sin embargo, pocos pacientes tienen acceso a la IgIV en los países en desarrollo. Existe poca información sobre la respuesta clínica a la terapia con esteroides en los países de Latinoamérica. Objetivo: Describir la respuesta clínica funcional a largo plazo (24 meses) a la terapia con prednisona en pacientes con PDIC. Material y métodos. Se realizó una cohorte retrospectiva. La selección incluyó a pacientes con diagnóstico definitivo de PDIC según los criterios europeos de la Clínica de Enfermedades Neuromusculares del Instituto Nacional de Neurología y Neurocirugía entre enero de 2016 y diciembre de 2020. La buena respuesta a la terapia con esteroides se definió como una mejoría al menos en un punto de la Guillain-Barre Disability Score (GBS). La mala respuesta a la terapia con esteroides se definió como pacientes que no mostraron mejoría al menos en un punto en la GBS. Los pacientes fueron evaluados a los 3, 6, 12, 18 y 24 meses. Resultados: Se incluyó a 47 pacientes con PDIC. La mitad de ellos eran varones y la edad media fue de 46 ± 15 años. El tiempo medio desde el inicio de los síntomas hasta el diagnóstico fue de 6 (rango intercuartílico: 2-12) meses. La variante clínica más común fue la sensomotora (57,4%), seguida de la PDIC de inicio agudo (21,3%) y de variantes atípicas (21,2%). En el momento del diagnóstico, nuestros pacientes presentaban: GBS media de 3 (2,25-4) puntos, puntuación de la escala del Medical Research Council (MRC) de 39,5 ± 12 puntos, marcha independiente en el 17% y dosis media de prednisona de 50 mg (32,5-50). Veinticuatro meses después de la terapia con prednisona, la GBS media era menor –1 (0-2) puntos–, la puntuación media del MRC era de 56,3 ± 5,1 puntos, había marcha independiente en el 93% y la dosis de prednisona era de 1 mg (0-5)...(AU)

Introduction: Patients with CIDP respond adequately to steroid therapy and intravenous immunoglobulin (IVIG). However, few patients have access to IVIG in developing countries. Little information exists about the clinical response to steroid therapy in Latin American countries. Objective: to describe the long-term functional clinical response (24 months) to prednisone therapy in CIDP patients. Material and methods. A retrospective cohort was conducted. Selection included patients with definitive CIDP diagnosis according to European criteria from the Neuromuscular Diseases clinic of the National Institute of Neurology and Neurosurgery between January 2016 and December 2020. Good response to steroid therapy was defined as with improvement in at least one point on the GBS disability score. Poor response to steroid therapy was defined as patients who did not show improvement in at least one point on the GBS disability score. Patients were evaluated at 3, 6, 12, 18 and 24 months. Results: Forty-seven patients with CIDP were included. Half of them were male and mean age was 46±15 years. Mean time since symptom onset to diagnosis was 6 (IQR 2-12) months. The most common clinical variant was sensory-motor 57.4%, followed by acute-onset CIDP 21.3% and atypical variants 21.2%. At diagnosis our patients presented: mean GBS disability score of 3 (2.25-4) points, MRC score 39.5 ± 12 points, independent gait in 17%, mean prednisone dose of 50 mg (32.5-50). Twenty-four months after prednisone therapy, a less mean GBS disability score –1(0-2) points–, mean MRC score 56.3 ± 5.1 points, independent gait 93% and prednisone dose 1 (0-5) mg. Patients with poor three-month functional clinical response had a delay in diagnosis > 6 months (64.7% vs 27.5%) and atypical clinical variants (47% vs 6.8%)...(AU)

Effects of salbutamol, montelukast and prednisone on orthodontic tooth movement in rats / Efeitos do salbutamol, montelucaste e prednisona no movimento dentário ortodôntico em ratos

