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Hypersensitivity Pneumonitis (HP) is an immune-mediated interstitial lung disease (ILD) characterized by fibrotic HP (fHP) or non-fibrotic HP (non-fHP). Fibrosis is associated with poor prognosis, emphasizing the need for biomarkers to distinguish fHP from non-fHP. This study aimed to determine the plasma levels of GDF15 in HP patients and assess its association with lung function and phenotype classification. GDF15 levels were quantified by ELISA in HP (n = 64), idiopathic pulmonary fibrosis (n = 54), and healthy control (n = 128) groups. Clinical, demographic, and functional data were obtained from medical records. High-resolution chest CT scans were used to classify HP patients into fHP and non-fHP groups. In addition, receiver operating characteristic analysis was performed to determine the cut-off point, sensitivity, and specificity. Our results revealed significantly elevated GDF15 levels in fHP compared to non-fHP (2539 ± 821 pg/ml versus 1783 ± 801 pg/ml; p = 0.009). The estimated cut-off point for plasma GDF15 levels to distinguish fHP from non-fHP was 2193.4 pg/ml (AUC 0.75). These findings suggest that GDF15 may serve as a valuable biomarker for differentiating between fHP and non-fHP, potentially indicating its involvement in lung fibrosis development in HP.
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Alveolite Alérgica Extrínseca , Fibrose Pulmonar Idiopática , Humanos , Biomarcadores , Fibrose Pulmonar Idiopática/diagnóstico , Fenótipo , Alveolite Alérgica Extrínseca/diagnóstico , Ensaio de Imunoadsorção Enzimática , Fator 15 de Diferenciação de CrescimentoRESUMO
There is evidence that demonstrates the benefits of practicing physical activity/exercise for the mother after childbirth. However, this postpartum period (PP) is often a missed opportunity in a lifetime for women to start or resume physical exercise and get the great benefits that it can bring them. The objective of this article was to analyze the benefits of physical exercise during PP; the prescription of physical exercise; recommendations on when to resume your practice; barriers and facilitators; physical exercise during breastfeeding; as well as its role in the most frequent illnesses and discomforts in this period, always keeping in mind that the work of the primary care doctor is essential to motivate and encourage women to perform physical exercise in the PP.
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Exercício Físico , Período Pós-Parto , Humanos , Feminino , Prescrições , Atenção Primária à SaúdeRESUMO
INTRODUCTION: Terson syndrome (TS) is defined as any intraocular haemorrhage identified in patients with acute intracranial pathology. TS appears to be associated with clinical severity in patients with subarachnoid haemorrhage (SAH), but the association is yet to be defined in patients with traumatic brain injury (TBI) and intracerebral haemorrhage (ICH). This study aimed to evaluate the diagnostic performance of ocular ultrasound (OU) and its usefulness in clinical practice. MATERIAL AND METHODS: We performed an observational, prospective, single-centre study of neurocritical care patients. We analysed cases and controls, defined according to indirect ophthalmoscopy (IO) and OU findings. We determined the diagnostic characteristics of OU. A multivariate analysis was performed to identify clinically relevant associations. RESULTS: The sample included 91 patients diagnosed with ICH (41.76%), SAH (29.67%), and TBI (28.57%). TS was identified by OU in 8 patients (8.79%) and by IO in 24 (24.37%). The adjusted mortality rate in patients with TS showed an odds ratio (OR) of 4.15 (95% confidence interval [CI], 1.52-11.33). All patients with TS detected by OU presented Glasgow Coma Scale scores <â¯9, with an elevated risk of needing decompressive craniectomy (OR: 9.84; 95% CI, 1.64-59). OU presented an overall sensitivity of 30.43%, specificity of 98.53%, and diagnostic accuracy of 81.32%. For the detection of vitreous haemorrhage, sensitivity and specificity were 87.5% and 98.5%, respectively. CONCLUSIONS: OU diagnosis of TS identifies extremely critical patients, who may require the highest level of care; TS is an independent risk factor for in-hospital mortality.
