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1.
Br J Neurosurg ; 37(4): 745-749, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31096793

RESUMEN

A 24-year-old man presented with bilateral Tapia's syndrome (TS) after a traumatic cervical spine injury, manifested by apraxia of the hypoglossal and recurrent laryngeal nerves. The initial presentation was a profound inability to maintain upper respiratory airway patency due to bilateral vocal cord paralysis, accompanied by impairment of swallowing and loss of speech. The diagnosis was based on clinical grounds and verified by endoscopic laryngoscopy. A C7 corpectomy was performed for stabilizing the cervical spine, while conservative treatment with steroids was reserved for the TS. Over the following six months, there was complete resolution of the symptoms.


Asunto(s)
Encefalopatías , Enfermedades del Nervio Hipogloso , Parálisis de los Pliegues Vocales , Masculino , Humanos , Adulto Joven , Adulto , Enfermedades del Nervio Hipogloso/etiología , Enfermedades del Nervio Hipogloso/cirugía , Parálisis de los Pliegues Vocales/etiología , Parálisis de los Pliegues Vocales/cirugía , Nervio Laríngeo Recurrente , Vértebras Cervicales/diagnóstico por imagen , Vértebras Cervicales/cirugía
2.
Rheumatol Int ; 40(10): 1689-1699, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32681396

RESUMEN

Anti-Ro52 autoantibody (autoAb), highly prevalent in Sjogren's syndrome (SjS) and systemic lupus erythematosus (SLE), is also frequent in systemic sclerosis (SSc). Viral agents, such as human cytomegalovirus (HCMV), have been considered as a trigger for SSc and SSc-associated autoAbs. To seek for antigen-specific anti-HCMV associations with anti-Ro52, we assessed the dominant anti-HCMV ab responses in anti-Ro52 antibody (ab)-positive and -negative patients with SSc and compared them with those in SLE and SjS. 116 Anti-HCMV ab(+) sera were analyzed, including 70 from anti-Ro52(+) patients (29 SSc, 23 SLE and 18 SjS) and 46 from anti-Ro52(-) patients (29 with SSc, 9 with SLE and 8 with SjS) as negative controls. Abs against specific HCMV pp130/UL57, pp65/UL83, pp55/UL55, pp52/UL44, p38 and pp28/UL99 antigens were tested by immunoblotting. Anti-Ro52(+) SSc patients reacted more frequently against pp52/UL44 and p38 compared to anti-Ro52(-) [(13/29, 44.8%; 95% CI 26.7-62.9% vs. 1/29, 3.4%; 95% CI 0-10%, p < 0.001, and 9/29, 31.0%; 95% CI 14.2-47.8% vs. 2/29, 6.9%; 95% CI 0-16.1%, p = 0.041, respectively]. No such differences were noted between anti-Ro52(+) and anti-Ro52(-) SLE or SjS patients. Also, antibody titres against HCMV pp65/UL83, pp52/UL44 and p38 antigens were higher in anti-Ro52(+) than anti-Ro52(-) SSc patients (p < 0.01). Ab responses against specific HCMV antigens differ among anti-Ro52 ab-positive and -negative patients with SSc (as well as between SSc and SLE or SjS), but whether these differences are epiphenomenal remains to be seen.


Asunto(s)
Autoanticuerpos/sangre , Esclerodermia Sistémica/inmunología , Biomarcadores/sangre , Estudios de Casos y Controles , Femenino , Humanos , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/inmunología , Masculino , Ribonucleoproteínas/sangre , Ribonucleoproteínas/inmunología , Esclerodermia Sistémica/sangre , Síndrome de Sjögren/sangre , Síndrome de Sjögren/inmunología
3.
Hum Mutat ; 40(4): 361-373, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30556231

