Relative incidence of interstitial lung diseases in Brazil / Incidência relativa de doenças pulmonares intersticiais no Brasil

ABSTRACT Objective: To assess the relative frequency of incident cases of interstitial lung diseases (ILDs) in Brazil. Methods: This was a retrospective survey of new cases of ILD in six referral centers between January of 2013 and January of 2020. The diagnosis of ILD followed the criteria suggested by international bodies or was made through multidisciplinary discussion (MDD). The condition was characterized as unclassifiable ILD when there was no specific final diagnosis following MDD or when there was disagreement between clinical, radiological, or histological data. Results: The sample comprised 1,406 patients (mean age = 61 ± 14 years), and 764 (54%) were female. Of the 747 cases exposed to hypersensitivity pneumonitis (HP)-related antigens, 327 (44%) had a final diagnosis of HP. A family history of ILD was reported in 8% of cases. HRCT findings were indicative of fibrosis in 74% of cases, including honeycombing, in 21%. Relevant autoantibodies were detected in 33% of cases. Transbronchial biopsy was performed in 23% of patients, and surgical lung biopsy, in 17%. The final diagnoses were: connective tissue disease-associated ILD (in 27%), HP (in 23%), idiopathic pulmonary fibrosis (in 14%), unclassifiable ILD (in 10%), and sarcoidosis (in 6%). Diagnoses varied significantly among centers (c2 = 312.4; p < 0.001). Conclusions: Our findings show that connective tissue disease-associated ILD is the most common ILD in Brazil, followed by HP. These results highlight the need for close collaboration between pulmonologists and rheumatologists, the importance of detailed questioning of patients in regard with potential exposure to antigens, and the need for public health campaigns to stress the importance of avoiding such exposure.

RESUMO Objetivo: Avaliar a frequência relativa de casos incidentes de doenças pulmonares intersticiais (DPI) no Brasil. Métodos: Levantamento retrospectivo de casos novos de DPI em seis centros de referência entre janeiro de 2013 e janeiro de 2020. O diagnóstico de DPI seguiu os critérios sugeridos por órgãos internacionais ou foi feito por meio de discussão multidisciplinar (DMD). A condição foi caracterizada como DPI não classificável quando não houve um diagnóstico final específico após a DMD ou houve discordância entre dados clínicos, radiológicos ou histológicos. Resultados: A amostra foi composta por 1.406 pacientes (média de idade = 61 ± 14 anos), sendo 764 (54%) do sexo feminino. Dos 747 casos expostos a antígenos para pneumonite de hipersensibilidade (PH), 327 (44%) tiveram diagnóstico final de PH. Houve relato de história familiar de DPI em 8% dos casos. Os achados de TCAR foram indicativos de fibrose em 74% dos casos, incluindo faveolamento, em 21%. Autoanticorpos relevantes foram detectados em 33% dos casos. Biópsia transbrônquica foi realizada em 23% dos pacientes, e biópsia pulmonar cirúrgica, em 17%. Os diagnósticos finais foram: DPI associada à doença do tecido conjuntivo (em 27%), PH (em 23%), fibrose pulmonar idiopática (em 14%), DPI não classificável (em 10%) e sarcoidose (em 6%). Os diagnósticos variaram significativamente entre os centros (c2 = 312,4; p < 0,001). Conclusões: Nossos achados mostram que DPI associada à doença do tecido conjuntivo é a DPI mais comum no Brasil, seguida pela PH. Esses resultados destacam a necessidade de uma estreita colaboração entre pneumologistas e reumatologistas, a importância de fazer perguntas detalhadas aos pacientes a respeito da potencial exposição a antígenos e a necessidade de campanhas de saúde pública destinadas a enfatizar a importância de evitar essa exposição.

Eficacia y tolerabilidad Resultados del tratamiento para la fibrosis pulmonar idiopática. Experiencia de la vida real / Efficacy and Tolerability Outcomes of Treatment for Idiopathic Pulmonary Fibrosis. Real-life Experience

Introducción: la fibrosis pulmonar idiopática (FPI) es una enfermedad progresiva y cró-nica con muy mal pronóstico. Actualmente, existen dos fármacos para esta patología. El propósito de nuestro estudio es evaluar los efectos del tratamiento en los pacientes de una consulta en vida real.

Introduction: idiopathic pulmonary fibrosis (IPF) is a chronic progressive disease with a very poor prognosis. Two drugs are currently available for this disease. The purpo-se of our study is to evaluate the effects of treatment in patients in a real-life practice.

Calcinosis escrotal: ¿una entidad idiopática? / Scrotal Calcinosis: an Idiopathic Entity?

La calcinosis escrotal es una enfermedad benigna e infrecuente que se presenta en adultos de mediana edad, con múltiples nódulos asintomáticos a nivel de la piel del escroto. Algunos autores vinculan la aparición de estas lesiones a la calcificación secundaria de quistes epidérmicos o ecrinos. Cuando no se encuentra relacionada con dichas entidades ni con alteraciones del metabolismo fosfocálcico, el cuadro se considera idiopático. El tratamiento de elección es quirúrgico, en caso de impacto en la calidad de vida o relevancia estética para el paciente. (AU)

Scrotal calcinosis is a rare, benign disease that presents in middle-aged adults with multiple asymptomatic nodules on the skin of the scrotum. Some authors link the appearance of these lesions to the secondary calcification of epidermal or eccrine cysts. When it is not related to these entities or to alterations in phosphocalcic metabolism, the condition is considered idiopathic. The treatment of choice is surgical, in case of impact on the quality of life or aesthetic relevance for the patient. (AU)

Dilatación idiopática de la aurícula derecha. Reporte de caso y revisión de la literatura / Idiopathic dilatation of the right atrium. Case report and literature review

Resumen La dilatación idiopática de la aurícula derecha (DIAD) es una malformación poco frecuente caracterizada por un crecimiento desproporcionado de la aurícula derecha en ausencia de una causa estructural o funcional que la justifique. Presentamos el caso de una paciente con DIAD con diagnóstico desde la etapa prenatal.

