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This study aimed to perform a strategic diagnosis on a property specialized in breeding, rearing and finishing beef cattle in the southern region of Piauí. It was conducted at Agropecuária Alvorada, located in the countryside, municipality of Bom Jesus, PI, Brazil. The farm develops the full cycle of beef cattle production, which is divided into breeding, rearing and finishing. A SWOT analysis (which stands for Strengths, Weaknesses, Opportunities and Threats) was carried out, consisting of an assessment of the property's internal and external environments. To evaluate the internal environment, an interview was held for data collection by means of questionnaires. The evaluation included: breeding management, sanitary management, nutritional management, infrastructure, workforce, technologies used in pasture formation, conservation and recovery, pasture management and zootechnical indices. To analyze the external environment, a group of people (experts) with deep knowledge of the subject addressed during the study was used as source of information. A matrix was generated with all the information from the SWOT analysis, strengths, weaknesses, opportunities and threats, culminating with the establishment of strategies to increase the productive efficiency of the cattle raising activity.(AU)
Assuntos
Animais , Bovinos/fisiologia , Criação de Animais Domésticos/métodos , Brasil , PastagensRESUMO
O angioedema hereditário é uma doença autossômica dominante caracterizada por crises recorrentes de edema que acometem o tecido subcutâneo e o submucoso, com envolvimento de diversos órgãos. Os principais locais afetados são face, membros superiores e inferiores, as alças intestinais e as vias respiratórias superiores. Em decorrência da falta de conhecimento dessa condição por profissionais de saúde, ocorre atraso importante no seu diagnóstico, comprometendo a qualidade de vida dos indivíduos afetados. Além disso, o retardo no diagnóstico pode resultar em aumento da mortalidade por asfixia devido ao edema de laringe. A natureza errática das crises com variação do quadro clínico e gravidade dos sintomas entre diferentes pacientes, e no mesmo paciente ao longo da vida, se constitui em desafio no cuidado dos doentes que têm angioedema hereditário. O principal tipo de angioedema hereditário é resultante de mais de 700 variantes patogênicas do gene SERPING1 com deficiência funcional ou quantitativa da proteína inibidor de C1, porém nos últimos anos outras mutações foram descritas em seis outros genes. Ocorreram avanços importantes na fisiopatologia da doença e novas drogas para o tratamento do angioedema hereditário foram desenvolvidas. Nesse contexto, o Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) em conjunto com a Associação Brasileira de Alergia e Imunologia (ASBAI) atualizou as diretrizes brasileiras do angioedema hereditário. O maior conhecimento dos diversos aspectos resultou na divisão das diretrizes em duas partes, sendo nessa primeira parte abordados a definição, a classificação e o diagnóstico.
Hereditary angioedema is an autosomal dominant disease characterized by recurrent attacks of edema that affect the subcutaneous tissue and the submucosa, involving several organs. The main affected sites are the face, upper and lower limbs, gastrointestinal tract, and upper airways. Because health professionals lack knowledge about this condition, there is a significant delay in diagnosis, compromising the quality of life of affected individuals. Furthermore, delayed diagnosis may result in increased mortality from asphyxia due to laryngeal edema. The erratic nature of the attacks with variations in clinical course and severity of symptoms among different patients and in one patient throughout life constitutes a challenge in the care of patients with hereditary angioedema. The main type of hereditary angioedema results from more than 700 pathogenic variants of the SERPING1 gene with functional or quantitative deficiency of the C1 inhibitor protein, but in recent years other mutations have been described in six other genes. Important advances have been made in the pathophysiology of the disease, and new drugs for the treatment of hereditary angioedema have been developed. In this context, the Brazilian Study Group on Hereditary Angioedema (GEBRAEH) in conjunction with the Brazilian Association of Allergy and Immunology (ASBAI) updated the Brazilian guidelines on hereditary angioedema. Greater knowledge of different aspects resulted in the division of the guidelines into two parts, with definition, classification, and diagnosis being addressed in this first part.