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5-10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early diagnosis of ALS is important because it improves their therapeutic efficacy. Current diagnosis is based on clinical assessment and requires approximately 12 months, leading to a significant delay in drug administration. Therefore, new methods are required for the earlier diagnosis of ALS. Screening for pathogenic variants in known ALS-associated genes is already exploited as a diagnostic tool in ALS but cannot be applied for population-based screening. New circulating biomarkers (proteins or small molecules) are needed for initial screening, whereas specific diagnostic methods can be applied to confirm the presence of pathogenic variants in the selected population subgroup. Lipids appear as promising biomarkers for population-based screening and for monitoring disease progression. Genetic analysis can also assist in the prediction of disease progression by analyzing disease-modifying genes, for example, EPHA4 and CHGB. Furthermore, molecular diagnosis will aid the stratification of ALS patients for improved pharmacological approaches. Here, we discuss current and novel diagnostic strategies and how they can be applied to revolutionize the field of ALS molecular diagnosis.


Asunto(s)
Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/etiología , Biomarcadores , Susceptibilidad a Enfermedades , Técnicas de Diagnóstico Molecular , Esclerosis Amiotrófica Lateral/metabolismo , Genes Modificadores , Predisposición Genética a la Enfermedad , Humanos , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/tendencias , Mutación , Proteómica/métodos
4.
Clin Immunol ; 207: 87-96, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31369821

RESUMEN

Anti-human cytomegalovirus (HCMV) antibodies are considered triggers of systemic sclerosis (SSc), but such a hypothesis has been assessed in limited sub-dominant epitopes. Our aim was to systematically assess the potential association of HCMV antibodies targeting most immunodominant and subdominant viral antigens, as this would reveal immunopathogenic associations. Our study included 110 SSc patients, 60 multiple sclerosis (MS) patients, and 51 healthy controls (HC). Anti-HCMV abs were tested by immunoblotting. IgG anti-HCMV was broader in SSc and MS compared to HC. Anti- UL57 and UL55 were more frequent in SSc versus MS forms. Reactivity to multiple viral antigens was more frequent in SSc than MS forms. Anti-viral antibodies levels were higher in specific autoantibody-positive SSc patients compared to seronegative cases. In conclusion, more prevalent and/or stronger antigen-specific HCMV responses are noted in SSc compared to controls, implying a role of these viral responses in SSc development.


Asunto(s)
Anticuerpos Antivirales/sangre , Antígenos Virales/inmunología , Citomegalovirus/inmunología , Epítopos Inmunodominantes/inmunología , Esclerodermia Sistémica/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Especificidad de Anticuerpos , Estudios de Casos y Controles , Femenino , Humanos , Inmunoglobulina G/sangre , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/inmunología
5.
Stereotact Funct Neurosurg ; 97(2): 69-82, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31288240

RESUMEN

BACKGROUND: The efficacy of surgery in the management of patients with longstanding temporal lobe epilepsy has been established. Anterior temporal lobectomy (ATL) is the most frequently implemented procedure. However, there is an obvious need to assess its perioperative safety. OBJECTIVE: We conducted a meta-analysis to estimate the postoperative mortality (Q1) and morbidity (Q2) associated with ATL for medically intractable epilepsy. In addition, we tried to identify the most frequent complications after ATL and assess their relative frequency (Q3) in children and adults. METHODS: Fixed- and random-effects model meta-analysis was conducted to assess the proportion estimate for each outcome individually. RESULTS: The postoperative mortality and cumulative morbidity were estimated to be as high as 0.01 (95% CI: 0.01, 0.02) and 0.17 (95% CI: 0.12, 0.24), respectively. Psychiatric disorders were the most common postoperative complications after ATL, with an estimated frequency as high as 0.07 (95% CI: 0.04, 0.10), followed by visual field defects (0.06; 0.03, 0.11), and cognitive disorders (0.05; 0.02, 0.10). Less frequent complications included hemiparesis and language disorders (0.03; 0.01, 0.06), infections (0.03; 0.02, 0.04), hemorrhage (0.02; 0.01, 0.05), cranial nerve deficits (0.03; 0.02, 0.05), extra-axial fluid collections (0.02; 0.01, 0.03), and medical complications (0.02; 0.01, 0.03). CONCLUSIONS: Even though the mortality after ATL is minimal, the overall morbidity cannot be ignored. Psychiatric disturbances, visual field defects, and cognitive disorders are the most common postoperative complications, and should be considered during the preoperative planning and consultation.