Abstract Idiopathic dilatation of the right atrium is a rare malformation characterized by disproportionate growth of the right atrium in the absence of a cause that justifies it. We present the case of a patient with idiopathic dilatation of the right atrium diagnosed since fetal life.

Rituximab therapy for childhood onset idiopathic nephrotic syndrome: experience of a Portuguese tertiary center / Terapia com Rituximabe para síndrome nefrótica idiopática de início na infância: experiência de um centro terciário português

ABSTRACT Introduction: Rituximab (RTX) is a therapeutic option in pediatric difficult-to-treat idiopathic nephrotic syndrome (NS). We aimed to assess the efficacy and safety of RTX use in these patients. Method: A retrospective study of all patients with idiopathic NS treated with RTX was conducted in a pediatric nephrology division of a tertiary hospital. Demographic, anthropometric, clinical and analytical data were collected prior to treatment and at 6, 12, and 24 months. Results: Sixteen patients were included (11 males), with a median (25th-75th percentile, P25-P75) age at diagnosis of 2 (2.0-2.8) years. Fifteen were steroid-sensitive and 1 was steroid-resistant and sensitive to cyclosporine. The median age at administration of RTX was 10 (6.3-14.0) years. Throughout a median follow-up time of 2.5 (1.0-3.0) years, 6 (37.5%) patients achieved partial remission and 7 (43.8%) had no relapses and were not taking any immunosuppressants at the 24-month follow-up visit. Regarding complications, 1 patient presented persistent hypogammaglobulinemia. Compared with the 12-month period before RTX, there was a decrease in the median number of relapses at 6 and 12 months [3 (3.0-4.0) vs 0 (0-0.8) and 0.50 (0-1.0), respectively; p = 0.001] and in the daily steroids dose (mg/kg/day) at 6, 12, and 24 months [0.29 (0.15-0.67)vs [0.10 (0.07-0.13); p = 0.001], [0.12 (0.05-0.22); p = 0.005] and [0.07(0.04-0.18); p = 0.021]], respectively. There was also a reduction in the median BMI z score at 24 months [2.11 (0.45-3.70) vs. 2.93 (2.01-3.98); p = 0.049]. Conclusion: Our results confirm the efficacy and safety of RTX use in pediatric idiopathic NS and highlight its' potential cardiometabolic benefits.

Resumo Introdução: Rituximabe (RTX) é uma opção terapêutica na síndrome nefrótica (SN) idiopática pediátrica de difícil tratamento. Visamos avaliar eficácia e segurança do uso de RTX nestes pacientes. Método: Realizou-se estudo retrospectivo de todos os pacientes com SN idiopática tratados com RTX, em uma unidade de nefrologia pediátrica de um hospital terciário. Dados demográficos, antropométricos, clínicos e analíticos foram coletados antes do tratamento e aos 6, 12 e 24 meses. Resultados: Incluímos 16 pacientes (11 do sexo masculino), com idade mediana (percentil 25-75, P25-P75) de 2 (2,0-2,8) anos ao diagnóstico. Quinze eram sensíveis a esteroides, e 1 resistente a esteroides e sensível à ciclosporina.A idade mediana na administração do RTX foi 10 (6,3-14,0) anos. Durante um tempo mediano de acompanhamento de 2,5(1,0-3,0) anos, 6 (37,5%) pacientes alcançaram remissão parcial e 7 (43,8%) não tiveram recidivas e não estavam tomando imunossupressor no acompanhamento aos 24 meses. Quanto às complicações,1 paciente apresentou hipogamaglobulinemia persistente. Comparado ao período de12 meses anterior ao RTX, houve diminuição no número mediano de recidivas em 6 e 12 meses [3 (3,0-4,0) vs 0 (0-0,8) e 0,50 (0-1,0), respectivamente; p = 0,001] e na dose diária de esteroides (mg/kg/dia) aos 6, 12 e 24 meses [0,29 (0,15-0,67) >vs [0,10 (0,07-0,13); p = 0,001], [0,12 (0,05-0,22); p = 0,005] e [0,07 (0,04-0,18); p = 0,021], respectivamente. Houve também redução na mediana do escore z do IMC aos 24 meses [2,11 (0,45-3,70) vs 2,93 (2,01-3,98);p = 0,049]. Conclusões: Nossos resultados confirmam a eficácia e segurança do uso de RTX em SN idiopática pediátrica, destacando seus potenciais benefícios cardiometabólicos.

Artritis idiopática juvenil, forma sistémica. A propósito de un caso

La artritis idiopática juvenil es la enfermedad reumática crónica más frecuente en niños, y una de las enfermedades crónicas más comunes en la infancia. En Angola no se han realizado revisiones de casos de dicha enfermedad de inicio sistémico, y solo se han reportado escasas publicaciones en el continente africano, en países como Egipto y Sudáfrica. El objetivo de este trabajo es describir un caso de artritis idiopática juvenil sistémica en una paciente de dos años que presentó síntomas como poliartritis, eritema evanescente, adenopatías, fiebre prolongada y visceromegalias. Este es el primer caso de artritis idiopática juvenil reportado en dicho país.