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Hemorragia Subaracnóidea , Hemorragia Vítrea , Humanos , Hemorragia Cerebral , Estudos Prospectivos , Fatores de Risco , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Vítrea/diagnóstico por imagem , Hemorragia Vítrea/complicaçõesRESUMO
Autoimmune rheumatic diseases (ARDs) involve multiple organs including the heart and vasculature. Despite novel treatments, patients with ARDs still experience a reduced life expectancy, partly caused by the higher prevalence of cardiovascular disease (CVD). This includes CV inflammation, rhythm disturbances, perfusion abnormalities (ischaemia/infarction), dysregulation of vasoreactivity, myocardial fibrosis, coagulation abnormalities, pulmonary hypertension, valvular disease, and side-effects of immunomodulatory therapy. Currently, the evaluation of CV involvement in patients with ARDs is based on the assessment of cardiac symptoms, coupled with electrocardiography, blood testing, and echocardiography. However, CVD may not become overt until late in the course of the disease, thus potentially limiting the therapeutic window for intervention. More recently, cardiovascular magnetic resonance (CMR) has allowed for the early identification of pathophysiologic structural/functional alterations that take place before the onset of clinically overt CVD. CMR allows for detailed evaluation of biventricular function together with tissue characterization of vessels/myocardium in the same examination, yielding a reliable assessment of disease activity that might not be mirrored by blood biomarkers and other imaging modalities. Therefore, CMR provides diagnostic information that enables timely clinical decision-making and facilitates the tailoring of treatment to individual patients. Here we review the role of CMR in the early and accurate diagnosis of CVD in patients with ARDs compared with other non-invasive imaging modalities. Furthermore, we present a consensus-based decision algorithm for when a CMR study could be considered in patients with ARDs, together with a standardized study protocol. Lastly, we discuss the clinical implications of findings from a CMR examination.
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Doenças Autoimunes , Doenças Cardiovasculares , Síndrome do Desconforto Respiratório , Doenças Reumáticas , Doenças Autoimunes/complicações , Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/etiologia , Consenso , Humanos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética/efeitos adversos , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico por imagemRESUMO
INTRODUCTION: Traumatic brain injury (TBI) is one of the leading causes of death and disability globally. We present a study describing epidemiological changes in severe TBI and the impact these changes have had on management and analysing alternatives that may improve outcomes in this new population. MATERIALS AND METHODS: We performed a retrospective, descriptive, cross-sectional analysis of patients presenting severe TBI at our hospital in the period of 1992-1996 and 2009-2013. We analysed demographic data, including age, sex, mortality, aetiology, anticoagulation, treatment, and functional outcome. RESULTS: We reviewed data from 220 patients. In the second cohort, there were 40% fewer patients, mean age was 12 years older, patients were more frequently receiving anticoagulation therapy, and the percentage of interventions was halved. Aetiology varied, with traffic accidents being the main cause in the first group, and accidental falls and being hit by cars in the second group. There were no intergroup differences for mortality or functional outcomes. CONCLUSION: The age of patients admitted due to severe TBI has increased. As a result of this, the main cause of severe TBI in our population is accidental falls in elderly, anticoagulated patients. Despite the low-energy nature of trauma, patients in the second cohort presented a poorer baseline status, and were less frequently eligible for surgery, with no improvement in mortality or functional outcomes.
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Lesões Encefálicas Traumáticas , Acidentes por Quedas , Idoso , Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/terapia , Criança , Estudos Transversais , Hospitalização , Humanos , Estudos RetrospectivosRESUMO
Physical activity during pregnancy promotes maternal, fetal and neonatal health. The health benefits of prenatal physical activity include a reduced risk of excess gestational weight gain, gestational diabetes, preeclampsia, labor complications, preterm labor, newborn complications, and postpartum depression. The main guidelines for physical activity/exercise during pregnancy recommend that all pregnant women without medical or obstetric contraindications, remain physically active during the gestation, in order to achieve benefits for their health and at the same time reduce the possibility of complications during pregnancy. We analyze in this article what evidence based medicine (EBM) indicates regarding physical exercise and pregnancy. To do this, we draw on the different existing Cochrane reviews, as well as on the main Clinical practice guidelines and Consensus documents.
