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.

Dose-adjusted EPOCH-R vs. R-CHOP in frontline management of Waldeyer's ring diffuse large B-cell lymphoma: a retrospective study from a single institution / 中华医学杂志(英文版)

BACKGROUND@#To compare the efficacy and safety of dose-adjusted etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin plus rituximab (DA-EPOCH-R) with standard rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) in Waldeyer's ring diffuse large B-cell lymphoma (WR-DLBCL) at a single institution.@*METHODS@#This retrospective study included 115 newly diagnosed patients with WR-DLBCL, of whom 68 patients received R-CHOP, and 47 patients received DA-EPOCH-R as their first-line treatment. The baseline features of the two groups were well balanced using a 1:1 propensity score matching method, and a total of 84 cases were obtained, including respective 42 cases in the R-CHOP and DA-EPOCH-R groups, for further survival and prognosis analysis. The primary objectives included progression-free survival (PFS) and overall survival (OS).@*RESULTS@#During a median follow-up of 45 months, there were nine (21.4%) deaths in the R-CHOP group and two (4.8%) in the DA-EPOCH-R group. Kaplan-Meier analysis showed statistically significant improvements in PFS and OS in patients with DA-EPOCH-R compared with those treated with R-CHOP (log-rank test, P  = 0.025 and P  = 0.035, respectively). The 2-year PFS and OS rates in the DA-EPOCH-R group were 90.1% (95% confidence interval [CI]: 81.4-99.8%) and 95.2% (95% CI: 89.0-100.0%), respectively, and 80.5% (95% CI: 69.3-93.6%) and 90.5% (95% CI: 52.8-99.8%) in the R-CHOP group. Patients without B symptoms and elevated lactate dehydrogenase levels had a higher PFS in the DA-EPOCH-R group, with P values of 0.038 (hazard ratio [HR]: 0.11; 95% CI: 0.01-0.88) and 0.042 (HR: 0.19; 95% CI: 0.04-0.94), respectively. There were no statistically significant differences in clinical responses and treatment-related toxicities between the two groups.@*CONCLUSION@#Compared with patients received R-CHOP, those treated by DA-EPOCH-R had superior PFS, OS, and controlled toxicity in patients with WR-DLBCL.

Clinicopathologic characteristics and prognostic analysis of testicular diffuse large B-cell lymphoma / 中华血液学杂志

Objective: To analyze the clinicopathologic characteristics and prognosis of testicular diffuse large B-cell lymphoma (DLBCL) . Methods: A retrospective analysis was performed on 68 patients with testicular DLBCL admitted to Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine from October 2001 to April 2020. The gene mutation profile was evaluated by targeted sequencing (55 lymphoma-related genes) , and prognostic factors were analyzed. Results: A total of 68 patients were included, of whom 45 (66.2% ) had primary testicular DLBCL and 23 (33.8% ) had secondary testicular DLBCL. The proportion of secondary testicular DLBCL patients with Ann Arbor stage Ⅲ-Ⅳ (P<0.001) , elevated LDH (P<0.001) , ECOG score ≥ 2 points (P=0.005) , and IPI score 3-5 points (P<0.001) is higher than that of primary testicular DLBCL patients. Sixty-two (91% ) patients received rituximab in combination with cyclophosphamide, adriamycin, vincristine, and prednisone (R-CHOP) -based first-line regimen, whereas 54 cases (79% ) underwent orchiectomy prior to chemotherapy. Patients with secondary testicular DLBCL had a lower estimated 5-year progression-free survival (PFS) rate (16.5% vs 68.1% , P<0.001) and 5-year overall survival (OS) rate (63.4% vs 74.9% , P=0.008) than those with primary testicular DLBCL, and their complete remission rate (57% vs 91% , P=0.003) was also lower than that of primary testicular DLBCL. The ECOG scores of ≥2 (PFS: P=0.018; OS: P<0.001) , Ann Arbor stages Ⅲ-Ⅳ (PFS: P<0.001; OS: P=0.018) , increased LDH levels (PFS: P=0.015; OS: P=0.006) , and multiple extra-nodal involvements (PFS: P<0.001; OS: P=0.013) were poor prognostic factors in testicular DLBCL. Targeted sequencing data in 20 patients with testicular DLBCL showed that the mutation frequencies of ≥20% were PIM1 (12 cases, 60% ) , MYD88 (11 cases, 55% ) , CD79B (9 cases, 45% ) , CREBBP (5 cases, 25% ) , KMT2D (5 cases, 25% ) , ATM (4 cases, 20% ) , and BTG2 (4 cases, 20% ) . The frequency of mutations in KMT2D in patients with secondary testicular DLBCL was higher than that in patients with primary testicular DLBCL (66.7% vs 7.1% , P=0.014) and was associated with a lower 5-year PFS rate in patients with testicular DLBCL (P=0.019) . Conclusion: Patients with secondary testicular DLBCL had worse PFS and OS than those with primary testicular DLBCL. The ECOG scores of ≥2, Ann Arbor stages Ⅲ-Ⅳ, increased LDH levels, and multiple extra-nodal involvements were poor prognostic factors in testicular DLBCL. PIM1, MYD88, CD79B, CREBBP, KMT2D, ATM, and BTG2 were commonly mutated genes in testicular DLBCL, and the prognosis of patients with KMT2D mutations was poor.