Juvenile idiopathic arthritis is the most frequent rheumatic disease and one of the most common chronic diseases in childhood. In Angola, there are no reviews reported of this systemic onset disease, and only few publications have been reported on the African continent, in countries such as Egypt and South Africa. The objective of this work is to inform on a case of systemic juvenile idiopathic arthritis in a two-years-old patient who presented symptoms such as polyarthritis, evanescent erythema, lymphadenopathies, prolonged fever and visceromegaly. This is the first case of juvenile idiopathic arthritis reported in that country.

Hipertensión intracraneal idiopática asociada a infección por COVID 19

Se presenta el caso de una paciente adulta joven con antecedente de ovario poliquístico e infección reciente por COVID 19 que inicia con cuadro de astenopia y visión borrosa junto con cefalea, se realiza fondo de ojo con papiledema bilateral, estudios de laboratorio y neuro imagen sin hallazgos positivos, también punción lumbar con presión de apertura elevada por lo que se diagnostica hipertensión intracraneal idiopática con posterior mejoría post punción.

The case of a young adult patient is presented with a history of polycystic ovary and recent infection by COVID 19 that starts with asthenopia and blurred vision along with headache, fundus examination with bilateral papilledema was performed, laboratory and neuroimaging studies without positive findings, also lumbar puncture with elevated opening pressure so idiopathic intracranial hypertension was diagnosed with subsequent post puncture improvement.

Idiopathic pulmonary fibrosis: current diagnosis and treatment / Fibrose pulmonar idiopática: diagnóstico e tratamento atuais

ABSTRACT Idiopathic pulmonary fibrosis (IPF) is a devastating chronic lung disease without a clear recognizable cause. IPF has been at the forefront of new diagnostic algorithms and treatment developments that led to a shift in patients' care in the past decade, indeed influencing the management of fibrotic interstitial lung diseases other than IPF itself. Clinical presentation, pathophysiology, and diagnostic criteria are briefly addressed in this review article. Additionally, evidence regarding the use of antifibrotics beyond the settings of clinical trials, impact of comorbidities, and therapeutic approaches other than pharmacological treatments are discussed in further detail.

RESUMO A fibrose pulmonar idiopática (FPI) é uma doença pulmonar crônica devastadora sem uma causa claramente reconhecida, que está na vanguarda de novos algoritmos de diagnóstico e do desenvolvimento de tratamentos que levaram a uma mudança no cuidado desses pacientes na última década, influenciando de fato o manejo de doenças pulmonares intersticiais fibróticas além da própria FPI. A apresentação clínica, a fisiopatologia e os critérios diagnósticos são brevemente abordados neste artigo de revisão. Além disso, as evidências sobre o uso de antifibróticos além dos cenários de ensaios clínicos, o impacto de comorbidades e abordagens terapêuticas, além dos tratamentos farmacológicos são discutidos detalhadamente.

Antifibrotic therapy in idiopathic pulmonary fibrosis candidates for lung transplantation undergoing pulmonary rehabilitation / Antifibróticos em pacientes com fibrose pulmonar idiopática candidatos a transplante de pulmão e submetidos a reabilitação pulmonar

ABSTRACT Objective: To investigate the impact of pulmonary rehabilitation (PR) on functional outcomes and health-related quality of life (HRQoL) in idiopathic pulmonary fibrosis (IPF) patients placed on a lung transplant waitlist and receiving antifibrotic therapy (AFT). Methods: This was a retrospective observational study of consecutive IPF patients receiving AFT with either pirfenidone or nintedanib (the AFT group) and undergoing PR between January of 2018 and March of 2020. The AFT group and the control group (i.e., IPF patients not receiving AFT) participated in a 12-week PR program consisting of 36 sessions. After having completed the program, the study participants were evaluated for the six-minute walk distance (6MWD) and HRQoL. Pre- and post-PR 6MWD and HRQoL were compared within groups and between groups. Results: There was no significant difference between the AFT and control groups regarding baseline characteristics, including age, airflow limitation, comorbidities, and oxygen requirement. The AFT group had a significant increase in the 6MWD after 12 weeks of PR (effect size, 0.77; p < 0.05), this increase being significant in the between-group comparison as well (effect size, 0.55; p < 0.05). The AFT group showed a significant improvement in the physical component of HRQoL at 12 weeks (effect size, 0.30; p < 0.05). Conclusions: Among IPF patients undergoing PR, those receiving AFT appear to have greater improvements in the 6MWD and the physical component of HRQoL than do those not receiving AFT.

