Assessing the Impact of IL-6 and Serotonin on Pain and Symptomatology in Fibromyalgia: An Exploratory Clinical Study.

BACKGROUND AND OBJECTIVES: Fibromyalgia (FM) is a chronic musculoskeletal pain syndrome characterized by widespread pain and a variety of other symptoms, including fatigue, cognitive dysfunction, and sleep disturbances. Recent research has highlighted the potential role of pro-inflammatory cytokines and neurotransmitters in the pathophysiology of FM. This study aimed to investigate the relationship between serum levels of interleukin-6 (IL-6) and serotonin with the clinical parameters observed in patients with fibromyalgia. Additionally, it sought to analyze the similarities and differences among the different groups classified by symptom severity. MATERIALS AND METHODS: This cross-sectional study included 26 female patients aged 20-70 diagnosed with FM according to the American College of Rheumatology (ACR) 2016 criteria and 14 healthy controls (HCs). Serum levels of IL-6 and serotonin were measured using electrochemiluminescence and high-performance liquid chromatography (HPLC), respectively. RESULTS: FM patients exhibited significantly higher pain scores (VAS), anxiety, and depression levels compared to HCs. FIQ-R scores were significantly elevated in FM patients, with stratification showing 3.8% mild, 65.4% moderate, 23.1% severe, and 7.7% very severe cases. While no significant difference in IL-6 levels was observed between the FM patients and HCs, a trend towards increased IL-6 levels in patients with higher FIQ-R scores was noted. Serum serotonin levels were significantly lower in the FM patients than in the HCs, with moderate patients having lower levels than those classified as severe and very severe. CONCLUSIONS: The study underscores the potential role of IL-6 and serotonin in the pathophysiology of FM, suggesting that these biomarkers could be relevant in assessing the severity and impact of FM. Further research is needed to elucidate these relationships and their implications for developing personalized treatment strategies.

Association between human leukocyte antigen class II-DR-DQ and narcolepsy: a case control study.

STUDY OBJECTIVES: Narcolepsy is a neurologic disorder characterized by irresistible sleep attacks. Although its etiology is unknown, it is strongly associated with genetic variances in the human leukocyte antigen (HLA) complex. We investigated the association of HLA class II-DR-DQ alleles in a sample of patients with narcolepsy-cataplexy (narcolepsy type 1; NT1) and patients with narcolepsy without cataplexy (narcolepsy type 2; NT2) with a control group. Additionally, we compared demographic, clinical, and laboratory characteristics of patients with narcolepsy with or without the DQB1*06:02 allele. METHODS: This case control study included 21 patients with NT1 (56.8%), 16 patients with NT2 (43.2%), and 100 controls. Sequence-based typing identified HLA-DRB1 alleles, and HLA-DQB1 typing was done using PCR-Sequence-Specific Oligonucleotide. Allele and haplotype frequencies were calculated by direct counting. Nocturnal polysomnography and Multiple Sleep Latency Test were performed in all participants. RESULTS: In the NT1 group, only one allele had a significantly higher frequency than in the NT2 group: DQB1*06:02 (61.9% vs. 18.8%;). Compared to controls, DQB1*06:02 (61.9% vs. 18.0% in controls) and DRB1*15:01(47.6% vs. 8.0%), had higher frequencies in patients with NT1. Multiple analyses showed that patients with NT1 had an increased chance of being HLA-DQB1*06:02 positive. HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype is associated with NT1 in our Brazilian patients. PSG was identified in DQB1*06:02 positive subgroup REM sleep latency (REML) ≤ 15 minutes, and all patients had two or more sleep-onset REM periods (SOREMPs) at MSLT. CONCLUSIONS: This study showed a strong association between HLA DQB1*06:02 and the haplotype HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 in patients with NT1. Patients with DQB1*0602 allele showed shorter REMLs at PSG. These results reinforce the suggestion of DQB1 genotyping as relevant to narcolepsy screening.