Treatment conundrum: A case of recalcitrant Epidermolysis Bullosa Acquisita (EBA) in a 50-year-old Filipino male

Introduction@#Epidermolysis Bullosa Acquisita (EBA) is a rare autoimmune blistering disease which presents in the skin and mucous membranes. The decrease in anchoring fibrils in the basement membrane zone causes separation of the epidermis from the dermis, resulting in its blistering presentation. The treatment plan will depend on the severity of the disease. The first-line treatment for mild EBA includes topical corticosteroids and immunomodulators such as dapsone and colchicine; while severe cases of EBA may be given intravenous immunoglobulins, systemic steroids, and immunosuppressants such as azathioprine and cyclophosphamide. @*Case Report@#This is a case of a 50-year-old Filipino male who presented with a 2-year history of vesicles and tense bullae which evolved into papules, plaques and erosions with scarring and milia formation on the scalp and trauma-prone areas of the trunk and extremities. Clinical examination revealed multiple, well-defined, irregularly shaped erythematous papules and plaques with crusts, scales, erosions, pearl-like milia and scarring on the chest, back, upper, and lower extremities. The oral mucosa was moist with some ulcers on the tongue. Histopathologic examination using Hematoxylin and Eosin (H&E) stain revealed the absence of the epidermis with retention of dermal papillae suggestive of subepidermal clefting. Further examination with direct immunofluorescence (DIF) revealed monoclonal immunoglobulin (IgG) deposits demonstrating an intense linear fluorescent band at the dermoepidermal junction, consistent with Epidermolysis Bullosa Acquisita. Overall, the combined administration of prednisone, azathioprine, and colchicine resulted only in transient and incomplete resolution of lesions in this case of EBA.@*Conclusion@#The management of EBA is mostly supportive with the goal of minimizing complications. Combination treatments using steroids, colchicine, and azathioprine have been reported with various results. Its management remains challenging as most cases are refractory to treatment.

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)

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.

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.

Clinical analysis of 5 cases of systemic juvenile idiopathic arthritis with coronary artery dilatation / 中华儿科杂志

