RESUMO
INTRODUCTION: Given the immaturity of the newborn, neonatal seizures are a diagnostic challenge. Most of them are secondary to an acute event. A small percentage constitute the onset of epilepsy. AIMS: The aim was to analyse neonates with a diagnosis of seizures admitted to a tertiary hospital between November 2009 and May 2021, and their subsequent progression to epilepsy. MATERIAL AND METHODS: A retrospective observational study was carried out using the hospital database. Information was collected on neonates with a discharge diagnosis of 'seizures' or 'moderate or severe hypoxic-ischaemic encephalopathy'. Different variables were analysed: aetiology of the seizures, type, persistence over time, treatment and electroclinical correlates. RESULTS: Of 165 patients, 55 presented neonatal seizures. As regards aetiology, 43 patients (78%) had seizures secondary to an acute event, of which 19 (34%) were hypoxic-ischaemic encephalopathies, and 22 (40%) had other acute disorders. Genetic alteration was found in six of them (11%). Thirteen patients (24%) progressed to subsequent epilepsy, of whom seven had symptomatic epilepsy, with a period of latency after the acute event in two patients. Six patients had neonatal epilepsy with unprovoked seizures. Twenty-two (62%) showed electroclinical correlates. All of the confirmed crises (100%) were focal. All the seizures were treated. The drug of choice was phenobarbital. CONCLUSIONS: Diagnosis of neonatal seizures requires high clinical suspicion and electroclinical confirmation. Most of them progress favourably, but a percentage constitute the onset of epilepsy, the identification of which will determine their therapeutic management.
TITLE: Crisis neonatales y evolución a epilepsia en un hospital de tercer nivel.Introducción. Las convulsiones neonatales son un reto diagnóstico, dada la inmadurez del recién nacido. La mayoría son secundarias a un evento agudo. Un pequeño porcentaje constituye el inicio de una epilepsia. Objetivos. Analizar a los neonatos ingresados en un hospital de tercer nivel con diagnóstico de crisis entre noviembre de 2009 y mayo de 2021, y su evolución posterior a epilepsia. Material y métodos. Se ha realizado un estudio observacional retrospectivo utilizando la base de datos del hospital. Se ha recogido la información de los neonatos con diagnóstico en el alta de 'convulsiones' o 'encefalopatía hipóxico-isquémica moderada o grave'. Se analizaron distintas variables: etiología de las crisis, tipo, persistencia temporal, tratamiento y correlato electroclínico. Resultados. De 165 pacientes, 55 presentaron crisis neonatales. En cuanto a la etiología, 43 pacientes (78%) tuvieron crisis secundarias a un evento agudo, de las cuales 19 (34%) fueron encefalopatías hipóxico-isquémicas, y 22 (40%), otras alteraciones agudas. En seis (11%) se encontró alteración genética. Trece pacientes (24%) evolucionaron a una epilepsia posterior, de los cuales siete presentaron una epilepsia sintomática, con un período de latencia tras el evento agudo en dos pacientes. Seis pacientes tuvieron epilepsia neonatal con crisis no provocadas. Veintidós (62%) mostraron correlato electroclínico. El 100% de las crisis confirmadas fueron focales. Todas las crisis se trataron. El fármaco de elección fue el fenobarbital. Conclusiones. El diagnóstico de convulsiones neonatales requiere una alta sospecha clínica y una confirmación electroclínica. La mayoría tiene evolución favorable, pero un porcentaje constituye el inicio de una epilepsia, cuya identificación determinará su manejo terapéutico.
