Differences between leukemic arthritis and juvenile idiopathic arthritis.

OBJECTIVES: To determine the clinical and laboratory differences between leukemic arthritis (LA) and juvenile idiopathic arthritis (JIA) at the onset of the disease. MATERIAL AND METHODS: Patients under 16 years of age, both genders, who presented for the first time to the pediatric rheumatology service with a diagnosis of probable JIA, with arthritis and without peripheral blood blasts, in which the final diagnosis was acute lymphoblastic leukemia (ALL) or JIA. The clinical and laboratory characteristics of the patients were compared, chi-square and relative risk were used for categorical variables, and the Mann-Whitney U and T-test for the comparison of means between groups. A binary logistic regression model was developed to differentiate leukemic arthritis from JIA. RESULTS: A total of 76 patients, 14 with LA and 62 with JIA, were analyzed. The mean age at diagnosis was lower in the leukemic arthritis group, the female gender prevailed in the JIA group, and the time to onset of symptoms was lower in the leukemic arthritis group. Patients with leukemic arthritis showed increased pain intensity, fever, weight loss, nocturnal diaphoresis, lymph node enlargement, hepatosplenomegaly, and pain that did not improve with analgesic administration. Laboratory parameters with statistical significance were the presence of anemia, leukopenia, and neutropenia. The platelet count was significant but in a low normal value, compared to the JIA. A binary logistic regression model was developed to differentiate leukemic arthritis from JIA. The probability associated with the statistic (Chi-square) was 0.000, and the Cox and Snell R2 and Nagelkerke R2 values were 0.615 and 1, respectively. The developed model correctly classified 100% of the cases. CONCLUSIONS: The diagnosis of acute lymphoblastic leukemia should be ruled out in patients who present with arthritis and hematological alterations, mainly leukopenia and neutropenia, with joint pain disproportionate to the degree of arthritis, predominantly at night and that does not improve with the use of analgesics, fever, lymph nodes, and hepatosplenomegaly. Criteria are suggested to differentiate both diseases.

Differential Expression of Proteins in an Atypical Presentation of Autoimmune Lymphoproliferative Syndrome.

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease defined as a defect in the lymphocyte apoptotic pathway. Currently, the diagnosis of ALPS is based on clinical aspects, defective lymphocyte apoptosis and mutations in Fas, FasL and Casp 10 genes. Despite this, ALPS has been misdiagnosed. The aim of this work was to go one step further in the knowledge of the disease, through a molecular and proteomic analysis of peripheral blood mononuclear cells (PBMCs) from two children, a 13-year-old girl and a 6-year-old boy, called patient 1 and patient 2, respectively, with clinical data supporting the diagnosis of ALPS. Fas, FasL and Casp10 genes from both patients were sequenced, and a sample of the total proteins from patient 1 was analyzed by label-free proteomics. Pathway analysis of deregulated proteins from PBMCs was performed on the STRING and PANTHER bioinformatics databases. A mutation resulting in an in-frame premature stop codon and protein truncation was detected in the Fas gene from patient 2. From patient 1, the proteomic analysis showed differences in the level of expression of proteins involved in, among other processes, cell cycle, regulation of cell cycle arrest and immune response. Noticeably, the most down-regulated protein is an important regulator of the cell cycle process. This could be an explanation of the disease in patient 1.

Primary antiphospholipid syndrome in pediatrics: beyond thrombosis. Report of 32 cases and review of the evidence.

