Polymyalgia Rheumatica Post-SARS-CoV-2 Infection.

There is growing evidence that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to dysregulation of the immune system and, consequently, the development of autoimmune phenomena. Here, we describe the case of a 75-year-old woman with rheumatic manifestations characterized by intense musculoskeletal pain and stiffness in the neck and shoulders, with sudden onset and with the inability to raise her arms. The patient was admitted with severe pain located in the neck and shoulders. Previously, she had oropharyngeal pain, severe fatigue, and fever; a real-time polymerase chain reaction test for COVID-19 was positive. Two weeks later, the patient presented localized musculoskeletal pain in the neck and shoulders. Relevant laboratory results included an erythrocyte sedimentation rate of 46 mm/hr and a negative rheumatoid factor test; ultrasound findings with bilateral subacromial-subdeltoid bursitis were observed. A diagnosis of polymyalgia rheumatica (PMR) was initially made according to the EULAR/ACR provisional classification criteria for PMR; however, due to C-reactive protein negativity, the diagnosis was established based on symptoms. Management was with prednisone at the dose of 25 mg/day for 4 weeks and progressive reduction until prednisone suspension. The patient showed complete recovery at 6 months of follow-up. In this case, COVID-19 was implicated in the development of autoimmune and inflammatory rheumatic manifestations. PMR is a rare rheumatic condition that should be included in the wide range of rheumatologic manifestations expressed post-SARS-CoV-2 infection.

The High Clinical Burden of Erosive Hand Osteoarthritis is Associated with Clinical Findings, Pain, and Radiographic Severity.

Varying reports exist on the clinical impact of erosive hand osteoarthritis (EHOA) in terms of pain and articular function. Few studies have assessed the association of a patient's clinical features with the presence of more severe radiographic disease. The aim was to evaluate clinical and radiographic characteristics in EHOA comparing with non-erosive (NEHOA); to examine pain and functional impairment between EHOA and NEHOA; and correlate functional impairment with clinical findings, pain, and radiographic severity. METHODS: 62 patients with EHOA and 57 with NEHO were included. Pain was assessed through Visual Analogue Scale (VAS) and Australian/Canadian Osteoarthritis Hand Index (AUSCAN) pain subdomain. Functioning was evaluated with the Health Assessment Questionnaire (HAQ) concerning hand function and AUSCAN. Radiographs were scored with the Kallman scale and subchondral erosions with the Verbruggen-Veys method. Student t-tests were used for comparing quantitative data, chi-squared tests for categorical variables, and Pearson or Spearman tests for assessing correlation. RESULTS: Patients with EHOA reported significantly higher levels of pain on the VAS and AUSCAN (p<0.01). In EHOA, VAS positively correlated with the HAQ and AUSCAN scales (rho=0.68 and 0.77). In NEHOA, Visual Analogue Scale (VAS) positively and strongly correlated with HAQ and AUSCAN (rho=0.84 and 0.89). Nodes, Kallman score and erosions showed a positive but weak correlation with HAQ and AUSCAN in both groups. CONCLUSION: Both EHOA and NEHOA participants had functional impairment, but the erosive subtype had higher clinical burden and increased joint damage. This higher clinical burden is attributed mainly to pain.

The High Clinical Burden of Erosive Hand Osteoarthritis is Associated with Clinical Findings, Pain, and Radiographic Severity / La elevada carga clínica de la osteoartritis erosiva de mano está asociada con hallazgos clínicos, dolor y severidad radiográfica