Assuntos
Epilepsia , Hipóxia-Isquemia Encefálica , Recém-Nascido , Humanos , Centros de Atenção Terciária , Epilepsia/etiologia , Convulsões/etiologia , Afeto , Hospitalização , Hipóxia-Isquemia Encefálica/complicaçõesAssuntos
Neoplasias Palpebrais , Pálpebras , Humanos , Neoplasias Palpebrais/diagnóstico , Pálpebras/cirurgia , AdultoRESUMO
The aim of this study was to describe the first occurrence ofKudoasp. inGobioides grahamae, contributing to the understanding of this group of parasites in the Amazonian ichthyofauna. Forty specimens ofG. grahamaecollected from the natural environment were analyzed. Cysts ofKudoasp. were diffusely distributed through the striated skeletal muscle fibers with severe edema and inflammatory infiltrate composed of lymphocytes were observed in 30% of the specimens. Edema and marked coagulation necrosis of the muscle fibers was associated with infection byKudoasp. spores, which had accumulated inside the skeletal muscle fibers. Although there are no records of foodborne outbreaks caused by Kudoa spp. in Brazil, it is of paramount importance that we evaluate its occurrence, since the consumption of fish, especially raw fish, has increased because of the adoption of Japanese cuisine. To minimize the economic impacts on the fisheries market and the risk of this parasite to public health, it is necessary to initiate a program to monitor the presence of this likely underdiagnosed, emerging parasite.(AU)
O objetivo deste estudo foi descrever a primeira ocorrência de Kudoa sp. em Gobioides grahamae, contribuindo, assim, para a compreensão desse grupo de parasitas na ictiofauna amazônica. Foram analisados 40 espécimes de G. grahamae coletados de ambiente natural. Cistos de Kudoa sp. foram distribuídos difusamente através das fibras musculares esqueléticas estriadas com presença de edema grave e infiltrado inflamatório composto de linfócitos, que foram observados em 30% dos espécimes. Edema e necrose de coagulação acentuada das fibras musculares foram associados com a infecção por esporos de Kudoa sp., acumulados no interior das fibras musculares da faringe. Apesar de não haver registros de surtos de origem alimentar causada por Kudoa spp. no Brasil, é de suma importância a avaliação de sua ocorrência, uma vez que o consumo de peixe, especialmente peixe cru, aumentou por causa da adoção da culinária japonesa. Para minimizar os impactos econômicos no mercado da pesca e o risco desse parasita para a saúde pública, é necessário iniciar um programa para monitorar a presença desse parasita emergente, possivelmente subdiagnosticada.(AU)
Assuntos
Animais , Palato/parasitologia , Faringe/parasitologia , Perciformes/parasitologia , Myxozoa/parasitologia , BrasilRESUMO
ETHNOPHARMACOLOGICAL RELEVANCE: Acanthus mollis is a plant native to the Mediterranean region, traditionally used as diuretic, anti-inflammatory and soothing of the mucous membranes of the digestive and urinary tract and externally as healing of wounds and burns, also demonstrating analgesic and anti-inflammatory activities. However, studies focused on its phytochemical composition as well as scientific proof of Acanthus mollis efficacy are scarce. AIM OF THE STUDY: The proposed work aims to perform a phytochemical characterization and evaluation of the therapeutic potential of Acanthus mollis, based on biological properties that support its traditional uses. MATERIAL AND METHODS: In this study, an 96% ethanol extract from Acanthus mollis leaves was obtained and its phytochemical composition evaluated using High Performance Liquid Chromatography with Photodiode Array Detector coupled to Electrospray Ionization Mass Spectrometry (HPLC-PDA-ESI/MSn). The chemical structure of the compound isolated was elucidated using 1H and 13C Nuclear Magnetic Resonance (NMR), 1H-correlation spectroscopy (1H-COSY), heteronuclear single quantum correlation (HSQC) and heteronuclear multiple-bond correlation (HMBC). The quantification of the constituents was performed using two external standards (2,4-dihydroxy-1,4-benzoxazin-3-one and verbascoside). The antioxidant activity was determined by the 2,2-diphenyl-1-pycrylhydrazyl (DPPH) assay. Anti-inflammatory activity was determined measuring the inhibition of nitric oxide production by RAW 264.7 macrophages stimulated with the TLR4 agonist lipopolysaccharide (LPS) and through lipoxygenase (LOX) inhibition assay. The cytotoxicity was screened on two lines (RAW 264.7 and HaCaT) using the resazurin assay. RESULTS: Compounds such as verbascoside and its derivatives, as well as benzoxazinoids were found as the main constituents. A percentage of 5.58% was verified for the 2,4-dihydroxy-1,4-benzoxazin-3-one (DIBOA) derivatives. DIBOA was the main compound of the extract. Significant concentrations were also found for phenylpropanoids, which constitute about 4.39% of the total compounds identified. This extract showed antioxidant capacity against DPPH (IC50 = 40.00⯱â¯1.59⯵g/mL) and superoxide anion (IC50 = 29.42⯱â¯1.99⯵g/mL). It also evidenced anti-inflammatory potential in RAW 264.7 macrophages, presenting capacity for nitric oxide reduction (IC50 = 28.01⯵g/mL). Moreover, in vitro studies have shown that this extract was able to inhibit the lipoxygenase, with an IC50 of 104.39⯱â¯4.95⯵g/mL. Importantly, all effective concentrations were devoid of cytotoxicity in keratinocytes, thus highlighting the safety of the extract for the treatment of skin inflammatory related diseases. Concerning macrophages it was also possible to disclose concentrations showing anti-inflammatory activity and without cytotoxicity (up to 30⯵g/mL). The benzoxazinoid DIBOA demonstrated a considerable anti-inflammatory activity suggesting its important contribution to this activity. CONCLUSIONS: These results corroborate the anti-inflammatory properties traditionally attributed to this plant. Among the compounds identified in this study, benzoxazinoids exhibited a significant anti-inflammatory activity that was never previously described. Ethanol seems to be a good option for the extraction of these bioactive compounds, since relevant antioxidant/anti-radical and anti-inflammatory activities were found for this extract.