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Exercício Físico , Complicações na Gravidez , Medicina Baseada em Evidências , Feminino , Humanos , Recém-Nascido , Gravidez , Complicações na Gravidez/terapiaRESUMO
INTRODUCTION: Terson syndrome (TS) is defined as any intraocular haemorrhage identified in patients with acute intracranial pathology. TS appears to be associated with clinical severity in patients with subarachnoid haemorrhage (SAH), but the association is yet to be defined in patients with traumatic brain injury (TBI) and intracerebral haemorrhage (ICH). This study aimed to evaluate the diagnostic performance of ocular ultrasound (OU) and its usefulness in clinical practice. MATERIAL AND METHODS: We performed an observational, prospective, single-centre study of neurocritical care patients. We analysed cases and controls, defined according to indirect ophthalmoscopy (IO) and OU findings. We determined the diagnostic characteristics of OU. A multivariate analysis was performed to identify clinically relevant associations. RESULTS: The sample included 91 patients diagnosed with ICH (41.76%), SAH (29.67%), and TBI (28.57%). TS was identified by OU in 8 patients (8.79%) and by IO in 24 (24.37%). The adjusted mortality rate in patients with TS showed an odds ratio (OR) of 4.15 (95% confidence interval [CI], 1.52-11.33). All patients with TS detected by OU presented Glasgow Coma Scale scores < 9, with an elevated risk of needing decompressive craniectomy (OR: 9.84; 95% CI, 1.64-59). OU presented an overall sensitivity of 30.43%, specificity of 98.53%, and diagnostic accuracy of 81.32%. For the detection of vitreous haemorrhage, sensitivity and specificity were 87.5% and 98.5%, respectively. CONCLUSIONS: OU diagnosis of TS identifies extremely critical patients, who may require the highest level of care; TS is an independent risk factor for in-hospital mortality.
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INTRODUCTION: Traumatic brain injury (TBI) is one of the leading causes of death and disability globally. We present a study describing epidemiological changes in severe TBI and the impact these changes have had on management and analysing alternatives that may improve outcomes in this new population. MATERIALS AND METHODS: We performed a retrospective, descriptive, cross-sectional analysis of patients presenting severe TBI at our hospital in the period of 1992-1996 and 2009-2013. We analysed demographic data, including age, sex, mortality, aetiology, anticoagulation, treatment, and functional outcome. RESULTS: We reviewed data from 220 patients. In the second cohort, there were 40% fewer patients, mean age was 12years older, patients were more frequently receiving anticoagulation therapy, and the percentage of interventions was halved. Aetiology varied, with traffic accidents being the main cause in the first group, and accidental falls and being hit by cars in the second group. There were no intergroup differences for mortality or functional outcomes. CONCLUSION: The age of patients admitted due to severe TBI has increased. As a result of this, the main cause of severe TBI in our population is accidental falls in elderly, anticoagulated patients. Despite the low-energy nature of trauma, patients in the second cohort presented a poorer baseline status, and were less frequently eligible for surgery, with no improvement in mortality or functional outcomes.
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INTRODUCTION: Cerebrospinal fluid (CSF) from amyotrophic lateral sclerosis (ALS) patients induces cytotoxic effects in in vitro cultured motor neurons. MATERIAL AND METHODS: We selected CSF with previously reported cytotoxic effects from 32 ALS patients. Twenty-eight adult male rats were intracerebroventricularly implanted with osmotic mini-pumps and divided into 3 groups: 9 rats injected with CSF from non-ALS patients, 15 rats injected with cytotoxic ALS-CSF, and 4 rats injected with a physiological saline solution. CSF was intracerebroventricularly and continuously infused for periods of 20 or 43days after implantation. We conducted clinical assessments and electromyographic examinations, and histological analyses were conducted in rats euthanised 20, 45, and 82days after surgery. RESULTS: Immunohistochemical studies revealed tissue damage with similar characteristics to those found in the sporadic forms of ALS, such as overexpression of cystatinC, transferrin, and TDP-43 protein in the cytoplasm. The earliest changes observed seemed to play a protective role due to the overexpression of peripherin, AKTpan, AKTphospho, and metallothioneins; this expression had diminished by the time we analysed rats euthanised on day 82, when an increase in apoptosis was observed. The first cellular changes identified were activated microglia followed by astrogliosis and overexpression of GFAP and S100B proteins. CONCLUSION: Our data suggest that ALS could spread through CSF and that intracerebroventricular administration of cytotoxic ALS-CSF provokes changes similar to those found in sporadic forms of the disease.
