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1.
J Neuroophthalmol ; 44(1): 87-91, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-37342872

RESUMEN

BACKGROUND: Giant cell arteritis (GCA) is a large vessel vasculitis associated with a risk of permanent ophthalmologic complications. Data about diplopia prognosis in GCA are scarce. This study was designed to better characterize diplopia in newly diagnosed GCA patients. METHODS: All consecutive patients diagnosed with GCA from January 2015 to April 2021 in a French tertiary ophthalmologic center were retrospectively reviewed. GCA diagnosis relied on a positive temporal artery biopsy or high-definition MRI. RESULTS: Among 111 patients diagnosed with GCA, 30 patients (27%) had diplopia. Characteristics of patients with diplopia were similar to other GCA patients. Diplopia resolved spontaneously in 6 patients (20%). Diplopia was attributed to cranial nerve palsy in 21/24 patients (88%), especially third (46%) and sixth cranial nerve (42%). Ocular ischemic lesions occurred in 11 of the 30 patients with diplopia (37%); 2 patients developed vision loss after initiation of corticosteroids. In the remaining 13 patients, diplopia resolved after treatment onset in 12 patients (92%) with a median delay of 10 days. Patients treated intravenously tended to have a quicker improvement than those treated orally, but with a similar resolution rate of diplopia at 1 month. Two patients had relapse of diplopia at 4 and 6 weeks after an initial treatment course of 24 and 18 months, respectively. CONCLUSIONS: Diplopia is a rare feature at GCA diagnosis, but should raise clinician suspicion for GCA when associated with cephalic symptoms and prompt the initiation of corticosteroids to prevent ocular ischemic complications.


Asunto(s)
Arteritis de Células Gigantes , Humanos , Arteritis de Células Gigantes/complicaciones , Arteritis de Células Gigantes/diagnóstico , Diplopía/diagnóstico , Diplopía/etiología , Estudios Retrospectivos , Pronóstico , Isquemia , Corticoesteroides
2.
Eur Radiol ; 30(4): 1866-1875, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31811430

RESUMEN

OBJECTIVES: To compare the diagnostic accuracy of 3D versus 2D contrast-enhanced vessel-wall (CE-VW) MRI of extracranial and intracranial arteries in the diagnosis of GCA. METHODS: This prospective two-center study was approved by a national research ethics board and enrolled participants from December 2014 to October 2017. A protocol including both a 2D and a 3D CE-VW MRI at 3 T was performed in all patients. Two neuroradiologists, blinded to clinical data, individually analyzed separately and in random order 2D and 3D sequences in the axial plane only or with reformatting. The primary judgment criterion was the presence of GCA-related inflammatory changes of extracranial arteries. Secondary judgment criteria included inflammatory changes of intracranial arteries and the presence of artifacts. A McNemar's test was used to compare 2D to 3D CE-VW MRIs. RESULTS: Seventy-nine participants were included in the study (42 men and 37 women, mean age 75 (± 9.5 years)). Fifty-one had a final diagnosis of GCA. Reformatted 3D CE-VW was significantly more sensitive than axial-only 3D CE-VW or 2D CE-VW when showing inflammatory change of extracranial arteries: 41/51(80%) versus 37/51 (73%) (p = 0.046) and 35/50 (70%) (p = 0.03). Reformatted 3D CE-VW was significantly more specific than 2D CE-VW: 27/27 (100%) versus 22/26 (85%) (p = 0.04). 3D CE-VW showed higher sensitivity than 2D CE-VW when detecting inflammatory changes of intracranial arteries: 10/51(20%) versus 4/50(8%), p = 0.01. Interobserver agreement was excellent for both 2D and 3D CE-VW MRI: κ = 0.84 and 0.82 respectively. CONCLUSIONS: 3D CE-VW MRI supported more accurate diagnoses of GCA than 2D CE-VW. KEY POINTS: • 3D contrast-enhanced vessel-wall magnetic resonance imaging is a high accuracy, non-invasive diagnostic tool used to diagnose giant cell arteritis. • 3D contrast-enhanced vessel-wall imaging is feasible for clinicians to complete within a relatively short time, allowing immediate assessment of extra and intracranial arteries. • 3D contrast-enhanced vessel-wall magnetic resonance imaging might be considered a diagnostic tool when intracranial manifestation of GCA is suspected.