Assuntos
Acanthaceae , Anti-Inflamatórios/farmacologia , Benzoxazinas/farmacologia , Extratos Vegetais/farmacologia , Animais , Anti-Inflamatórios/análise , Antioxidantes/análise , Antioxidantes/farmacologia , Benzoxazinas/análise , Linhagem Celular , Sobrevivência Celular/efeitos dos fármacos , Humanos , Queratinócitos/efeitos dos fármacos , Lipopolissacarídeos/farmacologia , Inibidores de Lipoxigenase/análise , Inibidores de Lipoxigenase/farmacologia , Macrófagos/efeitos dos fármacos , Macrófagos/metabolismo , Camundongos , Óxido Nítrico/metabolismo , Compostos Fitoquímicos/análise , Compostos Fitoquímicos/farmacologia , Extratos Vegetais/análise , Folhas de Planta , Células RAW 264.7RESUMO
Attachment insecurity is associated with difficulties in adapting to cancer. Accumulating evidence points to the influence of avoidant emotion processes in this association. This study explored this pathway by examining the association between attachment insecurity and quality of life in women with breast cancer, and by exploring the mediating role of two avoidant emotion processes in this association. Women with breast cancer (N = 155) completed measures of attachment, emotional suppression, emotional awareness and quality of life. Avoidance of attachment was positively associated with emotional suppression (ß = .29, p < .01) and lack of emotional awareness (ß = .27, p < .01), and negatively associated with quality of life (ß = -.22, p < .05). Lack of emotional awareness partially mediated the relationship between attachment avoidance and quality of life (indirect effect ß = -.12, p = .008). Attachment anxiety was not associated with any variable. Attachment avoidance may hinder the process of adaptation to breast cancer and difficulties in identifying and describing emotions may be partly responsible for this influence. Access to and ability to benefit from social and medical supports is likely to depend on being able to engage with others and recognise and process emotions effectively. Research and clinical implications are discussed.
Assuntos
Aprendizagem da Esquiva , Neoplasias da Mama/psicologia , Emoções , Apego ao Objeto , Adaptação Psicológica , Adulto , Idoso , Ansiedade/etiologia , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Qualidade de VidaRESUMO
The use of organophosphates has been recommended for fish, especially the trichlorfon to control parasites. Colossoma macropomum were exposed to trichlorfon during 96 hours and of total number of mucous cells decreased in the number of cells when compared to the control group. Glycoproteins acid, acid sulphated and neutral was identified in the gill epithelium. Neutra glycoprotein had a significant decrease between control and the sublethal concentration. Acid glycoprotein didn't have any significant difference between the groups exposed to the trichlorfon, compared to the control group. Sulfated acidic glycoprotein in the group exposed to the trichlorfon was noticed a reduction in number of mucosal cells acidic sulphated. The differences between density cell and production glycoprotein was a response of these cells after exposure to xenobiotic. The reduction of neutral, acid and sulphated acid glycoprotein in the MC of the gill epithelium Colossoma macropomum may affect gills epithelial surface protection by reducing the formation of an unstirred layer and enhance the ion loss.(AU)
A utilização de organofosforados tem sido recomendada em pisciculturas, principalmente o trichlorfon, para o controle de parasitoses. Colossoma macropomum foram expostos ao trichlorfon durante 96 horas, e o número total de células mucosas diminuiu no número de células quando comparado com o grupo controle. Glicoproteínas ácida, ácida sulfatada e neutra foram identificadas no epitélio branquial. Glicoproteína neutra teve uma diminuição significativa entre o controle e a concentração subletal. Glicoproteína ácida não apresentou diferença significativa entre os grupos expostos ao triclorfon, em comparação com o grupo controle. Glicoproteína ácida sulfatada no grupo exposto ao triclorfon teve uma redução no número de células da mucosa ácida sulfatada. As diferenças entre a densidade celular e a produção de glicoproteína foi uma resposta dessas células após exposição aos xenobióticos. A redução das glicoproteínas neutra, ácida e ácida sulfatada no epitélio branquial de Colossoma macropomum pode afetar a proteção da superfície, reduzindo a formação de uma camada de muco, e aumentar a perda de íons.(AU)
