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.

Osteonecrosis múltiple inducida por glucocorticoides / Multiple osteonecrosis induced bye glucocorticoids / Osteonecrose múltipla induzida por glicocorticóides

La osteonecrosis múltiple es una entidad poco frecuente que se define por el compromiso de al menos tres regiones diferentes. Es indispensable el abordaje multidisciplinario de los pacientes que la padecen tanto para el diagnóstico como el tratamiento oportuno. Presentamos el caso clínico de un paciente joven que presenta una osteonecrosis múltiple con compromiso de ambas caderas, hombros, rodillas, codo derecho y cuello de pie izquierdo. El principal factor de riesgo presente en nuestro caso es el consumo de glucocorticoides.

Multiple osteonecrosis is a rare entity that is defined by the involvement of at least three different regions. A multidisciplinary approach to patients who suffer from it is essential for both diagnosis and timely treatment. We present the clinical case of a young patient who presented multiple osteonecrosis with involvement of both hips, shoulders, knees, right elbow, and neck of the left foot. The main risk factor present in our case is the consumption of glucocorticoids.

A osteonecrose múltipla é uma entidade rara que se define pelo envolvimento de pelo menos três regiões diferentes. Uma abordagem multidisciplinar aos pacientes que sofrem com isso é essencial para o diagnóstico e tratamento oportuno. Apresentamos o caso clínico de um paciente jovem que apresenta osteonecrose múltipla envolvendo quadris, ombros, joelhos, cotovelo direito e pescoço do pé esquerdo. O principal fator de risco presente no nosso caso é o consumo de glicocorticóides.

Coriorretinopatia de Birdshot: relato de caso e perspectivas sobre o tratamento / Birdshot chorioretinopathy: a case report and perspectives on its treatment

RESUMO A coriorretinopatia de Birdshot é uma uveíte posterior bilateral crônica rara que acomete, preferencialmente, mulheres de meia-idade. O quadro clínico é composto de pouco ou nenhum processo inflamatório de segmento anterior, associado a vitreíte e lesões coriorretinianas ovoides branco-amareladas de característica hiperfluorescente na angiofluoresceinografia e hipofluorescente na angiografia com indocianina verde. O tratamento se dá por meio de corticoides e outras drogas imunossupressoras. Todavia, em alguns casos, a doença é refratária a tal terapêutica, sendo necessário lançar mão de outras drogas, como os agentes biológicos. O presente artigo busca relatar um caso de coriorretinopatia de Birdshot em ajuste de terapia imunossupressora que evoluiu com má resposta às drogas iniciais e bom controle após uso de imunobiológico e discutir as opções terapêuticas disponíveis atualmente.

ABSTRACT Birdshot chorioretinopathy is a rare chronic bilateral posterior uveitis that preferentially affects middle-aged women. The clinical picture is composed of little or no anterior segment inflammatory process, associated with vitritis and yellowish-white ovoid chorioretinal lesions with hyperfluorescent characteristics on fluorescein angiography and hypofluorescent characteristics on green indocyanine green angiography. Treatment is with corticosteroids and other immunosuppressive drugs. However, in some cases, the disease is refractory to such therapy, making it necessary to resort to other drugs such as biological agents. The present article seeks to report a case of Birdshot chorioretinopathy in an adjustment of immunosuppressive therapy that evolved with poor response to the initial drugs and good control after the use of immunobiologicals and discuss the currently available therapeutic options.

Corticoides sistémicos en el tratamiento de la radiodermitis grave: una serie de casos / Systemic corticoids in the treatment of severe radiodermitis: a series of cases

Introducción: la radiodermitis es uno de los efectos secundarios más frecuentes de la radioterapia y afecta aproximadamente al 95% de los pacientes que la reciben. La radiodermitis aguda se presenta dentro de los 90 días posteriores al inicio del tratamiento, tiene un profundo impacto en la calidad de vida de los pacientes y puede ser la causa de la interrupción prematura de la radioterapia. Su tratamiento es complejo y el papel de los corticoides sistémicos en él aún no ha sido evaluado. Materiales y métodos: estudio descriptivo de 6 pacientes mayores de 18 años con radiodermitis grave, tratados con corticoides sistémicos al no responder a la terapia tópica inicial. Hubo un seguimiento de 6 meses, entre el 1 de junio de 2019 y el 30 de mayo de 2020, en el Servicio de Dermatología de un hospital de alta complejidad. Resultados: se indicó tratamiento con corticoides sistémicos en dosis de meprednisona 40 mg/día o equivalentes, durante 5 días, con resolución completa del cuadro en un período máximo de 15 días. Discusión: en la bibliografía no hemos encontrado trabajos científicos que comuniquen o evalúen la utilidad de los corticoides sistémicos en la radiodermitis grave. Proponemos, entonces, demostrar su utilidad en esta patología. Conclusión: el objetivo de este trabajo es comunicar nuestra experiencia en pacientes con radiodermitis aguda grave, con gran repercusión en el estado general, que evolucionaron con una rápida resolución del cuadro y un adecuado manejo sintomático, mediante el uso de corticoides sistémicos. (AU)