RESUMO Objetivo: Investigar o impacto da reabilitação pulmonar (RP) em desfechos funcionais e na qualidade de vida relacionada à saúde (QVRS) em pacientes com fibrose pulmonar idiopática (FPI) em lista de espera para transplante de pulmão e em tratamento com antifibróticos (AF). Métodos: Estudo observacional retrospectivo com pacientes consecutivos com FPI em tratamento com pirfenidona ou nintedanibe (grupo AF) submetidos a RP entre janeiro de 2018 e março de 2020. O grupo AF e o grupo controle (pacientes com FPI que não estavam em tratamento com AF) participaram de um programa de RP com 36 sessões ao longo de 12 semanas. Após o término do programa, os participantes foram avaliados quanto à distância percorrida no teste de caminhada de seis minutos (DTC6) e à QVRS. A DTC6 e a QVRS pré e pós-RP foram comparadas intra e intergrupos. Resultados: Não houve diferença significativa entre os grupos AF e controle quanto às características basais, incluindo idade, limitação do fluxo aéreo, comorbidades e necessidade de oxigênio. O grupo AF apresentou um aumento significativo da DTC6 após 12 semanas de RP (tamanho do efeito: 0,77; p < 0,05); esse aumento também foi significativo na comparação intergrupos (tamanho do efeito: 0,55; p < 0,05). O grupo AF apresentou melhora significativa no componente físico da QVRS após 12 semanas (tamanho do efeito: 0,30; p < 0,05). Conclusões: Em pacientes com FPI submetidos a RP, a melhora na DTC6 e no componente físico da QVRS parece ser maior naqueles que estejam recebendo tratamento com AF do que naqueles que não o estejam.

Ambulatory oxygen therapy in lung transplantation candidates with idiopathic pulmonary fibrosis referred for pulmonary rehabilitation / Oxigenoterapia ambulatorial em candidatos a transplante de pulmão com fibrose pulmonar idiopática encaminhados para reabilitação pulmonar

ABSTRACT Objective: To determine independent factors related to the use of oxygen and the oxygen flow rate in idiopathic pulmonary fibrosis (IPF) patients placed on a lung transplant waitlist and undergoing pulmonary rehabilitation (PR). Methods: This was a retrospective quasi-experimental study presenting functional capacity and health-related quality of life (HRQoL) data from lung transplant candidates with IPF referred for PR and receiving ambulatory oxygen therapy. The patients were divided into three groups on the basis of the oxygen flow rate: 0 L/min (the control group), 1-3 L/min, and 4-5 L/min. Data on functional capacity were collected by means of the six-minute walk test, and data on HRQoL were collected by means of the Medical Outcomes Study 36-item Short-Form Health Survey (SF-36), being collected before and after 36 sessions of PR including aerobic and strength exercises. Results: The six-minute walk distance improved in all three groups (0 L/min: Δ 61 m, p < 0.001; 1-3 L/min: Δ 58 m, p = 0.014; and 4-5 L/min: Δ 35 m, p = 0.031). Regarding HRQoL, SF-36 physical functioning domain scores improved in all three groups, and the groups of patients receiving ambulatory oxygen therapy had improvements in other SF-36 domains, including role-physical (1-3 L/min: p = 0.016; 4-5 L/min: p = 0.040), general health (4-5 L/min: p = 0.013), social functioning (1-3 L/min: p = 0.044), and mental health (1-3 L/min: p = 0.046). Conclusions: The use of ambulatory oxygen therapy during PR in lung transplant candidates with IPF and significant hypoxemia on exertion appears to improve functional capacity and HRQoL.

RESUMO Objetivo: Determinar fatores independentes relacionados ao uso de oxigênio e ao fluxo de oxigênio em pacientes com fibrose pulmonar idiopática (FPI) em lista de espera para transplante de pulmão e em reabilitação pulmonar (RP). Métodos: Estudo quase experimental retrospectivo no qual são apresentados dados referentes à capacidade funcional e qualidade de vida relacionada à saúde (QVRS) de pacientes com FPI candidatos a transplante de pulmão e encaminhados para RP em oxigenoterapia ambulatorial. Os pacientes foram divididos em três grupos com base no fluxo de oxigênio: 0 L/min (grupo controle), 1-3 L/min e 4-5 L/min. Os dados referentes à capacidade funcional foram coletados por meio do teste de caminhada de seis minutos, e os dados referentes à QVRS foram coletados por meio do Medical Outcomes Study 36-item Short-Form Health Survey (SF-36), sendo coletados antes e depois de 36 sessões de RP com exercícios aeróbicos e de força. Resultados: A distância percorrida no teste de caminhada de seis minutos melhorou nos três grupos (0 L/min: Δ 61 m, p < 0,001; 1-3 L/min: Δ 58 m, p = 0,014; 4-5 L/min: Δ 35 m, p = 0,031). No tocante à QVRS, a pontuação obtida no domínio "capacidade funcional" do SF-36 melhorou nos três grupos, e os pacientes que receberam oxigenoterapia ambulatorial apresentaram melhora em outros domínios do SF-36: função física (1-3 L/min: p = 0,016; 4-5 L/min: p = 0,040), estado geral de saúde (4-5 L/min: p = 0,013), aspectos sociais (1-3 L/min: p = 0,044) e saúde mental (1-3 L /min: p = 0,046). Conclusões: O uso de oxigenoterapia ambulatorial durante a RP em candidatos a transplante de pulmão com FPI e hipoxemia significativa aos esforços parece melhorar a capacidade funcional e a QVRS.