Objective: To evaluate the effect of salbutamol, montelukast, and prednisone on orthodontic tooth movement in rats. Material and Methods: In vivo experimental preclinical study. The sample consisted of 48 rats randomly distributed in four study groups. Group A was given saline solution; to group B, salbutamol 4 mg/Kg; to group C, montelukast 2.5 mg/Kg and to group D, prednisone 2.5 mg/Kg. All were fitted with orthodontic devices and the medications were administered intraperitoneally every 12 hours for 5 days. The clinical evaluation (variation in the interincisal distance) was performed at one, three, five, and seven days and the histopathological analysis (cell count) at five and seven days. Results: In the clinical evaluation of the variation in the interincisal distance, a significant difference was found in all the evaluations (p <0.05). It was found that the salbutamol group presented higher variation values in the interincisal distance on all the days evaluated. In the histopathological analysis at five and seven days, it was found that the osteoblast and osteocyte count was significantly higher in the salbutamol group compared to the other groups (p <0.05). However, in the subgroup analysis, it was found that there was no significant difference in the osteoblast and osteocyte count between the prednisone, montelukast, and control group (p> 0.05). Conclusion: The administration of salbutamol increased the magnitude of orthodontic tooth movement; nonetheless, the administration of montelukast and prednisone did not modify the magnitude of orthodontic tooth movement in rats. (AU)

Objetivo: Avaliar o efeito do salbutamol, montelucaste e prednisona no movimento dentário ortodôntico em ratos. Material e métodos: Estudo pré-clínico experimental in vivo. A amostra foi composta por 48 ratos distribuídos aleatoriamente em quatro grupos de estudo. O grupo A recebeu solução salina; para o grupo B, salbutamol 4 mg/kg; ao grupo C, montelucaste 2,5 mg/kg e ao grupo D, prednisona 2,5 mg/kg. Todos foram equipados com dispositivos ortodônticos e os medicamentos foram administrados por via intraperitoneal a cada 12 horas por 5 dias. A avaliação clínica (variação da distância interincisal) foi realizada em um, três, cinco e sete dias e a análise histopatológica (contagem de células) em cinco e sete dias. Resultados: Na avaliação clínica da variação da distância interincisal, houve diferença significativa em todas as avaliações (p <0,05). Verificou-se que o grupo salbutamol apresentou maiores valores de variação na distância interincisal em todos os dias avaliados. Na análise histopatológica aos cinco e sete dias, verificou-se que a contagem de osteoblastos e osteócitos foi significativamente maior no grupo salbutamol em comparação aos demais grupos (p<0,05). No entanto, na análise de subgrupos, verificou-se que não houve diferença significativa na contagem de osteoblastos e osteócitos entre os grupos prednisona, montelucaste e controle (p>0,05). Conclusão: A administração de salbutamol aumentou a magnitude do movimento dentário ortodôntico; no entanto, a administração de montelucaste e prednisona não modificou a magnitude do movimento dos dentes ortodônticos em ratos. (AU)

Nefritis lúpica: experiencia con dosis reducidas de glucocorticoides en una unidad de enfermedades autoinmunes sistémicas / Lupus nephritis: low-dose glucocorticoids in a systemic autoimmune diseases unit / Nefritis lúpica: experiência con doses reduzidas de glicocorticoides em uma unidade de doenças autoinmunes sistémicas

Resumen: Introducción: las recomendaciones actuales del tratamiento de la nefritis lúpica (NL) apuntan a dosis de glucocorticoides más bajas para lograr el control de la enfermedad y evitar el daño acumulado. Objetivo: conocer y comparar la respuesta al tratamiento de pacientes con NL proliferativa en su etapa de inducción con dos pautas de tratamiento con prednisona (PDN): dosis iniciales reducidas 30 mg/d. Método: se compararon variables clínicas, analíticas y terapéuticas de pacientes con NL proliferativa categorizados en dos grupos según la dosis inicial de prednisona (PDNi) estándar o reducida. Resultados: se estudiaron 21 pacientes con NL proliferativa (n=12 PDNi reducida vs. n=9 PDNi estándar). No hubo diferencias significativas en las variables clínicas y analíticas. Se observó una diferencia estadísticamente significativa en el número de pulsos de metilprednisolona (5 ± 2,95 PDNi 30 mg/d, p = 0,041) y en la dosis de prednisona acumulada a 6 meses (12,8 mg ± 4,9 PDNi 30 mg/d, p =0,008). No hubo diferencias significativas en la proporción de pacientes que alcanzaron la respuesta completa, en el tiempo hasta alcanzarla ni en los efectos adversos entre ambos grupos. Conclusiones: el esquema terapéutico del grupo PDNi <30 mg/d se asoció a una menor dosis acumulada de prednisona y una respuesta al tratamiento comparable, lo que hace presumir menor daño acumulado relacionado al uso de glucocorticoides.