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Humanos , Terapêutica , Classificação , Diagnóstico , Angioedemas Hereditários , Qualidade de Vida , Asfixia , Sinais e Sintomas , Sociedades Médicas , Preparações Farmacêuticas , Glicoproteínas , Edema Laríngeo , Alergia e Imunologia , MutaçãoRESUMO
O tratamento do angioedema hereditário tem início com a educação dos pacientes e familiares sobre a doença, pois é fundamental o conhecimento da imprevisibilidade das crises, assim como os seus fatores desencadeantes. O tratamento medicamentoso se divide em terapia das crises e profilaxia das manifestações clínicas. As crises devem ser tratadas o mais precocemente possível com o uso do antagonista do receptor de bradicinina, o icatibanto ou o concentrado de C1-inibidor. É necessário estabeler um plano de ação em caso de crises para todos os pacientes. A profilaxia de longo prazo dos sintomas deve ser realizada preferencialmente com medicamentos de primeira linha, como concentrado do C1-inibidor ou o anticorpo monoclonal anti-calicreína, lanadelumabe. Como segunda linha de tratamento temos os andrógenos atenuados. Na profilaxia de curto prazo, antes de procedimentos que podem desencadear crises, o uso do concentrado de C1-inibidor é preconizado. Existem algumas restrições para uso desses tratamentos em crianças e gestantes que devem ser consideradas. Novos medicamentos baseados nos avanços do conhecimento da fisiopatologia do angioedema hereditário estão em desenvolvimento, devendo melhorar a qualidade de vida dos pacientes. O uso de ferramentas padronizadas para monitorização da qualidade de vida, do controle e da atividade da doença são fundamentais no acompanhamento destes pacientes. A criação de associações de pacientes e familiares de pacientes com angioedema hereditário tem desempenhado um papel muito importante no cuidado destes pacientes no nosso país.
The treatment of hereditary angioedema begins with the education of patients and their families about the disease, as it is essential to know the unpredictability of attacks as well as their triggering factors. Drug treatment is divided into attack therapy and prophylaxis of clinical manifestations. Attacks should be treated as early as possible with the bradykinin receptor antagonist icatibant or C1-inhibitor concentrate. An action plan needs to be established for all patients with attacks. Long-term prophylaxis of symptoms should preferably be performed with first-line drugs such as C1-inhibitor concentrate or the anti-kallikrein monoclonal antibody lanadelumab. Attenuated androgens are the second line of treatment. In short-term prophylaxis, before procedures that can trigger attacks, the use of C1-inhibitor concentrate is recommended. There are some restrictions for the use of these treatments in children and pregnant women that should be considered. New drugs based on advances in knowledge of the pathophysiology of hereditary angioedema are under development and are expected to improve patient quality of life. The use of standardized tools for monitoring quality of life and controlling disease activity is essential in the follow-up of these patients. The creation of associations of patients and families of patients with hereditary angioedema has played a very important role in the care of these patients in Brazil.
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Humanos , Tratamento Farmacológico , Angioedemas Hereditários , Anticorpos Monoclonais Humanizados , Antagonistas dos Receptores da Bradicinina , Pacientes , Qualidade de Vida , Terapêutica , Bradicinina , Preparações Farmacêuticas , Calicreínas , Medicamentos de ReferênciaRESUMO
Chagas disease (CD), caused by the hemoflagellate protozoan Trypanosoma cruzi, affects more than six million people worldwide and presents an unsatisfactory therapy, based on two nitroderivatives, introduced in clinical medicine for decades. The synthetic peptide, with CTHRSSVVC sequence (PepA), mimics the CD163 and TNF-α tripeptide "RSS" motif and binds to atheromatous plaques in carotid biopsies of human patients, spleen tissues, and a low-density lipoprotein receptor knockout (LDLr-/-) mouse model of atherosclerosis. CD163 receptor is present on monocytes, macrophages, and neutrophils, acting as a regulator of acute-phase processes and modulating aspects of the inflammatory response and the establishment of infections. Due to the potential theranostic role of PepA, our aim was to investigate its effect upon T. cruzi infection in vitro and in vivo. PepA and two other peptides with shuffled sequences were assayed upon different binomials of host cell/parasite, including professional [as peritoneal mouse macrophages (PMM)] and non-professional phagocytes [primary cultures of cardiac cells (CM)], under different protocols. Also, their impact was further addressed in vivo using a mouse model of acute experimental Chagas disease. Our in-vitro findings demonstrate that PepA and PepB (the peptide with random sequence retaining the "RS" sequence) reduced the intracellular parasitism of the PMM but were inactive during the infection of cardiac cells. Another set of in-vitro and in-vivo studies showed that they do not display a trypanocidal effect on bloodstream trypomastigotes nor exhibit in-vivo efficacy when administered after the parasite inoculation. Our data report the in-vitro activity of PepA and PepB upon the infection of PMM by T. cruzi, possibly triggering the microbicidal arsenal of the host professional phagocytes, capable of controlling parasitic invasion and proliferation.