Asunto(s)
Lobectomía Temporal Anterior/efectos adversos , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/cirugía , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/etiología , Adolescente , Adulto , Lobectomía Temporal Anterior/tendencias , Niño , Epilepsia del Lóbulo Temporal/diagnóstico , Epilepsia del Lóbulo Temporal/cirugía , Femenino , Humanos , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/etiología , Resultado del Tratamiento , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/etiología
6.
Hum Genomics ; 11(1): 30, 2017 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-29216901

RESUMEN

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). RESULTS: Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. Further, linkage disequilibrium analyses were suggestive of a specific disease-associated haplotype for FTO gene variants. Genotyping for these variants was performed in Greek, Sardinian, and Turkish sALS patients. A lack of association between FTO and TBC1D1 variants and sALS in patients of Sardinian and Turkish descent may suggest a founder effect in the Greek population. FTO was found to be highly expressed in motor neurons, while in silico analyses predicted an impact on FTO and TBC1D1 mRNA splicing for the genomic variants in question. CONCLUSIONS: To our knowledge, this is the first study to present a possible association between FTO gene variants and the genetic etiology of sALS. In addition, the next-generation sequencing-based genomics approach coupled with the two-step validation strategy described herein has the potential to be applied to other types of human complex genetic disorders in order to identify variants of clinical significance.


Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Esclerosis Amiotrófica Lateral/genética , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/metabolismo , Estudios de Casos y Controles , Simulación por Computador , Efecto Fundador , Proteínas Activadoras de GTPasa/genética , Grecia , Haplotipos , Humanos , Desequilibrio de Ligamiento , Neuronas Motoras/patología , Neuronas Motoras/fisiología , Polimorfismo de Nucleótido Simple
7.
Stroke ; 48(9): 2586-2588, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28751552

RESUMEN

BACKGROUND AND PURPOSE: Plasma GFAP (glial fibrillary acidic protein) has recently emerged as a potential biomarker for the differentiation of acute intracerebral hemorrhage (ICH) from acute ischemic stroke (AIS). We prospectively assessed the diagnostic accuracy of GFAP in the differential diagnosis of ICH. METHODS: Consecutive patients presenting to the emergency department within 6 hours from symptom onset were evaluated. All patients underwent extensive diagnostic work-up and were classified according to discharge diagnosis in AIS, ICH, subarachnoid hemorrhage, and stroke mimics. GFAP was also measured in healthy volunteers (controls). Baseline stroke severity was evaluated using National Institutes of Health Stroke Scale. Receiver operating characteristic curve analysis was used to identify the optimal cutoff point for the differentiation between subgroups. Correlation analyses of GFAP plasma concentrations with baseline National Institutes of Health Stroke Scale and onset to sampling time were performed with the nonparametric Spearman rank test and fractional polynomial regression, respectively. RESULTS: Our study population consisted of 270 individuals (AIS: 121, ICH: 34, stroke mimics: 31, subarachnoid hemorrhage: 5, controls: 79). No differences on baseline stroke severity and onset to sampling time were detected between AIS and ICH. Higher median plasma GFAP values were documented in ICH compared with AIS, stroke mimics, and controls (P<0.001). Receiver operating characteristic analysis highlighted a cutoff value of 0.43 ng/mL as the optimal threshold for the differentiation between ICH and AIS (sensitivity: 91%, specificity: 97%). No association was detected between plasma GFAP concentrations and baseline stroke severity for both AIS (P=0.515) and ICH (P=0.387). In the fractional polynomial analysis, the association between GFAP concentration and onset to sampling time was best described by a J-shaped curve for AIS and an inverted U-shaped curve for ICH, with a peak at 2 hours. CONCLUSIONS: Plasma GFAP seems to be a sensitive and specific biomarker for the differentiation of ICH from both AIS and other acute neurological disorders, with the optimal diagnostic yield being present in the second hour from symptom onset.