Abstract: Introduction: current recommendations to treat lupus nephritis (LN) point to low-dose glucocorticoids to control the disease and avoid cumulativedamage. Objective: to learn about and compare the response of patients with proliferative LN who are treated following two prednisone therapy guidelines: reduced initial doses 30 mg/d during the induction stage. Method: clinical, analytical and therapeutic guidelines of patients with proliferative LN were compared and classified into two groups according to the standard or low-dose initial prednisone dose. Results: 21 patients with proliferative LN were studied (n=12 low-dose initial prednisonevs. n=9 standard initial prednisone). No significant differences were found between clinical and analytical variables, although a significantly different statistic difference was observed in the number of methylprednisone pulses (5 ± 2.95 initial prednisone 30 mg/d, p = 0.041) and in the prednisone dose accumulated in 6 months (12.8 mg ± 4.9 initial prednisone 30 mg/d, p =0.008). No significant differences were seen between both groups in the proportion of patients who achieved complete response, neither in terms of the time it took to achieve it or in the side effects. Conclusions: the treatment plan for the initial prednisone <30 mg/d was associated to a lower cumulative dose of response prednisone considering the comparable treatment, what suggests there being smaller cumulative harm as a consequence of the use of glucocorticoids.

Resumo: Introdução: as recomendações atuais para o tratamento da nefrite lúpica (NL) estão orientadas a doses de glicocorticoides mais baixas para controlar a enfermidade e evitar o dano acumulado. Objetivo: conhecer e comparar a resposta ao tratamento de pacientes com NL proliferativa na etapa de indução com duas pautas de tratamento com prednisona (PDN): doses iniciais reduzidas 30 mg/d. Método: foram comparadas variáveis clínicas, analíticas e terapêuticas de pacientes com NL proliferativa divididos em dois grupos segundo a dose inicial de prednisona (PDNi) padrão ou reduzida. Resultados: 21 pacientes com NL proliferativa (n=12 PDNi reduzida vs. n=9 PDNi estândar) foram estudados. Não foram observadas diferenças significativas nas variáveis clínicas e analíticas. Observou-se uma diferença estatisticamente significativa no número de pulsos de metilprednisolona (5 ± 2,95 PDNi 30 mg/d, p = 0,041) e nas doses de prednisona acumulada aos 6 meses (12,8 mg ± 4,9 PDNi 30 mg/d, p =0,008). Não foram observadas diferenças significativas na proporção de pacientes que alcançaram a resposta completa, no tempo até alcançá-la nem nos efeitos adversos entre ambos grupos. Conclusões: o esquema terapêutico do grupo PDNi <30 mg/d foi associado a uma menor dose acumulada de prednisona em resposta ao tratamento comparável, o que sugere menos dano cumulativo relacionado ao uso de glicocorticoides.

Paracoccidiodomicosis suprarrenal / Adrenal paracoccidioidomycosis

La insuficiencia suprarrenal primaria es un defecto en la producción de glucocorticoides, mineralocorticoides y andrógenos sexuales. Los pacientes afectados por esta condición se caracterizan por concentraciones bajas de cortisol y deficiencia de aldosterona con hiponatremia e hiperpotasemia concomitantes. La etiología más común es el desarrollo de anticuerpos contra la enzima 21 hidroxilasa. Otra causa importante de la insuficiencia suprarrenal primaria son las enfermedades infecciosas, en especial en los países de bajos ingresos. Entre las causas infecciosas que se han descrito se encuentran: Mycobacterium tuberculosis, el complejo de Mycobacterium avium, Neisseria meningitidis, Pseudomonas aeruginosa, Haemophilus influenzae, citomegalovirus, Pneumocystis jirovecii, Histoplasma capsulatum, Blastomyces dermatiditis, Cryptococcus neoformans, Cocciodiodes immitis, Nocardia spp. y Paracoccidioides brasiliensis. En este artículo se presenta la imagen de la tomografía de un paciente que presentó falla suprarrenal, con masas en las glándulas suprarrenales, cuya biopsia permitió establecer el diagnóstico final de paracoccidioidomicosis.