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Doença de Chagas , Trypanosoma cruzi , Doença de Chagas/parasitologia , Humanos , Macrófagos Peritoneais/parasitologia , Modelos Teóricos , Peptídeos/metabolismo , Peptídeos/farmacologia , Trypanosoma cruzi/metabolismoRESUMO
The present study aimed at analyzing the serum levels of mannose-binding lectin (MBL) and ficolin-3 (FCN3) in leprosy patients and their healthy family contacts in a hyperendemic region in northeastern Brazil. A cross-sectional study was carried out with 90 patients who had been diagnosed with leprosy and 79 healthy family contacts. Serum levels of the MBL and FCN3 proteins were measured using the immunofluorometric assay (ELISA). Clinical information was determined from the patients' charts. It was observed that the leprosy patients were more likely to be male (OR = 2.17; p = 0.01) and younger than fifteen years of age (OR = 2.01; p = 0.03) when compared to the family contacts. Those under 15 years of age had higher levels of MBL (4455 ng/mL) than those over 15 years of age (2342 ng/mL; p = 0.018). Higher FCN3 levels were identified in patients with indeterminate leprosy (41.9 µg/mL) compared to those with the lepromatous form (34.3 µg/mL; p = 0.033) and in those with no physical disabilities (38.1 µg/mL) compared to those with some disability (p = 0.031). Higher FCN3 levels were also observed in the group of patients without leprosy reactions (37.4 µg/mL) compared to those with type 1 (33.7 µg/mL) and type 2 (36.1 µg/mL) reactions. The MBL levels were higher in children under 15 years of age than they were in adults. It was evidenced that higher FCN3 serum levels were associated with early and transient clinical forms and lower expression in severe forms of leprosy.
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INTRODUCTION: Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a rare autosomal dominant disease. Although the first symptoms can appear in childhood, the diagnosis's delay has a strong impact on the patient's quality of life. We analyzed clinical and laboratory characteristics and the drug therapy of pediatric patients with HAE in Brazil. METHODS: Medical records from 18 reference centers of HAE patients under 18 years of age were evaluated after confirmed diagnosis was performed by quantitative and/or functional C1-INH. RESULTS: A total of 95 participants (51 M:44 F; mean age: 7 years old) out of 17 centers were included; 15 asymptomatic cases were identified through family history and genetic screening. Angioedema attacks affected the extremities (73.5%), gastrointestinal tract (57%), face (50%), lips (42.5%), eyelids (23.7%), genitals (23.7%), upper airways (10%), and tongue (6.3%). Family history was present in 84% of patients, and the mean delay in the diagnosis was 3.9 years. Long-term prophylaxis (51/80) was performed with tranexamic acid (39/80) and androgens (13/80); and short-term prophylaxis (9/80) was performed with tranexamic acid (6/80) and danazol (3/80). On-demand therapy (35/80) was prescribed: icatibant in 7/35, fresh frozen plasma in 16/35, C1-INH plasma-derived in 11/35, and tranexamic acid in 12/35 patients. CONCLUSIONS: This is the first study on HAE pediatric patients in Latin America. Clinical manifestations were similar to adults. Drugs such as androgens and tranexamic acid were indicated off-label, probably due to restricted access to specific drugs. Educational programs should address pediatricians to reduce late diagnosis and tailored child therapy.