Comparison between a handheld ultrasound device and a traditional ultrasound for performing transcranial sonography in patients with Parkinson's disease.

OBJECTIVE: The aim of this study is to compare a portable ultrasound (US) device and a traditional US for performing transcranial ultrasonography (CCT) in patients with Parkinson's disease (PD). METHODS: This is a cross-sectional, observational, and analytical study. The study recruited a total of 129 individuals from two public hospitals in the city of Rio de Janeiro in a prospective and non-randomized manner between September 2019 and July 2021 as follows: group A with 31 patients with PD, group B with 65 patients with PD, and group C with 64 healthy individuals. Group A was used to collect data to establish the agreement analysis of the TCS measurements between the two devices. Groups B and C provided data for constructing the receiver operating characteristic curve for the handheld US. The subjects underwent the assessment of the transtemporal bone window (TW) quality, the mesencephalon area, the size of the third ventricle, and the substantia nigra (SN) hyperechogenicity area. RESULTS: There was a good agreement between the methods regarding the quality of the TW-Kappa concordance coefficient of 100% for the right TW and 83% for the left, the midbrain area-intraclass correlation coefficient (ICC) of 69%, the SN area ICC = 90% for the right SN and 93% for the left and the size of the third ventricle ICC = 96%. The cutoff point for the SN echogenic area in the handheld US was 0.20 cm2 . CONCLUSIONS: The handheld US is a viable imaging method for performing TCS because it shows good agreement with the measurements performed with traditional equipment, and the measurement of SN echogenic area for PD diagnosis presents good sensitivity and specificity.

Cognitive Complaints Assessment and Neuropsychiatric Disorders After Mild COVID-19 Infection.

OBJECTIVES: This study aimed to analyze cognitive impairment associated with long-term coronavirus disease 2019 (COVID-19) syndrome and its correlation with anxiety, depression, and fatigue in patients infected with severe acute respiratory syndrome coronavirus. METHODS: This was a cross-sectional study of 127 patients with COVID-19. Tests to screen for neuropsychiatric symptoms included the Fatigue Severity Scale, Mini-Mental State Exam 2 (MMSE-2), Symbol Digit Modalities Test (SDMT), and Hospital Anxiety and Depression Scale. RESULTS: In cognitive tests, SDMT was abnormal in 22%, being more sensitive than MMSE-2 to detect cognitive changes. Furthermore, although manifestations such as fatigue, depression, and anxiety were frequent in the post-COVID-19 phase, these 3 conditions, known to contribute to cognitive impairment, were slightly correlated with worse performance on the rapid screening tests. CONCLUSIONS: In patients with mild COVID-19 and cognitive complaints, SDMT helped to confirm disturbances in the attention domain and processing speed.

Major depression favors the expansion of Th17-like cells and decrease the proportion of CD39+Treg cell subsets in response to myelin antigen in multiple sclerosis patients.

BACKGROUND: Mood disorders have been associated with risk of clinical relapses in multiple sclerosis (MS), a demyelinating disease mediated by myelin-specific T cells. OBJECTIVES: We aimed to investigate the impact of major depressive disorder (MDD) and cytokine profile of T-cells in relapsing remitting MS patients. METHODS: For our study, plasma and PBMC were obtained from 60 MS patients (30 with lifetime MDD) in remission phase. The PBMC cultures were stimulated with anti-CD3/anti-CD28 beads or myelin basic protein (MBP), and effector and regulatory T cell phenotypes were determined by flow cytometry. The cytokine levels, both in the plasma or in the supernatants collected from PBMC cultures, were quantified by Luminex. In some experiments, the effect of serotonin (5-HT) was investigated. RESULTS: Here, higher Th17-related cytokine levels in response to anti-CD3/anti-CD28 and MBP were quantified in the plasma and PBMC cultures of the MS/MDD group in comparison with MS patients. Further, elevated frequency of CD4+ and CD8+ T cells capable of producing IL-17, IL-22 and GM-CSF was observed in depressed patients. Interestingly, the percentage of myelin-specific IFN-γ+IL-17+ and IFN-γ+GM-CSF+ CD4+ T cells directly correlated with neurological disabilities. In contrast, the occurrence of MDD reduced the proportion of MBP-specific CD39+Tregs subsets. Notably, the severity of both neurological disorder and depressive symptoms inversely correlated with these Tregs. Finally, the addition of 5-HT downregulated the release of Th17-related cytokines in response to anti-CD3/anti-CD28 and myelin antigen. CONCLUSIONS: In summary, our findings suggested that recurrent major depression, by favoring imbalances of effector Th17 and Treg cell subsets, contributes to MS severity.