Varying reports exist on the clinical impact of erosive hand osteoarthritis (EHOA) in terms of pain and articular function. Few studies have assessed the association of a patient's clinical features with the presence of more severe radiographic disease. The aim was to evaluate clinical and radiographic characteristics in EHOA comparing with non-erosive (NEHOA); to examine pain and functional impairment between EHOA and NEHOA; and correlate functional impairment with clinical findings, pain, and radiographic severity. Methods: 62 patients with EHOA and 57 with NEHO were included. Pain was assessed through Visual Analogue Scale (VAS) and Australian/Canadian Osteoarthritis Hand Index (AUSCAN) pain subdomain. Functioning was evaluated with the Health Assessment Questionnaire (HAQ) concerning hand function and AUSCAN. Radiographs were scored with the Kallman scale and subchondral erosions with the Verbruggen–Veys method. Student t-tests were used for comparing quantitative data, chi-squared tests for categorical variables, and Pearson or Spearman tests for assessing correlation. Results: Patients with EHOA reported significantly higher levels of pain on the VAS and AUSCAN (p<0.01). In EHOA, VAS positively correlated with the HAQ and AUSCAN scales (rho=0.68 and 0.77). In NEHOA, Visual Analogue Scale (VAS) positively and strongly correlated with HAQ and AUSCAN (rho=0.84 and 0.89). Nodes, Kallman score and erosions showed a positive but weak correlation with HAQ and AUSCAN in both groups. Conclusion: Both EHOA and NEHOA participants had functional impairment, but the erosive subtype had higher clinical burden and increased joint damage. This higher clinical burden is attributed mainly to pain.(AU)

Existen estudios sobre el impacto clínico de la osteoartritis erosiva de mano (OAEM) en términos de dolor y función articular. Pocos estudios han evaluado la asociación de las características clínicas del paciente con OAEM con la presencia de enfermedad radiográfica más grave. El objetivo fue evaluar las características clínicas y radiográficas en OAEM comparándolas con osteoartritis de mano no erosiva (OANEM), examinar el dolor y deterioro funcional entre OAEM y OANEM y correlacionar el deterioro funcional con los hallazgos clínicos, dolor y severidad radiográfica. Métodos: Se incluyeron 62 pacientes con OAEM y 52 con OANEM. El dolor se evaluó con Escala Visual Análoga (EVA) y el subdominio de dolor de AUSCAN. La capacidad funcional se evaluó con Health Assessment Questionaire (HAQ) relativo a la función de la mano y AUSCAN. Las radiografías se evaluaron con la escala de Kallman y las erosiones subcondrales con el método Verbruggen-Veys. Se utilizó t de Student para comparar datos cuantitativos, χ2 para variables categóricas, pruebas de Pearson o Spearman para evaluar la correlación. Resultados: Los pacientes con OAEM presentaron niveles significativamente más altos de dolor en EVA y el subdominio de dolor de AUSCAN (p<0,01) y de deterioro funcional por HAQ y Índice de manos de Osteoartritis Australiano/Canadiense (AUSCAN) (p<0,01). En OAEM, VAS correlacionó positivamente con las escalas HAQ y AUSCAN (rho=0,68 y 0,77). En OANEM, VAS se correlacionó positiva y fuertemente con HAQ y AUSCAN (rho=0,84 y 0,89). Los nódulos, puntuación de Kallman y erosiones mostraron una correlación positiva pero débil con HAQ y AUSCAN en ambos grupos. Conclusión: Los participantes con osteoartritis erosiva y no erosiva de mano presentaron deterioro funcional, pero el subtipo erosivo presentó mayor carga clínica y daño articular. La mayor carga clínica fue atribuida al dolor.(AU)

Epistasis Between Two Gene Variants of Leptin and Vascular Endothelial Growth Factor Genes in the Development of Primary Knee Osteoarthritis.

BACKGROUND: The association of leptin (LEP) and vascular endothelial growth factor A (VEGFA) genes with the susceptibility to knee osteoarthritis (OA) has been analyzed; however, the epistasis between them has not been investigated. OBJECTIVE: The objective of the study was to analyze the association of LEP and VEGFA variants and their interaction with primary knee OA in a Mexican Mestizo population. METHODS: A case-control study was developed. Cases were ≥40 years, BMI ≤27 kg/m2, with primary knee OA and radiologic Grade ≥2. Controls were participants with no knee OA and a radiologic Grade < 2. The rs2167270 of LEP and rs2010963 of VEGFA were genotyped. Genotypic association was tested under codominant, dominant, and recessive models. Uni- and multi-variate analyses were developed through non-conditional logistic regression. The multifactor dimensionality reduction algorithm was developed to detect epistasis. RESULTS: Participants comprised 103 cases and 179 controls. Allelic and genotypic distributions did not show differences between the groups. Notwithstanding, a statistically significant interaction was observed between the LEP and VEGFA genes (p = 0.02) with a testing accuracy of 0.5199 and cross-validation consistency of 10/10. This interaction model confers an increased risk to knee OA (OR [95% CI] = 1.8 [1.1-2.9]). CONCLUSION: Interaction between LEP and VEGFA is related with genetic susceptibility to developing primary knee OA.

