Artritis idiopática juvenil en el adulto joven. Metodología, objetivos y datos iniciales del registro JUVENSER / Juvenile idiopathic arthritis in the young adult. Methodology, objectives, and initial data from the JUVENSER registry

Objetivo: Describir la metodología, los objetivos y exponer los datos iniciales del registro de pacientes adultos jóvenes con diagnóstico de artritis idiopática juvenil (AIJ), registro JUVENSER, así como sus fortalezas y limitaciones. El objetivo principal del proyecto es conocer las características sociodemográficas, clínicas y la actividad de la enfermedad de pacientes con AIJ en el periodo de transición a la vida adulta. Material y método: Estudio longitudinal, prospectivo y multicéntrico que incluye pacientes adultos jóvenes, entre 16 y 25 años, con diagnóstico de AIJ en cualquiera de sus categorías, atendidos en consultas de reumatología de 16 centros hospitalarios españoles cuyo objetivo principal es determinar las características y la actividad de las AIJ en los primeros años de la vida adulta. Se diseñó un registro en el que se incluyeron variables sociodemográficas, variables clínicas, índices de actividad y daño articular, datos de la utilización de recursos sanitarios, y los fármacos y tratamientos utilizados. El periodo de reclutamiento fue de 27 meses y la duración total del proyecto serán 3 años. Se ha conseguido una cohorte de 534 pacientes adultos jóvenes. Conclusiones: El registro JUVENSER constituirá una cohorte de pacientes adultos jóvenes con AIJ, que permitirá evaluar las características clínicas y la respuesta al tratamiento de los pacientes con inicio de su enfermedad en edad pediátrica que llegan a las consultas de adultos. Se espera que la información recogida en las visitas suponga una amplia fuente de datos para futuros análisis.(AU)

Objective: To describe the methodology, objectives, and initial data of the registry of young adult patients diagnosed with Juvenile Idiopathic Arthritis (JIA), JUVENSER. The main objective of the project is to know the sociodemographic and clinical characteristics, and disease activity of patients with JIA reaching the transition to adulthood. Material and method: Longitudinal, prospective, multicentre study, including patients between 16 and 25 years old, with a diagnosis of JIA in any of its categories. The main objective is to determine the characteristics and activity of JIA in the young adult. It includes sociodemographic variables, clinical variables, disease activity and joint damage rates, data on the use of health resources, and treatments used. The total duration of the project will be 3 years. A cohort of 534 young adult patients was obtained. Conclusions: The JUVENSER registry will constitute a cohort of young adults with JIA, which will allow the evaluation of the clinical characteristics and response to treatment of patients with disease onset in childhood, moving to adult clinics.(AU)

Juvenile idiopathic arthritis in the young adult. Methodology, objectives, and initial data from the JUVENSER registry.

OBJECTIVES: To describe the methodology, objectives, and initial data of the registry of young adult patients diagnosed with Juvenile Idiopathic Arthritis (JIA), JUVENSER. The main objective of the project is to know the sociodemographic and clinical characteristics, and disease activity of patients with JIA reaching the transition to adulthood. MATERIAL AND METHOD: Longitudinal, prospective, multicentre study, including patients between 16 and 25 years old, with a diagnosis of JIA in any of its categories. The main objective is to determine the characteristics and activity of JIA in the young adult. It includes sociodemographic variables, clinical variables, disease activity and joint damage rates, data on the use of health resources, and treatments used. The total duration of the project will be 3 years. A cohort of 534 young adult patients was obtained. CONCLUSIONS: The JUVENSER registry will constitute a cohort of young adults with JIA, which will allow the evaluation of the clinical characteristics and response to treatment of patients with disease onset in childhood, moving to adult clinics.

Síndrome tricorinofalángico / Trichorhinophalangeal syndrome

El síndrome tricorinofalángico I (TPRSI) tiene una herencia autosómica dominante, la proporción de casos «de novo» es desconocida1. Se caracteriza por rasgos faciales únicos, nariz de extremo bulboso, surco nasolabial plano y alargado, cabello escaso y de crecimiento lento. Anomalías esqueléticas que incluyen falanges y metacarpianos cortos -braquidactilia-, epífisis en forma de cono, displasia de cadera y estatura baja1-3. Presentamos los casos de una familia con 7 miembros afectos de TRPSI

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo» cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3

Tratamiento con rituximab en dermatomiositis juvenil. efecto sobre la calcinosis / Treatment with rituximab in juvenile dermatomyositis: effect on calcinosis

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Trichorhinophalangeal syndrome. / Síndrome tricorinofalángico.

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo¼ cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3.

Aportación de la resonancia magnética periférica al diagnóstico de leucemia linfoblástica aguda / Peripheral magnetic resonance scan in the diagnosis of acute lymphoblastic leukaemia

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Lipomatosis arborescens en rodilla pediátrica. Resonancia magnética nuclear / Lipoma arborescens in pediatric Knee. Nuclear magnetic resonance

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Lupus neonatal / Neonatal lupus

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Low doses of etanercept can be effective in ankylosing spondylitis patients who achieve remission of the disease.

This study aims to explore the effectiveness of low dose of etanercept (ETN) in patients with ankylosing spondylitis (AS) who achieve a good control of their disease in daily clinical practice. This is a case series of AS patients treated with ETN. According to the judgment of the treating rheumatologist and patient's preferences, a dose reduction was done in those patients who achieved a good control of their disease defined by Bath ankylosing spondylitis disease activity index (BASDAI) <4 and C-reactive protein normal values. Fifty-one AS patients treated with ETN were identified and 16 of them (32%) were on dose reduction regimen. Several regimens of dose reduction were used. These patterns were fixed and they did not change along the time. Mean time receiving ETN before adjusting the dose was 17 ± 12 months. Mean follow-up after dose change was 21 ± 21 months. At this point, all the patients in whom dose reduction was done remained in the low-dose regimen. Median BASDAI (range) at starting the low-dose regimen and 6 months later were 1.6 (0.9-2.4) and 1.4 (0.3-3.2), respectively. Median CRP values (range) at starting the low dose regimen and 6 months later were 1 mg/l (0.1-2.8), and 1.3 mg/l (0.3-4.1), respectively. Other disease-related variables also remained unchanged. Patients with follow up at 12 and 24 months and longer remained in clinical remission with BASDAI values <2 and normal CRP values. Our data suggest that AS patients in clinical remission can use low doses of ETN without increasing disease activity. So, it can be a promising strategy but additional studies are needed to prove it.

Miopatía por cloroquina / Chloroquine myopathy

La cloroquina es un antipalúdico de síntesis, también empleado en el tratamiento de diversas enfermedades reumatológicas y dermatológicas. Entre sus efectos secundarios, asociados a uso prolongado, destacan retinopatía, miopatía y cardiomiopatía. Describimos el caso de una mujer de 60 años diagnosticada de artritis reumatoide hace 8 años y tratada desde entonces con cloroquina, que presentó signos de insuficiencia cardiaca congestiva y una tetraparesia de predominio proximal. Se practicó biopsia de músculo esquelético que puso de manifiesto la existencia de una miopatía necrosante-vacuolar, observándose en el estudio ultraestructural fibras musculares muy alteradas con presencia de perfiles curvilíneos como los que se describen en la miopatía causada por cloroquina (AU)

Regresión de un linfoma asociado al virus de Epstein-Barr tras la retirada de metotrexato y ciclosporina A en una paciente con artritis reumatoide / Regression of Epstein-Barr virus associated lymphoma after methotrexate and cyclosporine A with drawal in a patient with rheumathoid arthritis

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