Objective: To investigate the clinical characteristics of systemic juvenile idiopathic arthritis combined with coronary artery dilatation. Methods: A retrospective analysis was performed on the clinical data, including clinical manifestations, blood routine, inflammatory factors, echocardiography, vascular ultrasound and CT angiography, treatment and outcomes, etc, of 5 cases with systemic juvenile idiopathic arthritis combined with coronary artery dilation admitted to Department of Rheumatology in the affiliated Children's Hospital of Capital Institute of Pediatrics from May 2019 to June 2021. Results: There were 2 males and 3 females among 5 cases. The onset age ranged from 7 months to 4 years 7 months.The diagnostic time ranged from 1.5 months to 3.0 months.Four cases were diagnosed as atypical Kawasaki disease. Three cases showed unilateral coronary artery dilation.Two cases showed bilateral coronary artery dilation.Four cases developed multiple organ injuries.Three cases developed macrophage activation syndrome.Three cases developed lung injury.Two cases developed pericardial effusion.One case developed pulmonary hypertension.As for treatment, 3 cases treated with methylprednisolone pulse therapy and methotrexate combined with cyclosporine, improved after the final application of biological agents, and have stopped prednisone. The other 2 cases were treated with adequate oral prednisone and gradually reduced, and methotrexate was added at the same time, 1 case relapsed in the process of reduction. No other vascular involvement was found in 5 cases. Coronary artery dilation recovered completely after 1 to 3 months of treatment. Conclusions: Systemic juvenile idiopathic arthritis combined with coronary artery dilatation has the clinical characteristics of small onset age, long diagnostic time, prone to multiple organ injuries. Corticosteroids and conventional immunosuppressive agents are not sensitive, and biological agents should be used as soon as possible.The prognosis of coronary artery dilation is good after timely treatment.

Pathological characteristics and clinical prognosis of nodular sclerosis grade 2 of classic Hodgkin's lymphoma / 中华肿瘤杂志

Objective: To investigate the pathological characteristics and clinical prognosis of nodular sclerosis grade 2 of classic Hodgkin's lymphoma (cHL-NS2) in our cancer center. Methods: A retrospective collection of 23 cases of cHL-NS2 admitted in Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from July 2008 to April 2019 was performed. Fifty-five cases of nodular sclerosis grade 1 of classical Hodgkin's lymphoma (cHL-NS1) during the same period were selected as control group. Survival curves were plotted using the Kaplan-Meier method, and Cox regression model was used to analyze the influencing factors for survival. Results: The median age of 23 cases of cHL-NS2 was 30 years old. Five cases had extra nodal invasion, and 19 cases were Ⅰ-Ⅱ stage based on Ann Arbor system. The pathological morphology of cHL-NS2 showed that the lymph node structure was completely destroyed and was divided into nodules by thick collagen. The tumor cells in the nodules were abundant and proliferated in sheets. The boundaries between the tumor cells were not clear. The incidence of tumor necrosis in cHL-NS2 was 43.5% (10/23), which was significantly higher than 18.2% (10/55) in cHL-NS1 (P=0.040). The 3-year progression-free survival (PFS) rate of patients in the cHL-NS2 group was 58.1%, which was significantly lower than 89.7% in the cHL-NS1 group (P=0.002). In all of 78 cases, the 3-year PFS rate of patients who did not obtain complete response (CR) was 67.1%, which was significantly lower than 92.2% in patients who achieved CR (P=0.030). Multivariate Cox regression analysis demonstrated that both cHL-NS2 and failure to obtain CR by first-line treatment were independent indicators for short PFS time (P<0.05). Conclusions: In cHL-NS2, the morphology of tumor cells are diverse, and tumor necrosis can be easily found. Under the current first-line treatments of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) or bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, and prednisone (BEACOPP), cHL-NS2 is an independent indicator for worse PFS.