Introduction: radiodermitis is one of the most frequent side effects of radiotherapy and affects approximately 95% of the patients who receive it. Acute radiodermitis occurs within 90 days after the start of treatment, has a profound impact on the quality of life of patients and may be the cause of premature discontinuation of radiotherapy. Its treatment is complex and the role of systemic corticosteroids in it has not yet been evaluated. Materials and methods: descriptive study of 6 patients older than 18 years with severe radiodermatitis, treated with systemic corticosteroids when they did not respond to initial topical therapy. With a 6-month follow-up, between June 1, 2019 and May 30, 2020 at the Dermatology Service of a high complexity hospital. Results: treatment with systemic corticosteroids was indicated at a dose of meprednisone 40 mg/day or equivalent, for 5 days, with complete resolution of the symptoms in a maximum period of 15 days. Discussion: in the literature, we have not found scientific papers that report or evaluate the usefulness of systemic corticosteroids in severe radiodermatitis. We propose to demonstrate their usefulness in this pathology. Conclusion: the objective of this work is to communicate our experience in patients with severe acute radiodermatitis, with great repercussions on the general state, who evolved with rapid resolution of the symptoms and adequate symptomatic management, with the use of systemic corticosteroids. (AU)

Proteinosis alveolar pulmonar: reporte de caso en paciente con linfoma no hodgkin mesentérico / Pulmonary alveolar proteinosis: report of a case in patient with history of mesenteric non-hodgkin lymphoma

Objetivos: Exponer en base a un caso clínico una revisión de literatura reciente sobre Proteinosis alveolar pulmonar (PAP). Presentación del caso: Revisión de ficha clínica electrónica de paciente de sexo masculino de 76 años con antecedente de linfoma no Hodgkin (LNH) mesentérico, estirpe B de tipo folicular, quien acude en forma reiterada a servicios de urgencia por cuadro de dos meses de evolución de fiebre, compromiso del estado general y tos. Al examen físico destaca crépitos en hemitórax derecho. Se realizó Tomografía computada (TC) de tórax que mostró opacidades pulmonares en vidrio esmerilado periféricas, con engrosamiento septal liso y algunas bandas retráctiles subpleurales. Se manejó ambulatoriamente con Azitromicina por una semana. Sin respuesta, evoluciona con baja de peso y diaforesis nocturna. Nueva TC de tórax en enero 2021, muestra nuevos focos de "empedrado" periféricos extensos, descrito como "crazy paving", focos de vidrio esmerilado difusos extensos, sin condensación y con resolución de bandas retráctiles. Estudio infeccioso negativo. Se realiza lavado broncoalveolar (LBA) con estudio histológico de líquido que muestra proceso inflamatorio crónico con abundantes macrófagos y material proteináceo. Discusión: Tras el descarte de patología infecciosa, se orientó el estudio hacia otras causas de enfermedad parenquimatosa pulmonar. Así, resulta fundamental la descripción correcta del patrón imagenológico tomográfico y el LBA que resultaron compatibles con PAP. Conclusión: La PAP es una patología infrecuente, pero una historia clínica adecuada, el planteamiento de diagnósticos diferenciales de neumonía de lenta resolución, asociado el reconocimiento del patrón radiológico característico y el estudio histológico con LBA permiten realizar un diagnóstico certero, con gran implicancia terapéutica.

Objective: To present a review of recent literature on pulmonary alveolar proteinosis (PAP) based on a clinical case. Presentation of the case: Review of electronic clinical record of a 76 years-old masculine patient with history of mesenteric Non-Hodgkin Lymphoma (NHL) follicular-type lineage B, who repeatedly attended the emergency services due to a two-month history of symptoms of fever, compromised general condition and cough. Physical examination revealed crepitus in the right hemithorax. Chest computed tomography (CT) was performed, which showed peripheral ground-glass pulmonary opacities, with smooth septal thickening and some subpleural retractile bands. He was managed on an outpatient basis with Azithromycin for one week. No response; evolves with weight loss and night diaphoresis. New chest CT in January 2021, shows new extensive peripheral "cobblestone" foci, described as "crazy paving", extensive diffuse ground glass foci, without condensation and with resolution of retractile bands. Negative infectious study. Bronchoalveolar lavage (BAL) was performed with a histological study of the fluid showing a chronic inflammatory process with abundant macrophages and proteinaceous material. Discussion: After ruling out infectious pathology, the study was oriented towards other causes of pulmonary parenchymal disease. Thus, the correct description of the tomographic imaging pattern and the BAL that were compatible with PAP are essential. Conclusion: PAP is an infrequent pathology, but an adequate clinical history, the approach to differential diagnoses of slowly resolving pneumonia, associated with the recognition of the characteristic radiological pattern and the histological study with BAL allow an accurate diagnosis to be made, with great therapeutic implications.

Retinopatia hipertensiva maligna secundária a lúpus eritematoso sistêmico em adolescente / Malignant hypertensive retinopathy secondary to systemic lupus erythematous in adolescent

RESUMO O lúpus eritematoso sistêmico é uma doença que pode apresentar comprometimento oftalmológico geralmente benigno, sendo as alterações mais encontradas a síndrome do olho seco e a catarata. Nos pacientes com a doença estável, o dano oftalmológico parece estar relacionado ao tratamento sistêmico a longo prazo, o que enfatiza a importância do exame oftalmológico completo de rotina. Porém, quando a doença está em franca atividade e, em especial, quando há o envolvimento renal, deve-se iniciar o tratamento precoce com corticoterapia sistêmica e com medidas de suporte, para se evitarem repercussões mais complexas, como as crises hipertensivas que podem levar ao óbito.