Asunto(s)
Isquemia Encefálica/sangre , Hemorragia Cerebral/sangre , Proteína Ácida Fibrilar de la Glía/sangre , Accidente Cerebrovascular/sangre , Hemorragia Subaracnoidea/sangre , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/diagnóstico , Estudios de Casos y Controles , Hemorragia Cerebral/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Curva ROC , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/diagnóstico , Hemorragia Subaracnoidea/diagnóstico
8.
Clin Exp Rheumatol ; 35 Suppl 106(4): 31-34, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28240591

RESUMEN

OBJECTIVES: To study immunoreactivity against human cytomegalovirus (HCMV) in systemic sclerosis (SSc), since HCMV has been put forward as a candidate infectious cause. METHODS: Eighty four patients with SSc (67 females; median age 60 years, range 25-81), 30 patients with multiple sclerosis (MS) (23 females; median age 44, range 20-69 years) and 28 healthy controls (NCs), all pre-tested positive for IgG anti-HCMV antibodies, were studied. IgG anti-UL83 HCMV antibodies were tested by western immunoblotting and expressed in arbitrary units (AUs). Reactivity to UL83 HCMV was assessed in relation to clinical manifestations and SSc-related autoantibodies (autoAbs), tested by an IgG SSc autoantibody profile line immunoassay (Euroimmun) that detects autoAbs against Scl-70, CENPA, CENPB, RNA polymerase III subunit 11 (RP11), RP155, fibrillarin, NOR90, Th/To, PM-Scl100, PM-Scl75, Ku, PDGFR and Ro-52. RESULTS: Fifty patients (59.5%) were anti-UL83 clear positive (UL83+), including 21/40 (52.5%) lcSSc and 29/44 (65.6%) dcSSc, compared to 15/30 (50%) patients with MS (SSc vs MS, p=ns and 11/28 (39.29%) of NCs (SSc vs NC, p=ns MS vs NC, p=ns). Anti-UL83 antibody AU levels (mean±SD) were higher in SSc (64.3 ± 26) compared to MS (49.1±21.6, p=0.05) or NCs (40.4±13.7, p<0.001; MS vs NCs, p=ns) and were associated with pulmonary fibrosis. CONCLUSIONS: Immunoreactivity to UL83 HCMV is frequent and strong in patients with SSc, implying a possible pathogenic role for this disease.


Asunto(s)
Autoanticuerpos/sangre , Fosfoproteínas/inmunología , Esclerodermia Sistémica/inmunología , Proteínas de la Matriz Viral/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/inmunología , Esclerodermia Sistémica/etiología
11.
Front Nutr ; 11: 1383040, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38818135

RESUMEN

The nutritional habits regulate the gut microbiota and increase risk of an autoimmune disease. Western diet is rich in sugars, meat, and poly-unsaturated fatty acids, which lead to dysbiosis of intestinal microbiota, disruption of gut epithelial barrier and chronic mucosal inflammation. In contrast, the Mediterranean Diet (MedDiet) is abundant in ω3 fatty acids, fruits, and vegetables, possessing anti-inflammatory properties that contribute to the restoration of gut eubiosis. Numerous studies have extensively examined the impact of MedDiet and its components on both health and various disease states. Additionally, specific investigations have explored the correlation between MedDiet, microbiota, and the risk of autoimmune diseases. Furthermore, the MedDiet has been linked to a reduced risk of cardiovascular diseases, playing a pivotal role in lowering mortality rates among individuals with autoimmune diseases and comorbidities. The aim of the present review is to specifically highlight current knowledge regarding possible interactions of MedDiet with the patterns of intestinal microbiota focusing on autoimmunity and a blueprint through dietary modulations for the prevention and management of disease's activity and progression.