Assuntos
Esclerose Lateral Amiotrófica/líquido cefalorraquidiano , Encéfalo/patologia , Líquido Cefalorraquidiano/metabolismo , Infusões Intraventriculares , Medula Espinal/patologia , Adulto , Esclerose Lateral Amiotrófica/patologia , Animais , Células Cultivadas , Líquido Cefalorraquidiano/química , Citotoxinas/farmacologia , Modelos Animais de Doenças , Humanos , Masculino , Neurônios Motores/citologia , Neurônios Motores/efeitos dos fármacos , Neurônios Motores/metabolismo , RatosRESUMO
OBJECTIVES: Cerebrospinal fluid (CSF) from some patients with amyotrophic lateral sclerosis (ALS) has been demonstrated to significantly reduce the neuronal viability of primary cell cultures of motor neurons. We aimed to study the potential clinical consequences associated with the cytotoxicity of CSF in a cohort of patients with ALS. METHODS: We collected CSF from thirty-one patients with ALS. We analysed cytotoxicity by incubating it into the primary cultures of motor cortex neurons. Neural viability was quantified after 24 hours using the colorimetric MTT reduction assay. All patients were followed up from the moment of diagnosis to death, and a complete evaluation during disease progression and survival was performed, including gastrostomy and respiratory assistance. RESULTS: Twenty-one patients (67.7%) presented a cytotoxic CSF. There were no significant differences between patients with and without cytotoxicity regarding mean time from symptom onset to the diagnosis, from the diagnosis to death, from the diagnosis to respiratory assistance with BIPAP, from diagnosis to gastrostomy and from the onset of symptoms to death. In Cox regression analysis, bulbar onset, but not cytotoxicity, gender or age at onset, was associated with a lower risk of survival. CONCLUSIONS: Cerebrospinal fluid cytotoxicity was not associated with differential survival rates. This suggests that the presence of cytotoxicity in CSF, measured through neuronal viability in primary cultures of motor cortex neurons, could reflect different mechanisms of the disease, but it does not predict disease outcome.
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Esclerose Lateral Amiotrófica/líquido cefalorraquidiano , Líquido Cefalorraquidiano/metabolismo , Neurônios Motores/metabolismo , Adulto , Idoso , Esclerose Lateral Amiotrófica/metabolismo , Esclerose Lateral Amiotrófica/patologia , Biomarcadores/líquido cefalorraquidiano , Células Cultivadas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurônios Motores/patologiaRESUMO
Human papillomavirus (HPV) infections are associated with the development of anogenital lesions in men. There are no reports describing the distribution of non-α HPV types in the anal canal of a sexually diverse group of men. The HPV Infection in Men (HIM) Study is a multicentre study on the natural history of HPV infection in Brazil, Mexico, and the USA. At baseline, 12% of anal canal PCR HPV-positive specimens were not typed by the Roche Linear Array, and were considered to be unclassified. Our goals were to characterize HPVs among these unclassified specimens at baseline, and to assess associations with participant socio-demographic and behavioural characteristics. Unclassified HPVs were typed by sequencing of amplified PGMY09/11 products or cloning of PGMY/GP + nested amplicons followed by sequencing. Further analysis was conducted with FAP primers. Of men with unclassified HPV in the anal canal, most (89.1%) were men who have sex with women. Readable sequences were produced for 62.8% of unclassified specimens, of which 75.2% were characterized HPV types. Eighteen, 26 and three different α-HPV, ß-HPV and γ-HPV types were detected, respectively. α-HPVs were more commonly detected among young men (18-30 years) than among older men (45-70 years), whereas ß-HPVs were more frequent among mid-adult men (31-44 years). ß-HPVs were more common among heterosexual men (85.0%) than among non-heterosexual men. All ß-HPVs detected among non-heterosexual men were ß2-HPV types. The high prevalence of ß-HPV in the anal canal of men who do not report receptive anal sex is suggestive of other forms of transmission that do not involve penile-anal intercourse.