Correlation between Serum miR-34a Level and Thrombocytopenia after Chemotherapy in Patients with Diffuse Large B-Cell Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To analyze the relationship between serum miR-34a level and thrombocytopenia after chemotherapy in patients with diffuse large B-cell lymphoma (DLBCL).@*METHODS@#A total of 69 eligible DLBCL patients who received chemotherapy in our hospital from January 2018 to January 2020 were prospectively included as the research subjects, all patients received R-CHOP 21 regimen (rituximab + cyclophosphamide + adriamycin + vincristine + prednisone) for chemotherapy, 3 weeks was 1 cycle, and 2 cycles of chemotherapy were used. The patients were divided into a reduction group and a non reduction group according to whether there was thrombocytopenia after chemotherapy, the general data and laboratory indexes of the two groups were investigated and compared, the relationship between serum miR-34a before chemotherapy and thrombocytopenia after chemotherapy in patients was analyzed.@*RESULTS@#Among the 69 DLBCL patients, 36 patients developed thrombocytopenia after 2 cycles of R-CHOP 21 regimen for chemotherapy, the incidence was 52.17%; the level of serum IL-11 and the relative expression of miR-34a mRNA in the reduction group were significantly lower than the non reduction group (P<0.05), compared other data between groups, there was no statistical significant difference (P>0.05); after Logistic regression analysis, the results showed that the level of serum IL-11 and the relative expression of miR-34a mRNA were related to thrombocytopenia after chemotherapy in DLBCL patients, low expression of each index may be a risk factor of thrombocytopenia after chemotherapy in DLBCL patients (OR>1, P<0.05); ROC curve was drawn, and the results showed that the AUC of serum IL-11 level and miR-34a mRNA relative expression before chemotherapy alone and in combination predicted the risk of thrombocytopenia after chemotherapy in DLBCL patients were all >0.80, and the predictive value was ideal, when the cut-off value of serum IL-11 level before chemotherapy was 42.094 pg/ml, and the cut-off value of miR-34a mRNA relative expression was 3.894, the combined prediction value was the best.@*CONCLUSION@#The relative expression of miR-34a mRNA is associated with thrombocytopenia after chemotherapy in DLBCL patients, which may be a risk factor for thrombocytopenia in patients after chemotherapy, has certain value in predicting the risk of thrombocytopenia of patients after chemotherapy.

Rituximab-Based Regimens for Treatment of Primary Gastric Diffuse Large B-Cell Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To analyze clinical response of the Rituximab-based chemotherapy and prognostic features in patients with primary gastric diffuse large B-cell lymphoma (PGDLBCL).@*METHODS@#From June 2008 to December 2020, the data of 53 PGDLBCL patients were analyzed retrospectively.@*RESULTS@#The median age was 46(25-77) years old in 53 patients including 35 males and 18 females. Stomachache is the most common symptom. The diagnosis were confirmed in 47 patients by endoscopic biopsy and 6 patients by surgery. Twenty-six patients had Ⅰ/Ⅱ1 stage (Lugano staging system) disease and 27 cases had II2/IV stage disease. All patients were treated with chemotherapy, including RCHOP (25/53) and R-DA-EPOCH (28/53). Complete remission rate was 79.2%（42/53）. The 3-year and 5-year overall survival (OS) rates were 77.4% and 69.8%. Univariate analysis showed that lactate dehydrogenase(LDH), Lugano stage and lesion size affected OS. Multivariate Cox regression analysis revealed that IPI score and Lugano stage were independent prognosis risk factors affecting OS. The patients in the R-DA-EPOCH group presented better survival outcomes than those in the RCHOP group with late stage (P5-year OS=0.035).@*CONCLUSION@#Rituximab in combination with chemotherapy is the backbone of therapy for PGDLBCL. IPI score and Lugano stage are independent prognosis risk factors affecting OS of PGDLBCL. R-DA-EPOCH can be superior to R-CHOP as a first-line regimen in PGDLBCL patients with late stage.

Clinical Characteristics and Long-term Prognosis Analysis of Patients with Primary Bone Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To analyze the clinical characteristics and long-term prognosis of patients with primary bone lymphoma (PBL).@*METHODS@#The clinical data of 21 patients with PBL treated in our center from 2005 to 2018 were analyzed retrospectively, the clinical characteristics and the factors affecting prognosis of the patients were analyzed.@*RESULTS@#The median age of all the 21 newly diagnosed PBL patients was 40(12-71) years old. Ostealgia was the initial symptom in most of the patients (19/21,90.5%). 42.9%(9/21) of the patients showed single bone lesion only. 571% (12/21) of the patients showed diffuse large B cell lymphoma. 28.6% (6/21) of the patients showed anaplastic large cell lymphoma and 9.5% (2/21) of the patients showed T cell lymphoblastic lymphoma. All the patients received chemotherapy (CHOP or CHOP like regimen, 33.3% plus rituximab) with or without radiotherapy and/or autologous hematopoietic stem cell transplantation (ASCT). 18 patients achieved clinical remission (including 15 for CR and 3 for PR). The median follow-up time was 48 months. The 5-year overall survival rate and progression-free survival rate of the patients were was 67.5% and 63.7%, respectively. The single factors analysis showed that ASCT was the important prognostic factor of PFS, while the single or multiple bone lesion was the factors affecting OS of the patients. There were no statistical differences with the effects of age, sex, stage, ECOG score, LDH level, B symptoms and radiotherapy for the prognosis of patients.@*CONCLUSION@#Diffuse large B cell lymphoma is the most common pathological type of PBL. Chemotherapy is the main treatment, which can be combined with radiotherapy and/or ASCT. The ASCT and the number of bone lesion are the factors for long time survival of the patients.