Primary adrenal insufficiency is a defect in glucocorticoid, mineralocorticoid and sexual androgens production. Patients with this disorder have low cortisol levels and aldosterone deficiency with concomitant hyponatremia and hyperkalemia. The most common etiology of this disease is the production of antibodies against the enzyme 21 hydroxylase. Another common cause, particularly in low income countries, are infectious diseases. Several micro-organisms have been reported as a causal agent in adrenal insufficiency including Mycobacterium tuberculosis, Mycobacterium avium complex, Neisseria meningitidis, Pseudomonas aeruginosa, Haemophilus influenzae, cytomegalovirus, Pneumocystis jirovecii, Histoplasma capsulatum, Blastomyces dermatiditis, Cryptococcus neoformans, Cocciodiodes immitis, Nocardia spp. and Paracoccidioides brasiliensis. In this article, we present the computerized tomography and the adrenal biopsy of a patient with adrenal insufficiency. The final diagnosis was paracoccidioidomycosis.

Síndrome hipereosinofílico con eritrodermia / Hypereosinophilic syndrome with erythrodermia

Varón de 77 años de edad, con antecedentes de insuficiencia cardiaca y fibrilación auricular recibiendo warfarina, hipotiroidismo, diabetes mellitus e hiperuricemia, con historia de un año de lesiones dérmicas eritematosas y descamativas en el tronco, pruriginosas y con moderada eosinofilia recurrente. Después de descartarse causas alérgicas, parasitarias, autoinmunes y neoplásicas, se hizo el diagnóstico de síndrome hipereosinofílico idiopático. Recibió tratamiento con prednisona e hidroxiurea, consiguiéndose una remisión completa de la eosinofilia y mejoría progresiva de las lesiones dérmicas. (AU)

A 77-year-old male, with a history of heart failure and atrial fibrillation receiving warfarin, hypothyroidism, diabetes mellitus and hyperuricaemia, with a one-year history of erythematous and desquamative skin lesions in the trunk, pruritic and moderate recurrent eosinophilia. After allergic, parasitic, autoimmune and neoplastic causes were ruled out, the diagnosis of idiopathic hypereosinophilic syndrome was done. He was treated with prednisone and hydroxyurea, resulting in complete remission of eosinophilia and progressive improvement of dermal lesions. (AU)

Pitiriasis rubra pilaris atípica en pediatría. A propósito de un caso / Atypical pityriasis rubra pilaris in pediatrics. A case report

Resumen Pitiriasis rubra pilaris es una dermatosis eritematoescamosa infrecuente, de etiología desconocida producida por una alteración en la queratinización de la epidermis. Presenta una distribución bimodal con mayor incidencia en la primera y sexta década de vida. Posee una clínica heterogénea clasificada en 6 subtipos según Griffiths, de acuerdo a su presentación clínica y pronóstico. Sus principales hallazgos son pápulas hiperqueratósicas foliculares, queratodermia palmoplantar y placas eritematoesmamosas rojo-anaranjadas que pueden progresar a eritrodermia, con islas de piel sana. En niños las manifestaciones clínicas más frecuentes son la III y IV de la clasificación de Griffiths, según distintos estudios. La histología no es específica pero apoya el diagnóstico. Existen múltiples opciones terapéuticas según la extensión y severidad del cuadro. Presentamos el caso de un preescolar de 5 años de edad con diagnóstico de PRP atípica asociado a eritema extenso, con buena respuesta a corticoides sistémicos y posteriormente a retinoides tópicos.

Summary Pityriasis rubra pilaris (PRP) is an unusual erythematous squamous dermatosis of unknown etiology, caused by an alteration of keratinization in the epidermis. This disease presents a bimodal distribution, being its incidence greater in the first and sixth decade of life. It has a heterogeneous clinical manifestation, and, according to Griffiths, has been classified into 6 subtypes, based on clinical features and prognosis. The typical manifestations of this disease are follicular hyperkeratotic papules, palmoplantar keratoderma and orange-red scaly plaques that can progress to erythroderma, with islands of sparing. According to different studies, the most frequent clinical manifestations in children are type III and IV according to Griffiths classification. Histology is not specific but supports diagnosis. There are multiple therapeutic options, depending on the extension and severity of the disorder. This review presents the case of a 5-year- old child case with a diagnosis of atypical PRP associated with extensive erythema, his response to treatment of systemic corticosteroids and later to topical retinoids being good.