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Canal Anal/virologia , Variação Genética , Genótipo , Papillomaviridae/classificação , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/virologia , Adolescente , Adulto , Idoso , Comportamento , Brasil/epidemiologia , Estudos Transversais , Demografia , Feminino , Técnicas de Genotipagem , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Epidemiologia Molecular , Análise de Sequência de DNA , Estados Unidos/epidemiologia , Adulto JovemRESUMO
Basic visual dysfunctions are commonly reported in schizophrenia; however their value as diagnostic tools remains uncertain. This study reports a novel electrophysiological approach using checkerboard visual evoked potentials (VEP). Sources of spectral resolution VEP-components C1, P1 and N1 were estimated by LORETA, and the band-effects (BSE) on these estimated sources were explored in each subject. BSEs were Z-transformed for each component and relationships with clinical variables were assessed. Clinical effects were evaluated by ROC-curves and predictive values. Forty-eight patients with schizophrenia (SZ) and 55 healthy controls participated in the study. For each of the 48 patients, the three VEP components were localized to both dorsal and ventral brain areas and also deviated from a normal distribution. P1 and N1 deviations were independent of treatment, illness chronicity or gender. Results from LORETA also suggest that deficits in thalamus, posterior cingulum, precuneus, superior parietal and medial occipitotemporal areas were associated with symptom severity. While positive symptoms were more strongly related to sensory processing deficits (P1), negative symptoms were more strongly related to perceptual processing dysfunction (N1). Clinical validation revealed positive and negative predictive values for correctly classifying SZ of 100% and 77%, respectively. Classification in an additional independent sample of 30 SZ corroborated these results. In summary, this novel approach revealed basic visual dysfunctions in all patients with schizophrenia, suggesting these visual dysfunctions represent a promising candidate as a biomarker for schizophrenia.
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Esquizofrenia/classificação , Esquizofrenia/complicações , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Adulto , Eletroencefalografia , Potenciais Evocados Visuais/fisiologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Estimulação Luminosa , Curva ROC , Reprodutibilidade dos Testes , Adulto JovemRESUMO
BACKGROUND: A number of changes in the management of heart transplantation (HT) patients have each tended to reduce the risk of post-HT hematologic cancer, but little information is available concerning the overall effect on incidence in the HT population. METHODS: Comparison of data from the Spanish Post-Heart-Transplantation Tumour Registry for the periods 1991-2000 and 2001-2010. RESULTS: The incidence among patients who underwent HT in the latter period was about half that observed in the former, with a particularly marked improvement in regard to incidence more than five yr post-HT. CONCLUSIONS: Changes in HT patient management have jointly reduced the risk of hematologic cancer in the Spanish HT population. Long-term risk appears to have benefited more than short-term risk.
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Transplante de Coração/estatística & dados numéricos , Neoplasias Hematológicas/epidemiologia , Idoso , Feminino , Seguimentos , Insuficiência Cardíaca/cirurgia , Neoplasias Hematológicas/prevenção & controle , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Sistema de Registros , Fatores de Risco , Espanha/epidemiologiaRESUMO
INTRODUCTION: The neurotoxic effects of cerebrospinal fluid (CSF) from patients with amyotrophic lateral sclerosis (ALS) have been reported by various authors who have attributed this neurotoxicity to the glutamate in CSF-ALS. MATERIAL AND METHODS: Cultures of rat embryonic cortical neurons were exposed to CSF from ALS patients during an incubation period of 24 hours. Optical microscopy was used to compare cellular changes to those elicited by exposure to 100µm glutamate, and confocal microscopy was used to evaluate immunohistochemistry for caspase-3, TNFα, and peripherin. RESULTS: In the culture exposed to CSF-ALS, we observed cells with nuclear fragmentation and scarce or null structural modifications to the cytoplasmic organelles or to plasma membrane maintenance. This did not occur in the culture exposed to glutamate. The culture exposed to CSF-ALS also demonstrated increases in caspase-3, TNFα, and in peripherin co-locating with caspase-3, but not with TNFα, suggesting that TNFα may play an early role in the process of apoptosis. CONCLUSIONS: CFS-ALS cytotoxicity is not related to glutamate. It initially affects the nucleus without altering the cytoplasmic membrane. It causes cytoplasmic apoptosis that involves an increase in caspase-3 co-located with peripherin, which is also overexpressed.