OBJECTIVE: Describe the frequency of thrombotic and non-thrombotic clinical manifestations, laboratory, treatment and prognosis in patients with pediatric primary antiphospholipid syndrome. MATERIAL AND METHODS: A retrospective study was carried out in patients with a diagnosis of primary antiphospholipid antibody syndrome, under 16 years of age, under follow-up by the pediatric rheumatology service of the General Hospital, National Medical Center, La Raza, from January 2013 to December 2020. The antiphospholipid syndrome was defined when it met the laboratory criteria of the Sidney criteria and the presence of thrombosis or non-criteria manifestations of the disease (hematological, neurological, cutaneous, renal, cardiac or pulmonary). Demographic, clinical, laboratory, treatment, and prognosis data were collected. RESULTS: We report 32 patients, 21 female (65%) and 11 male (35%), mean age 11.75 years, evolution time 16 weeks. Thrombosis 9 patients (28%), 1 arterial and 8 venous. Non-thrombotic manifestations; Hematologic: thrombocytopenia 22 patients (69%), autoimmune hemolytic anemia 13 (40%), Fisher-Evans syndrome 6 (19%), lupus anticoagulant with hypoprothrombinemia syndrome 2 (6%). Dermatological: livedo reticularis 20 (62%), skin ulcers 2 (6%), Raynaud's phenomenon 8 (25%). Neurological: epilepsy 1 (3%), migraine 3 (9%), chorea 1 (3%) and cognitive impairment 3 (9%). Renal in 4 (13%). Laboratory: prolonged aPTT 30 (93%), lupus anticoagulant 32 (100%), positive IgG anticardiolipin 20 (62%), positive IgM anticardiolipin 19 (60%). AntiB2GPI was performed in only 3 patients, being positive in all. TREATMENT: anticoagulation in patients with thrombosis, antiplatelet in 23 (72%), steroid 30 (94%), immunosuppressant 30 (94%) and rituximab 4 (12.5%). No deaths were reported. CONCLUSIONS: The clinical characteristics of patients with pediatric primary antiphospholipid syndrome differ from those presented in adults, since non-thrombotic manifestations are more frequent in children, for which classification criteria that include these manifestations are necessary for a better characterization of the disease in pediatric population.

Shrinking lung syndrome in pediatric systemic lupus erythematosus.

OBJECTIVE: To describe clinical, radiological and treatment characteristics in pediatric patients with SLS. MATERIAL AND METHODS: This is a descriptive and retrospective study in patients under 16 years old with the diagnosis of SLE complicated by SLS at the General Hospital. National Medical Center La Raza. Clinical, radiological and treatment variables were analyzed. Results are shown in frequencies and percentages. RESULTS: Data from 11 patients, 9 females and 2 males were collected. Mean age at diagnosis of SLS was 12.2 years. Age at diagnosis of SLE was 11.1 years. SLEDAI 17.3. Renal desease 72%, hematological 91%, lymphopenia 63%, mucocutaneous 72%, neurological 9%, arthritis 54%, serositis 91%, fever 81%, secondary antiphospholipid syndrome, low C3 72%, low C4 81%, positive ANA 91%, positive anti-DNA 91%. Regarding clinical manifestations of SLE: cough 81%, dyspnea 91%, hipoxemia 81%, pleuritic pain 71%, average oxygen saturation 83%. Chest X-rays findings: right hemidiaphragm affection 18%, left 63%, bilateral 18%. Elevated hemidiaphragm 91%, atelectasis 18%, pleural effusion 91%, over one third of the cardiac silhouette under the diphragm 36%, bulging diaphragm 45%, 5th. anterior rib that crosses over the diaphragm 91%. M-mode ultrasound: diaphragmatic hypomotility 100%, pleural effusion 63%. Pulmonary function tests: restrictive pattern in 45% of the cases. Treatment was with supplementary oxygen 100%, intubation 18%, antibiotics 100%, steroids 100%, intravenous immunoglobulin 54%, plasmapheresis 18%, cyclophosphamide 54% and rituximab 18%. The clinical course was favorable in 81%. CONCLUSIONS: SLS should be suspected in patients with SLE and active disease who present hipoxemia, pleuritic pain, cough, dyspnea, pleural effusion and signs of restriction on chest X-rays. Therefore, a diaphragmatic M-mode ultrasound should be performed in order to establish the diagnosis.