Progressive fibrotic interstitial lung disease / Doença pulmonar intersticial fibrosante progressiva

ABSTRACT Many interstitial lung diseases (ILDs) share mechanisms that result in a progressive fibrosing phenotype. In Brazil, the most common progressive fibrosing interstitial lung diseases (PF-ILDs) are chronic hypersensitivity pneumonitis, idiopathic pulmonary fibrosis, unclassified ILD, and connective tissue diseases. PF-ILD is seen in approximately 30% of patients with ILD. Because PF-ILD is characterized by disease progression after initiation of appropriate treatment, a diagnosis of the disease resulting in fibrosis is critical. Different criteria have been proposed to define progressive disease, including worsening respiratory symptoms, lung function decline, and radiological evidence of disease progression. Although the time elapsed between diagnosis and progression varies, progression can occur at any time after diagnosis. Several factors indicate an increased risk of progression and death. In the last few years, antifibrotic drugs used in patients with idiopathic pulmonary fibrosis have been tested in patients with PF-ILD. The effects of nintedanib and placebo have been compared in patients with PF-ILD, a mean difference of 107.0 mL/year being observed, favoring nintedanib. The U.S. Food and Drug Administration and the Brazilian Health Regulatory Agency have approved the use of nintedanib in such patients on the basis of this finding. Pirfenidone has been evaluated in patients with unclassified ILD and in patients with other ILDs, the results being similar to those for nintedanib. More studies are needed in order to identify markers of increased risk of progression in patients with ILD and determine the likelihood of response to treatment with standard or new drugs.

RESUMO Muitas doenças pulmonares intersticiais (DPI) compartilham mecanismos que resultam em um fenótipo fibrosante progressivo. No Brasil, as doenças pulmonares intersticiais fibrosantes progressivas (DPI-FP) mais comuns são a pneumonite de hipersensibilidade crônica, a fibrose pulmonar idiopática, a DPI não classificada e as doenças do tecido conjuntivo. A DPI-FP é observada em aproximadamente 30% dos pacientes com DPI. Como a DPI-FP é caracterizada pela progressão da doença após o início do tratamento adequado, é fundamental diagnosticar a doença que resulta em fibrose. Diferentes critérios foram propostos para definir doença progressiva, incluindo piora dos sintomas respiratórios, declínio da função pulmonar e evidências radiológicas de progressão da doença. Embora o tempo decorrido entre o diagnóstico e a progressão varie, a progressão pode ocorrer a qualquer momento após o diagnóstico. Vários fatores indicam risco aumentado de progressão e morte. Nos últimos anos, antifibróticos usados em pacientes com fibrose pulmonar idiopática foram testados em pacientes com DPI-FP. Os efeitos do nintedanibe e placebo foram comparados em pacientes com DPI-FP, com diferença média de 107,0 mL/ano a favor do nintedanibe. A Food and Drug Administration (EUA) e a Agência Nacional de Vigilância Sanitária aprovaram o uso do nintedanibe em tais pacientes com base nesse achado. A pirfenidona foi avaliada em pacientes com DPI não classificada e em pacientes com outras DPI, e os resultados foram semelhantes aos do nintedanibe. Mais estudos são necessários para identificar marcadores de risco aumentado de progressão em pacientes com DPI e determinar a probabilidade de resposta ao tratamento com medicamentos-padrão ou novos.

Optic neuromyelitis in relation with juvenile idiopathic arthritis: A case report

Optic neuromyelitis (ONM), also called neuromyelitis optica spectrum (Neuromyelitis Optica Spectrum Disorders, NMOSD) is recognized as an inflammatory autoimmune demyelinating disease of the central nervous system, mediated by autoantibodies against the aquaporin-4 receptor (AQP4-IgG). It predominantly affects the optic nerves and the spinal cord.1-3 It is known that patients with immune disorders are more likely to present other autoimmune diseases, but the relation between juvenile idiopathic arthritis and ONM has not been completely described.5 In this paper, we report a case of a patient with juvenile idiopathic arthritis, presenting with a rapidly progressive neurological condition, who is treated with biological drugs.1-4

La neuromielitis óptica (NMO), también llamada espectro de la neuromielitis óptica (neuromyelitis optica spectrum disorders) se reconoce como una enfermedad inflamatoria, autoinmune, desmielinizante del sistema nervioso central, mediada por autoanticuerpos contra el receptor de acuaporina 4 (AQP4-IgG) que afecta predominantemente a los nervios ópticos y la médula espinal1-3. Es conocido que los pacientes con trastornos inmunitarios tienen más probabilidades de presentar otras enfermedades autoinmunes; sin embargo, no está completamente descrita la asociación entre artritis idiopática juvenil y NMO5. En este escrito se reporta el caso de una paciente que cursa con artritis idiopática juvenil, inició con compromiso neurológico rápidamente progresivo, y es tratada con medicamentos biológicos1-4.

Enfermedad de Scheuermann lumbar atípica en rara asociación con artritis idiopática juvenil / Atypical lumbar Scheuermann disease and juvenile idiopathic arthritis: a rarely association

El dolor lumbar en los adolescentes es causa frecuente de motivo de consulta en reumatología y obedece a diferentes causas. Se presenta un caso clínico de un adolescente de 14 años de edad, de procedencia rural que acudió a consulta refiriendo dolor y aumento de volumen de ambas rodillas de 3 meses de evolución, acompañado de dolor lumbar desde hacía más de 2 años y que había requerido tratamiento con antinflamatorios no esteroideos y reposo, sin otros síntomas sistémicos acompañantes. Al examen físico se encontró artritis de rodillas, aumento de la cifosis fisiológica en la columna dorsal y puntos sacroilíacos positivos. En los exámenes complementarios fue significativa la presencia del HLA-B27, sinovitis en bolsa subcuadricipital bilateral detectada mediante ultrasonido de rodillas, así como hallazgos en las radiografías a nivel de los cuerpos de las vértebras lumbares característicos de la enfermedad de Scheuermann, y esclerosis de ambas sacroilíacas, características de artritis idiopática juvenil. Se concluyó que el paciente padecía de dos afecciones que por mecanismos diferentes causan dolor lumbar(AU)