Post-COVID-19 olfactory dysfunction: carbamazepine as a treatment option in a series of cases.

Olfactory dysfunction is reported frequently in patients with coronavirus disease 2019. However, an effective treatment for this dysfunction is unknown. The present study evaluated carbamazepine as a treatment option for olfactory dysfunction based on its use in cases of neuralgia, especially of the V cranial nerve. The study included 10 patients with coronavirus disease with olfactory complaints who were part of a cohort of 172 coronavirus disease patients monitored for late neurological manifestations. Carbamazepine was administered for 11 weeks. The adverse effects reported were drowsiness (9/10) and dizziness (2/10); 9 of the 10 patients reported improved olfactory function after carbamazepine treatment. While the role of carbamazepine in the control of post-coronavirus disease olfactory dysfunction could not be confirmed in this study, the satisfactory response observed in most patients in this series suggests that further studies are warranted.

Optic neuritis in Asian type opticospinal multiple sclerosis (OSMS-ON) in a non-Asian population: A functional-structural paradox.

BACKGROUND: Biomarkers have improved the classification of autoimmune inflammatory disorders, including optic neuritis (ON) as a frequent presentation of multiple sclerosis, neuromyelitis spectrum disorders, MOG antibody-related disease (MOGAD), and opticospinal multiple sclerosis (OSMS). The phenotype of OSMS in non-Asian populations is less well known. OBJECTIVE: We investigated the clinical features and prognosis of OSMS-ON in a Brazilian cohort. METHODS: This was a single-center cohort study of patients from Rio de Janeiro (Brazil) with OSMS. All individuals were MOG- and AQP4-seronegative, clinically diagnosed with ON, and had magnetic resonance imaging-confirmed transverse myelitis (TM). Subjects and healthy controls (HCs) were assessed for visual acuity (logMAR VA), automated perimetry mean deviation (MD), intraocular pressure, and spectral-domain optical coherence tomography (OCT), followed by automated retinal layer segmentation of the peripapillary retinal nerve fiber layer (pRNFL) and macular ganglion cell and inner plexiform layer (mGCIPL). Receiver operator characteristic curves were plotted and the area under the curve (AUC) was calculated for group comparisons of retinal asymmetry of the pRNFL and mGCIPL. RESULTS: The 30 patients with OSMS were predominantly female and white. The mean age was 48 years (range 20-70 years). Unilateral ON was the index event in 83.3% of patients. Over the average 18-year follow-up period, there were 89 relapses of ON. In individuals with OSMS, the average VA was 0.07±0.14 in the right eye (RE) and 0.13±0.30 in the left eye (LE). The MD was -5.37±5.88 dB and -5.23±3.34 dB for the RE and LE, respectively. There was a significant cumulative loss of VA (p = 0.0003) and MD (p = 0.0001) with a higher number of recurrent episodes. Atrophy of the pRNFL thickness was significant in OSMS (RE, 78.62 ± 16.01 µm; LE, 79.86 ± 13.79 µm) relative to the HC group (RE, 98.87 ± 10.68 µm; LE, 97.87 ± 10.85 µm, p = 0.0001). Likewise, there was significant mGCIPL atrophy in patients with OSMS (RE, 74.96 ± 14.46 µm; LE, 73.88 ± 13.79 µm) relative to the HC group (RE, 90.50 ± 6.74 µm; LE, 90.41± 6.89 µm; p = 0.0001). Retinal asymmetry, inter-eye percentage, and absolute differences accurately separated patients with unilateral ON from HCs (AUC=0.89 and AUC=0.85, respectively). CONCLUSION: A structural-functional paradox was found in OSMS with a high diagnostic value for a novel metric based on retinal asymmetry. The functional visual outcome are excellent despite significant structural damage to the inner retinal layers in patients with a high ON relapse rate and long-term bilateral sequential involvement.