12.
J Dermatol ; 51(6): 844-848, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38345289

RESUMEN

Biologics approved for psoriasis exhibit favorable safety profiles, and serious adverse events have rarely been reported. In this report, we present the case of a patient treated with ixekizumab, an anti-interleukin (IL)-17 agent, who 8 months later developed multiple sclerosis (MS). We also review the available literature regarding the use of anti-IL-17 agents in the context of psoriasis and pre-existing or new-onset demyelination. Eight case reports were evaluated as relevant and are presented in our report. In most of the cases secukinumab or ixekizumab administration adequately controlled both skin and pre-existing neurological clinical manifestations. However, there has been a report of MS exacerbation under secukinumab treatment and the occurrence of myelitis in a patient receiving ixekizumab. While the anti-IL-17-biologic-mediated induction of inflammatory events in the central nervous system has not been proven and a causal relationship is lacking, such a probability should be considered in extremely rare cases.


Asunto(s)
Anticuerpos Monoclonales Humanizados , Interleucina-17 , Esclerosis Múltiple , Psoriasis , Humanos , Psoriasis/tratamiento farmacológico , Psoriasis/inducido químicamente , Anticuerpos Monoclonales Humanizados/efectos adversos , Interleucina-17/antagonistas & inhibidores , Interleucina-17/inmunología , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/complicaciones , Femenino , Masculino , Adulto , Persona de Mediana Edad , Imagen por Resonancia Magnética
14.
BMC Ophthalmol ; 12: 54, 2012 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-23031247

RESUMEN

BACKGROUND: Visual dysfunction is common in Parkinson's disease (PD). It remains, however, unknown whether it is related to structural alterations of the retina. The aim of this study is to compare visual field (VF) findings and circumpapillary retinal nerve fiber layer (RNFL) thickness in a series of PD patients and normal controls, in order to assess possible retinal anatomical changes and/or functional damage associated with PD. METHODS: PD patients and controls were recruited and underwent VF testing with static automated perimetry and RNFL examination with optical coherence tomography (OCT). Cognitive performance using Mini Mental State Examination (MMSE), PD staging using modified Hoehn and Yahr (H-Y) scale and duration of the disease was recorded in PD patients. RESULTS: One randomly selected eye from each of 24 patients and 24 age-matched controls was included. OCT RNFL thickness analysis revealed no difference in the inferior, superior, nasal or temporal sectors between the groups. The average peripapillary RNFL was also similar in the two groups. However, perimetric indices of generalized sensitivity loss (mean deviation) and localized scotomas (pattern standard deviation) were worse in patients with PD compared to controls (p < 0.01). 73% of eyes of PD patients had glaucomatous-like asymmetrical hemifield defects with abnormal Glaucoma Hemifield Test and various combinations of arcuate defects (n = 12), nasal steps (n = 11) and paracentral scotomas (n = 16). Bilateral defects were found in 14 patients (58%). No correlation was found between VF indices and MMSE or H-Y scores. CONCLUSION: PD patients may demonstrate glaucomatous-like perimetric defects even in the absence of decreased RNFL thickness.


Asunto(s)
Presión Intraocular/fisiología , Enfermedad de Parkinson/complicaciones , Células Ganglionares de la Retina/patología , Baja Visión/diagnóstico , Pruebas del Campo Visual/métodos , Campos Visuales , Estudios Transversales , Femenino , Grecia/epidemiología , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Fibras Nerviosas , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/fisiopatología , Estudios Retrospectivos , Factores de Riesgo , Tomografía de Coherencia Óptica , Baja Visión/epidemiología , Baja Visión/etiología
15.
Acta Neurol Belg ; 122(2): 457-463, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34611842