Low back pain in adolescents is a frequent reason for consultation in rheumatology and is due to different causes. A clinical case of a 14-year-old adolescent from rural origin who comes to the clinic reporting pain and volume increase in both knees of three months of evolution accompanied by low back pain of more than two years of evolution that had required treatment is presented. with non-steroidal anti-inflammatory drugs and rest, without other accompanying systemic symptoms, physical examination revealed knee arthritis, increased physiological kyphosis in the thoracic spine and positive sacroiliac points. In the complementary tests, the presence of HLA-B27, synovitis in the bilateral sub quadriceps bursa on ultrasound of the knees, findings in the radiographs at the level of the bodies of the lumbar vertebrae characteristic of Scheuermann's disease, and sclerosis of both sacroiliacs' characteristic of juvenile idiopathic arthritis, it is concluded that the patient suffers from two conditions, which by different mechanisms cause low back pain(AU)

Caracterización clínica de pacientes con fibrosis pulmonar idiopática en un hospital de tercer nivel en la ciudad de Quito-Ecuador / Clinical Characterization of patients with Idiopathic Pulmonary Fibrosis in a Tertiary Hospital of the City of Quito-Ecuador

RESUMEN Introducción: La fibrosis pulmonar idiopática es una enfermedad progresiva y fa tal caracterizada por el hallazgo de neumonía intersticial usual en tomografía de alta resolución o biopsia pulmonar, o en discusión multidisciplinar y el descarte de otras etiologías como enfermedades del tejido conectivo o exposicionales. En cuanto a los objetivos de este trabajo, consisten en conocer las características clí nicas, la función pulmonar y la supervivencia del grupo de pacientes con diagnóstico de fibrosis pulmonar idiopática evaluados en la clínica de intersticiales del Hospital Carlos Andrade Marín. Material y métodos: Se trata de un estudio transversal, retrospectivo, observacional. La población de estudio la constituyeron los pacientes con diagnóstico de fibrosis pul monar idiopática atendidos en la clínica de intersticiales del Hospital Carlos Andrade Marín entre enero del 2018 y febrero del 2020. Resultados: De 35 pacientes con fibrosis pulmonar idiopática incluidos para el análi sis, el 85,7% fueron del sexo masculino. Al momento del diagnóstico, la edad pro medio fue de 69,7 años (DE: 9,26, Rango: 38-87 años). El 20% y 37,1% presentaron disnea de grado 3 y grado 4, respectivamente. El 60% presentaron antecedentes de tabaquismo. El 45,7% de los diagnósticos se hicieron tanto con evaluación clínica multidisciplinaria y tomografía axial computarizada de alta resolución. Conclusiones: Hemos informado la mayor cohorte de fibrosis pulmonar idiopática en el Ecuador, nuestros resultados han identificado poblaciones similares con otros gru pos de estudio en los que la tomografía computarizada de alta resolución y el análisis multidisciplinar son los métodos más utilizados en el diagnóstico.

ABSTRACT Background: idiopathic pulmonary fibrosis is a progressive, fatal disease character ized by the findings of usual interstitial pneumonia in a high resolution tomography or lung biopsy, or in a multidisciplinary discussion, also discarding other etiologies such as connective tissue diseases or diseases associated with toxic exposure. The objective of this work was to know the clinical characteristics, lung function and survival of the group of patients diagnosed with idiopathic pulmonary fibrosis who were evaluated at the Interstitial Lung Disease Clinic of the Hospital Carlos Andrade Marín. Methods: retrospective, cross-sectional, observational study. The study population consisted of patients diagnosed with idiopathic pulmonary fibrosis who had been treat ed at the Interstitial Lung Disease Clinic of the Hospital Carlos Andrade Marín between January, 2018 and February, 2020. Results: 85.7% of the 35 patients with idiopathic pulmonary fibrosis included in the analysis were male. At the time of the diagnosis, the mean age was 69.7 years (SD [standard deviation]: 9.26, range: 38-87 years). 20% and 37.1% of patients showed dyspnea grade 3 and 4, respectively. 60% had smoking history. 45.7% of the diagnoses were made with a multidisciplinary clinical evaluation and high resolution computed axial tomography. Conclusions: we have reported the largest cohort of patients with idiopathic pulmo nary fibrosis in Ecuador; our results identified similar populations with other study groups where the high resolution computed tomography and multidisciplinary analysis are the most used methods for the diagnosis.

Fibrosis pulmonar familiar en el síndrome de Hermansky-Pudlak

La fibrosis pulmonar familiar en el contexto del síndrome de Hermansky-Pudlak es una entidad nosológica poco frecuente y cuyo único enfoque terapéutico definitivo es el trasplante pulmonar en los estadios avanzados. Describimos algunos aspectos clínicos diagnósticos y terapéuticos que configuran el manejo de las enfermedades huérfanas en países como el nuestro.

Family pulmonary fibrosis in the context of Hermansky-Pudlak syndrome is a rare nosological entity whose only definitive therapeutic approach is lung transplantation in the advanced stages. We describe some diagnostic and therapeutic clinical aspects that shape the management of orphan diseases in countries like ours.