Edema subcutáneo en dermatomiositis juvenil / Subcutaneous edema in juvenile dermatomyositis

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Frecuencia de la afección auditiva y los factores asociados en pacientes con artritis idiopática juvenil / Frequency of auditory involvement and of associated factors in patients with juvenile idiopathic arthritis

Introducción: La artritis idiopática juvenil (AIJ) es una enfermedad autoinmune de curso crónico, caracterizada por la presencia de artritis en menores de 16 años, por más de 6 semanas en ausencia de otra causa conocida. La expresión extra articular en el sistema audiovestibular se relaciona con la afección de las articulaciones de la cadena oscicular, como consecuencia del proceso inflamatorio de la membrana sinovial. Estudios previos realizados en población infantil han reportado que la pérdida auditiva puede ser de tipo neurosensorial y/o conductiva. Objetivo: Determinar la frecuencia de la afección auditiva y los factores asociados en los pacientes con AIJ. Metodología: Estudio prospectivo y analítico. Se incluyó a 62 pacientes con AIJ con edades comprendidas entre 5 y 15 años, a partir de agosto del 2013 a enero del 2014. El estudio fue aprobado por el comité de ética local y los padres firmaron el consentimiento bajo información. Se realizó otoscopia microscópica, audiometría tonal, timpanometría, reflejo estapedial y emisiones otoacústicas transitorias (EOT); la evaluación reumatológica incluyó exploración articular y aplicación de cuestionario para la evaluación del estado de salud en la infancia (CHAQ). Se utilizaron medidas de tendencia y de dispersión; asociación χ2 con una p<0,05 para la significación estadística. Resultados: Se incluyó a 62 pacientes; 56 niñas y 6 niños, edad media 11,9 años, duración media de la enfermedad de 3,4 años; el 46% presentó AIJ poliarticular factor reumatoide (FR) positivo; el 40%, AIJ poliarticular FR negativo; el 15% AIJ sistémica y el 3% oligoarticular. Se encontró enfermedad activa en 29 pacientes y 33 en remisión con medicamentos. Se evaluaron en total 124 oídos; en 78 se encontró curva tipo As de la clasificación de Jerger, curva tipo A en 45 y en uno se reportó curva tipo AD. En la audiometría tonal no se encontró hipoacusia en ningún paciente y esta estuvo acorde con la logoaudiometría. Las EOT se encontraron ausentes en el 4% de los evaluados y sin reflejo estapedial en menos del 10%. Los factores que presentaron una asociación con la afección auditiva fueron la variedad poliarticular FR positivo, el tiempo de evolución, el índice de discapacidad y los niveles de VSG (p<0,001). Conclusión: Se encontró en más de la mitad de los pacientes estudiados alteraciones auditivas presentes en el timpanograma, asociadas con la variedad poliarticular FR positivo, tiempo de evolución, actividad de la enfermedad y la elevación de la VSG

Introduction: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss. Objective: The aim of this study was to assess the frequency of hearing impairment and of associated factors in patients with JIA. Methodology: A prospective, analytical study was conducted from January 2013 to August 2014 in 62 patients with JIA aged between 5 and 15 years. The study was approved by the local ethics committee and parents signed their informed consent. All subjects underwent audiological examination involving otomicroscopy, audiometry, tympanometry, stapedius reflex and test for transient otoacoustic emissions (TOAE); rheumatologic evaluation included joint examination and the application of a measure of functional ability (disability) using the Childhood Health Assessment Questionnaire (CHAQ). Measures of central tendency and of dispersion were used (chi-square for associations and P<.05 for statistical significance). Results: Sixty-two patients were included: 56 girls and 6 boys, mean age 11.9 years and mean disease duration of 3.4 years; 46% had rheumatoid factor (RF)- positive polyarticular JIA, 40% had RF-negative polyarticular JIA, 15% had disease of systemic onset and 3% had oligoarthritis. Active disease was found in 29 patients and 33 were in remission with medication. Of the total of 124 ears evaluated according to the Jerger classification for tympanometry, abnormal findings were observed in 78 that were type As and in 1 that was type Ad, whereas there were 45 type A ears. Hearing loss was disclosed by speech audiometry, rather than by pure tone audiometry. The TOAE were absent in 4% of those assessed and the stapedius reflex was absent in less than 10%. Factors that had a positive correlation with hearing impairment were RF-positive polyarticular JIA, disease duration, degree of disability and the erythrocyte sedimentation rate level (P<.000). Conclusion: The presence of an abnormal tympanogram suggested early involvement in the structure of the tympanic-ossicular complex; however, 3.4 years later, no hearing loss had been reported