Accuracy of the Brazilian version of the DYMUS questionnaire for the screening of oropharyngeal dysphagia in multiple sclerosis.

BACKGROUND: Oropharyngeal dysphagia is a common symptom of many neurological diseases, including Multiple Sclerosis (MS). Early identification of the risk of dysphagia in neurological patients is very important for early referral for specialized evaluations of oropharyngeal swallowing and treatments. The Dysphagia in Multiple Sclerosis (DYMUS) questionnaire has been translated and validated in different countries over the last 10 years. We aimed to analyze the accuracy of the Brazilian Portuguese version of the DYMUS (DYMUS-BR) questionnaire in identifying dysphagia in patients with MS. METHODS: The DYMUS questionnaire and a videofluorographic swallowing study (VFSS) were conducted in 30 patients with MS. Dysphagia was identified by at least one abnormal response and was considered alarming when the DYMUS scores were equal to or higher than 3. Patients were considered to have dysphagia in the VFSS when one or more signs of impairment in the efficiency and/or safety of swallowing were detected. RESULTS: According to the initial self-assessment, 37% (N = 11) of patients with MS self-reported with dysphagia. According to the DYMUS-BR scores, 53% (N = 16) of the patients with MS were classified as having dysphagia. The sensitivity, specificity, and positive and negative predictive values of the DYMUS-BR questionnaire for the detection of dysphagia as measured by the VFSS were 50% [95% confidence interval (CI) 29-71], 78% (95% CI 61-90), 60% (95% CI 42-76), and 70% (95% CI 60-78), respectively. The area under the receiver-operating characteristic curve for detecting dysphagia was 64% (95% CI 49-79). CONCLUSION: The accuracy of the DYMUS-BR questionnaire is poor to detect mild swallowing impairment in patients with MS. However, we suggest longitudinal follow-up in patients with low DYMUS-BR scores for early detection of oropharyngeal dysphagia.

Neuromyelitis optica is an HLA associated disease different from Multiple Sclerosis: a systematic review with meta-analysis.

Neuromyelitis Optica and Multiple Sclerosis are idiopathic inflammatory demyelinating diseases of the central nervous system that currently are considered distinct autoimmune diseases, so differences in genetic susceptibility would be expected. This study aimed to investigate the HLA association with Neuromyelitis Optica by a systematic review with meta-analysis. The STROBE instrument guided research paper assessments. Thirteen papers published between 2009 and 2020 were eligible. 568 Neuromyelitis Optica patients, 41.4% Asians, 32.4% Latin Americans and 26.2% Europeans were analyzed. Only alleles of the DRB1 locus were genotyped in all studies. Neuromyelitis Optica patients have 2.46 more chances of having the DRB1*03 allelic group than controls. Ethnicity can influence genetic susceptibility. The main HLA association with Neuromyelitis Optica was the DRB1*03:01 allele in Western populations and with the DPB1*05:01 allele in Asia. Differences in the Multiple Sclerosis and Neuromyelitis Optica genetic susceptibility was confirmed in Afro descendants. The DRB1*03 allelic group associated with Neuromyelitis Optica has also been described in other systemic autoimmune diseases.