The High Clinical Burden of Erosive Hand Osteoarthritis is Associated with Clinical Findings, Pain, and Radiographic Severity.

Varying reports exist on the clinical impact of erosive hand osteoarthritis (EHOA) in terms of pain and articular function. Few studies have assessed the association of a patient's clinical features with the presence of more severe radiographic disease. The aim was to evaluate clinical and radiographic characteristics in EHOA comparing with non-erosive (NEHOA); to examine pain and functional impairment between EHOA and NEHOA; and correlate functional impairment with clinical findings, pain, and radiographic severity. METHODS: 62 patients with EHOA and 57 with NEHO were included. Pain was assessed through Visual Analogue Scale (VAS) and Australian/Canadian Osteoarthritis Hand Index (AUSCAN) pain subdomain. Functioning was evaluated with the Health Assessment Questionnaire (HAQ) concerning hand function and AUSCAN. Radiographs were scored with the Kallman scale and subchondral erosions with the Verbruggen-Veys method. Student t-tests were used for comparing quantitative data, chi-squared tests for categorical variables, and Pearson or Spearman tests for assessing correlation. RESULTS: Patients with EHOA reported significantly higher levels of pain on the VAS and AUSCAN (p<0.01). In EHOA, VAS positively correlated with the HAQ and AUSCAN scales (rho=0.68 and 0.77). In NEHOA, Visual Analogue Scale (VAS) positively and strongly correlated with HAQ and AUSCAN (rho=0.84 and 0.89). Nodes, Kallman score and erosions showed a positive but weak correlation with HAQ and AUSCAN in both groups. CONCLUSION: Both EHOA and NEHOA participants had functional impairment, but the erosive subtype had higher clinical burden and increased joint damage. This higher clinical burden is attributed mainly to pain.

Gota tofácea en la columna lumbar causando radiculopatía / Tophaceous gout in the lumbar spine causing radiculopathy

Los depósitos de tofos en columna lumbar son una condición rara. Presentamos el caso de un varón de 44 años con dolor lumbar y radiculopatía. Las radiografías mostraron espondilolistesis lítica de L5, la resonancia magnética (RM) imagen hipointensa en T1 y heterogénea en T2 localizado en el espacio interespinoso L4-L5 y en articulación facetaria izquierda que invade el neuroforamen izquierdo. El ultrasonido de rodilla izquierda (RI) evidenció «doble contorno» del cóndilo femoral medial. Se realizó laminectomía descompresiva y artrodesis de L5-S1, el estudio histopatológico reportó material amorfo con reacción de células gigantes multinucleadas de tipo a cuerpo extraño

Tophaceous deposits in lumbar spine is considered a rare condition. We report the case of a 44-year-old patient with low back pain and radiculopathy. Radiographs revealed lytic spondylolisthesis in L5. Magnetic resonance imaging showed hypointense signal on T1 and a heterogeneous signal on T2 located in the L4-L5 interspinous space and in the left facet joint that invades left neuroforamen. The left knee ultrasound showed «double contour» of the medial femoral condyle. Decompressive laminectomy with arthrodesis at the level of L5-S1 was performed. The histological examination revealed amorphous material with a foreign body giant cell reaction

Tophaceous Gout in the Lumbar Spine Causing Radiculopathy. / Gota tofácea en la columna lumbar causando radiculopatía.

Tophaceous deposits in lumbar spine is considered a rare condition. We report the case of a 44-year-old patient with low back pain and radiculopathy. Radiographs revealed lytic spondylolisthesis in L5. Magnetic resonance imaging showed hypointense signal on T1 and a heterogeneous signal on T2 located in the L4-L5 interspinous space and in the left facet joint that invades left neuroforamen. The left knee ultrasound showed «double contour¼ of the medial femoral condyle. Decompressive laminectomy with arthrodesis at the level of L5-S1 was performed. The histological examination revealed amorphous material with a foreign body giant cell reaction.