Clinical assessment of moderate-dose glucocorticoid in the treatment of recurrence of primary nephrotic syndrome in children: a prospective randomized controlled trial / 中国当代儿科杂志

OBJECTIVES@#To study the clinical effect and adverse drug reactions of different doses of glucocorticoid (GC) in the treatment of children with recurrence of steroid-sensitive nephrotic syndrome (SSNS).@*METHODS@#A total of 67 children who were hospitalized and diagnosed with SSNS recurrence in the Department of Nephrology, Children's Hospital, Capital Institute of Pediatrics, from November 2017 to December 2019 were enrolled. They were randomly divided into a moderate-dose GC group (32 children) and a full-dose GC group (35 children). The two groups were compared in terms of urinary protein clearance, recurrence rate within 6 months, and incidence rate of GC-associated adverse reactions.@*RESULTS@#There was no significant difference in the urinary protein clearance rate between the moderate-dose GC and full-dose GC groups (91% vs 94%, P>0.05). There was also no significant difference in the recurrence rate within 6 months between the two groups (41% vs 36%, P>0.05). At 6 months of follow-up, compared with the full-dose GC group, the moderate-dose GC group had a significantly lower cumulative dose of prednisone [(87±18) mg/kg vs (98±16) mg/kg, P=0.039] and a significantly lower proportion of children with an abnormal increase in body weight (6% vs 33%, P=0.045). The logistic regression analysis showed that prednisone dose ≥10 mg/alternate day at enrollment was a risk factor for recurrence within 6 months in children with SSNS (P=0.018).@*CONCLUSIONS@#For children with SSNS recurrence, moderate-dose GC has similar effects to full-dose GC in the remission induction rate and the recurrence rate within 6 months, with a lower cumulative dose and fewer GC-associated adverse reactions within 6 months than full-dose GC.

Predictors of efficacy of corticosteroid switching from abiraterone plus prednisone to dexamethasone in patients with metastatic castration-resistant prostate cancer / 亚洲男科学杂志(英文版)

Corticosteroid switching can reverse abiraterone resistance in some patients with metastatic castration-resistant prostate cancer (mCRPC). Here, we investigated the potential biomarkers for predicting the efficacy of corticosteroid switching during treatment with abiraterone acetate (AA). We retrospectively analyzed 101 mCRPC patients receiving corticosteroid switching from West China Hospital and Sun Yat-Sen University Cancer Center between January 2016 and December 2018. All cases received AA plus prednisone as first-line therapy during mCRPC. Primary end points were biochemical progression-free survival (bPFS) and overall survival (OS). The risk groups were defined based on multivariate analysis. A total of 42 (41.6%) and 25 (24.8%) patients achieved 30% and 50% decline in prostate-specific antigen (PSA), respectively, after corticosteroid switching. The median bPFS and median OS on AA plus dexamethasone were 4.9 (95% confidence interval [CI]: 3.7-6.0) months and 18.8 (95% CI: 16.2-30.2) months, respectively. Aldo-keto reductase family 1 member C3 (AKR1C3) expression (hazard ratio [HR]: 2.15, 95% Cl: 1.22-3.80, P = 0.008) and baseline serum alkaline phosphatase (ALP; HR: 4.95, 95% Cl: 2.40-10.19, P < 0.001) were independent predictors of efficacy before corticosteroid switching in the multivariate analysis of bPFS. Only baseline serum ALP >160 IU l-1 (HR: 3.41, 95% Cl: 1.57-7.38, P = 0.002) together with PSA level at switch ≥50 ng ml-1 (HR: 2.59, 95% Cl: 1.22-5.47, P = 0.013) independently predicted poorer OS. Based on the predictive factors in multivariate analysis, we developed two risk stratification tools to select candidates for corticosteroid switching. Detection of serum ALP level, PSA level, and tissue AKR1C3 expression in mCRPC patients could help make clinical decisions for corticosteroid switching.