CLINICAL course of acute disseminated encephalomyelitis in adults from Rio de Janeiro: Retrospective study of 23 cases and literature review.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is a rare inflammatory demyelinating disorder. Most studies involve white children in developed countries in the northern hemisphere. The authors aimed to describe the clinical course and prognostic of a cohort of adult patients with ADEM from Rio de Janeiro city, where most of the population is Afro-descendant. METHODS: We performed a longitudinal study with retrospective data collection of patients with ADEM seen from 1999 to 2016 at a reference center for demyelinating diseases, identifying demographic, clinical, and laboratory data. Then we compared our findings with data from an extensive review of previously published reports. The literature review was carried out using Google Scholar, PubMed, and the reference lists of included studies. Searches were limited to English language original manuscripts published between 2000 and 2019. RESULTS: Among 1396 registers, we identified 23 cases of ADEM, mostly women (78.3%), Afro-descendant (52.4%) with a mean age of 30.8 ± 11.9 years at onset. One quarter had a previous viral infection and, 4.3% vaccination. The presentation was polyfocal, characterized by the association of pyramidal 82.6%, brainstem 69.6%, mental 65.2%, cerebellar 39.1%, sensory 39.1%, sphincter 43.5%, and visual 34.8% syndromes with severe disability in 86.6%. The breakdown of the blood-brain barrier occurred at 60%. MRI was suggestive of ADEM in 87%, with good radiological evolution. A majority had a significant recovery after treatment. CONCLUSIONS: ADEM in adults is a rare, severe, polyfocal disease with a favorable prognosis. The absence of encephalopathy does not exclude the diagnosis.

Is Asian type MS an MS phenotype, an NMO spectrum disorder, or a MOG-IgG related disease?

BACKGROUND: A specific particularity of neurological diseases in Asia is the relative commonality of neuromyelitis optica (NMO) and Asian type MS (OSMS). Both conditions also occur in South American patients. The Brazilian population differs from the European and the Asian populations due to the mixture of ancestralities between European colonizers and African slaves. To better know the clinical characteristics of Brazilian patients with Asian type MS this study aimed to analyze the clinical, radiological and serological data that would help to distinguish between OSMS and NMO and clarify, in a Non-Asian population, if OSMS is an MS phenotype, an NMO spectrum disorder by 2015 classification, or a complement activating antibody to myelin oligodendrocyte glycoprotein (MOG-IgG) antibody-related disease. METHODS: We selected cases retrospectively with NMO and OSMS in the medical registry of patients with idiopathic inflammatory demyelinating diseases under follow-up since 1997 in Federal Hospital da Lagoa, the principal reference center for MS treatment in Rio de Janeiro, Brazil. OSMS has selective involvement of the optic nerve and spinal cord with no cerebral or cerebellar symptoms associated with small spinal cord lesions and negativity for the aquaporin-4 antibody (AQP4-IgG). NMO full-filled the revised criteria (2006) associated with longitudinally extensive transverse myelitis (LETM). We recorded the following data: ethnicity/skin color, neurologic impairment "at nadir" and "at recovery" of the index events (optic neuritis and transverse myelitis), long term disability, mortality, health quality of life scores by the SF-36 questionnaire, CSF IgG oligoclonal bands and serological AQP4-IgG and MOG-IgG antibodies tested by Cell-based assay. The last brain MRIs were classified as either satisfying or not satisfying MAGNIMS radiologic criteria for MS or typical or not typical for NMOSD. The new classification of NMO spectrum disorders (2015) was applied. RESULTS: Forty-one OSMS and 122 NMO cases were analyzed. OSMS affected mainly young white women, causing unilateral optic neuritis and partial myelitis with excellent recovery. After a mean disease duration of 20 years, 90% of the patients had free ambulation, and 70% had a mild disability or no disability. Only 7.2% presented a secondary progressive course, and no deaths occurred. All cases had negativity to AQP4-IgG and MOG-IgG biomarkers. 95% had resonance criteria for MS. OSMS differed from NMO by ethnicity, morbidity, and mortality: most were African descendants, with severe motor and visual dysfunction, and one third died. Only NMO cases full-filled the new NMOSD classification (52 AQP4-IgG positive, 29 AQP4-IgG negative, and 41 AQP4-IgG unknown). CONCLUSION: In Brazilian patients, OSMS and NMO are different immune-mediated diseases. OSMS is a milder MS phenotype.