Vitamin D receptor gene polymorphisms and susceptibility for primary osteoarthritis of the knee in a Latin American population.

BACKGROUND: Primary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development. The vitamin D receptor has a role in skeletal metabolism that suggests a relationship with OA. The aim of this study was to analyze the association of Vitamin D receptor gene (VDR) polymorphisms in Mexican Mestizo patients. METHODS: A case-control study was conducted in which 107 cases with primary OA of the knee and 114 controls were included. Cases were patients > 40 years of age with a Body mass index (BMI) of ≤27 and a radiological score for OA of the knee of ≥2. Controls were subjects > 40 years of age with a radiological score of < 2. VDR polymorphisms rs1544410, rs7975232, and rs731236 were analyzed by means of restriction endonucleases, and logistic regression was developed to evaluate risk magnitude. RESULTS: A significantly increased risk was found of nearly two-fold for the allele T and TT genotypes of rs731236, independently of other well recognized risk factors. CONCLUSIONS: The rs731236 polymorphism is associated with the risk of primary OA of the knee in Mexican Mestizo population.

Non-Criteria or Seronegative Obstetric Antiphospholipid Syndrome?

BACKGROUND: Obstetric antiphospholipid syndrome (Obs-APS) is one of the most commonly identified causes of recurrent pregnancy loss and its accurate diagnosis is a requirement for optimal treatment. Some patients do not fulfill the revised Sapporo classification criteria, the original APS classification criteria, and are considered to be non-criteria Obs-APS. In these patients with non-criteria, there is controversy about their inclusion within the spectrum of APS and eventually their treatment as having Obs-APS. A subset of patients may also have clinical characteristics of Obs-APS even though lupus anticoagulant (LA), anticardiolipin antibodies, and anti-ß2-glycoprotein I (aß2GPI) antibodies are consistently negative. These patients are recognized as seronegative Obs-APS. We reviewed evidence of non-criteria Obs-APS and discuss a case of a woman with a diagnosis of active systemic lupus erythematosus (SLE) and non-criteria Obs-APS with four consecutive pregnancy losses. After an accurate diagnosis the patient received prenatal counseling and benefited from the optimal treatment of Obs-APS that led to a successful pregnancy. The applicability of this successful experience about outcomes in women with non-criteria, or seronegative, Obs-APS is also evaluated.

D14 repeat polymorphism of the asporin gene is associated with primary osteoarthritis of the knee in a Mexican Mestizo population.

BACKGROUND: Asporin is a novel extracellular matrix protein (ECM) with an important role in the development of osteoarthritis (OA), because it has been reported that functional polymorphisms in the aspartic acid repeat (D) of the asporin gene (ASPN) are associated with susceptibility to OA. AIM: This study was planned to investigate the association of the ASPN polymorphism with primary OA of the knee in a Mexican population, including several countryside regions. METHODS: We conducted a case-control study in which 93 cases with primary OA of the knee and 118 controls were included. Cases included patients > 40 years of age, with a body mass index (BMI) ≤ 27 and a radiologic score for OA of the knee of ≥ 2. Controls were subjects > 40 years of age with a radiologic score of < 2. The D repeat polymorphism was genotyped and logistic regression was developed to evaluate risk magnitude. RESULTS: The D14 allele was more common in our cases and was associated with an increased risk for developing OA, while the frequencies of the remaining alleles did not exhibit differences. CONCLUSION: Our data suggest that the D14 allele of the ASPN polymorphism could exert an influence on primary OA of the knee etiology in a Mexican Mestizo population.