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Angioedemas Hereditários/epidemiologia , Adolescente , Anafilaxia/etiologia , Angioedemas Hereditários/diagnóstico , Angioedemas Hereditários/terapia , Brasil/epidemiologia , Criança , Pré-Escolar , Diagnóstico Tardio , Gerenciamento Clínico , Feminino , Seguimentos , Humanos , Masculino , Vigilância em Saúde Pública , Qualidade de VidaRESUMO
Background: NADPH-oxidase and myeloperoxidase (MPO) play an important role on defense against pathogenic microorganisms. Defects on these mechanisms have been described in association with recurrent infections due to such as Staphylococcus aureus and Candida albicans. We describe a patient with partial disturbance of intracellular microorganism destruction clinically manifested by recurrent fungal infection. Case report and results: A 58-year-old male rural farmer has suffered with superficial mycosis affecting hands, nails and right ankle persisting for 20 years. He was treated with several antifungal drugs with no improvement. Mycological scraping isolated Trichophyton rubrum. Immunological evaluation showed impaired T cell proliferation to Candidin and impaired neutrophil burst oxidative after specific stimulation with Candida albicans. The patient's DNA was extracted from peripheral blood leukocytes for whole exome sequencing (WES) analysis. Two heterozygous variants of undetermined significance were screened accordingly: (1) MPO A332V (c.995G>A; rs28730837); and (2) NCF1 G83R (c.247G>A; rs139225348). Conclusions: Functional leukocyte evaluation with heterozygous variants in MPO and NCF1 suggest that these defects were associated with the susceptibility to dermatophytosis in our patient. We have developed a fast, effective and safe trial for screening individuals with yeast infections.
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Abdominal pain due to intestinal swellings is one of the most common manifestations in hereditary angioedema (HAE). Bowel swellings can cause severe abdominal pain, nausea, vomiting, and diarrhea, which may lead to misdiagnosis of gastrointestinal disorders. In rare cases, HAE abdominal attacks can be accompanied by acute pancreatitis. Here, we report 3 patients with HAE and acute pancreatitis and present a literature review of similar cases. Patients with confirmed diagnosis of HAE secondary to C1-inhibitor (C1-INH) deficiency (n = 2) and HAE with normal C1-INH and F12 mutation (F12-HAE) (n = 1) were included. Pancreatitis was diagnosed based on clinical symptoms and high lipase and amylase levels. Three HAE patients were diagnosed with acute pancreatitis based on increased amylase levels during severe abdominal swelling episodes. Two were previously diagnosed with HAE type I and one with F12-HAE. Pancreatitis was efficiently treated in two patients using Icatibant, with pain relief within hours. When conservatively treated, pancreatitis pain took longer time to resolve. Eighteen pancreatitis cases in HAE with C1-INH deficiency were previously reported and none in F12-HAE. Most patients (12/18) underwent invasive procedures and/or diagnostic methods. Although rare, severe abdominal HAE attacks could cause pancreatitis; HAE-specific treatments may be efficient for HAE-associated pancreatitis. HAE should be considered as a differential diagnosis of acute idiopathic pancreatitis. To our knowledge, this is the first report of HAE-associated pancreatitis in a F12-HAE patient treated with Icatibant.
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Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the "Associação Brasileira de Alergia e Imunologia (ASBAI)" and the "Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)" has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.
Assuntos
Angioedemas Hereditários/diagnóstico , Angioedemas Hereditários/classificação , Angioedemas Hereditários/fisiopatologia , Brasil , Proteína Inibidora do Complemento C1/análise , Complemento C4/análise , Diagnóstico Diferencial , HumanosRESUMO
BACKGROUND: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare condition with clinical features similar to those of HAE with C1-INH deficiency. Mutations in the F12 gene have been identified in subsets of patients with HAE with normal C1-INH, mostly within families of European descent. OBJECTIVES: Our aim was to describe clinical characteristics observed in Brazilians from 42 families with HAE and F12 gene mutations (FXII-HAE), and to compare these findings with those from other populations. METHODS: We evaluated a group of 195 individuals, which included 102 patients clinically diagnosed with FXII-HAE and their 93 asymptomatic relatives. RESULTS: Genetic analysis revealed that of the 195 subjects, 134 individuals (77.6% females) carried a pathogenic mutation in F12. The T328K substitution was found in 132 individuals, and the c.971_1018+24del72 deletion was found in 2 patients. The mean age at onset of symptoms in patients with FXII-HAE was 21.1 years. The most common symptoms were subcutaneous edema (85.8% of patients), abdominal pain attacks (69.7%), and upper airway edema (32.3%). Of male individuals carrying F12 mutations, 53.3% (16 of 30) were symptomatic. Compared with reports from Europe, fewer female patients (68.6%) reported an influence of estrogen on symptoms. CONCLUSIONS: Our study included a large number of patients with FXII-HAE, and, as the first such study conducted in a South American population, it highlighted significant differences between this and other study populations. The high number of symptomatic males and patients with estrogen-independent FXII-HAE found here suggests that male sex and the absence of a hormonal influence should not discourage clinicians from searching for F12 mutations in cases of HAE with normal C1-INH.
