Encefalitis autoinmune seronegativa asociada a síndrome de Sjögren primario / Autoimmune seronegative encephalitis associated to primary Sjögren's disease

La encefalitis autoinmune es un trastorno inmunomediado que compromete distintos territorios del parénquima cerebral, involucrando frecuentemente la materia gris profunda o la corteza, con o sin compromiso de la materia blanca, meninges o médula espinal. Se asocia frecuentemente con enfermedades autoinmunes o paraneoplásicas, y constituye un reto diagnóstico. Reportamos el caso de una mujer de 55 años con antecedente de síndrome de Sjögren que consultó a Emergencias por cefalea y confusión. El líquido cefalorraquídeo (LCR) presentaba leucocitosis con neutrofilia. En la resonancia magnética nuclear (RMN) cerebral se evidenciaron múltiples imágenes de comportamiento restrictivo, de señal hiperintensa en T2 y FLAIR, a predominio córtico-subcortical a nivel occipital bilateral, hemisferio cerebeloso derecho y parietal derecho. Se descartaron infecciones y neoplasias. El panel de anticuerpos para encefalitis autoinmune aquaporina-4 y anti-MOG en LCR fue negativo. Recibió metilprednisolona endovenosa con mejoría progresiva de los síntomas.

Autoimmune encephalitis is an immune-mediated disorder that affects different areas of the brain parenchyma, often involving deep gray matter or the cortex, with or without involvement of white matter, meninges, or spinal cord. It is frequently associated with autoimmune or paraneoplastic diseases and is a diagnostic challenge. We report the case of a 55-year-old woman with history of Sjögren's syndrome who presented to the emergency department with headache and episodes of confusion. Cerebrospinal fluid (CSF) analysis showed leukocytosis with neutrophilia. Brain MRI revealed multiple restricted diffusion lesions with hyperintense signal on T2 and FLAIR sequences, predominantly in the bilateral occipital region, right cerebellar hemisphere, and right parietal region. Infections and neoplasms were ruled out. The panel of antibodies for autoimmune encephalitis, including Aquaporin-4 and anti-MOG in CSF, was negative. She received intravenous methylprednisolone, leading to symptom improvement.

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. CASES PRESENTATION: We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin ichtyosis (HI), epidermolytic ichtyosis (EI) and autosomal recessive ichtyosis with hypotrichosis (ARIH). Target next generation sequencing (NGS) analysis identified three novel mutations of the ABCA12, KRT1 and ST14 genes, respectively associated to such congenital ichtyoses, not reported in literature. Genomic investigation allowed to provide the more appropriate management to each patient, based on an individualized approach. CONCLUSIONS: Our report highlights the wide genetic heterogeneity and phenotypic variability of CI. It expands the current knowledge on such diseases, widening their genomic database, and providing a better clinical characterization. Furthermore, it underlines the clinical relevance of NGS, which is essential to address the management of patients. Indeed, it may guide towards the most adequate approach, preventing clinical obstinacy for subjects with more severe forms and unfavorable outcomes (together with the support, in such situations, of bioethicists included within the multidisciplinary care team), as well as reassuring families in those with milder course and favorable evolution.

[Anatomoclinical results of temporal artery biopsies at a university hospital in Argentina] / Resultados anatomoclínicos de las biopsias de arteria temporal realizadas en un hospital universitario de Argentina.

Introduction: Giant cell arteritis (GCA) is the most frequent systemic vasculitis in patients older than 50 years. The diagnosis is based on the clinical history, laboratory findings and imaging studies associated with a temporal artery biopsy (TAB). However, the biopsy result could be inconclusive in up to 40% of the cases. The aim of this study was to review the current management of the patients with clinical suspect of GCA in the university hospital CEMIC in Buenos Aires, Argentina, and correlate the disease behavior with the TAB result. Methods: Retrospective study that reviewed consecutive patients to whom a TAB was made in an 11-year period (2005-2016). Clinical and pathology reports were reviewed. Descriptive statistics were performed. Quantitative variables were described as mean (S.D.) or median [range or inter- quartile range (IQR)] and qualitative variables as number (%). To compare the characteristics of the groups, bivariate analyzes were performed using contingency tables and logistic regression models if necessary. Results: Sixty three patients were included, 68% women. The mean age was 72 years old (SD 8.4). Seventeen biopsies (26.9%) were positive for GCA. The average post fixation length was 1.68 cm (SD 1.2). Patients were divided into 3 groups taking into account the result of the TAB, the ACR criteria and the imaging studies. We could not identify predictors of biopsy positivity. The group of patients with GCA and negative TAB showed a higher percentage of patients with abnormal temporal artery at physical examination. Conclusion: The TAB positive percentage (26.9%) was similar to the reported in other series as well as the post fixation length. We could not identify predictors of biopsy positivity.