Determinación de concentraciones séricas de 25(OH) D en niños con lupus eritematoso sistémico y artritis idiopática juvenil / Determination of 25(OH)D serum levels in children with systemic lupus erythematosus and juvenile idiopathic arthritis

Resumen:Introducción: Se sabe que la vitamina D (25(OH) D) tiene un efecto directo sobre la salud del hueso y músculo. Se ha relacionado también con enfermedades reumatológicas de origen autoinmune. Los estudios en niños con este tipo de enfermedades son escasos, sobre todo en artritis idiopática juvenil. El objetivo de este trabajo fue determinar las concentraciones de 25(OH) D en pacientes con lupus eritematoso sistémico (LES) y artritis idiopática juvenil (AIJ), y compararlas con las concentraciones en individuos sanos.Métodos: Se determinaron las concentraciones de 25(OH) D por medio de espectrometría de masas con cromatografía liquida por tándem (ID-LC-MS/MS), las concentraciones de la hormona paratiroidea por análisis inmunorradiométrico (IRMA), y las concentraciones de calcio, fósforo y fosfatasa alcalina por métodos colorimétricos en 37 pacientes con LES, 37 pacientes con AIJ y 79 controles sanos.Resultados: Las concentraciones séricas de 25(OH) D fueron de 18.9 ±7.92 ng/ml en LES, 21.97 ± 5.55 ng/ml en AIJ y 23.6 ± 3.07 ng/ml en controles sanos. Hubo una diferencia significativa al comparar las concentraciones de 25 (OH) D entre los pacientes con LES y los controles sanos (p <0.05). El 29.7% de pacientes con LES, el 35.1% con AIJ y el 31.6% de sujetos sanos cursaron con niveles deficientes de vitamina D en este estudio.Conclusiones: Una tercera parte de los niños estudiados en los tres grupos mostraron deficiencias de vitamina D. La más severa fue en los niños con LES.

Abstract:Background: It is well recognized that vitamin D has a direct effect in bone and muscle and has been associated as well with some rheumatologic diseases. Reports in children are scarce. The aim of this study was to determine the concentration level of 25(OH)D in a group of patients with systemic lupus erythematosus (SLE) and juvenile idiopathic arthritis (JIA) and compare them with healthy controls.Methods: Vitamin D (25(OH)D) was measured with isotope-dilution liquid chromatography-tandem mass spectrometry (ID-LC-MS/MS), PTH with immunoradiometric assay (IRMA), calcium, phosphorus and alkaline phosphatase by colorimetric assay in 37 patients with SLE, 37 patients with JIA and 79 healthy controls.Results: Mean 25(OH)D concentration levels were as follows: SLE 18.9 ± 7.92 ng/ml, JIA 21.97 ± 5.55 ng/ml and 23.6 ± 3.07 ng/ml in healthy controls. There was a significant difference between SLE patients vs. healthy controls (p <0.05); 29.7% of SLE patients, 35.1% of JIA patients and 31.6% of healthy controls had deficient levels of vitamin D.Conclusions: One third of the total sample of children in this study had deficient levels of vitamin D. Patients with SLE presented a significant difference compared with healthy controls.

Transculturización y validación al español del Cuestionario específico de artrosis de miembros inferiores y calidad de vida AMICAL: Arthrose des Membres Inférieurs et Qualité de vie AMIQUAL (AU) / Transculturalization and validation of a Spanish translation of the specific lower limb osteoarthritis and quality of life questionnaire AMICAL: Arthrose des Membres Inférieurs et Qualité de vie AMIQUAL