Clinical characteristics and prognostic features of 63 HIV-associated diffuse large B-cell lymphoma: a single-center real-world study in China / 中华血液学杂志

Objective: This study aimed to look into the clinical characteristics and prognosis of patients with human immunodeficiency virus (HIV) -associated diffuse large B-cell lymphoma (DLBCL) . Methods: Retrospective review of the clinical data of 63 HIV-infected patients with DLBCL diagnosed at Chongqing University Cancer Hospital between July 2008 and August 2021. The Kaplan-Meier method was used to calculate survival curves, and the log-rank test method was used to compare survival between groups. The Cox proportional hazards model was used for multivariate analysis. Results: In 63 patients with HIV-associated DLBCL, 57 (90.5% ) were men, and the median age was 49 (23-87) years. The most common pathological subtype was the germinal center B-cell-like lymphoma (74.6% ) ; 46.0% (29/63) were combined with extranodal lesions. Seventeen of 63 (27.0% ) patients had large masses (≥7.5 cm) . Twenty of 63 (31.7% ) patients had B symptoms. The median CD4(+) T cell count was 203 (4-1022) ×10(6)/L. A total of 49% (25/51) patients had CD4(+) cell count <200×10(6)/L, 56.9% (33/58) had high (3-5) International Prognostic Index (IPI) scores, and 43.1% (25/58) had low (0-2) IPI scores. Further, 78% (46/59) were diagnosed with Ann Arbor Stage Ⅲ/Ⅳ, and 25.4% (16/63) didn't receive chemotherapy. A total of 22.2% (14/63) of patients received less than four cycles of chemotherapy, and 52.4% (33/63) received four or more cycles of chemotherapy. Among patients undergoing chemotherapy, 61.7% (29/47) received R-CHOP-like regimens, and 38.3% (18/47) used CHOP-like regimens. The 1-, 2-, 3-, and 5-year overall survival (OS) rates were 65.0% , 53.8% , 47.1% , and 43.5% , respectively. Univariate analysis revealed that age ≥ 60 years (P=0.012) , Eastern Cooperative Oncology Gruop Performance Status (ECOG-PS) score 2-4 points (P=0.043) , IPI score 3-5 points (P=0.001) , β(2)-MG elevation (≥5.5 mg/L) (P=0.007) , and systemic chemotherapy cycles less than four times (P<0.001) were the negative prognostic factors affecting the OS of patients. The Cox multivariate analysis depicted that age ≥60 years (HR=2.272, 95% CI 1.110-4.651, P=0.025) , IPI score 3-5 points (HR=3.562, 95% CI 1.794-7.074, P<0.001) , ECOG-PS score 2-4 points (HR=2.675, 95% CI 1.162-6.153, P=0.021) , and number of cycles of chemotherapy<4 (HR=0.290, 95% CI 0.176-0.479, P<0.001) were independent risk factors for adverse prognosis of OS. Conclusion: HIV-associated DLBCL is the most common HIV-related tumor, is most commonly seen in men, and has a high 1-year mortality rate. Chemotherapy combined with antiretroviral therapy can improve patient prognosis.