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Angioedemas Hereditários/genética , Fator XII/genética , Adolescente , Adulto , Idoso , Angioedemas Hereditários/sangue , Brasil , Criança , Pré-Escolar , Proteína Inibidora do Complemento C1/análise , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Adulto JovemRESUMO
Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the "Associação Brasileira de Alergia e Imunologia (ASBAI)" and the "Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)" has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.
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Humanos , Angioedemas Hereditários/diagnóstico , Brasil , Complemento C4/análise , Diagnóstico Diferencial , Proteína Inibidora do Complemento C1/análise , Angioedemas Hereditários/classificação , Angioedemas Hereditários/fisiopatologiaRESUMO
O angioedema hereditário é uma doença autossômica dominante caracterizada por crises de edema com o envolvimento de múltiplos órgãos. A doença é desconhecida por muitos profissionais da área da saúde e, portanto, subdiagnosticada. Os pacientes que não são diagnosticados e tratados adequadamente têm uma mortalidade estimada de 25% a 40%, devido ao angioedema da laringe, resultando em asfixia. O angioedema de alças intestinais é outra manifestação importante e incapacitante, que pode ser a principal ou a única durante uma crise da doença. Neste cenário, um grupo de especialistas da Associação Brasileira de Alergia e Imunologia (ASBAI) e do Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) atualizou as diretrizes para o diagnóstico e terapia do angioedema hereditário.
Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40%, due to laryngeal angioedema, which results in asphyxia. Angioedema affecting bowel loops is another important, incapacitating presentation that may be the main or only manifestation during a crisis. In this scenario, a group of experts affiliated with Associação Brasileira de Alergia e Imunologia (ASBAI) and Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH) has updated the guidelines for the diagnosis and treatment of hereditary angioedema.
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Humanos , Masculino , Feminino , História do Século XXI , Guias como Assunto , Alergia e Imunologia , Angioedemas Hereditários/tratamento farmacológico , Terapêutica , Diagnóstico , Angioedema Hereditário Tipos I e IIRESUMO
The purpose of our work was to select phages displaying peptides capable of binding to vascular markers present in human atheroma, and validate their capacity to target the vascular markers in vitro and in low-density lipoprotein receptor knockout (LDLr(-/-)) mouse model of atherosclerosis. By peptide fingerprinting on human atherosclerotic tissues, we selected and isolated four different peptides sequences, which bind to atherosclerotic lesions and share significant similarity to known human proteins with prominent roles in atherosclerosis. The CTHRSSVVC-phage peptide displayed the strongest reactivity with human carotid atherosclerotic lesions (p < 0.05), when compared to tissues from normal carotid arteries. This peptide sequence shares similarity to a sequence present in the fifth scavenger receptor cysteine-rich (SRCR) domain of CD163, which appeared to bind to CD163, and subsequently, was internalized by macrophages. Moreover, the CTHRSSVVC-phage targets atherosclerotic lesions of a low-density lipoprotein receptor knockout (LDLr(-/-)) mouse model of atherosclerosis in vivo to High-Fat diet group versus Control group. Tetraazacyclododecane-1,4,7,10-tetraacetic acid-CTHRSSVVC peptide (DOTA-CTHRSSVVC) was synthesized and labeled with (111)InCl3 in >95% yield as determined by high performance liquid chromatography (HPLC), to validate the binding of the peptide in atherosclerotic plaque specimens. The results supported our hypothesis that CTHRSSVVC peptide has a remarkable sequence for the development of theranostics approaches in the treatment of atherosclerosis and other diseases.