Introducción: El impacto en la calidad de vida (CV) que condiciona la osteoartrosis (OA) ha sido evaluado con cuestionarios genéricos debido a que hay escasos instrumentos desarrollados específicamente para esta entidad y ninguno ha sido validado al español. El objetivo del estudio fue validar y transculturizar al español el cuestionario francés AMIQUAL para medir CV en pacientes con OA de caderas y rodilla. Métodos: Estudio transversal, analítico; el proceso de validación se llevó a cabo en las siguientes fases: traducción del francés al español, las versiones traducidas se analizaron con panel de expertos multidisciplinario, aplicación de prueba piloto en población con OA para valoración de equivalencia gramatical y de contenido, retrotraducción y análisis. Se validó en pacientes con OA de cadera y rodilla, junto con SF-36, así como índices de Womac y Lequesne. La reproducibilidad se evaluó aplicando el cuestionario a las 72 h. El análisis clinimétrico se calculó con SPSS 16.0. Resultados: Se incluyó a 100 pacientes para cada tipo de OA (cadera y rodilla), grado radiológico ii-iii, para estimar homogeneidad, y 65 pacientes para cada tipo de OA, para evaluar consistencia; la edad promedio fue de 56,34 ± 13 y 60,1 ± 9,2 años, respectivamente; predominó el género femenino, el 67% y el 79,8%, respectivamente. El de Cronbach fue de 0,946 y 0,999 para OA de cadera y de rodilla, respectivamente; los coeficientes de correlación intraclase fueron 0,979 y 0,998, respectivamente. Las correlaciones con todos los instrumentos fueron significativas (p < 0,05), excepto con el índice de Lequesne (r -0,383). Conclusiones: La versión en español del cuestionario AMICAL conserva las propiedades clinimétricas, la homogeneidad y la consistencia, y correlaciona con otros instrumentos, por lo que es confiable, autoaplicable e incluye dominios más allá de la capacidad funcional, que interpretan mejor la CV

Introduction: Several generic questionnaires have been used to measure quality of life in patients with Osteoarthritis (OA) since few instruments have been developed specifically for OA and none was developed for Spanish speaking patients. The purpose of the study was to validate and adapt to Spanish the French questionnaire AMICAL to measure quality of life in patients with hip and knee OA. Methods: Transversal, analytical study. The validation process was performed in phases: translation from French to Spanish, translated version analysis by a multidisciplinary expert team, application of a pilot test to patients to evaluate grammatical and content equivalence, blind back translation, and analysis. The questionnaire was applied to hip and knee OA patients, together with the SF-36 questionnaire, as well as the WOMAC and the Lequesne indexes. The reproducibility was evaluated applying the questionnaire after 72 hours. The clinimetric analysis was calculated with SPSS 16.0. Results: One hundred patients with hip OA and 100 patients with knee OA, radiological stages ii-iii, were included to evaluate homogeneity. Sixty-five patients with hip OA and 65 patients with knee OA were included to evaluate consistency. The final sample included 100 hip and 100 patients knee OA patients to estimate homogeneities and 65 patients were evaluated to estimate consistency. Mean (SD) age of patients with hip and knee OA, was 56.34 ± 13 and 60.1 ± 9.2, respectively. Sixty seven percent and 79.8% were female, respectively. Cronbach’ alpha for AMICAL was 0.946 and 0.999, for hip OA and knee OA, respectively; and test-retest reliability using the intraclass correlation coefficients was 0.979 and 0.998, respectively. There was also a significant correlation with all the instruments (P<.05), except with the Lequesne index (r-0.383). Conclusions: The Spanish version of AMICAL questionnaire keep the clinimetric properties, homogeneity, and consistency, and has a good correlation with other instruments. Consequently, it is reliable, selfapplicable, and includes domains beyond the functional capacity that better evaluate the quality of life (AU)

Transculturalization and validation of a Spanish translation of the specific lower limb osteoarthritis and quality of life questionnaire AMICAL: Arthrose des Membres Inférieurs et Qualité de vie AMIQUAL.