Asunto(s)
Arteritis de Células Gigantes/diagnóstico por imagen , Imagenología Tridimensional/métodos , Imagen por Resonancia Magnética/métodos , Arterias Temporales/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Medios de Contraste , Femenino , Arteritis de Células Gigantes/patología , Humanos , Masculino , Persona de Mediana Edad , Compuestos Organometálicos , Estudios Prospectivos , Sensibilidad y Especificidad , Arterias Temporales/patología
3.
Eur Radiol ; 28(2): 478-486, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28884296

RESUMEN

OBJECTIVES: To assess the efficacy of bisphosphonate therapy on bone pain in patients with osteoid osteoma (OO) (main objective), and to describe bisphosphonate-induced changes in nidus mineralisation and regional bone-marrow oedema (BMO). METHODS: A prospective, observational study was conducted from 2011 to 2014. Patients with risk factors for complications of percutaneous or surgical ablation or recurrence after ablation, were offered once monthly intravenous bisphosphonate treatment until significant pain alleviation was achieved. RESULTS: We included 23 patients. The first two patients received pamidronate and the next 21 zoledronic acid (mean, 2.95 infusions per patient). Bisphosphonate therapy was successful in 19 patients (83%), whose mean pain visual analogue scale score decreased by 76.7%; this pain-relieving effect persisted in 17 patients (74%) with a mean follow-up time of 36 months. Computed tomography (CT) demonstrated a mean nidus density increase of 177.7% (p = 0.001). By magnetic resonance imaging (MRI), mean decreases were 38.4% for BMO surface area and 30.3% for signal intensity (p = 0.001 and p = 0.000, respectively). CONCLUSIONS: In 17/23 patients with painful OO managed conservatively with bisphosphonates, long-term final success was achieved. Bisphosphonates may accelerate the spontaneous healing of OO. KEY POINTS: • 19/23 patients with OO managed with bisphosphonates experienced significant pain relief • Pain relief was sustained in 17/23 patients, mean follow-up of 36 months • CT demonstrated a significant increase in nidus mineralisation • MRI demonstrated a significant decrease in bone marrow oedema • Bisphosphonate therapy may accelerate the spontaneous healing of OO.


Asunto(s)
Neoplasias Óseas/tratamiento farmacológico , Difosfonatos/uso terapéutico , Imagen por Resonancia Magnética/métodos , Dolor Musculoesquelético/diagnóstico , Osteoma Osteoide/tratamiento farmacológico , Tomografía Computarizada por Rayos X/métodos , Adolescente , Adulto , Conservadores de la Densidad Ósea/uso terapéutico , Neoplasias Óseas/complicaciones , Neoplasias Óseas/patología , Neoplasias Óseas/cirugía , Niño , Femenino , Humanos , Masculino , Dolor Musculoesquelético/tratamiento farmacológico , Dolor Musculoesquelético/etiología , Osteoma Osteoide/complicaciones , Osteoma Osteoide/patología , Estudios Prospectivos , Resultado del Tratamiento , Adulto Joven
4.
Ann Rheum Dis ; 75(7): 1380-5, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26275432