ABSTRACT Systemic lupus erythematosus may present ophthalmological involvement, usually benign, and the most common changes are dry eye syndrome and cataract. In patients with stable disease, ophthalmologic damage appears to be related to long-term systemic treatment, emphasizing the importance of routine complete ophthalmologic examination. However, in full-blown disease, especially when there is renal involvement, early treatment should start with systemic steroid therapy and supportive measures, to avoid major repercussions, such as hypertensive crises that may lead to death.

Síndrome inflamatorio multisistémico postinfección por SARS-CoV-2: a propósito de un caso clínico / Post SARS-CoV-2 multisystem inflammatory syndrome: a clinical case / Síndrome inflamatória pós-infecção por SARS-CoV-2: relato de caso

En Uruguay, la pandemia por SARS-CoV-2 ha generado menos afectación en pacientes de la edad pediátrica, aumentando el número de casos positivos en este grupo etario de forma proporcional al aumento de la circulación del virus. La forma de presentación es generalmente asintomática o con síntomas respiratorios leves a moderados. El síndrome inflamatorio multisistémico postinfección por SARS-CoV-2 (SIM-C) ha sido descrito como una de las principales complicaciones postinfección. Se describe el primer caso de un paciente con SIM-C en la ciudad de Paysandú, Uruguay. Se trata de un escolar de 6 años que cursó una infección por SARS-CoV-2 un mes previo. Se presenta con un cuadro febril de 4 días de evolución asociado a lesiones de piel e inyección conjuntival y odinofagia, con parámetros inflamatorios elevados y afectación cardiológica. Se traslada a CTI local con buena evolución posterior. El alto índice de sospecha de SIM-C mejora el diagnóstico y en consecuencia la morbimortalidad de la enfermedad.

Summary: In Uruguay, the SARS-CoV-2 pandemic has affected the pediatric population less and the number of positive cases in this age group has increased proportionally to the rise of the virus circulation. The presentation is generally asymptomatic or with mild to moderate respiratory symptoms. Post-Infection Multisystem Inflammatory Syndrome by SARS-CoV-2 (MIS-C) has been described as one of the main post-infection complications. We describe the first case of a patient with MIS-C in the city of Paysandú, Uruguay. It is a 6-year-old schoolboy who had had a SARS-CoV-2 infection a month earlier. He showed a 4-day history of fever associated with skin lesions and conjunctival injection and odynophagia, with high inflammatory parameters and cardiac involvement. He was transferred to a local ICU and had a good subsequent evolution. The high index of suspicion of MIS-C improves the diagnosis and consequently the morbidity and mortality rates of the disease.

No Uruguai, a pandemia de SARS-CoV-2 gerou menos afetação em pacientes pediátricos, e o número de casos positivos nessa faixa etária aumentou proporcionalmente ao aumento da circulação do vírus. A forma de apresentação é geralmente assintomática ou com sintomas respiratórios leves a moderados. A Síndrome Inflamatória Multissistêmica Pós-Infecção por SARS-CoV-2 (MIS-C) tem sido descrita como uma das principais complicações pós-infecção. Descreve-se o primeiro caso de paciente com MIS-C na cidade de Paysandú, Uruguai. Ele é um estudante de 6 anos de idade que tinha tido uma infecção por SARS-CoV-2 um mês antes. Apresentou história de febre de 4 dias associada a lesões cutâneas e hiperemia conjuntival e odinofagia, com parâmetros inflamatórios elevados e envolvimento cardiológico. Foi transferido para uma UTI local com boa evolução posterior. O alto índice de suspeita de MIS-C melhora o diagnóstico e, consequentemente, a morbimortalidade da doença.

Mielorradiculopatia esquistossomótica: relato de caso em paciente pediátrico / Schistosomal Myeloradiculopathy: case report in a pediatric patient

A esquistossomose é uma endemia parasitária típica das Américas, Ásia e África. A Mielorradiculopatia Esquistossomótica surge como uma evolução severa da infecção por esquistossomose e, apesar de muito comum, sua prevalência em áreas endêmicas vem sendo subestimada. Objetivo: relatar caso de Mielorradiculopatia Esquistossomótica ocorrido em paciente pediátrico. Metodologia: estudo descritivo do tipo Relato de Caso retrospectivo, submetido e aprovado pelo Comitê de Ética em Pesquisa do Centro Universitário CESMAC, CAAE: 28835220.0.0000.0039, N.º do Parecer: 3.898.292. Relato de caso: paciente do sexo masculino, previamente hígido, 11 anos, iniciou quadro com história álgica aguda em membros inferiores que piorava no período da noite acompanhada de relato de febre. Quadro clínico evoluiu com lombalgia, disúria, oligúria, posterior anúria e formação de globo vesical. Evoluiu, também, com paresia de membros inferiores. A investigação realizou-se com Exame Parasitológico de Fezes positivo para esquistossomose, além de Ressonância Magnética de coluna lombo-sacra que corroboraram com a hipótese diagnóstica. Instituiu-se tratamento com Albendazol, Praziquantel e pulsoterapia com Metilprednisolona durante internação. Paciente teve alta hospitalar com melhora de quadro neurológico, em uso de prednisona 40 mg/dia. Conclusão: a MRE constitui a forma mais grave dentre as manifestações ectópicas da esquistossomose. A dificuldade do reconhecimento do quadro clínico e a limitação no acesso aos métodos complementares diagnósticos contribuem para o subdiagnóstico da enfermidade, acarretando sequelas graves para os portadores da doença e ocultando sua importância epidemiológica principalmente em pacientes pediátricos e jovens. (AU)