Distrofia muscular de Duchenne: reportes de caso / Duchenne Muscular Dystrophy: Case Reports

La distrofia muscular de Duchenne es una enfermedad muscular grave ligada al cromosoma X que afecta el gen que codifica la distrofina, proteína fundamental para el mantenimiento de la fibra muscular. Se caracteriza por debilidad muscular de inicio en la infancia que sigue un curso progresivo. Sin intervención alguna, los pacientes pierden la marcha antes de la adolescencia y el fallecimiento ocurre en la segunda década de la vida por complicaciones respiratorias o problemas cardiacos. Actualmente no existe tratamiento curativo, pero la terapia con corticoides y el manejo multidisciplinario y ortopédico modifican la historia natural de esta miopatía. En este artículo se presentan dos casos clínicos de niños que presentaron dificultad para realizar actividades físicas vigorosas. Se les diagnosticó distrofia muscular de Duchenne confirmada por creatina-fosfocinasa y electromiografía, con mejoría del cuadro clínico, gracias al tratamiento instaurado.

The Duchenne muscular dystrophy is a bound serious muscular illness to the X-linked chromosome that affects to the gene that codes the dystrophin, protein important for the maintenance of the muscle fiber. It is characterized by muscle weakness of beginning in the childhood that follows a progressive course. Without intervention some, the patients lose the march before the younger and the death happens in the second decade of life for breathing complications or heart problems. At the moment it doesn't exist healing treatment, but the therapy with corticosteroids and the handling several disciplines and orthopedic they modify the natural history of this muscle disorders. In this article, we present two clinical cases of children who had difficulty prefoming vigorous physical actives. Diagnosis of Duchenne muscular dystrophy confirmed by creatin phosphokinase and electromyography with improvement of the clinical picture thanks to the treatment provided.

Sarcoma de Kaposi por dosis altas de esteroides / Kaposi´s sarcoma due to high dose of steroids

Se describe el caso clínico de una paciente de 42 años de edad, quien necesitó tratamiento reiterado con prednisona y a partir de entonces comenzó a presentar lesiones cutáneas en ambas piernas. Luego de ser valorada por especialistas en reumatología y dermatología fue remitida al Servicio de Angiología, donde se le realizó biopsia (con el uso de la coloración de hematoxilina-eosina), cuyos resultados fueron compatibles con un sarcoma de Kaposi, atribuible al suministro de esteroides.

The case report of a 42 years patient is described who needed repeated treatment with prednisone and from that time on she began to present cutaneous lesions in both legs. After being evaluated by reumatology and dermatology specialists, she was referred to the Angiology Service, where a biopsy was taken (with the use of the hematoxylin-eosine stain) which results were compatible with a Kaposi´s sarcoma, attributable to steroids supply.

Sarcoma de Kaposi por dosis altas de esteroides / Kaposi´s sarcoma due to high dose of steroids

Se describe el caso clínico de una paciente de 42 años de edad, quien necesitó tratamiento reiterado con prednisona y a partir de entonces comenzó a presentar lesiones cutáneas en ambas piernas. Luego de ser valorada por especialistas en reumatología y dermatología fue remitida al Servicio de Angiología, donde se le realizó biopsia (con el uso de la coloración de hematoxilina-eosina), cuyos resultados fueron compatibles con un sarcoma de Kaposi, atribuible al suministro de esteroides(AU)

The case report of a 42 years patient is described who needed repeated treatment with prednisone and from that time on she began to present cutaneous lesions in both legs. After being evaluated by reumatology and dermatology specialists, she was referred to the Angiology Service, where a biopsy was taken (with the use of the hematoxylin-eosine stain) which results were compatible with a Kaposi´s sarcoma, attributable to steroids supply(AU)

Retroperitoneal fibrosis: case series of five patients and review of the literature.

Chronic periaortitis (CP) is an umbrella term used to describe a group of nosologically allied conditions that include idiopathic retroperitoneal fibrosis (Ormond's disease), inflammatory abdominal aortic aneurysm, and perianeurysmal retroperitoneal fibrosis. Retroperitoneal fibrosis encompasses a range of diseases characterized by the presence of a fibro-inflammatory tissue, which usually surrounds the abdominal aorta and the iliac arteries and extends into the retroperitoneum to envelop neighboring structures-ureters. Retroperitoneal fibrosis is generally idiopathic, but can also be secondary to the use of certain drugs, malignant diseases, infections, and surgery. Here we describe a 5 years follow-up (2006-2011) of 5 patients admitted to our hospital with symptoms, laboratory, imaging and pathologic finding compatible with retroperitoneal fibrosis. We review our clinical course of our patient with respect to the literature.