RESUMEN

OBJECTIVE: Spondyloarthritis (SpA) is a chronic inflammatory disorder with high heritability but with complex genetics. Apart from HLA-B27, most of the underlying genetic components remain to be identified. We conducted a whole-genome high-density non-parametric linkage analysis to identify new genetic factors of susceptibility to SpA. METHODS: 914 subjects including 462 with SpA from 143 multiplex families were genotyped using Affymetrix 250K microarrays. After quality control, 189 368 single nucleotide polymorphisms (SNPs) were kept for further analyses. Both non-parametric and parametric linkage analyses were performed using Merlin software. Association was tested with Unphased. RESULTS: Non-parametric linkage analysis identified two regions significantly linked to SpA: the major histocompatibility complex (LODmax=24.77) and a new 13q13 locus (LODmax=5.03). Additionally, eight loci achieved suggestive LOD scores, including the previously identified SPA2 locus at 9q33 (LODmax=3.51). Parametric analysis supported a codominant model in 13q13 with a maximum heterogeneity LOD, 'HLOD' score of 3.084 (α=0.28). Identification of meiotic recombination events around the 13q13 linkage peak in affected subjects from the 43 best-linked families allowed us to map the disease interval between 38.753 and 40.040 Mb. Family-based association analysis of the SNPs inside this interval in the best-linked families identified a SNP near FREM2 (rs1945502) which reached a p value close to statistical significance (corrected p=0.08). CONCLUSION: We report here for the first time a significant linkage between 13q13 and SpA. Identification of susceptibility factor inside this chromosomal region through targeted sequencing in linked families is underway.


Asunto(s)
Cromosomas Humanos Par 13/genética , Ligamiento Genético , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Espondiloartritis/genética , Adulto , Femenino , Sitios Genéticos , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Persona de Mediana Edad , Linaje
5.
Ann Rheum Dis ; 72(7): 1217-20, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23253926

RESUMEN

OBJECTIVE: To evaluate the safety and effectiveness of tocilizumab and abatacept in systemic sclerosis (SSc)-polyarthritis or SSc-myopathy. METHODS: 20 patients with SSc with refractory polyarthritis and seven with refractory myopathy from the EUSTAR (EULAR Scleroderma Trials and Research) network were included: 15 patients received tocilizumab and 12 patients abatacept. All patients with SSc-myopathy received abatacept. Clinical and biological assessments were made at the start of treatment and at the last infusion. RESULTS: After 5 months, tocilizumab induced a significant improvement in the 28-joint count Disease Activity Score and its components, with 10/15 patients achieving a EULAR good response. Treatment was stopped in two patients because of inefficacy. After 11 months' treatment of patients with abatacept, joint parameters improved significantly, with 6/11 patients fulfilling EULAR good-response criteria. Abatacept did not improve muscle outcome measures in SSc-myopathy. No significant change was seen for skin or lung fibrosis in the different groups. Both treatments were well tolerated. CONCLUSIONS: In this observational study, tocilizumab and abatacept appeared to be safe and effective on joints, in patients with refractory SSc. No trend for any change of fibrotic lesions was seen but this may relate to the exposure time and inclusion criteria. Larger studies with longer follow-up are warranted to further determine the safety and effectiveness of these drugs in SSc.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Antirreumáticos/uso terapéutico , Artritis/tratamiento farmacológico , Inmunoconjugados/uso terapéutico , Enfermedades Musculares/tratamiento farmacológico , Esclerodermia Sistémica/complicaciones , Abatacept , Adulto , Artritis/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Musculares/etiología , Estudios Prospectivos , Resultado del Tratamiento
6.
Diagn Interv Imaging ; 103(2): 103-110, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34663548