Idiopathic intracranial hypertension: an illustrated guide for the trainee radiologist / Hipertensão intracraniana idiopática: um guia ilustrado para o residente de radiologia

Abstract Idiopathic intracranial hypertension is characterized by increased intracranial pressure, headache, and visual perturbations. Although the pathophysiology of idiopathic intracranial hypertension is obscure, several mechanisms have been proposed, such as increased cerebral blood volume, excessive cerebrospinal fluid volume (due to high production or impaired resorption), and inflammatory mechanisms as a likely cause of or contributor to impaired cerebrospinal fluid circulation. It predominantly affects women of reproductive age who are overweight or obese. The most common symptoms are daily headache, synchronous pulsatile tinnitus, transient visual perturbations, and papilledema with visual loss. The main neuroimaging findings are a partially empty sella turcica; flattening of the posterior sclera; transverse sinus stenosis (bilateral or in the dominant sinus); a prominent perioptic subarachnoid space, with or without optic nerve tortuosity; and intraocular protrusion of the optic nerve head. The main complication of idiopathic intracranial hypertension is visual loss. Within this context, neuroimaging is a crucial diagnostic tool, because the pathology can be reversed if properly recognized and treated early.

Resumo A hipertensão intracraniana idiopática é caracterizada por aumento da pressão intracraniana, cefaleia e manifestações visuais. Apresenta fisiopatologia incerta, porém, alguns mecanismos já foram propostos, como o aumento do volume sanguíneo cerebral, o excesso de líquor por aumento da produção ou a redução da reabsorção, e mecanismos inflamatórios como fator causal ou mesmo determinando limitação na circulação do líquor. Predomina em mulheres obesas em idade reprodutiva. Os sintomas e sinais mais comuns são cefaleia diária, zumbido síncrono ao pulso, obscurecimentos visuais transitórios e papiledema com perda visual. Os principais achados em neuroimagem são: sela turca vazia, achatamento posterior do globo ocular/esclera, estenose do seio transverso bilateral ou do seio dominante, distensão do espaço liquórico perióptico com ou sem tortuosidade do nervo óptico e protrusão intraocular da cabeça do nervo óptico. A principal complicação da hipertensão intracraniana idiopática é a perda visual. Nesse contexto, o papel da neuroimagem no diagnóstico é fundamental, pois a doença pode ser revertida se devidamente reconhecida e precocemente tratada.

Calcinosis escrotal idiopática: Reporte de un caso / Idiopathic scrotal calcinosis. A case report

Resumen El calcio participa en muchos procesos fisiológicos. La calcinosis cutis es una enfermedad de depósito de calcio en la dermis. La calcicosis escrotal idiopática (CEI) es una forma común de calcinosis cutis idiopática. Se presenta el caso de un paciente masculino de 28 años de edad, con clínica de masas múltiples en escroto, de color blanco, tamaños variados, no dolorosas. Los niveles de calcio y fósforo se mostraron dentro de los rangos normales, característico de calcinosis de tipo idiopática, mientras que la vitamina D y la PTH se mostraron fuera de los límites normales. Se realiza una cirugía menor de las lesiones nodulares circunscritas, de diversos tamaños y de bordes regulares. El examen histológico post-biopsia confirmó el diagnóstico de calcinosis cutis. Se prescribió una dieta baja en calcio como método preventivo a largo plazo. A pesar de lo infrecuente de esta condición debe tenerse en cuenta al realizar un diagnóstico diferencial. Su etiología es aún desconocida y puede presentarse de manera asintomática. Lo importante es brindar al paciente una mejor calidad de vida, evitar incomodidades y baja autoestima debido al aspecto estético.

Abstract Calcium participates in many physiological processes. Calcinosis cutis is a disease caused by calcium deposition in the dermis. Idiopathic scrotal calcinosis (ICS) is a common form of idiopathic calcinosis cutis. A 28-year-old male patient was evaluated, with symptoms of multiple white masses in the scrotum, of various sizes, not painful. Calcium and phosphorus levels were within normal ranges, characteristic of idiopathic calcinosis, while vitamin D and PTH were outside the normal limits. Minor surgery was performed on circumscribed nodular lesions of various sizes with regular borders. Post-biopsy histological examination confirmed the diagnosis of calcinosis cutis. A low-calcium diet was prescribed as a long-term preventive method. Despite the infrequency of this condition, it should be taken into account when making a differential diagnosis. Its etiology is still unknown and it can present asymptomatically. The important thing is to provide the patient with a better quality of life, avoid discomfort and low self-esteem due to the aesthetic aspect.

Seguimiento de 20 pacientes portadores de fibrosis pulmonar idiopática tratados con nintedanib / Follow-up of 20 patients with idiopathic pulmonary fibrosis treated with nintedanib

Se presenta un estudio observacional compasivo de seguimiento de 20 pacientes portadores de Fibrosis Pulmonar Idiopática tratados con Nintedanib, que muestra que Nintedanib es un medicamento en general bien tolerado, sin efectos adversos serios, que otorga una sobrevida más prolongada que la que cabría esperar en pacientes con esta enfermedad.

A compassionate observational follow-up study of 20 patients with Idiopathic Pulmonary Fibrosis treated with Nintedanib is presented, showing that Nintedanib is a generally well-tolerated drug, with no serious adverse effects, that grants a longer survival in real-life patients.