Schistosomiasis is a parasitic endemic typical of the Americas, Asia and Africa. Schistosomal Myeloradiculopathy is a severe evolution of schistosomiasis infection and, although very common, the prevalence in endemic areas has been underestimated. Objective: to report Schistosomal Myeloradiculopathy case in a pediatric patient. Methodology: descriptive study of the type Case Report retrospective, submitted and approved by the Research Ethics Committee of the CESMAC University Center, CAAE: 28835220.0.0000.0039, Opinion N.º: 3.898.292. Case report: a previously healthy 11-year-old boy, started with a history of acute pain in lower limbs that worsened during the night accompanied of fever. Evolved with low back pain, dysuria, oliguria, subsequent anuria, vesical globe formation and lower limbs paresis. The investigation resulted in positive stool examination for schistosomiasis and magnetic resonance imaging of lumbosacral spine that corroborated the diagnostic hypothesis. The treatment included Albendazol, Praziquantel and pulsetherapy with Methylprednisolone during hospitalization. The patient was discharged from the hospital with improved neurological status, using prednisone 40 mg/day. Conclusion: Schistosomal Myeloradiculopathy is the most severe form of the ectopic manifestations of schistosomiasis. The difficulty in recognizing the clinical condition and the limitation of access to complementary diagnostic methods contributes to the underdiagnosis of the disease, causing severe sequels for patients with disease and hiding its epidemiological importance, especially in pediatric and young patients. (AU)

IL-6 levels are associated with clinical status in patients with Myasthenia Gravis / Os níveis de IL-6 estão associados com o status clínico de pacientes com Miastenia Gravis

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease marked by fluctuating course of muscle weakness. OBJECTIVES: The current study was designed to evaluate plasma levels of cytokines (IL-2, IL-4, IL-6, IL-10, TNF, IFN-γ, and IL17A) in patients with MG and controls and to investigate whether cytokines levels are associated with clinical parameters. This study was conducted at the Neuromuscular Diseases Outpatient Clinic, Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Brazil. METHODS: Peripheral blood was drawn, and plasma levels of cytokines were measured by cytometric bead array (CBA) in 80 treated patients with MG and 50 controls. The MG Composite (MGC) was used to evaluate muscle weakness and severity of typical motor symptoms of MG. RESULTS: Patients with MG undergoing treatment exhibit lower levels of all evaluated cytokines compared to controls. There was a negative correlation between IL-6 levels and the MG Composite score, indicating that higher levels of IL-6 were associated with better control of the disease. CONCLUSION: This exploratory study suggests that IL-6 is associated with MG clinical status, as assessed by the MGC.

INTRODUÇÃO: A Miastenia Gravis (MG) é uma doença autoimune caracterizada por fraqueza muscular flutuante. OBJETIVOS: avaliar os níveis plasmáticos de citocinas (IL-2, IL-4, IL-6, IL-10, TNF, IFN-γ, e IL-17A) em pacientes com MG e controles e investigar se essas citocinas estão associadas com parâmetros clínicos. Este estudo foi conduzido no ambulatório de doenças neuromusculares do Hospital das Clínicas, Universidade Federal de Minas Gerais (UFMG), Brasil. MÉTODOS: Foi coletado sangue periféricos e os níveis plasmáticos das citocinas foram medidos por citometria em 80 pacientes com MG tratados e em 50 controles. O MG composite (MGC) foi utilizado para avaliar a fraqueza muscular e a gravidade dos sintomas motores típicos da MG. RESULTADOS: Os pacientes com MG em tratamento apresentaram menores níveis de todas as citocinas avaliadas comparados ao controle. Houve uma correlação negativa entre os níveis de IL-6 e o MGC, indicando que altos níveis de IL-6 estão associados com melhor controle da doença. CONCLUSÃO: este estudo exploratório sugere que a IL-6 está associada com o status clínico da MG, quando avaliado pelo MGC.

Rinosinusitis micótica alérgica con destrucción de base de cráneo / Allergic fungal rhinosinusitis with skull base destruction

La sinusitis micótica alérgica es una enfermedad inflamatoria de la mucosa rinosinusal producida por hongos que pueden aislarse de la cavidad de nasal de individuos sanos. Se produce indirectamente por los hongos que actúan como antígeno y desencadenan una reacción inmunológica mediada por IgE que origina pólipos y una secreción mucosa espesa con detritus e hifas denominada mucina. Su presentación clínica más frecuente es una sinusitis crónica unilateral o bilateral con pólipos. Con menos frecuencia, las sustancias originadas por la desgranulación de los eosinófilos producen remodelación o destrucción ósea y la sinusitis puede simular una neoplasia. Se describe el caso clínico de un paciente que padeció una sinusitis micótica alérgica con destrucción ósea masiva de la base del cráneo y que tuvo extensión intracraneal extradural e intraorbitaria de la enfermedad. Fue tratado con éxito mediante cirugía y corticoides. (AU)