Assuntos
Animais , Peixes/metabolismo , Glicoproteínas/classificação , Compostos Organofosforados/síntese química , PesqueirosRESUMO
This study describes aspects of infections caused by the myxosporidian Kudoa orbicularis in filter-feeding cichlids, Chaetobranchopsis orbicularis, caught in the Arari River in the municipality of Cachoeira do Arari, on Marajó Island, Pará, Brazil. The parasite forms pseudocysts scattered throughout the striated epaxial and hypaxial muscles. Samples embedded in paraffin were analyzed histologically using hematoxylin-eosin, Gömöri, Ziehl-Neelsen, and Giemsa staining. Necropsy of the C. orbicularis specimens revealed that 100% (50/50) were infected with K. orbicularis. The specimens presented grossly abnormal muscle texture, resulting in extensive inconsistencies and weakness. Progressive softening of the muscles was observed during necropsy, indicating the rapid enzymatic autolysis of the tissue. The parasite found in the muscle tissue of C. orbicularis was identified as K. orbicularis, with clinical signs of disease being observed in the fish. The necropsy revealed extensive damage to the host organism, with well-established fibrocystic infections in the muscle fibers, associated with post mortem myoliquefaction.(AU)
O presente estudo descreve os aspectos histopatológicos de infecção causada por mixosporídio da espécie Kudoa orbicularis, o qual forma pseudocistos dispersos em toda a musculatura estriada esquelética, epi e hipoaxial, de Chaetobranchopsis orbicularis, capturados no Rio Arari, município de Cachoeira do Arari, Ilha do Marajó, Pará. Foram realizadas as técnicas histológicas de impregnação em parafina, utilizando-se as colorações de hematoxilina-eosina, Gomori, Ziehl-Neelsen e Giemsa. As análises necroscópicas dos espécimes de C. orbicularis revelaram 100% (50/50) de infecção por K. orbicularis. Os espécimes apresentavam macroscopicamente musculatura com características anormais de textura, se mostrava inconsistente e frágil. Durante a necropsia, pôde ser observado um progressivo amolecimento da musculatura, o que demonstra um rápido processo enzimático autolítico. Com base nos achados descritos neste trabalho, caracterizou-se uma infecção da musculatura de C. orbicularis por K.orbicularis, com demonstração de sinais clínicos de doença no peixe; os achados necroscópicos mostraram danos ao organismo hospedeiro, com instalação de infecção fibrosística nas fibras musculares, associada com uma mioliquefação post mortem.(AU)
Assuntos
Animais , Liquefação , Músculos/lesões , Myxozoa , Perciformes/lesõesRESUMO
Phototherapy has demonstrated positive effects in the treatment of peripheral nerve injury, but there is a need to investigate the dosimetric parameters. Thus, the aim of the present study was to conduct a literature review on the effects of photobiomodulation with the use of low-level laser therapy (LLLT) on the treatment of peripheral nerve injury in experimental models. The databases of PubMed/MEDLINE, SCOPUS, and SPIE Digital Library were searched for articles on the use of LLLT in experimental models of peripheral nerve injury published in English between January 2007 and March 2016. The laser parameter variability was wavelength (632.8 to 980 nm), power (10 to 190 mW), and total energy (0.15 to 90 J) in pulsed or continuous wave and single or multiple points. Eighteen original articles demonstrating the effects of LLLT on the acceleration of functional recovery, morphological aspects as well as the modulation of the expression inflammatory cytokines, and growth factors were selected. LLLT is a viable phototherapeutic modality for the treatment of peripheral nerve injury, demonstrating positive effects on the neuromuscular repair process using either red or infrared light. The majority of studies used a power of up to 50 mW and total energy of up to 15 J administered to multiple points. The determination of these parameters is important to the standardization of a LLLT protocol to enhance the regeneration process following a peripheral nerve injury.