RESUMEN

PURPOSE: The purpose of this study was to identify which combination of imaging modalities should be used to obtain the best diagnostic performance for the non-invasive diagnosis of giant cell arteritis (GCA). MATERIALS AND METHODS: This IRB-approved prospective single-center study enrolled participants presenting with a suspected diagnosis of GCA from December 2014 to October 2017. Participants underwent high-resolution 3T magnetic resonance imaging (MRI), temporal and extra-cranial arteries ultrasound and retinal angiography (RA), prior to temporal artery biopsy (TAB). Diagnostic accuracy of each imaging modality alone, then a combination of several imaging modalities, was evaluated. Several algorithms were constructed to test optimal combinations using McNemar test. RESULTS: Forty-five participants (24 women, 21 men) with mean age of 75.4 ± 16 (SD) years (range: 59-94 years) were enrolled; of these 43/45 (96%) had ophthalmological symptoms. Diagnosis of GCA was confirmed in 25/45 (56%) patients. Sensitivity and specificity of MRI, ultrasound and RA alone were 100% (25/25; 95% CI: 86-100) and 86% (19/22; 95% CI: 65-97), 88% (22/25; 95% CI: 69-97) and 84% (16/19; 95% CI: 60-97), 94% (15/16; 95% CI: 70-100) and 74% (14/19; 95% CI: 49-91), respectively. Sensitivity, specificity, positive predictive and negative predictive values ranged from 95 to 100% (95% CI: 77-100), 67 to 100% (95% CI: 38-100), 81 to 100% (95% CI: 61-100) and 91 to 100% (95% CI: 59-100) when combining several imaging tests, respectively. The diagnostic algorithm with the overall best diagnostic performance was the one starting with MRI, followed either by ultrasound or RA, yielding 100% sensitivity (22/22; 95% CI: 85-100%) 100% (15/15; 95% CI: 78-100) and 100% accuracy (37/37; 95% CI: 91-100). CONCLUSION: The use of MRI as the first imaging examination followed by either ultrasound or RA reaches high degrees of performance for the diagnosis of GCA and is recommended in daily practice.


Asunto(s)
Arteritis de Células Gigantes , Anciano , Anciano de 80 o más Años , Algoritmos , Biopsia , Femenino , Arteritis de Células Gigantes/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Sensibilidad y Especificidad , Arterias Temporales/diagnóstico por imagen , Ultrasonografía
7.
Arthritis Rheumatol ; 67(6): 1525-34, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25740711

RESUMEN

OBJECTIVE: Several polymorphisms in ERAP1 are strongly associated with susceptibility to spondyloarthritis (SpA). The combination of rs17482078, rs10050860, and rs30187 results in the construction of 3 major haplotypes that are associated with SpA (the "protective" haplotype T/T/C, the "neutral" haplotype C/C/C, and the "susceptibility" haplotype C/C/T). The aim of the present study was to determine whether such haplotypes might affect endoplasmic reticulum aminopeptidase 1 (ERAP-1) messenger RNA (mRNA) expression, protein level, and/or enzymatic activity in antigen-presenting cells, a type of cell that is potentially relevant to disease pathogenesis. METHODS: Monocyte-derived dendritic cells (DCs) were generated in 2 cohorts (a discovery cohort and a replication cohort) comprising a total of 23 SpA patients and 44 healthy controls. Lymphoblastoid B cell lines were established from individuals who were homozygous for the risk, the neutral, or the protective ERAP1 haplotype, respectively. In those samples, we investigated the relationship between ERAP1 haplotypes and mRNA expression level. We also used Western blot analysis to measure the relative protein expression of ERAP-1 and a fluorogenic assay to measure its enzymatic activity. RESULTS: In monocyte-derived DCs, there was a strong association between ERAP1 haplotypes and the ERAP-1 mRNA expression level, with higher levels in subjects harboring the susceptibility haplotype (P = 0.001 and P = 5.6 × 10(-7) in the discovery and replication cohorts, respectively). In lymphoblastoid B cell lines, we observed a significant correlation between haplotype risk score and ERAP1 transcript or protein level (P = 0.003, ρ = 0.92 for both). Enzymatic activity followed a similar trend both in monocyte-derived DCs and in lymphoblastoid B cell lines. CONCLUSION: These data provide strong evidence that SpA-associated ERAP1 polymorphisms affect the level of gene expression in antigen-presenting cells. How increased production/activity of ERAP-1 may influence susceptibility to SpA remains to be determined.


Asunto(s)
Aminopeptidasas/genética , Células Dendríticas/metabolismo , ARN Mensajero/metabolismo , Espondilitis Anquilosante/genética , Adulto , Aminopeptidasas/metabolismo , Western Blotting , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Perfilación de la Expresión Génica , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Antígenos de Histocompatibilidad Menor , Factores Protectores , Espondiloartropatías/enzimología , Espondiloartropatías/genética , Espondiloartropatías/metabolismo , Espondilitis Anquilosante/enzimología , Espondilitis Anquilosante/metabolismo
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