RESUMEN

BACKGROUND: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by lymphocytic infiltrates of the exocrine glands, particularly the salivary and lacrimal glands, resulting in oral and ocular dryness. pSS has been linked to various neurological manifestations, including cerebellar dysfunction. We aimed to provide a comprehensive analysis of the currently available evidence regarding pSS-related cerebellar ataxia. METHODS: A systematic literature search in the PubMed database was performed and 19 papers were eligible to be included in this paper. RESULTS: The pooled prevalence of cerebellar ataxia in pSS is estimated to be 1.5% (95% CI 0.3-6.8%). pSS patients with cerebellar involvement have a female-to-male ratio of 6:1. Although most of the patients are adults in their fifth decade of life when diagnosed, cases of children with pSS and cerebellar involvement have been reported. Typical cerebellar ataxia related to pSS manifests with vermian dysfunction, namely gait ataxia and/or cerebellar speech. Cerebellar ataxia due to pSS may also mimic degenerative cerebellar ataxia, especially when the onset is progressive. CONCLUSIONS: The diagnostic approach to a patient with cerebellar ataxia of unknown etiology should include evaluation for an underlying pSS. A thorough history and clinical examination, antibody testing, brain MRI imaging and/or MRS of the cerebellum will assist in establishing the diagnosis. Setting up a joint neuro-rheumatology clinic can be valuable given that rheumatic and neurological diseases share comorbidities.


Asunto(s)
Ataxia Cerebelosa , Enfermedades Cerebelosas , Síndrome de Sjögren , Adulto , Ataxia Cerebelosa/etiología , Niño , Femenino , Humanos , Inflamación , Imagen por Resonancia Magnética , Masculino , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/diagnóstico
16.
Neurol Ther ; 11(3): 1375-1390, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35829919

RESUMEN

INTRODUCTION: Multiple sclerosis (MS) is a highly heterogeneous inflammatory disease of the central nervous system. Patient-reported outcomes (PROs) in a real-world clinical setting can provide detailed information about MS from the patient's perspective. PROs were used here to assess quality of life (QoL), treatment satisfaction, clinical efficacy, and safety outcomes in a Greek cohort of relapsing remitting MS (RRMS) patients treated with oral teriflunomide (14 mg/day). METHODS: AURELIO was a 2-year, prospective, observational study whose QoL primary endpoint was assessed with the Multiple Sclerosis Impact Scale (MSIS-29). Secondary endpoints included analyses of Patient Determined Disease Steps (PDDS), Treatment Satisfaction Questionnaire for Medication (TSQM), Expanded Disability Status Scale (EDSS), annualized relapse rate (ARR), adherence, and safety outcomes. RESULTS: AURELIO enrolled 282 patients (62.8% female; mean age 44.8 [SD ± 11] years; EDSS 2.0 [SD ± 1.6]; 44.6% treatment-naïve), with 212 patients (75%) remaining on treatment at study end. MSIS-29 total scores remained stable, while the MSIS-29 psychological scale showed significant improvement (p = 0.0015) at 2 years vs. baseline. TSQM scores at 2 years showed significant improvements in effectiveness (+ 6.6, p = 0.0001), convenience (+ 1.9, p = 0.0256), and global satisfaction (+ 8.1, p = 0.0001) vs. baseline. Disease progression was stable as indicated by non-significant changes in PDDS and EDSS vs. baseline. The ARR was low at 0.065, with a slightly higher ARR in previously treated (0.070) vs. naïve patients (0.058). Adherence was high at > 90%. Overall, 91 patients (32.3%) in the study reported a total of 215 safety events (32 serious, of which 21 were classified as mild-moderate). No new safety signals were observed. CONCLUSIONS: These data highlight the importance of PROs to facilitate personalized treatment strategies in MS. In line with other teriflunomide studies, AURELIO showed stable QoL, efficacy and safety outcomes, and good treatment satisfaction both in treatment-naïve and previously treated patients in this Greek cohort of patients with RRMS.