Allergic fungal sinusitis is an inflammatory disease of the rhinosinusal mucosa caused by fungi that can be isolated from the nasal cavity of healthy individuals. The pathology is produced indirectly by the fungus that acts as an antigen and triggers an IgE-mediated allergic reaction that causes polyps and a thick mucous discharge with detritus and hyphae called mucin. Its most common clinical presentation is unilateral or bilateral chronic sinusitis with polyps. Less commonly, substances originated by the degranulation of eosinophils cause bone remodeling or destruction, and sinusitis can simulate a neoplasia. We describe the clinical case of a patient who suffered from allergic fungal sinusitis with massive bone destruction of the skull base and who had intracranial, extradural and intraorbital extension of the disease. He was successfully treated with surgery and corticosteroids.Key words: allergic fungal sinusitis, intracranial extension, endoscopic surgery, transorbital transpalpebral approach. (AU)

Central nervous system international prognostic index impacts overall survival in diffuse large b-cell lymphoma treated with r-chop in a third level cancer center from Mexico: a survey of 642 patients

Background: Central nervous system international prognosis index (CNS-IPI) is validated in European and the USA cancer databases. However, no validation has been done in Mexican population. Objective: The objective of the study was to assess the impact of the CNS-IPI on central nervous system (CNS) relapse and survival in Mexican patients with diffuse large B-cell lymphoma (DLBCL). Methods: In this retrospective analysis, clinical, biochemical, and histological variables and the CNS-IPI were analyzed. Results: Six hundred and forty-two patients with DBLCL were included in the study. The mean ± SD age was 56.8 ± 14.9 years. Most had an ECOG of 0-1: 75% (n = 484) had absence of B-symptoms and advanced disease (clinical stage: III-IV, n = 433, 67.4%). According to the CNS-IPI, almost one-half were in the low-risk category. According to the CNS-IPI, CNS relapse rate was 1.36% (95% CI: 83.2-92.8), 3.1% (95% CI: 132.4-162.8), and 7.4% (95% CI 61-91) for patients in the low-, intermediate-, and high-risk categories, respectively. The median overall survival in the high-risk group (CNS-IPI) was 22 months, and it has not been achieved after 80 months of follow-up for the other groups. Conclusions: CNS-IPI was associated with survival; therefore, we propose its use as a prognostic tool for prospective validation.

Primary myocardial diffuse large B cell lymphoma: report of one case / Linfoma difuso de células grandes miocárdico primario: informe de un caso

ABSTRACT Primary myocardial involvement of Diffuse Large B-Cell lymphoma is extremely rare, accounting for 0.5 % of all lymphomas. We report a 65-year-old male, presenting with an acute cardiac tamponade, which was drained. A pericardial window with myocardial biopsy was carried out, disclosing a diffuse large B cell lymphoma. He received 6 cycles of rituximab, cyclophosphamide, vincristine, and prednisone (R-CVP), without response. Finally, a palliative chemotherapy with gemcitabine plus oxaliplatin was prescribed.

El linfoma difuso de células grandes B, primario del miocardio es muy raro. Presentamos un varón de 65 años que se presentó con un taponamiento cardíaco agudo que fue drenado. La biopsia miocárdica un mostró linfoma difuso de células grandes B, primario de miocardio. El paciente recibió 6 ciclos de quimioterapia con rituximab, ciclofosfamida, vincristina y prednisona sin respuesta. Finalmente se optó por una quimioterapia paliativa con gemcitabina y oxaliplatino.

Penfigoide ampollar por teneligliptina / Teneligliptin-induced bullous pemphigoid

El Penfigoide Ampollar por fármacos es una variedad de penfigoide ampollar en la que un medicamento actúa como causa o desencadenante de la enfermedad. Clínicamente se manifiesta como ampollas tensas de contenido seroso localizadas fundamentalmente en abdomen, miembros superiores y raíz de muslos. El estudio histopatológico evidencia ampollas subepidérmicas e infiltrado dérmico mixto con eosinófilos. La inmunofluorescencia directa de piel sana perilesional muestra depósitos lineales de IgG y/o C3. Sin embargo, en hasta 15% de los casos puede ser negativa. Los pacientes diabéticos que reciben tratamiento con fármacos del grupo de los inhibidores de la dipeptidilpeptidasa 4, también conocidos como gliptinas, tienen 3 veces más riesgo de desarrollar esta patología. El tiempo de latencia entre el inicio de la medicación y la aparición de los síntomas es variable, con una media de 10 meses. El tratamiento radica en la suspensión inmediata del fármaco causal y la administración de prednisona oral 0,5 mg/kg/día. El tiempo medio de respuesta es de 10 días. Se presenta un varón de 82 años con una dermatosis ampollar pruriginosa de 3 semanas de evolución posterior al inicio de teneligliptina, cuyo estudio histopatológico fue característico de penfigoide ampollar, y que evolucionó satisfactoriamente al suspender el hipoglucemiante oral, sin aparición de nuevas lesiones a más de un año de seguimiento clínico

