Lobomycosis is a subcutaneous mycosis of chronic evolution caused by the Lacazia loboi fungus. Its distribution is almost exclusive in the Americas, and it has a particularly high prevalence in the Amazon basin. Cases of lobomycosis have been reported only in dolphins and humans. Its prevalence is higher among men who are active in the forest, such as rubber tappers, bushmen, miners, and Indian men. It is recognized that the traumatic implantation of the fungus on the skin is the route by which humans acquire this infection. The lesions affect mainly exposed areas such as the auricles and upper and lower limbs and are typically presented as keloid-like lesions. Currently, surgical removal is the therapeutic procedure of choice in initial cases. Despite the existing data and studies to date, the active immune mechanisms in this infection and its involvement in the control or development of lacaziosis have not been fully clarified. In recent years, little progress has been made in the appraisal of the epidemiologic aspects of the disease. So far, we have neither a population-based study nor any evaluation directed to the forest workers.

Este é um artigo publicado em acesso aberto (Open Access) sob a licença Creative Commons Attribution, que permite uso, distribuição e reprodução em qualquer meio, sem restrições, desde que o trabalho original seja corretamente citado.

Multiple sclerosis (MS) disease risk is associated with reduced sun-exposure. This study assessed the relationship between measures of sun exposure (vitamin D [vitD], latitude) and MS severity in the setting of two multicenter cohort studies (nNationMS = 946, nBIONAT = 990). Additionally, effect-modification by medication and photosensitivity-associated MC1R variants was assessed. High serum vitD was associated with a reduced MS severity score (MSSS), reduced risk for relapses, and lower disability accumulation over time. Low latitude was associated with higher vitD, lower MSSS, fewer gadolinium-enhancing lesions, and lower disability accumulation. The association of latitude with disability was lacking in IFN-β–treated patients. In carriers of MC1R:rs1805008(T), who reported increased sensitivity toward sunlight, lower latitude was associated with higher MRI activity, whereas for noncarriers there was less MRI activity at lower latitudes. In a further exploratory approach, the effect of ultraviolet (UV)-phototherapy on the transcriptome of immune cells of MS patients was assessed using samples from an earlier study. Phototherapy induced a vitD and type I IFN signature that was most apparent in monocytes but that could also be detected in B and T cells. In summary, our study suggests beneficial effects of sun exposure on established MS, as demonstrated by a correlative network between the three factors: Latitude, vitD, and disease severity. However, sun exposure might be detrimental for photosensitive patients. Furthermore, a direct induction of type I IFNs through sun exposure could be another mechanism of UV-mediated immune-modulation in MS.

We report a 7-year-old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.

ObjectiveTo identify CSF parameters at diagnosis of clinically isolated syndrome (CIS) and MS that are associated with early inflammatory disease activity as measured by standardized cerebral MRI (cMRI).MethodsOne hundred forty-nine patients with newly diagnosed CIS and MS were included in the retrospective study. cMRI at onset and after 12 months was analyzed for T2 and gadolinium-enhancing lesions. CSF was tested for oligoclonal bands and intrathecal synthesis of immunoglobulin G (IgG), A (IgA), and M (IgM) before initiation of disease-modifying therapy (DMT). In a subgroup of patients, CSF and serum samples were analyzed for sCD27, neurofilament light chain, and IgG subclasses 1 and 3. Association between CSF parameters and cMRI activity was investigated by univariable and multivariable regression analysis in all patients, DMT-treated patients, and untreated patients.ResultsIgG index, sCD27 levels in CSF, and to a lesser extent IgM index were associated with the occurrence of new cMRI lesions. IgG index and sCD27 levels in CSF were highly correlated. In a multivariable analysis, IgG index and to a lesser extent IgM index together with DMT treatment status and gender were strongest predictors of future cMRI activity.ConclusionsCSF parameters such as IgG and IgM index are independently associated with future MRI activity and thus might be helpful to support early treatment decisions in patients newly diagnosed with CIS and MS.

Temporal triangular alopecia, also referred as congenital triangular alopecia, is an uncommon dermatosis of unknown etiology. It is characterized by a non-scarring, circumscribed alopecia often located unilaterally in the frontotemporal region. It usually emerges at ages 2-9 years. Alopecia areata is the main differential diagnosis, especially in atypical cases. Dermoscopy is a noninvasive procedure that helps distinguish temporal triangular alopecia from aloepecia areata. Such procedure prevents invasive diagnostic methods as well as ineffective treatments.