Tratamiento de fibrosis pulmonar idiopática con células madre adultas autólogas de médula ósea / Treatment of idiopathic pulmonary fibrosis with autologous adult bone marrow stem cells

Introducción: La fibrosis pulmonar idiopática representa una enfermedad degenerativa con pronóstico nefasto, cuyas opciones terapéuticas son muy limitadas, por lo que es necesario evaluar alternativas asequibles a la población. Objetivo: Evaluar el tratamiento con células madre adultas autólogas de médula ósea de paciente de 68 años con diagnóstico radiológico de fibrosis pulmonar y disnea en reposo. Presentación del caso: La paciente acudió a consulta con disnea en reposo y saturación digital de 74 por ciento, la cual después de su primer tratamiento endovenoso con células madre adultas de médula ósea, logró una mejoría significativa con saturaciones que oscilaron entre 85 y 90 por ciento, a los 4 meses de la primera terapia. A los 8 meses de la primera sesión recibió una segunda dosis, con la cual subió la saturación a valores entre 94 y 97 por ciento, a las tres semanas de ésta última. Conclusión: El tratamiento con células madre adultas autólogas de médula ósea podría mejorar los signos y síntomas de los pacientes con fibrosis pulmonar idiopática(AU)

Introduction: Idiopathic pulmonary fibrosis represents a degenerative disease with a dire prognosis, whose therapeutic options are very limited, so it is necessary to evaluate alternatives available to the population. Objective: To evaluate treatment with autologous adult bone marrow (BM) stem cells in a 68-year-old patient with a radiological diagnosis of pulmonary fibrosis and dyspnea at rest. Case presentation: The patient attended the consultation with dyspnea at rest, and digital saturation of 74 percent, which after her first intravenous treatment with adult bone marrow stem cells, achieved significant improvement, with saturations ranging between 85 and 90 percent at 4 months after the first therapy. Eight months after the first session, she received a second dose, with which she increased the saturation to values between 94 and 97 percent, three weeks after the latter. Conclusion: Conclusion: Treatment with autologous adult bone marrow stem cells could improve the signs and symptoms of patients with idiopathic pulmonary fibrosis(AU)

Idiopathic left fascicular ventricular tachycardia in children and adolescents / Taquicardia ventricular fascicular izquierda idiopática en niños y adolescentes

Abstract Background: Idiopathic ventricular tachycardia (VT) in children with structurally normal hearts is generally unrelated to the risk of sudden arrhythmic death. Still, it may be associated with deterioration in the quality of life. VT involving the fascicular conduction system is the most typical form of idiopathic left VT. In this retrospective study, we describe the experience of the clinical presentation, catheter ablation, and long-term follow-up of left fascicular VT in children. Methods: An electrophysiological study was performed on consecutive children at a single tertiary center. Clinical fascicular left VT was induced by programmed stimulation, and catheter ablation was guided searching for Purkinje potentials. Results: We included 18 patients (0.8 patients/year): 14 (77.8%) males and four females. The mean age of the first VT episode was 8.5 ± 5 years. Intravenous verapamil administration was effective for paroxysmal fascicular VT but not for prevention of recurrences. The mean age at the time of catheter ablation was 11.1 ± 3.8 years (8 months-16 years). The mean weight was 36.8 ± 16.4 kg (8.7-58 kg). A 100% success rate was observed with catheter ablation after repeated procedures without major complications. Mean follow-up was 2.0 ± 1.2 years (1.0-4.0 years, median 1.5), with permanent success in all patients and no antiarrhythmic drug administration. Conclusions: Fascicular VT has an adverse clinical course in children. In most cases, this condition is drug refractory. Catheter ablation is successful and safe treatment and should represent the first-line approach in symptomatic children.

Resumen Introducción: La taquicardia ventricular (TV) idiopática en niños con corazón estructuralmente normal generalmente no se relaciona con el riesgo de muerte súbita arrítmica, pero puede asociarse con deterioro de la calidad de vida. La TV que involucra el sistema de conducción fascicular es la forma más común de TV izquierda idiopática. En este estudio retrospectivo se describe la experiencia de presentación clínica, ablación con catéter y seguimiento a largo plazo de TV fascicular en niños. Métodos: Se llevó a cabo un estudio electrofisiológico en niños consecutivos en un centro terciario. La TV fascicular clínica se indujo mediante la estimulación programada y la ablación con catéter fue guiada buscando el registro de potenciales de Purkinje. Resultados: Se incluyeron 18 pacientes (0.8 pacientes/año): 14 (77.8%) de sexo masculino y cuatro de sexo femenino. La media de edad a la cual ocurrió el primer episodio fue de 8.5 ± 5 años. La administración intravenosa de verapamilo fue eficaz para la TV fascicular paroxística, pero no para prevención de recurrencias. La media de edad de la ablación con catéter fue de 11.1 ± 3.8 años (8 meses-16 años). La media del peso fue 36.8 ± 16.4 kg (8.7-58 kg). Se observó el 100% de éxito con la ablación con catéter después de procedimientos repetidos sin complicaciones mayores. La media de seguimiento fue de 2.0 ± 1.2 años (1.0-4.0, mediana de 1.5 años) con éxito permanente en todos los pacientes y sin administración de fármacos antiarrítmicos. Conclusiones: En niños, el curso clínico de la TV fascicular es adverso. Además, en la mayoría de los casos, esta condición es refractaria a fármacos. La ablación con catéter resulta exitosa y segura y debe representar el abordaje de primera línea en niños sintomáticos.