INTRODUCTION: Several generic questionnaires have been used to measure quality of life in patients with Osteoarthritis (OA) since few instruments have been developed specifically for OA and none was developed for Spanish speaking patients. The purpose of the study was to validate and adapt to Spanish the French questionnaire AMICAL to measure quality of life in patients with hip and knee OA. METHODS: Transversal, analytical study. The validation process was performed in phases: translation from French to Spanish, translated version analysis by a multidisciplinary expert team, application of a pilot test to patients to evaluate grammatical and content equivalence, blind back translation, and analysis. The questionnaire was applied to hip and knee OA patients, together with the SF-36 questionnaire, as well as the WOMAC and the Lequesne indexes. The reproducibility was evaluated applying the questionnaire after 72hours. The clinimetric analysis was calculated with SPSS 16.0. RESULTS: One hundred patients with hip OA and 100 patients with knee OA, radiological stages ii-iii, were included to evaluate homogeneity. Sixty-five patients with hip OA and 65 patients with knee OA were included to evaluate consistency. The final sample included 100 hip and 100 patients knee OA patients to estimate homogeneities and 65 patients were evaluated to estimate consistency. Mean (SD) age of patients with hip and knee OA, was 56.34 ± 13 and 60.1 ± 9.2, respectively. Sixty seven percent and 79.8% were female, respectively. Cronbach' alpha for AMICAL was 0.946 and 0.999, for hip OA and knee OA, respectively; and test-retest reliability using the intraclass correlation coefficients was 0.979 and 0.998, respectively. There was also a significant correlation with all the instruments (P<.05), except with the Lequesne index (r-0.383). CONCLUSIONS: The Spanish version of AMICAL questionnaire keep the clinimetric properties, homogeneity, and consistency, and has a good correlation with other instruments. Consequently, it is reliable, self-applicable, and includes domains beyond the functional capacity that better evaluate the quality of life.

Displasia progresiva seudorreumatoide. Desorden genético raro que simula artritis idiopática juvenil / Pseudorheumatoid dysplasia. A rare genetic disorder simulating juvenile idiopathic arthritis

Adolescente con displasia progresiva seudorreumatoide, desorden autosómico recesivo que puede ser diagnosticado inicialmente como artritis idiopática juvenil(AU)

We present the case of a teenage patient with progressive pseudorheumatoid dysplasia, an autosomal recessive disorder that may be initially misdiagnosed as juvenile idiopathic arthritis(AU)

Pseudorheumatoid dysplasia. A rare genetic disorder simulating juvenile idiopathic arthritis.

We present the case of a teenage patient with progressive pseudorheumatoid dysplasia, an autosomal recessive disorder that may be initially misdiagnosed as juvenile idiopathic arthritis.

Analysis of estrogen receptor alpha gene haplotype in Mexican mestizo patients with primary osteoarthritis of the knee.

The aim of this work was to test the association between estrogen receptor α gene (ERα) polymorphism and primary osteoarthritis (OA) of the knee in Mexican mestizo patients. A case-control study was conducted. Cases were patients >40 years of age, with a body mass index (BMI) ≤ 27 and radiologic score for OA of the knee of ≥2 according to Kellgren-Lawrence scale, and controls were subjects >40 years age with a radiologic score <2. Two restriction fragment length polymorphisms, PvuII (T/C; rs2234693), and XbaI (A/G; rs9340799), of the ERα were analyzed. Allelic haplotypes were constructed and non-conditional logistic regression was developed to evaluate risk magnitude through odds ratios (ORs) and 95% Confidence intervals (95% CI). Three different allelic haplotypes were identified: TA; CG, and CA. Unadjusted analysis of the haplotypes did not show significant associations; nonetheless, when data were adjusted for gender, age, and BMI, a significant decrease risk was observed for CG haplotype (OR [95% CI]) = 0.5 (0.3-0.9)] (P = 0.04). These results suggest that ERα gene CG haplotype could be associated with a reduced risk of primary knee OA in Mexican mestizo population.

[Arthritis: an unusual and anticipatory clinical presentation of pediatric acute lymphoblastic leukemia. A case report]. / Artritis: presentación clínica infrecuente y anticipatoriade la leucemia aguda linfoblástica en niños. Informe de un caso.

BACKGROUND: Acute lymphoblastic leukemia initially shows osteoarticular manifestations. However, it is rare that it shows juvenile idiopathic arthritis (JIA) symptoms. CLINICAL CASE: A child with acute lymphoblastic leukemia initially misdiagnosed with malignant neoplasia and septic arthritis, and later on with juvenile idiopathic arthritis. The child had persistent articular pain and swelling despite treatment. Six months later, a full blood count revealed leukopenia and neutropenia with lymphocytosis. A bone marrow aspirate confirmed pre-B acute lymphoblastic leukemia with hypodyploidia. CONCLUSION: This case initially showed typical signs of arthritis, and a diagnosis of acute lymphoblastic leukemia was ruled out, since the those clinical features and hematologic alterations characterizing this hematologic neoplasia.