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Esclerose Lateral Amiotrófica/líquido cefalorraquidiano , Líquido Cefalorraquidiano/metabolismo , Ácido Glutâmico/farmacologia , Neurônios Motores/efeitos dos fármacos , Animais , Células Cultivadas , Líquido Cefalorraquidiano/química , Citotoxinas/farmacologia , Humanos , Neurônios Motores/citologia , Neurônios Motores/metabolismo , RatosRESUMO
BACKGROUND: Little information is available regarding the consequences of steroid withdrawal following heart transplantation (HT) in Spain. METHODS: We analyzed the records of 1068 patients (81.6% men) who underwent HT between 2000 and 2005 in 13 Spanish centers who were aged ≥ 18 years and who survived at least 1 year. Death rates and Kaplan-Meier survival curves for 1 to 5 years post-HT were compared among four groups: groups A and B, patients on steroids throughout the first 5 years post-HT at dosages of ≤ 5 mg/d between 1-year and 5-year follow-up (group A; n = 148), or >5 mg/d for some part of this period (group B; n = 578). Groups C and D were patients from whom steroids were at some point withdrawn including group D (n = 73) with and group C (n = 269) without subsequent reintroduction into the maintenance regimen. RESULTS: Steroids were withdrawn at 1.6 ± 0.9 years post-HT in group C, and 1.7 ± 1.2 years post-HT in group D. The death rate between 1- and 5-year follow-up (deaths per 1000 person-years) was 44.3% (95% confidence interval 26.2-62.5) in group A, 42.6% (33.7-51.4) in group B, 30.5% (19.6-41.4) in group C, and 47.8% (21.8-73.7) in group D. There was no significant difference among them or among Kaplan-Meier survival curves of the four groups (P = .34 in both cases). Comparison of combined groups C + D with groups A + B showed no evidence of a greater mortality among combined groups C + D. CONCLUSIONS: The late withdrawal of steroids following HT was not associated with increased mortality.
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Corticosteroides/administração & dosagem , Transplante de Coração/imunologia , Imunossupressores/administração & dosagem , Corticosteroides/efeitos adversos , Adulto , Distribuição de Qui-Quadrado , Esquema de Medicação , Quimioterapia Combinada , Feminino , Transplante de Coração/efeitos adversos , Transplante de Coração/mortalidade , Humanos , Imunossupressores/efeitos adversos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Fatores de Risco , Espanha/epidemiologia , Fatores de Tempo , Resultado do TratamentoRESUMO
For many years, tonsillectomy has been used routinely in children to treat chronic or recurrent acute tonsillitis. Palatine tonsils are secondary lymphoid organs and the major barrier protecting the digestive and respiratory tracts from potential invasive microorganisms. They have been used as sources of lymphoid tissue; however, despite the hundreds of papers published on tonsillectomy, no studies addressing the functionality of the CD4(+) and CD8(+) T cells from chronically infected tonsils have yet been published. The aim of this study was to analyse the functionality of the CD4(+) and CD8(+) T cells with respect to tonsillar tissue. We used an affordable approach to measure the frequency of antigen-specific CD4(+) T cells, the direct ex-vivo cytotoxicity of CD8(+) T cells, memory T cell phenotype, cytokine profile and DC phenotype. Our results demonstrate that CD4(+) and CD8(+) T cells from tonsillar tissue are totally functional, as shown by their ability to produce cytokines, to degranulate and to differentiate into effector-memory T cells.
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Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD8-Positivos/imunologia , Tonsila Palatina/citologia , Tonsila Palatina/imunologia , Linfócitos T CD8-Positivos/metabolismo , Criança , Pré-Escolar , Citocinas/biossíntese , Células Dendríticas/imunologia , Células Dendríticas/metabolismo , Epitopos/imunologia , Feminino , Humanos , Memória Imunológica , Imunofenotipagem , Proteína 1 de Membrana Associada ao Lisossomo/metabolismo , Proteína 2 de Membrana Associada ao Lisossomo/metabolismo , Masculino , Perforina/metabolismo , Subpopulações de Linfócitos T/imunologiaRESUMO
INTRODUCTION: N19S mutation is produced by substitution in the 139 position of SOD1 and was described by Mayeux in a patient with amyotrophic lateral sclerosis (ALS). He suggested that it did not have a causal effect as it was found in asymptomatic and sporadic cases. Other authors in later articles did not agree. MATERIAL AND METHODS: We describe a family with 4 members with ALS patients and attempt to find the carrier of the N19S mutation of the propositus. Molecular studies were performed on 15 members of the family of a different order. RESULTS: The ALS cases were found in the maternal line of the propositus. The presence of the mutation was detected in 3 people, the other two were asymptomatic. One of patients with ALS in the family, who died previously, did not have the mutation. Two of the sons of this case and another of the other case did not show it. On the other hand, N19S mutation was only present in paternal branch of the propositus, where there were no cases. CONCLUSION: The described family supports the hypothesis by Mayeux and against that mutation N19S has pathological consequences, since mutation is only in the family line where there are no cases with ALS. In consequence, although the described case is included as a familiar form, it cannot be attributed to the mutation, and its relationship with N19S should be considered as casual.