Drug-induced bullous pemphigoid is a variety of bullous pemphigoid in which a drug is the cause of the disease. It manifests as serous tense blisters located mainly on the abdomen, upper limbs and root of the tights. The histopathology shows subepidermal bullae and mixed dermal infiltrate with eosinophils. Direct immunofluorescence of healthy perilesional skin shows linear IgG and/or C3 deposits. However, it can be negative in up to 15% of the cases. Diabetic patients receiving dipeptidylpeptidase 4 inhibitors have a 3 times increased risk of developing drug-induced bullous pemphigoid. The mean time between the beginning of the medication and the appearance of the dermatosis is 10 months. Immediate suspension of the offending drug and administration of prednisone 0,5 mg/kg/day is the standard treatment. Average response time is 10 days. We present an 82-year-old-man with a 3-week itchy bullous dermatosis that started 8 months after treatment with teneligliptin, whose histopathological study resembled bullous pemphigoid, and which evolved satisfactorily when the drug was discontinued. No new lesions have been detected after more than one year of clinical follow-up. Key words: bullous pemphigoid, drug-induced bullous pemphigoid, gliptins, teneligliptin, dipeptidylpeptidase 4 inhibitors

Pancreatitis autoinmune en pediatría. Caso clínico / Autoimmune pancreatitis in children. Clinical case

La pancreatitis recurrente ocurre en el 15-35% en la edad pediátrica. Se define como 2 o más episodios distintos de pancreatitis aguda con normalización de enzimas pancreáticas entre cada episodio. Una de sus causas es la pancreatitis autoinmune. En los últimos 10 años se controlaron, en el Hospital Garrahan, 10 pacientes con diagnóstico de pancreatitis recurrente, de los cuales solo uno tuvo diagnóstico de pancreatitis autoinmune. Se describe el caso clínico de una paciente, que, inicialmente, tenía estudios normales de función y anatomía pancreática y, en la evolución, luego de un episodio de pancreatitis aguda, desarrolló estenosis del conducto de Wirsung sugestiva de pancreatitis autoinmune. Se considera importante describir esta patología infrecuente en pediatría, pero que se encuentra en auge.

Introduction. Recurrent pancreatitis occurs in children between 15 and 35% of the cases. It is defined as two or more separate episodes of acute pancreatitis with normalization of the pancreatic enzymes between episodes. One of the causes is autoimmune pancreatitis. Over the last 10 years, 10 patients with recurrent pancreatitis were sent at our center. Only one was considered to have autoimmune pancreatitis. We described a clinical case about a patient, who had, at the beginning, normal functional and anatomical studies, and then was finally diagnosed with autoimmune disease based on findings on the magnetic resonance cholangiopancreatography with a duct of Wirsung abnormality. We considered important to describe this uncommon disorder in childhood, in spite of having an increasing incidence.

Síndrome DRESS por paracetamol / DRESS syndrome due to acetaminophen

A síndrome DRESS é uma entidade rara e distinta, caracterizada por acometimento cutâneo e envolvimento de órgãos internos, com risco potencial de morte. O diagnóstico e o tratamento pre- coces são de vital importância. Relatos de DRESS por paraceta- mol são raros na literatura, razão pela qual apresentamos este caso. Paciente do sexo masculino, 56 anos, com surgimento de rash maculopapular, febre, linfadenopatia e hipereosinofilia 3 semanas após suspensão de paracetamol, associados ao ante- cedente familiar de reação a fármaco. Evoluiu bem após pulso- terapia com metilprednisolona.

DRESS syndrome is a rare and distinct entity characterized by cutaneous manifestations and internal organs involvement with a potential risk of death. Early diagnosis and treatment are vi- tally important. Reported cases of DRESS syndrome due to ace- taminophen are rare in the literature, and that is the reason for this case report. A 56-year-old male patient with maculopapular rash, fever, lymphadenopathy, and hypereosinophilia three we- eks after suspension of acetaminophen, associated with a family history of drug reaction. It progressed well after pulse therapy with methylprednisolone.

Evolución del índice de actividad en pacientes con esclerosis sistémica tratados con ciclofosfamida y prednisona / Evolution of the index of activity in patients with systemic sclerosis treated with cyclophosphamide and prednisone

Introducción: La esclerosis sistémica es una enfermedad autoinmune del tejido conectivo donde ocurre inicialmente la vasculopatía y persiste durante toda la enfermedad. El índice de actividad revela un periodo crítico de la enfermedad. Objetivo: Evaluar la evolución clínica del índice de actividad de pacientes con esclerosis sistémica para determinar si el esquema terapéutico aplicado disminuye los síntomas de actividad sistémica. Métodos: Estudio cuasi experimental terapéutico de 31 pacientes atendidos en el Hospital Lucía Íñiguez Landín de Holguín que se dividieron en dos grupos según las etapas clínicas obtenidas del índice de desarrollo integral desde marzo del 2013 hasta marzo del 2016: el grupo A (etapas clínicas I y II) con 16 pacientes y el grupo B (etapas clínicas III y IV) con 15 pacientes. La evolución se evaluó según variables del instrumento al inicio, a los 6 y 12 meses de aplicado el esquema terapéutico. Se utilizó la prueba T o la prueba exacta de Fisher cuando los valores eran igual a 3 o menores. El cálculo de la media, análisis porcentual y la prueba de Wilcoxon se usaron para conocer la relación de variables en el tiempo. Resultados: El esquema terapéutico aplicado, previa validación, mejoró el índice de actividad de los pacientes de ambos grupos A y B (en etapas clínicas tempranas y tardías). Al evaluar el índice de actividad, en esta serie predominó la actividad moderada, tanto a los 6 como a los 12 meses durante el tratamiento médico. En ambos grupos la mejoría del índice de actividad fue significativa, tanto para la actividad moderada como para la intensa, más notable a partir de los 12 meses con p≤0,05 para el grupo A. Hubo baja susceptibilidad para la mejoría de los sistemas gastrointestinal y respiratorio, en el trascurso de la evaluación de este índice. Conclusiones: Se alcanzó mejoría en el índice de actividad de pacientes con esclerosis sistémica, con el esquema terapéutico aplicado, con estabilidad clínica y humoral desde las etapas iniciales de la enfermedad(AU)