Author Correction: A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Polineuropatia desmielinizante como manifestação inicial isolada de hanseníase: relato de caso / Demyelinating polyneuropathy as an isolated initial manifestation of leprosy: case report

RESUMO: Modelo do Estudo: Relato de caso. Importância do problema: No mundo, mais de três milhões de pessoas estão vivendo com deficiência física devido à hanseníase. O Brasil é o segundo país com o maior número de casos novos registrados.A magnitude e o alto risco de incapacidade mantêm a doença como problema de saúde pública. O diagnóstico de hanseníase em geral é simples. Porém, quadros com ausência de lesões cutâneas características, somente com alterações neurais, representam um desafio para o diagnóstico diferencial com outras doenças neurológicas. Comentários: Relatamos o caso de um paciente encaminhado ao serviço de neurologia com história clínica e eletroneuromiografia compatíveis com polineuropatia desmielinizante, sem qualquer lesão cutânea ao exame de admissão. O raciocínio clínico inicial foi direcionado para o diagnóstico das polineuropatias desmielinizantes inflamatórias adquiridas como Polineuropatia Desmielinizante Inflamatória Crônica (CIDP) e suas variantes. No entanto, após anamnese e exame físico detalhados, chamou a atenção a ausência do componente atáxico e a presença predominante de alterações sensitivas de fibra fina, espessamento de nervo e importante fator epidemiológico para hanseníase, motivando a suspeita e a in-vestigação desta enfermidade por meio da biópsia de nervo que foi sugestiva de hanseníase. Após três meses, em novo exame do paciente para biopsiar áreas de anestesia para reforçar o diagnóstico, observou-se o surgimento de extensas lesões levemente hipocrômicas no tronco e membros inferiores, cuja biópsia definiu o diagnóstico de hanseníase. (AU)

ABSTRACT: Study: Case report. Importance: Worldwide over three million people are living with disabilities due to leprosy. Brazil is the second country with the highest number of new cases registered. The magnitude and high risk of disability make the disease a public health problem. The diagnosis of leprosy can be simple. However, in the absence of skin lesions and with many possibilities of neurological impairment, diagnosis can become a challenge. Comments: We report the case of a patient referred to the neurology service with a clinical history and electrophysiological tests compatible with demyelinating polyneuropathy, without any skin lesion at admission examination. The initial clinical research was directed to the diagnosis of acquired inflammatory demyelinating polyneuropathies such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)and its variants. However, after anamnesis and detailed physical examination, the absence of the ataxic component and the predominant presence of sensory alterations of fine fiber, nerve thickening and important epidemiological factor for leprosy,led to the suspicion and investigation of this disease by nerve biopsy that was suggestive of leprosy. After three months, in a new patient examination "to perform a biopsy in areas of anesthesia" to reinforce the diagnosis, there was the appearance of extensive slightly hypochromic lesions in the trunk and lower limbs, whose biopsy defined the diagnosis of leprosy.(AU)

Prevalence of multiple sclerosis in Goiânia, Goiás, Brazil.

OBJECTIVE: Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. METHODS: A cross-sectional study using three sources of case ascertainment to estimate the prevalence of MS in the city of Goiânia in December, 2015. RESULTS: A total of 318 MS patients was found after removing overlapping sources. The prevalence of MS was 22.4/100,000 population. CONCLUSION: Our study was the first in Goiás and the third in the midwest region, and we found a great increase in the prevalence of MS in the region. It is necessary to perform other studies using the same methodology for a more accurate evaluation of the true prevalence of MS in Brazil.

TLR-2 and TLR-4 agonists favor expansion of CD4+ T cell subsets implicated in the severity of neuromyelitis optica spectrum disorders.