Assuntos
Terapia com Luz de Baixa Intensidade/métodos , Traumatismos dos Nervos Periféricos/radioterapia , Animais , Modelos Animais de Doenças , Regeneração Nervosa/efeitos da radiação , Recuperação de Função FisiológicaRESUMO
Processing of Precursor 1 (POP1) is a large protein common to the ribonuclease-mitochondrial RNA processing (RNase-MRP) and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage-hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected. Biallelic POP1 mutations were identified in both. A missense mutation and a novel single base deletion were detected in proband 1, p.[Pro582Ser]:[Glu870fs*5]. Markedly reduced abundance of RMRP and elevated levels of pre5.8s rRNA was observed. In proband 2, a homozygous novel POP1 mutation was identified, p.[(Asp511Tyr)];[(Asp511Tyr)]. These two individuals show the phenotypic extremes in the clinical presentation of POP1-dysplasias. Although CHH and other skeletal dysplasias caused by mutations in RMRP or POP1 are commonly cited as ribosomal biogenesis disorders, recent studies question this assumption. We discuss the past and present knowledge about the function of the RMRP complex in skeletal development.
Assuntos
Proteínas Reguladoras de Apoptose/genética , Nanismo/genética , Predisposição Genética para Doença , Anormalidades Musculoesqueléticas/genética , Osteocondrodisplasias/genética , Ribonucleoproteínas/genética , Criança , Pré-Escolar , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Feminino , Homozigoto , Humanos , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/fisiopatologia , Mutação de Sentido Incorreto/genética , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/fisiopatologia , Fenótipo , RNA Longo não Codificante/genéticaRESUMO
Este estudo verificou o nível de glicerina bruta em substituição total do óleo de soja e parcial do milho em dietas de juvenis de tambaqui sem que o ingrediente interfira no desempenho zootécnico desses animais. O trabalho foi realizado na Universidade Federal do Tocantins, avaliando cinco níveis de inclusão da glicerina bruta (0%; 7,5%; 10%; 12,5% e 15%) em três repetições com 10 animais cada (n=150 tambaquis). Esses animais foram alimentados com as rações experimentais por um período de 75 dias (15 dias de adaptação e 60 dias experimentais). Ao final desse período, os animais foram contidos para a mensuração dos valores do desempenho zootécnico dos animais (taxa de crescimento específico, conversão alimentar aparente, eficiência alimentar, índice hepatossomático, ganho de peso e fator de condição). Durante o período experimental, não houve mortalidade, e de todos os índices avaliados apenas no fator de condição do animal ocorreu diferença estatística, quando se comparou o período inicial e o final do experimento. A inclusão de até 15% de glicerina bruta em dietas de tambaqui em substituição total do óleo de soja e parcial do milho pode ser realizada sem que prejudique o desempenho zootécnico da espécie estudada.(AU)
This study examined the level of crude glycerin in total replacement of soybean oil and partial replacement of corn in diets for tambaqui without ingredient interfering on the growth performance of these animals. The study was conducted at the Federal University of Tocantins, evaluating five levels of crude glycerin inclusion (0%, 7.5%, 10%, 12.5%, and 15%) in 3 replicates with 10 animals each (n = 150 tambaqui.) These animals were fed the experimental diets for a period of 75 days (15 days of adaptation and 60 days of trial), at the end of this period the animals were restrained to measure the values of the growth performance of animals (Specific growth rate, apparent food conversion, feed efficiency, hepatosomatic index, weight gain, and condition factor). During the study period, there were no deaths and in all indices evaluated, only the animal's condition factor presented statistical difference when comparing the initial and final periods of the experiment. The inclusion of up to 15% crude glycerin in tambaqui diets in total replacement of soybean oil and partial replacement of corn can be used without prejudice to the growth performance of the species studied.(AU)
Assuntos
Animais , Ração Animal/estatística & dados numéricos , Characidae , Dieta/métodos , Glicerol/administração & dosagem , Aumento de Peso , Biocombustíveis/estatística & dados numéricosRESUMO