Introduction: The systemic sclerosis is an autoimmune disease of the connective tissue where the vasculopathy happens initially and persist during all the disease. The immune component starts since the inflammatory process triggers off but he diminishes until you dwell on the evolutionary course and it is substituted for fibrosis, this ends pathogenic acquires great significance in the process. The index of activity reveals a critical period of the disease. Objective: Evaluating patients' clinical evolution of the index of activity with systemic sclerosis with the applied therapeutics. Methods: The study was quasi-experiences (or secondary prevention). In order to determine if the therapeutic applied scheme decreases symptomatology of its systemic activity. You started in March of the 2013 to March of the 2016, with duration of 24 months. They were 31 patients that split into two groups according to the clinical stages obtained of Comprehensive Development Index. In the group to (clinical stages I and II) 16 patients and in the group B (clinical stages III and IV) 15 patients. The evolution evaluated according to variables of the instrument of evaluation the start, to the six and 12 months itself of once the therapeutic scheme was applied. The T utilized the proof itself, or exact Fisher's proof when moral values were all the same or minor to three, the statistical significance determined in p≥ 0.05 itself. The calculation of the stocking, percentage analysis, and Wilcoxon's proof to know the relation of variables through the time. Results: The therapeutic applied scheme, previous validation, you improved the index of activity of the patients of both groups A and B that is in clinical premature and overdue stages. In the activity moderated for the group A statistical significance for system microvascular (0.023) and respiratory (0.025) to the six months, and to the 12 months' skin (0.023) and microvascular (0.006). For the intense activity significant improvement to the six months for muscleskelettic (0.005) and rheumatoid positive factor (0.008), to the 12 months' significant improvement for muscleskelettic (0.004); and examine of laboratory like erythrocyte sedimentation rate (0.008) circulating immune complexes (0.005), and rheumatoid factor (0.003). For the group B in the moderate activity significant improvement for respiratory system existed (0.014), and cardiovascular (0.020) that kept to the 12 months, added up its digestive system (0.008). Evident level improvement of skin (0.004), circulating immune complexes (0.008) and rheumatoid factor were caught up within the intense activity to the 12 months (0.014). Conclusions: Improvement in the index of activity of patients with systemic sclerosis, with the therapeutic scheme applied, with clinical stability and humoral from initial stages of the disease was caught up with(AU)

Linfoma de Burkitt primario de mama durante el embarazo / Primary Burkitt's Lymphoma of the Breast During Pregnancy

El linfoma de Burkitt es una neoplasia altamente agresiva y es un tipo raro de linfoma no Hodgkin localizado. Aunque los niños son los más frecuentemente afectados, en adultos ocurren principalmente durante el embarazo o el puerperio. La mama rara vez constituye la localización primaria del linfoma no Hodgkin. Se presenta un caso de linfoma de Burkitt primario de mama durante el embarazo. Paciente de 37 años con embarazo de 24 semanas quien presentó aumento de volumen difuso de mama derecha. La mama estaba aumentada de tamaño, dolorosa y homogénea con tumoración elástica y firme. La ecografía demostró inflamación difusa con tumoración heterogénea e hipoecoica con contornos ligeramente irregulares, marcadores tumorales estaban normales las pruebas serológicas fueron negativas. La biopsia de la lesión mostró tejido mamario reemplazado por células linfoideas de tamaño mediano con citoplasma basófilo y múltiples vacuolas. Estudios inmunohistoquímicos fueron positivos para el antígeno leucocitario común, CD10, CD20, CD43, Bcl-6. El análisis cromosómico reveló que más del 90 % de las células neoplásicas exhibieron translocación t llevando al diagnóstico final de linfoma de Burkitt de mama. Luego de evaluar las posibilidades terapéuticas y del consentimiento de la paciente se inició tratamiento citostático sistémico. Los linfomas primarios de mama son extremadamente raros. El linfoma de Burkitt primario de la mama es mucho menos común que los otros linfomas. Los métodos de clasificación, detección y tratamiento de esta afección siguen siendo objeto de debates e investigaciones(AU)