Um profundo agradecimento a Ana Flávia, orientadora sensível e cuidadosa que soube reconhecer, pontuar e separar questões e angústias pessoais dos resultados da pesquisa.Sua postura ética, de aceitação e não julgamento permeou todos os nossos encontros, permitindo uma construção conjunta do conhecimento com muito respeito ao meu tempo no processo de aprendizado e meu amadurecimento pessoal que caminhou paralelamente.A Lilia Schraiber, pela delicadeza em suas colocações e significativas contribuições na qualificação.A Lygia França, pelas preciosas contribuições teóricas que trouxeram novos rumos à análise.A Mirian, pela gentileza de conferir toda a formatação da dissertação.Aos meus pais, por acompanharem meus voos. Ao meu pai, Mário, uma admiração profunda pela sua fé e confiança na vida, e à minha mãe, Irvani, pelo carinho e empenho em estar junto.Aos meus irmãos, pela parceria. Ao meu irmão, Fábio, por me ensinar a brincar, e à minha irmã, Juliana, por sua aceitação e lealdade.Ao companheiro e parceiro, Rhenan, pelo carinho, cuidado e por tornar minha vida mais leve.A todos os psicólogos e psicólogas participantes da pesquisa, pela disponibilidade em compartilhar suas reflexões sobre a prática do próprio trabalho. A Juliana Pacheco, pelas contribuições e colaborações ao longo de todo o processo.A todas amigas e amigos, pela compreensão de minhas ausências e cansaços e por todo apoio e estímulo aos meus projetos de vida. There was a significant tension over who was responsible for the assistance, teamwork difficulties, imbalance of power between specialists and Family Health professionals, unequal division of labor. With respect to this last point, EqSF is responsible for direct assistance to the population with NASF being responsible for training and supervision. Additionally, another difficulty was that the organizing of work was not chosen according to the regional health needs and specific cases in that territory. Next, there was devaluation of the core knowledge over the field. There were a failure to establish parameters of what knowledge and practice is common to all, and what is specific to each professional. Lack of resources overburdened the primary health care (APS) with an excess of demand for the contingent of professionals available. In addition, the study identified a weak and poorly coordinated management. Despite the difficulties encountered, psychologists contributed to the Matrix Support with an amplified vision of the following: recognition of subjectivity implied in the process of health and sickness, intrapersonal and family dynamics, identification of emotional aspects, importance of listening without judgment and decrease stigma of mental disorders. To be effective, Matrix Support needs to recognize which aspects concern the field of APS that are common to all and which are the specific competencies under the responsibility of the cores team of the support professionals, contributing to more horizontal encounters and a more democratic and collaborative division of labour, in addition to ...

ObjectiveIn this observational study, we investigated the impact of genetic factors at the immunoglobulin heavy chain constant locus on chromosome 14 and the major histocompatibility complex region on intrathecal immunoglobulin G, A, and M levels as well as on B cells and plasmablasts in the CSF and blood of patients with multiple sclerosis (MS).MethodsUsing regression analyses, we tested genetic variants on chromosome 14 and imputed human leukocyte antigen (HLA) alleles for associations with intrathecal immunoglobulins in 1,279 patients with MS or clinically isolated syndrome and with blood and CSF B cells and plasmablasts in 301 and 348 patients, respectively.ResultsThe minor alleles of variants on chromosome 14 were associated with higher intrathecal immunoglobulin G levels (β = 0.58 [0.47 to 0.68], lowest adjusted p = 2.32 × 10−23), and lower intrathecal immunoglobulin M (β = −0.56 [−0.67 to −0.46], p = 2.06 × 10−24) and A (β = −0.42 [−0.54 to −0.31], p = 7.48 × 10−11) levels. Alleles from the HLA-B*07:02-DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype were associated with higher (lowest p = 2.14 × 10−7) and HLA-B*44:02 with lower (β = −0.35 [−0.54 to −0.17], p = 1.38 × 10−2) immunoglobulin G levels. Of interest, different HLA alleles were associated with lower intrathecal immunoglobulin M (HLA-C*02:02, β = −0.45 [−0.61 to −0.28], p = 1.01 × 10−5) and higher immunoglobulin A levels (HLA-DQA1*01:03-DQB1*06:03-DRB1*13:01 haplotype, β = 0.40 [0.21 to 0.60], p = 4.46 × 10−3). The impact of HLA alleles on intrathecal immunoglobulin G and M levels could mostly be explained by associations with CSF B cells and plasmablasts.ConclusionAlthough some HLA alleles seem to primarily drive the extent of humoral immune responses in the CNS by increasing CSF B cells and plasmablasts, genetic variants at the immunoglobulin heavy chain constant locus might regulate intrathecal immunoglobulins levels via different mechanisms.