Actualización de hepatitis autoinmune en pediatría: Reporte de un caso clínico y revisión de la literatura / Update on autoimmune hepatitis in pediatrics: Report of a clinical case and review of literature

La hepatitis autoinmune (HAI) es un proceso inflamatorio crónico y progresivo del hígado, de etiología desconocida. Se caracteriza por presentar niveles elevados de aminotransferasas e inmunoglobulina G (IgG), autoanticuerpos séricos y actividad necroinflamatoria en la histología; en ausencia de una patología conocida que pueda afectar al hígado. Predomina en el sexo femenino. Se describen dos tipos de acuerdo a los autoanticuerpos encontrados. El tratamiento se basa en la inmunosupresión, con el objetivo de evitar la progresión a cirrosis y falla hepática. Los pacientes no respondedores, o que debutan con falla hepática aguda pueden requerir de trasplante hepático. El objetivo es realizar una revisión del tema a partir de un caso clínico. Se presenta a una adolescente de 14 años, derivada para estudio por probable patología autoinmune. El diagnóstico inicial fue de probable HAI, que se presentó como una falla hepática grave-fulminante. Posteriormente al descartar otras etiologías (infecciosas y metabólicas), presentar autoanticuerpos antinucleares (ANA) positivos y evidenciar cirrosis en la punción biópsica hepática, se confirmó el diagnóstico de cirrosis autoinmune. Se inició tratamiento con prednisona y azatioprina, con buena respuesta clínica y de laboratorio. El diagnóstico oportuno de HAI y el inicio del tratamiento en forma temprana evitan en la mayoría de los casos la progresión de la enfermedad y el requerimiento de trasplante hepático.

Autoimmune hepatitis is a chronic and progressive inflammatory process of the liver, of unknown etiology. It is characterized by presenting increased levels of aminotransferases and immunoglobulin G (IgG), serum antibodies and histologic necro-inflamatory activity, with unknown pathology that may affect the liver. It is more frequent in women, Two types of autoimmune hepatitis are described, according to the antibodies found. Treatment is based on immunosuppression, with the objective of avoiding progression to cirrhosis and liver failure. Patients who do not respond or who present with severe liver failure may require liver transplant. The objective of the study is to review the topic based on a clinical case. The study presents the case of a 14 year old adolescent who is referred to be examined for possible autoimmune pathology. Initial diagnosis was probable autoimmune hepatitis, which presented with acute liver failure. Subsequently, when other etiologies were discarded (infectious and metabollic), positive antinuclear autoantibodies were present and liver hepatic biopsy evidenced cirrhosis, autoimmune cirrhosis was confirmed. Treatment was initiated with prednisone and azathioprine, being the clinical and lab response good. In most cases, timely diagnosis of autoimmune hepatitis and early initiation of treatment avoid progression of the disease and the need for a liver transplant.

Retroperitoneal fibrosis: case series of five patients and review of the literature / Fibrose retroperitoneal: série de cinco casos e revisão da literatura

ABSTRACT Chronic periaortitis (CP) is an umbrella term used to describe a group of nosologically allied conditions that include idiopathic retroperitoneal fibrosis (Ormond's disease), inflammatory abdominal aortic aneurysm, and perianeurysmal retroperitoneal fibrosis. Retroperitoneal fibrosis encompasses a range of diseases characterized by the presence of a fibro-inflammatory tissue, which usually surrounds the abdominal aorta and the iliac arteries and extends into the retroperitoneum to envelop neighboring structures-ureters. Retroperitoneal fibrosis is generally idiopathic, but can also be secondary to the use of certain drugs, malignant diseases, infections, and surgery. Here we describe a 5 years follow up (2006-2011) of 5 patients admitted to our hospital with symptoms, laboratory, imaging and pathologic finding compatible with retroperitoneal fibrosis. We review our clinical course of our patient with respect to the literature.

RESUMO Periaortite crônica (PC) é um termo genérico usado para descrever um grupo de condições nosologicamente ligadas que incluem a fibrose idiopática retroperitoneal (doença de Ormond), o aneurisma da aorta abdominal inflamatório e a fibrose retroperitoneal perianeurismática. O termo fibrose retroperitoneal engloba uma gama de doenças que se caracterizam pela presença de um tecido fibroinflamatório que geralmente envolve a aorta abdominal e as artérias ilíacas, se estende ao retroperitôneo e envolve estruturas ureterais vizinhas. A fibrose retroperitoneal geralmente é idiopática, mas pode também ser secundária ao uso de determinados fármacos, doenças malignas, infecções e cirurgia. Este estudo descreve o seguimento por cinco anos (2006-2011) de cinco pacientes internados em nosso hospital que apresentavam sintomas e achados laboratoriais, de imagem e patológicos compatíveis com a fibrose retroperitoneal. Revisou-se a evolução clínica dos pacientes, que foi comparada com os achados da literatura.