17.
Naunyn Schmiedebergs Arch Pharmacol ; 395(8): 933-943, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35471586

RESUMEN

Pediatric-onset multiple sclerosis (MS, POMS) accounts for 3-5% of all MS cases and is characterized by a highly inflammatory profile, often warranting treatment with high-efficacy agents. Our aim is to present real-world data of a series of 18 Hellenic POMS patients treated with natalizumab (NTZ) either as adolescents or as adults, after high disease activity has efficiently subsided. Clinical and imaging/laboratory data from 18 POMS patients who have received at least one NTZ infusion were selected in this single-center retrospective observational study. Human leukocyte antigen (HLA) genotyping was performed with standard low-resolution sequence-specific oligonucleotide techniques. Eighteen patients with a mean age of disease onset of 15.3 ± 2.4 years were treated with NTZ with a mean of 51.7 ± 46.4 infusions, 6 as adolescents and 12 as adults. 22.2% were treatment naïve. At the end of the observational period, patients of both groups remained relapse-free, with no radiological activity and significantly reduced disability accumulation. No evidence of disease activity (NEDA)-3 status was achieved in 66.7% of all patients, 58.3% in the adult-treated, and 83.3% in the adolescent-treated POMS patients. NTZ was generally well tolerated. Only 5 adverse events were observed, in 3 patients who were carriers of the HLA-DRB1*15 (HLA-DRB1*15/HLA-DRB1*11 and HLA-DRB1*15/HLA-DRB1*13 genotypes), 1 homozygous for the HLA-DRB1*03 allele and 1 heterozygous for HLA-DRB1*04 and HLA-DRB1*16 alleles. NTZ is highly efficacious and mostly safe for POMS patients with high disease activity in all age groups. The role of immunogenetics in personalized patient evaluation and treatment needs to be further investigated.


Asunto(s)
Esclerosis Múltiple , Natalizumab , Adolescente , Niño , Grecia , Cadenas HLA-DRB1/genética , Humanos , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/genética , Natalizumab/uso terapéutico , Estudios Retrospectivos
18.
Neurology ; 98(19): e1942-e1952, 2022 05 10.
Artículo en Inglés | MEDLINE | ID: mdl-35264426

RESUMEN

BACKGROUND AND OBJECTIVES: Prolonged poststroke cardiac rhythm monitoring (PCM) reveals a substantial proportion of patients with ischemic stroke (IS) with atrial fibrillation (AF) not detected by conventional rhythm monitoring strategies. We evaluated the association between PCM and the institution of stroke preventive strategies and stroke recurrence. METHODS: We searched MEDLINE and SCOPUS databases to identify studies reporting stroke recurrence rates in patients with history of recent IS or TIA receiving PCM compared with patients receiving conventional cardiac rhythm monitoring. Pairwise meta-analyses were performed under the random effects model. To explore for differences between the monitoring strategies, we combined direct and indirect evidence for any given pair of monitoring devices assessed within a randomized controlled trial (RCT). RESULTS: We included 8 studies (5 RCTs, 3 observational; 2,994 patients). Patients receiving PCM after their index event had a higher rate of AF detection and anticoagulant initiation in RCTs (risk ratio [RR] 3.91, 95% CI 2.54-6.03; RR 2.16, 95% CI 1.66-2.80, respectively) and observational studies (RR 2.06, 95% CI 1.57-2.70; RR 2.01, 95% CI 1.43-2.83, respectively). PCM was associated with a lower risk of recurrent stroke during follow-up in observational studies (RR 0.29, 95% CI 0.15-0.59), but not in RCTs (RR 0.72, 95% CI 0.49-1.07). In indirect analyses of RCTs, the likelihood of AF detection and anticoagulation initiation was higher for implantable loop recorders compared with Holter monitors and external loop recorders. DISCUSSION: PCM after an IS or TIA can lead to higher rates of AF detection and anticoagulant initiation. There is no solid RCT evidence supporting that PCM may be associated with lower stroke recurrence risk.