A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population.

Primary osteoarthritis (OA) is a multifactorial disease with several genetics factors involved. The COL2A1 gene is of particular interest because it encodes for the most abundant protein in articular cartilage. The aim was to evaluate the association of COL2A1 gene polymorphism with OA of the knee in Mexican Mestizo patients. A case-control study was conducted; cases comprised patients with a radiologic scoring > or = 2 and controls with a radiologic scoring <2. DNA was extracted from a peripheral blood sample, the polymorphic site of the COL2A1 gene was submitted to polymerase chain reaction (PCR), and the products were digested using PvuII restriction enzyme. For statistical analysis, a non-conditional logistic regression was developed. There were no associations among alleles in the overall sample, nevertheless, a significant association was found with p (Pp/pp) allele and OA of the knee grade 4 [odds ratio (OR), 95% confidence interval (CI 95%) 4.1 (1.2-14.6)] adjusted by gender, age, and body mass index (BMI). These results suggest an association of a COL2A1 gene polymorphism with advanced stages of OA of the knee in Mexican Mestizo population.

Proxy-reported health-related quality of life of patients with juvenile idiopathic arthritis: the Pediatric Rheumatology International Trials Organization multinational quality of life cohort study.

OBJECTIVE: To investigate the proxy-reported health-related quality of life (HRQOL) and its determinants in patients with juvenile idiopathic arthritis (JIA). METHODS: In this multinational, multicenter, cross-sectional study, HRQOL of patients with JIA was assessed through the Child Health Questionnaire (CHQ) and was compared with that of healthy children of similar age from the same geographic area. Potential determinants of HRQOL included demographic data, physician's and parent's global assessments, measures of joint inflammation, Childhood Health Assessment Questionnaire (CHAQ), and erythrocyte sedimentation rate. RESULTS: A total of 6,639 participants (3,324 with JIA and 3,315 healthy) were enrolled from 32 countries. The mean +/- SD physical and psychosocial summary scores of the CHQ were significantly lower in patients with JIA than in healthy children (physical: 44.5 +/- 10.6 versus 54.6 +/- 4.0, P < 0.0001; psychosocial: 47.6 +/- 8.7 versus 51.9 +/- 7.5, P < 0.0001), with the physical well-being domain being most impaired. Patients with persistent oligoarthritis had better HRQOL compared with other subtypes, whereas HRQOL was similar across patients with systemic arthritis, polyarthritis, and extended oligoarthritis. A CHAQ score >1 and a pain intensity rating >3.4 cm on a 10-cm visual analog scale were the strongest determinants of poorer HRQOL in the physical and psychosocial domains, respectively. CONCLUSION: We found that patients with JIA have a significant impairment of their HRQOL compared with healthy peers, particularly in the physical domain. Physical well-being was mostly affected by the level of functional impairment, whereas the intensity of pain had the greatest influence on psychosocial health.

Health-related quality of life in juvenile-onset systemic lupus erythematosus and its relationship to disease activity and damage.

OBJECTIVE: To assess the health-related quality of life (HRQL) of patients with juvenile-onset systemic lupus erythematosus (JSLE) and its relationship with disease activity and accumulated damage. METHODS: In this cross-sectional study, HRQL was assessed using the Child Health Questionnaire (CHQ), disease activity using the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and accumulated damage using the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). RESULTS: A total of 297 patients were included. The mean +/- SD physical and psychosocial summary scores of the CHQ were 40.2 +/- 15.0 and 44.8 +/- 10.7, respectively. The most impaired CHQ subscales were global health, general health perceptions, and parent impact-emotional. The SLEDAI score was significantly correlated with both the physical summary score (r = -0.29, P < 0.0001) and psychosocial summary score (r = -0.25, P < 0.0001), whereas the SDI score was significantly correlated only with the physical summary score (r = -0.23, P = 0.0001). CONCLUSION: We found that patients with JSLE have significant impairment of their HRQL, particularly in the physical domain. HRQL may be affected by both disease activity and accumulated damage, particularly in the renal, central nervous, and musculoskeletal systems.