Introducción: La arteritis de células gigantes (ACG) es la vasculitis sistémica primaria más frecuente en pacientes mayores de 50 años. El diagnóstico de ACG se basa en la evaluación clínica, de laboratorio y estudios por imágenes, asociados a una biopsia. Sin embargo, el resultado de la biopsia puede no ser concluyente en más del 40% de los casos. El objetivo de este estudio fue revisar el manejo de los pacientes con sospecha de ACG en el hospital universitario CEMIC en Buenos Aires, Argentina, y correlacionar el comportamiento de la enfermedad con el resultado de la biopsia de arteria temporal (BAT). Métodos: Estudio retrospectivo que analizó pacientes consecutivos a los cuales se les realizó BAT en un período de 11 años (2005-2016). La información recolectada se obtuvo a partir de las historias clínicas y de los informes de anatomía patológica. Se realizó estadística descriptiva. Para las variables cuantitativas se estimaron medias y sus respectivos desvíos estándar o medianas y percentil 25-75, y para las variables cualitativas, la cantidad y el porcentaje. Para comparar las características de los grupos se realizaron análisis bivariados mediante tablas de contingencia y modelos de regresión logística de ser necesario. Resultados: Sesenta y tres pacientes fueron incluidos, 68% mujeres, con una edad media de 72 años (DS 8,4). Diecisiete biopsias (26,9%) fueron positivas. La longitud media posfijación fue de 1,68 cm (DS 1,2). La población se dividió en 3 grupos según la BAT, los criterios ACR y los estudios por imágenes. No se identificaron factores predictores de positividad de la BAT. El grupo con ACG y BAT negativa presentó mayor porcentaje de pacientes con arteria temporal anormal al examen físico. Conclusión: El porcentaje de positividad de las biopsias (26,9%) fue similar al reportado por otras series, así como la longitud de la biopsia luego de la fijación (1,68 cm). No identificamos factores predictores de positividad de la BAT.

Suboptimal Immunization Coverage among Canadian Rheumatology Patients in Routine Clinical Care.

OBJECTIVE: To assess vaccination coverage and predictors of vaccination among a Canadian population of rheumatology patients in routine clinical care. METHODS: In this cross-sectional study, consecutive adult patients presenting to a tertiary rheumatology clinic at the McGill University Health Center between May and September 2015 were asked to fill a survey on vaccination. Patients self-identified as having rheumatoid arthritis (RA), systemic autoimmune rheumatic diseases (SARD), spondyloarthropathies (SpA), or other diseases (OD). Multivariate logistical regression analyses were performed to evaluate patient and physician factors associated with various vaccinations [for influenza, pneumococcus, and hepatitis B virus (HBV)]. Published Quebec general population influenza and pneumococcal vaccination rates in those aged ≥ 65 years were used as comparative baseline rates. RESULTS: Three hundred fifty-two patients were included in the analysis (RA: 136, SARD: 113, SpA: 47, OD: 56). Vaccination rates were reported as follows: (1) influenza: RA 48.5%, SARD 42.0%, SpA 31.9%, OD 88.9%, Quebec general population 58.5%; (2) pneumococcal: RA 42.0%, SARD 37.8%, SpA 29.7%, OD 33.3%, Quebec general population 53.2%; (3) HBV: RA 33.6%, SARD 55.6%, SpA 73.5%, OD 36.8%; and (4) herpes zoster: RA 5.6%, SARD 28.6%, SpA 25.0%, OD 16.7%. Physician recommendation was the strongest independent predictor of vaccination across all vaccine types (influenza: OR 8.56, 95% CI 2.80-26.2, p < 0.001; pneumococcal: OR 314, 95% CI 73.0-1353, p < 0.001; HBV: OR 12.8, 95% CI 5.27-31.1, p < 0.001). Disease group, disease duration, comorbidities, treatment type, and being followed by a primary care physician were not significantly associated with vaccination. CONCLUSION: There is suboptimal immunization coverage among ambulatory rheumatology patients. An important role for patient and physician education is highlighted in our study, especially because physician recommendation of vaccination was strongly predictive of vaccine uptake.