BACKGROUND: High frequency of circulating Th17 cell subsets expressing TLR2, TLR4 and TLR9 was observed in Neuromyelitis optica spectrum disorder (NMOSD) patients, a severe humoral autoimmune disease of the central nervous system. Our objective was to evaluate the direct effects of different TLR ligands on CD4+ T-cells form those patients. METHODS: CD4+ T-cell cultures from NMOSD and healthy individuals were stimulated with different TLR ligands and the cell proliferation and cytokine profile was analyzed by [3H] TdR up take and ELISA/ cytometry, respectively. The plasma levels of CD14 were determined by ELISA. RESULTS: Here, Pam3C (TLR2) and LPS (TLR4) induced significant cell proliferation and IL-6, IL-17 and IL-21 production by CD4+ T-cells from NMOSD. Additionally, while both TLR ligands were more potent in favoring the expansion of TFH-like cells, Pam3C reduced the frequency of IL-10-secreting FoxP3+and FoxP3- CD4+ T-cells. With regard to disease severity, the levels of IL-6, IL-17 and IL-21 produced by CD4+ T-cells, as well as the frequency of TFH-like cells, in response to TLR2 and TLR4 agonists were positively correlated with neurological disabilities and the occurrence of new acute relapses during follow up. Finally, circulating levels of CD14, an indirect marker of microbial translocation, were positively correlated with IL-6, IL-17 and IL-21 release by Pam3C- and LPS-activated CD4+ T-cells. CONCLUSIONS: In summary, our data suggest that microbial antigens may affect NMOSD outcomes by favoring an imbalance between Th17 and TFH-like cells and regulatory T cell subsets.

A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes.

The variables such as race, skin colour and ethnicity have become intensely discussed in medicine research, as a response to the rising debate over the importance of the ethnic-racial dimension in the scope of health-disease processes. The aim of this study was to identify the European (EUR), African (AFR) and Amerindian (AMR) ancestries on Brazilian health outcomes through a systematic literature review. This study was carried out by searching in three electronic databases, for studies published between 2005 and 2017. A total of 13 papers were eligible. The search identified the following health outcomes: visceral leishmaniosis, malaria, Alzheimer's disease, neuromyelitis optica, multiple sclerosis, prostate cancer, non-syndromic cleft lip/palate, chronic heart failure, sickle cell disease, primary congenital glaucoma, preterm labour, preterm premature rupture of membranes, systemic lupus erythematosus and type 1 diabetes mellitus. Research paper assessments were guided by the STROBE instrument, and agreements between results were determined by comparing the points attributed by two authors. Increased EUR ancestry was identified from preterm labour (PTL), type 1 diabetes (T1D) and non-syndromic cleft lip with or without cleft palate (NSCL), as well as in patients presenting aggressive prostate cancer prognoses. On the other hand, the highest AFR ancestral component was verified from systemic lupus erythematosus (SLE) and primary congenital glaucoma (PCG) cases, presenting worse prognoses. AMR ancestry may be a protective factor in the development of Alzheimer's disease (AD). The worst hemodynamic parameters in cases of heart failure (HF) were identified among individuals with greater AMR and AFR ancestry indices.

Prevalence of multiple sclerosis in Goiânia, Goiás, Brazil / Prevalência de esclerose múltipla em Goiânia, Goiás, Brasil

ABSTRACT Multiple sclerosis (MS) prevalence, in some cities in Brazil, was estimated and was found to range from 0.75 to 30.7/100,000. The reasons for such a large variation in rates of prevalence are not clear, but environment and genetics help to explain this phenomenon. Methods: A cross-sectional study using three sources of case ascertainment to estimate the prevalence of MS in the city of Goiânia in December, 2015. Results: A total of 318 MS patients was found after removing overlapping sources. The prevalence of MS was 22.4/100,000 population. Conclusion: Our study was the first in Goiás and the third in the midwest region, and we found a great increase in the prevalence of MS in the region. It is necessary to perform other studies using the same methodology for a more accurate evaluation of the true prevalence of MS in Brazil.