UNLABELLED: Studying molecules that are differentially expressed in cancers as well as benign and normal tissues is crucial for identifying novel biomarkers for cancer immunotherapy. This study aimed to investigate the clinical utility of the immunochemical expression of the proliferative cell marker Ki-67 and the apoptotic blocker Mcl-1 in papillary thyroid carcinoma (PTC). METHODS: We built a tissue microarray with 282 thyroid specimens. There were 59 PTCs including 35 classic (CPTC), 3 tall cell (TCPTC) and 21 follicular variants (FVPTC); 79 benign thyroid diseases (22 follicular adenomas; 57 adenomatoid hyperplasia); 33 Hashimoto's thyroiditis (HT) specimens; and 111 normal thyroid tissues. Clinical history and ultrasound data were retrospectively obtained by chart review. RESULTS: Mcl-1 overexpression was evident in 66.7% of the PTC tissues compared to 32% of the benign thyroid diseases. Mcl-1 strong staining distinguished benign from malignant thyroid lesions (sensitivity=61.3%; specificity=72.8%; negative predictive value, NPV=68%; positive predictive value, PPV=66.7% and 67.5% accuracy). Positive nuclear Ki-67 staining was observed in 34% of PTCs vs. 19% of thyroid adenomas (P=0.031). Strong Mcl-1 and Ki-67 co-expression was identified in 57.5% of PTCs with a higher PPV (75.8%). Mcl-1 and Ki-67 expression was not associated with any clinicopathological feature of malignancy. No deaths occurred during the follow-up. CONCLUSIONS: Mcl-1 immunochemical overexpression allowed differentiating low-risk PTC from the benign thyroid lesions. We suggest that Mcl-1 expression may help differentiate follicular patterned thyroid lesions. The influence of the Mcl-1 expression on several features of tumor aggressiveness has to be studied in large series of high-risk thyroid carcinomas.
Assuntos
Biomarcadores Tumorais/metabolismo , Carcinoma/metabolismo , Antígeno Ki-67/metabolismo , Proteína de Sequência 1 de Leucemia de Células Mieloides/metabolismo , Neoplasias da Glândula Tireoide/metabolismo , Adulto , Carcinoma Papilar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Câncer Papilífero da TireoideRESUMO
BACKGROUND: Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3 gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population. METHODS: A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced. RESULTS: Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p=0.004, OR=16.2 [1.34-195.15]). CONCLUSIONS: In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cells.
Assuntos
Doenças Autoimunes/imunologia , Fatores de Transcrição Forkhead/metabolismo , Hipersensibilidade/imunologia , Linfócitos T Reguladores/fisiologia , População Branca , Adulto , Idoso , Animais , Análise Mutacional de DNA , Feminino , Fatores de Transcrição Forkhead/genética , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , EspanhaRESUMO
INTRODUCTION: Bronchiolitis is a heterogeneous group of diseases of an inflammatory nature, centered on small conducting airways and often associated with other pulmonary disorders. No single classification scheme for bronchiolar diseases has been widely accepted. In this retrospective study, it was decided to apply a new clinical and pathological interpretative classification. OBJECTIVES: To propose a new clinical and pathological interpretative classification for adult bronchiolitis, based on statistical analysis of a population of 193 patients with histopathological diagnosis of bronchiolitis. MATERIALS AND METHODS: A retrospective study analyzed the epidemiological characteristics, co-morbidities and radiological findings present in a group of patients with histopathological diagnosis of bronchiolitis. RESULTS: This trial involved 193 cases collected over a period of eleven years; 48 (24.9%) patients had simultaneous pulmonary disease; non-pulmonary diseases, such as cardiovascular diseases, type II Diabetes mellitus and dyslipidemia were present in 57 cases. The image study was extremely important in order to integrate clinical and pathological aspects. In this study respiratory bronchiolitis related to smoking dominated. The radiological findings confirmed the secondary nature of the histopathological features, with prevalence of ground-glass patterns, pneumothorax and patterns of interstitial involvement, as described in the literature. It was also verified that clinical behavior of different forms of bronchiolitis was important to distinguish the various types, since they could progress without typical anatomopathological aspects. CONCLUSION: This trial showed that the vast majority of diagnosis obtained corresponded to bronchiolitis as secondary to pulmonary pathology. In most cases, morphological findings had to be complemented with clinical and radiological characteristics, in order to obtain the final diagnosis.