Asunto(s)
Fibrilación Atrial , Ataque Isquémico Transitorio , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Anticoagulantes , Fibrilación Atrial/complicaciones , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/epidemiología , Humanos , Ataque Isquémico Transitorio/complicaciones , Ataque Isquémico Transitorio/diagnóstico , Ataque Isquémico Transitorio/epidemiología , Ensayos Clínicos Controlados Aleatorios como Asunto , Recurrencia , Accidente Cerebrovascular/complicaciones
19.
Int J Ophthalmol ; 14(4): 541-546, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33875945

RESUMEN

AIM: To report the clinical characteristics and diagnostic procedures used in patients with spasm of the near reflex (SNR), in order to present common investigation strategies and diagnostic pitfalls. METHODS: Retrospective case series of twenty-two patients, mainly children, with SNR or accommodation spasm (AS). AS was diagnosed on the basis of blurred vision and a difference of ≥2 dioptres between manifest and cycloplegic retinoscopy. If esotropia and miosis were present, the patients were diagnosed with SNR. All patients underwent visual acuity testing, orthoptic evaluation, assessment of refraction before and after cycloplegia, and dilated fundoscopy. Additional diagnostic investigations, such as neuroimaging, lumbar puncture (LP), electrophysiology and blood tests, were also recorded. Screen use among children was assessed in hours per day. RESULTS: There were 19 female and 3 male patients (age range 7-33y, median=10y). Seventeen patients had AS and 5 patients had SNR, with episodic blurry vision and headaches being the most common symptoms. Brain neuroimaging was performed in six patients (27%), although only one had a history of brain trauma. Two of those patients underwent visual evoked potentials and three also underwent LP and received intravenous steroid therapy. The majority of patients (90%) reported prolonged daily screen time (>2h/d), and in 55% of cases there were concurrent social problems or psychological triggers. Treatment consisted of careful explanation of the condition, atropine 1% eye drops and full cycloplegic correction by means of bifocal glasses. CONCLUSION: The diagnosis of SNR and AS may be challenging, because symptoms are usually intermittent and nonspecific, and a large number of patients are often subjected to redundant and potentially time-consuming examinations and treatment, that may exaggerate the underlying psychological disorder. Hence, detailed clinical testing and assessment of psychosocial profile is necessary, in order to avoid unnecessary investigations. Neuroimaging should be performed only in selected cases. Finally, due to prolonged screen use SNR and AS may become more frequent in the future.

20.
Front Immunol ; 12: 699848, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34367160

RESUMEN

Patients with psoriasis are frequently obese and experience anxiety or suffer from depressive disorders. The immunopathogenesis of psoriasis and indeed psoriatic arthritis is largely based on the pivotal role of IL-17/IL-23 axis, to an extent that currently monoclonal antibodies selectively inhibiting IL-17 or IL-23 are routinely used for the treatment of psoriatic diseases. Emerging data, demonstrating a decisive role for IL-17 and IL-17 producing cell subsets, such as Th17 in the induction and progression of obesity and depression has led authors to suggest that psoriatic disease, obesity and anxiety/depression may indeed be interconnected manifestation of a state of immunedysregulation, the linked being IL-17 and its related cells. We discuss this hypothetical link in depth taking into account the beneficial effects anti-IL17 and anti-IL-17 receptor inhibitors in treating psoriatic disease and the on-going debate as to whether these biologics may exert a direct or indirect effect in ameliorating concomitant obesity and depressive disorders, which are frequently noted in the same patient.


Asunto(s)
Depresión/inmunología , Interleucina-17/inmunología , Obesidad/complicaciones , Obesidad/inmunología , Psoriasis/inmunología , Artritis Psoriásica/complicaciones , Artritis Psoriásica/inmunología , Depresión/complicaciones , Humanos , Psoriasis/complicaciones
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