RESUMO A prevalência de esclerose múltipla (EM) no Brasil foi estimada em algumas cidades e foi encontrada entre 0,75 e 30,7 / 100.000. As razões para tal grande variação nas taxas de prevalência não são claras, mas existem aspectos ambientais e genéticos para explicar esse fenômeno. Métodos: Foram utilizadas três fontes de averiguação de casos para estimar a prevalência de esclerose múltipla (EM) no município de Goiânia em dezembro de 2015. Resultados: Foram encontrados 318 casos de EM, retirando as sobreposições de fontes. A prevalência foi de 22,4 / 100.000. Conclusão: Nosso estudo foi o primeiro em Goiás e o terceiro na Região Centro-Oeste, e encontrou um grande aumento na prevalência de EM na região. É necessário realizar outros estudos utilizando a mesma metodologia para uma melhor avaliação da real prevalência da EM no Brasil.

Familial multiple sclerosis in a Brazilian sample: Is HLA-DR15 involved in susceptibility to the disease?

BACKGROUND: The HLA-DR15 extended haplotype HLA-DRB1*15:01-DQA1*01:02-DQB1*06:02 comprises the strongest genetic risk factor for multiple sclerosis (MS). The aim of this work was to investigate whether HLA-DR15 alleles were significantly associated with the susceptibility to MS familial forms (MSf) in an admixed Brazilian population. METHODS: Association analyses between DR15 and the clinical and demographic variables were made. RESULTS: We have genotyped 25 familial cases. The DR15 was detected in 11/25 (44%) of them and in none of controls (P < .00001). DR15 was significantly associated to a foreign ancestor background (P = .029) and later age of onset (P = .018).

Pediatric Multiple Sclerosis in Rio de Janeiro: Secondary Progression and Disability.

BACKGROUND: The onset of multiple sclerosis (MS) in 2% to 10% of cases occurs prior to 18 years of age. Early age onset appears to affect some aspects of multiple sclerosis. The objective of our study was to evaluate the prevalence, the clinical and demographic characteristics, and the disease progression in a sample of pediatric multiple sclerosis patients from a mixed population. METHODS: In a cross-sectional design, the prevalence, demographic characteristics, and initial clinical forms were compared between 75 cases of pediatric multiple sclerosis (PMS) and 689 adults with MS. Sixty-five PMS patients with complete data and 260 randomly selected adults with relapsing-remitting multiple sclerosis were compared. A Kaplan-Meier analysis was conducted to compare the age at and time to Expanded Disability Status Scale (EDSS) 3, EDSS 6, and secondary progressive multiple sclerosis (SPMS). RESULTS: A total of 9.8% of all MS cases with available data were PMS. All cases of PMS consisted of relapsing-remitting multiple sclerosis. Brazilians of African descent comprised 34.6% of the sample, and the female-to-male ratio was 2.4:1. At the first attack, motor alterations were more common. Benign forms were more common in PMS (84.6% versus 62.2%). Fewer PMS patients reached EDSS 6 (11.6% versus 25.4%) (P = 0.0017) and SPMS (11.1% versus 28.1%) (P = 0.005). PMS patients took longer to reach EDSS 3 (P = 0.017), EDSS 6 (P = 0.001), and SPMS (P < 0.001); however, they reached EDSS 3 earlier (P < 0.001). CONCLUSIONS: In this mixed cohort, the prevalence of PMS was similar to that reported in other studies, and the pediatric patients had a more benign course than adults with MS.

The expansion of circulating IL-6 and IL-17-secreting follicular helper T cells is associated with neurological disabilities in neuromyelitis optica spectrum disorders.

Due to their function in assisting B cells, TFH cells may be involved in the production of pathogenic IgG in neuromyelitis optica spectrum disorder (NMOSD). In the present study, the proportion of IL-6+ and IL-17+ TFH cell subsets was higher in NMOSD patients than healthy individuals. The frequency of both TFH cell subsets were directly associated with disease activity. By contrast, NMOSD patients with a higher proportion of IL-10+ TFH cell subsets showed a lower neurological disabilities score. In summary, all findings suggest that expansion of peripheral IL-6+ and IL-17+ TFH cells may be involved in the severity of NMOSD.