Síndrome de Tolosa-Hunt / Tolosa-Hunt syndrome

RESUMO A Síndrome de Tolosa Hunt é uma doença rara, cuja etiopatogenia é desconhecida. Apresenta-se como uma oftalmoplegia dolorosa de um ou mais nervos cranianos oculomotores, que regride espontaneamente e responde bem ao tratamento com corticoides. O presente estudo trata-se de um relato de caso de um paciente que apresentou seguidos casos de oftalmoplegias dolorosas, envolvendo o nervo oculomotor e o abducente sendo tratado com corticoesteroides obteve uma resposta dramática. Objetiva-se ainda descrever as características fisiopatológicas, clínicas, o diagnóstico diferencial, visto que é um diagnóstico de exclusão, e medidas terapêuticas instituídas de acordo com o International Headache Society 2004 (ISH-2004) através da apresentação do caso clínico conduzido com as normas do estudo supracitado.

ABSTRACT Tolosa Hunt syndrome is a rare disease, whose etiology is unknown. It presents as a painful ophthalmoplegia of one or more oculomotor cranial nerves, which resolves spontaneously and responds well to treatment with corticosteroids. This study is a case report of a patient who had followed painful oftalmoplegias cases involving the oculomotor and abdcens nerves being treated with corticosteroids, obtaining a dramatic response. Another goal is to describe the pathophysiological, clinical, differential diagnosis, since it is a diagnosis of exclusion, and the therapeutic measures adopted according to the International Headache Society 2004 (ISH-2004) by presenting the case study conducted with the standards the study cited above.

Pioderma gangrenoso: presentación de un caso / Gangrenous pyoderma: case presentation

El pioderma gangrenoso es una enfermedad de etiología desconocida, con variedad de manifestaciones clínicas especialmente cutáneas, de difícil diagnóstico, de evolución crónica, con exacerbaciones y remisiones frecuentes, en la cual no existe un tratamiento de elección efectivo, por lo que su respuesta a la terapia es muy variable. Se presentó el caso de una mujer, mestiza, de 64 años de edad, con antecedentes patológicos personales de gastritis, hipertensión arterial y cardiopatía isquémica, con un año de evolución de una lesión ulcerada en primer artejo de pie derecho, con fracasos terapéuticos anteriores al diagnóstico. Se le realizaron estudios hematológicos e histopatológico, confirmándose un pioderma gangrenoso, que respondió favorablemente a la terapia con prednisona, dapsona y oxigenación hiperbárica(AU)

The gangrenous pyoderma is a disease of unknown etiology, with various clinical manifestations, especially cutaneous ones, of difficult diagnosis, chronic evolution and frequent exacerbations and remissions. There is not an effective elective treatment, so the answer to therapy is very variable. We presented the case of a female patient, mestiza, aged 64 years, with personal pathological antecedents of gastritis, arterial hypertension and ischemic cardiopathy, showing a year of evolution ulcerous lesion on the first joint of the right foot with therapeutic failures before the diagnosis. We ordered hematologic and histopathologic studies confirming a gangrenous pyoderma that favorably answered to the therapy with prednisone, dapsone and hyperbaric oxygenation(AU)

Effects of prednisone on eosinophilic bronchitis in asthma: a systematic review and meta-analysis, / Efeitos da prednisona na bronquite eosinofílica na asma: revisão sistemática e meta-análise