Pituitary immune-related adverse events induced by programmed cell death protein 1 inhibitors in advanced lung cancer patients: A report of 3 cases / 北京大学学报(医学版)

Pituitary immune-related adverse events induced by programmed cell death protein 1 inhibitors in advanced lung cancer patients: A report of 3 cases SUMMARY Programmed cell death protein 1 (PD-1) and its ligand 1 (PD-L1) have been widely used in lung cancer treatment, but their immune-related adverse events (irAEs) require intensive attention. Pituitary irAEs, including hypophysitis and hypopituitarism, are commonly induced by cytotoxic T lymphocyte antigen 4 inhibitors, but rarely by PD-1/PD-L1 inhibitors. Isolated adrenocorticotropic hormone(ACTH) deficiency (IAD) is a special subtype of pituitary irAEs, without any other pituitary hormone dysfunction, and with no enlargement of pituitary gland, either. Here, we described three patients with advanced lung cancer who developed IAD and other irAEs, after PD-1 inhibitor treatment. Case 1 was a 68-year-old male diagnosed with metastatic lung adenocarcinoma with high expression of PD-L1. He was treated with pembrolizumab monotherapy, and developed immune-related hepatitis, which was cured by high-dose methylprednisolone [0.5-1.0 mg/(kg·d)]. Eleven months later, the patient was diagnosed with primary gastric adenocarcinoma, and was treated with apatinib, in addition to pembrolizumab. After 17 doses of pembrolizumab, he developed severe nausea and asthenia, when methylprednisolone had been stopped for 10 months. His blood tests showed severe hyponatremia (121 mmol/L, reference 137-147 mmol/L, the same below), low levels of 8:00 a.m. cortisol (< 1 μg/dL, reference 5-25 μg/dL, the same below) and ACTH (2.2 ng/L, reference 7.2-63.3 ng/L, the same below), and normal thyroid function, sex hormone and prolactin. Meanwhile, both his lung cancer and gastric cancer remained under good control. Case 2 was a 66-year-old male with metastatic lung adenocarcinoma, who was treated with a new PD-1 inhibitor, HX008, combined with chemotherapy (clinical trial number: CTR20202387). After 5 months of treatment (7 doses in total), his cancer exhibited partial response, but his nausea and vomiting suddenly exacerbated, with mild dyspnea and weakness in his lower limbs. His blood tests showed mild hyponatremia (135 mmol/L), low levels of 8:00 a.m. cortisol (4.3 μg/dL) and ACTH (1.5 ng/L), and normal thyroid function. His thoracic computed tomography revealed moderate immune-related pneumonitis simultaneously. Case 3 was a 63-year-old male with locally advanced squamous cell carcinoma. He was treated with first-line sintilimab combined with chemotherapy, which resulted in partial response, with mild immune-related rash. His cancer progressed after 5 cycles of treatment, and sintilimab was discontinued. Six months later, he developed asymptomatic hypoadrenocorticism, with low level of cortisol (1.5 μg/dL) at 8:00 a.m. and unresponsive ACTH (8.0 ng/L). After being rechallenged with another PD-1 inhibitor, teslelizumab, combined with chemotherapy, he had pulmonary infection, persistent low-grade fever, moderate asthenia, and severe hyponatremia (116 mmol/L). Meanwhile, his blood levels of 8:00 a.m. cortisol and ACTH were 3.1 μg/dL and 7.2 ng/L, respectively, with normal thyroid function, sex hormone and prolactin. All of the three patients had no headache or visual disturbance. Their pituitary magnetic resonance image showed no pituitary enlargement or stalk thickening, and no dynamic changes. They were all on hormone replacement therapy (HRT) with prednisone (2.5-5.0 mg/d), and resumed the PD-1 inhibitor treatment when symptoms relieved. In particular, Case 2 started with high-dose prednisone [1 mg/(kg·d)] because of simultaneous immune-related pneumonitis, and then tapered it to the HRT dose. His cortisol and ACTH levels returned to and stayed normal. However, the other two patients' hypopituitarism did not recover. In summary, these cases demonstrated that the pituitary irAEs induced by PD-1 inhibitors could present as IAD, with a large time span of onset, non-specific clinical presentation, and different recovery patterns. Clinicians should monitor patients' pituitary hormone regularly, during and at least 6 months after PD-1 inhibitor treatment, especially in patients with good oncological response to the treatment.

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)