The Burkitt's lymphoma is a highly aggressive neoplasm and is a rare type of localized non-Hodgkin lymphoma. Although children are the most frequently affected, in adults they occur mainly during the pregnancy or the puerperium. The breast rarely constitutes the primary location for non-Hodgkin lymphoma. The study of a case of primary Burkitt lymphoma of the breast during pregnancy is presented. This is a 37 year old patient with a 24 week pregnancy who presented a diffuse increase in the volume of the right breast. The breast was enlarged, painful and homogeneous with a firm, elastic mass. The ultrasonography showed diffuse inflammation with a heterogeneous and hypoechoic tumor with slightly irregular contours. The tumor marker values were normal and the serological tests were negative. The biopsy of the lesion showed breast tissue replaced by medium-sized lymphoid cells with basophilic cytoplasm and multiple vacuoles. Immunohistochemically studies were positive for the common leukocyte antigen, CD10, CD20, CD43, Bcl-6. The chromosomal analysis revealed that more than 90 % of neoplastic cells exhibited t translocation leading to the final diagnosis of Burkitt lymphoma of the breast. After evaluating the therapeutic possibilities and the patient's consent, systemic cytostatic treatment was started. Primary breast lymphomas are extremely rare. The primary Burkitt lymphoma of the breast is much less common than other lymphomas. The methods of classification, detection, and the treatment of this condition continue to be the subject of debate and research(AU)

Mepolizumab in hypereosinophilic syndrome: a systematic review and meta-analysis

We aimed to evaluate the efficacy and safety of mepolizumab (MEP) in the management of hypereosinophilic syndrome (HES). A systematic search was performed, and articles published until March 2021 were analyzed. The primary efficacy results evaluated were hospitalization rate related to HES, morbidity (new or worsening), relapses/failure, treatment-related adverse effects, prednisone dosage ≤10 mg/day for ≥8 weeks, and eosinophil count <600/μL for ≥8 weeks. A meta-analysis was conducted, when appropriate. Three randomized controlled trials (RCTs), with a total of 255 patients, were included. The studies contemplated the use of MEP 300 mg/SC or 750 mg/IV. According to the evaluation of the proposed outcomes, when relapse rates/therapeutic failures were assessed, there was a 26% reduction with MEP 300 mg/SC (RD=-0.26; 95% CI: -0.44 to -0.08; p=0.04) and 48% reduction with MEP 750 mg/IV (RD=-0.48; 95% CI: -0.67, -0.30; p<0.00001). For the outcomes, prednisone dosage ≤10 mg/day for ≥8 weeks was 48% (RD=0.48; 95% CI: 0.35 to 0.62; p<0.00001), and the eosinophil count <600/μL for ≥8 weeks was 51% (RD=0.51; 95% CI: 0.38 to 0.63; p<0.00001), both showed a reduction with MEP 300 mg/IV and 750 mg/IV. No statistically significant differences in treatment-related adverse effects outcomes were observed for either dosage (RD=0.09; 95% CI: -0.05 to 0.24; p=0.20; RD=0.09; 95% CI: -0.11 to 0.29; p=0.39). Despite the positive effects observed for the studied outcomes, the exact significance remains unclear.

Síndrome Dress relacionada ao uso de Alopurinol: relato de caso / Dress Syndrome related to the use of allopurinol: case report

A síndrome DRESS é uma reação adversa a medicamentos pouco conhecida dentro da prática clínica, porém com grande potencial de letalidade devido a combinação de manifestações cutâneas e envolvimento de múltiplos órgãos. Objetivo: identificar possíveis reações adversas graves e incomuns secundárias ao uso de medicações usadas frequentemente na prática clínica. Métodos: Trata-se de um relato de caso construído com base em levantamento de dados do prontuário do paciente e análise a partir de um referencial teórico para comprovação de sua relevância na prática clínica. Resultado: Enfatizou-se a importância de um reconhecimento precoce dessa condição, a fim de evitar desfechos graves

The DRESS syndrome is an adverse drug reaction that is unsual in clinical practice, but with a high potential for lethality, due to the combination of cutaneous manifestations and involvement of multiple organs. Objective: identify possible serious and unusual adverse reactions secondary to the use of medications frequently used in clinical practice. Methods: This is a case report built on the basis of data collection from the patient's medical record and analysis from a theoretical framework to prove its source in clinical practice. Outcome: The importance of early recognition of this condition was emphasized, in order to avoid serious outcomes

Uso de corticosteroides no tratamento da lesão hepática aguda grave decorrente de anabolizante estanazolol / Use of corticosteroids in the treatment of stanazolol-induce severe acute liver injury

A busca pelo corpo perfeito pode gerar graves consequências para a população que faz uso indiscriminado de substâncias visando a resultados rápidos. O caso relatado se refere a um pa- ciente de 21 anos, do sexo masculino, na cidade de São Paulo (SP), que apresentou quadro de síndrome colestática 15 dias após uso do anabolizante estanazolol para fins estéticos na ativi- dade física, evoluindo com hepatite medicamentosa grave, com aumento de transaminases, hiperrubilinemia às custas de bilirrubina direta e fatores de coagulação, sem resposta satis- fatória ao tratamento de suporte convencional, com melhora significativa após introdução de corticoterapia.

Searching for the perfect body image can cause severe conse- quences to the population using substances indiscriminately to reach results fast. The case reported refers to a male patient, 21 years old, from the city of São Paulo (SP), who developed choles- tatic syndrome 15 days after the use of the steroid Stanazol for aesthetic purposes during physical activity, progressing with se- vere drug-induced hepatitis, transaminases, bilirubin, and coagu- lation factors increase with no satisfactory response to the con- ventional support treatment, and significant improvement after the introduction of corticotherapy.