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Esclerose Lateral Amiotrófica/genética , Mutação/genética , Superóxido Dismutase/genética , DNA/genética , Eletromiografia , Éxons/genética , Família , Feminino , Humanos , Pessoa de Meia-Idade , Exame Neurológico , Reação em Cadeia da Polimerase , Superóxido Dismutase-1RESUMO
OBJECTIVE: The clinical characteristics of patients with relapsing anti-NMDA receptor (NMDAR) encephalitis are not well-defined. In this study, we report the clinical profile and outcome of relapses in a series of anti-NMDAR encephalitis. METHODS: We did a retrospective review of relapses that occurred in 25 patients with anti-NMDAR encephalitis. Relapses were defined as any new psychiatric or neurologic syndrome, not explained by other causes, which improved after immunotherapy or, less frequently, spontaneously. RESULTS: A total of 13 relapses were identified in 6 patients. Four of them had several, 2 to 4, relapses. There was a median delay of 2 years (range 0.5 to 13 years) for the first relapse. Median relapse rate was 0.52 relapses/patient-year. Relapse risk was higher in patients who did not receive immunotherapy in the first episode (p = 0.009). Most cases (53%) presented partial syndromes of the typical anti-NMDAR encephalitis. Main symptoms of relapses were speech dysfunction (61%), psychiatric (54%), consciousness-attention disturbance (38%), and seizures (31%). Three relapses (23%) presented with isolated atypical symptoms suggestive of brainstem-cerebellar involvement. An ovarian teratoma was detected at relapse in only 1 patient (17%). Relapses did not add residual deficit to that caused by the first episode. CONCLUSIONS: Relapses in anti-NMDAR encephalitis are common (24%). They may occur many years after the initial episode. Relapses may present with partial aspects or with isolated symptoms of the full-blown syndrome. Immunotherapy at first episode reduces the risk of relapses.
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Autoanticorpos/biossíntese , Encefalite/imunologia , Receptores de N-Metil-D-Aspartato/imunologia , Adolescente , Adulto , Autoanticorpos/sangue , Criança , Pré-Escolar , Encefalite/diagnóstico , Feminino , Seguimentos , Células HEK293 , Humanos , Imunoterapia/métodos , Lactente , Masculino , Pessoa de Meia-Idade , Receptores de N-Metil-D-Aspartato/antagonistas & inibidores , Receptores de N-Metil-D-Aspartato/sangue , Recidiva , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: QEEG allows a more objective evaluation of cerebral electrical activity as well as the production of topographical maps for easier comprehension. Here we have developed qEEG norms for the first year of life using methods previously published for other age ranges, including for example, regression for Gausssianity before Z transformation. These norms constitute a non-invasive and low cost tool for the functional evaluation of the infant's brain. RESULTS: Developmental equations were obtained from 101 healthy infants recording at spontaneous quiet sleep stage II. Polynomial regression equations, with age as independent variable, were calculated for full Broad Band Spectral Parameters (BBSP) using the Least Squares technique. Interpolated maps of the BBSP values or their Z transformation were constructed for linked-ear reference, average reference and Laplacian montages. All montages produced similar tendency curves and Z maps of absolute and relative power, and mean frequency at all frequency bands. The norms obtained were validated against an independent group of 50 healthy infants and some pathological cases. 91-98% of cases were well classified as normal across all measures and montages. To exemplify, two pathological cases are presented of which their qEEG maps show resemblance to CT and MRI. CONCLUSIONS: These qEEG norms are highly useful as an aid to visual interpretation and for the study of pathology further evolution as well as for assessment of infants showing brain risk factors. To our knowledge this is the first normative qEEG study for the initial year of life with such large sample and validation-group.