Tjalma syndrome (pseudo-pseudo Meigs') as initial manifestation of juvenile-onset systemic lupus erythematosus. / Síndrome de Tjalma (pseudo-pseudo Meigs) como manifestación inicial de lupus eritematoso sistémico de inicio juvenil.

Tjalma syndrome or pseudo-pseudo Meigs' syndrome is a clinical condition characterized by pleural effusion, ascites and elevated CA-125 with no associated benign or malignant ovarian tumor in a patient with systemic lupus erythematosus (SLE). Tjalma described the first case of a patient with SLE, pleural effusion, ascites and elevated CA-125. We report the first case in a 14-year old patient who presented with ascites and pleural effusion refractory to treatment and elevated CA-125, in the absence of an ovarian tumor, that warranted aggressive management.

Frequency of auditory involvement and of associated factors in patients with juvenile idiopathic arthritis. / Frecuencia de la afección auditiva y los factores asociados en pacientes con artritis idiopática juvenil.

INTRODUCTION: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by the presence of arthritis in children under 16 years of age for more than 6 weeks in the absence of any other known cause. The extra-articular manifestations, especially in the audiovestibular system, are related to the involvement of the joints of the ossicular chain as a result of the inflammatory process in the synovium. Previous clinical studies in pediatric patients have shown conductive or sensorineural hearing loss. OBJECTIVE: The aim of this study was to assess the frequency of hearing impairment and of associated factors in patients with JIA. METHODOLOGY: A prospective, analytical study was conducted from January 2013 to August 2014 in 62 patients with JIA aged between 5 and 15 years. The study was approved by the local ethics committee and parents signed their informed consent. All subjects underwent audiological examination involving otomicroscopy, audiometry, tympanometry, stapedius reflex and test for transient otoacoustic emissions (TOAE); rheumatologic evaluation included joint examination and the application of a measure of functional ability (disability) using the Childhood Health Assessment Questionnaire (CHAQ). Measures of central tendency and of dispersion were used (chi-square for associations and P<.05 for statistical significance). RESULTS: Sixty-two patients were included: 56 girls and 6 boys, mean age 11.9 years and mean disease duration of 3.4 years; 46% had rheumatoid factor (RF)- positive polyarticular JIA, 40% had RF-negative polyarticular JIA, 15% had disease of systemic onset and 3% had oligoarthritis. Active disease was found in 29 patients and 33 were in remission with medication. Of the total of 124 ears evaluated according to the Jerger classification for tympanometry, abnormal findings were observed in 78 that were type As and in 1 that was type Ad, whereas there were 45 type A ears. Hearing loss was disclosed by speech audiometry, rather than by pure tone audiometry. The TOAE were absent in 4% of those assessed and the stapedius reflex was absent in less than 10%. Factors that had a positive correlation with hearing impairment were RF-positive polyarticular JIA, disease duration, degree of disability and the erythrocyte sedimentation rate level (P<.000). CONCLUSION: The presence of an abnormal tympanogram suggested early involvement in the structure of the tympanic-ossicular complex; however, 3.4 years later, no hearing loss had been reported.

Xantomas y macrotrombocitopenia: sitosterolemia es la respuesta / Xanthomas and macrothrombocytopenia: sitosterolaemia is the answer

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