OBJECTIVE: To evaluate the effect size of oral corticosteroid treatment on eosinophilic bronchitis in asthma, through systematic review and meta-analysis. METHODS: We systematically reviewed articles in the Medline, Cochrane Controlled Trials Register, EMBASE, and LILACS databases. We selected studies meeting the following criteria: comparing at least two groups or time points (prednisone vs. control, prednisone vs. another drug, or pre- vs. post-treatment with prednisone); and evaluating parameters before and after prednisone use, including values for sputum eosinophils, sputum eosinophil cationic protein (ECP), and sputum IL-5-with or without values for post-bronchodilator FEV1-with corresponding 95% CIs or with sufficient data for calculation. The independent variables were the use, dose, and duration of prednisone treatment. The outcomes evaluated were sputum eosinophils, IL-5, and ECP, as well as post-bronchodilator FEV1. RESULTS: The pooled analysis of the pre- vs. post-treatment data revealed a significant mean reduction in sputum eosinophils (↓8.18%; 95% CI: 7.69-8.67; p < 0.001), sputum IL-5 (↓83.64 pg/mL; 95% CI: 52.45-114.83; p < 0.001), and sputum ECP (↓267.60 µg/L; 95% CI: 244.57-290.63; p < 0.0001), as well as a significant mean increase in post-bronchodilator FEV1 (↑8.09%; 95% CI: 5.35-10.83; p < 0.001). CONCLUSIONS: In patients with moderate-to-severe eosinophilic bronchitis, treatment with prednisone caused a significant reduction in sputum eosinophil counts, as well as in the sputum levels of IL-5 and ECP. This reduction in the inflammatory response was accompanied by a significant increase in post-bronchodilator FEV1. .

OBJETIVO: Avaliar o tamanho do efeito do tratamento com prednisona oral na bronquite eosinofílica na asma por meio de revisão sistemática e meta-análise. MÉTODOS: Revisão sistemática de artigos nas bases de dados do Medline, Cochrane Controlled Trials Register, EMBASE e LILACS. Foram selecionados estudos que preencheram os seguintes critérios: comparar ao menos dois grupos ou dois momentos (prednisona vs. controle, prednisona vs. outra droga ou pré vs. pós-tratamento com prednisona) e avaliar parâmetros antes e depois do uso de prednisona, incluindo eosinófilos, proteína catiônica eosinofílica (PCE) e IL-5 no escarro - com ou sem valores de VEF1 pós-broncodilatador - com os IC95% correspondentes ou com dados suficientes para calculá-los. As variáveis independentes foram uso e dose de prednisona e duração do tratamento. Os desfechos avaliados foram eosinófilos, IL-5 e PCE no escarro, bem como VEF1 pós-broncodilatador. RESULTADOS: A análise conjunta dos dados de pré e pós-tratamento revelou uma redução significativa nas médias de eosinófilos no escarro (↓8,18%; IC95%: 7,69-8,67; p < 0,001), IL-5 no escarro (↓83,64 pg/mL; IC95%: 52,45-114,83; p < 0,001), PCE no escarro (↓267,60 μg/L; IC95%: 244,57-290,93; p < 0,001), assim como um aumento significativo na média de VEF1 pós-broncodilatador (↑8,09%; IC95%: 5,35-10,83; p < 0,001). CONCLUSÕES: Em pacientes com bronquite eosinofílica de moderada a grave, o tratamento com prednisona determinou uma redução significativa nos níveis de eosinófilos no escarro, assim como nos níveis de IL-5 e PCE no escarro. Essa redução na resposta inflamatória foi acompanhada de um aumento significativo do VEF1 pós-broncodilatador. .

Pioderma gangrenoso. Presentación de un caso / Gangrenous pyoderma. Case presentation

El pioderma gangrenoso es una enfermedad de etiología desconocida, con variedad de manifestaciones clínicas especialmente cutáneas, de difícil diagnóstico, de evolución crónica, con exacerbaciones y remisiones frecuentes, en la cual no existe un tratamiento de elección efectivo, por lo que su respuesta a la terapia es muy variable. Se presentó el caso de una mujer, mestiza, de 64 años de edad, con antecedentes patológicos personales de gastritis, hipertensión arterial y cardiopatía isquémica, con un año de evolución de una lesión ulcerada en primer artejo de pie derecho, con fracasos terapéuticos anteriores al diagnóstico. Se le realizaron estudios hematológicos e histopatológico, confirmándose un pioderma gangrenoso, que respondió favorablemente a la terapia con prednisona, dapsona y oxigenación hiperbárica.

The gangrenous pyoderma is a disease of unknown etiology, with various clinical manifestations, especially cutaneous ones, of difficult diagnosis, chronic evolution and frequent exacerbations and remissions. There is not an effective elective treatment, so the answer to therapy is very variable. We presented the case of a female patient, mestiza, aged 64 years, with personal pathological antecedents of gastritis, arterial hypertension and ischemic cardiopathy, showing a year of evolution ulcerous lesion on the first joint of the right foot with therapeutic failures before the diagnosis. We ordered hematologic and histopathologic studies confirming a gangrenous pyoderma that favorably answered to the therapy with prednisone, dapsone and hyperbaric oxygenation.