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Aterosclerose/diagnóstico , Imagem Molecular/métodos , Peptídeos/metabolismo , Animais , Antígenos CD/química , Antígenos de Diferenciação Mielomonocítica/química , Aterosclerose/metabolismo , Modelos Animais de Doenças , Macrófagos/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Peptídeos/química , Receptores de Superfície Celular/química , Receptores de LDL/deficiência , Receptores de LDL/genéticaRESUMO
In ascending aorta aneurysms and dissections, the extracellular matrix is degraded. Transforming growth factor (TGF)-ß1 modulates its synthesis. The production and presence of SMADs, intracellular effectors of TGF-ß1 signaling, were analyzed in patients with these diseases. To verify whether medial cells are lost, their total numbers were computed. Ascending aorta samples from 19 patients and 18 controls underwent immunoperoxidase reactions to SMADs 2, 3, 4, and 7. Positive and negative cells were counted, and total numbers of cells and positive/total ratios were calculated. Samples from other 14 patients and 7 normal controls were used for the quantification of SMAD3, SMAD4, and SMAD7 mRNA. For SMAD4, both mRNA (2.36 vs. 0.37, P=.03) and ratio of positive cells (0.94 vs. 0.73, P=.02) are increased in patients with ascending aortic diseases. SMAD3 mRNA was also increased (1.19 vs. 0.20, P=.05). The cell ratios of this and the other SMADs, SMAD7 mRNA, and the total cell count did not differ between groups. In conclusion, in ascending aortic aneurysms and dissections, there is an increase in SMAD4, implicated in extracellular matrix production, possibly as an attempt to compensate for extracellular matrix deficiency. Lost medial cells are replaced, since their number is not diminished.
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Aneurisma Aórtico/metabolismo , Aneurisma Aórtico/patologia , Dissecção Aórtica/metabolismo , Dissecção Aórtica/patologia , Proteínas Smad/biossíntese , Idoso , Aorta/metabolismo , Aorta/patologia , Matriz Extracelular/metabolismo , Matriz Extracelular/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Proteínas Smad/análise , Fator de Crescimento Transformador beta1/metabolismoRESUMO
Hereditary angioedema (HAE) is accompanied by an overproduction of bradykinin (BK) as the primary mediator of swelling. Although many proteins may be involved in regulating the wide spectrum of HAE symptoms, most studies have only focused on C1-INH and FXII. For the first time, a next generation sequencing (NGS) method was applied to develop a robust, time- and cost-effective diagnostic and research tool to analyze selected genes related to HAE. The entire coding region and the exon-intron boundaries of 15 genes from 23 subjects of a Brazilian family, nine of whom were symptomatic, were analyzed by NGS. One new mutation found uniquely in the nine symptomatic patients, p.Ala457Pro in the SERPING1 gene, was estimated as likely to be pathogenic (PolyPhen-2 software analysis) and is the main candidate to be responsible for HAE in these patients. Alterations identified in a few asymptomatic individuals but also found in almost all symptomatic patients, such as p.Ile197Met (HMWK), p.Glu298Asp (NOS3) and p.Gly354Glu (B2R), may also be involved in modulating patient-specific symptoms. This NGS gene panel has proven to be a valuable tool for a quick and accurate molecular diagnosis of HAE and efficient to indicate modulators of HAE symptoms.
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Angioedemas Hereditários/genética , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Adulto , Angioedemas Hereditários/sangue , Angioedemas Hereditários/diagnóstico , Brasil , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Deep dermatophytosis has been described in HIV and immunosuppressed patients. Recently, CARD9 (caspase recruitment domain-containing protein 9) deficiency has been reported in individuals with deep dermatophytosis previously classified as "immunocompetent". We report a 24-year-old Brazilian male patient with deep dermatophytosis born to an apparently non-consanguineous family. The symptoms started with oral candidiasis when he was 3 years old, persistent although treated. At 11 years old, well delimited, desquamative and pruriginous skin lesions appeared in the mandibular area; ketoconazole and itraconazole were introduced and maintained for 5 years. At 12 years of age, the lesions, which initially affected the face, started to spread to thoracic and back of the body (15 cm of diameter) and became ulcerative, secretive and painful. Terbinafine was introduced without any improvement. Trichophyton mentagrophytes was isolated from the skin lesions. A novel homozygous mutation in CARD9 (R101L) was identified in the patient, resulting in impaired neutrophil fungal killing. Both parents, one brother (with persistent superficial but not deep dermatophytosis) and one sister were heterozygous for this mutation, while another brother was found to be homozygous for the CARD9 wild-type allele. This is the first report of CARD9 deficiency in Latin America.
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Proteínas Adaptadoras de Sinalização CARD/genética , Candidíase Bucal/diagnóstico , Neutrófilos/fisiologia , Pele/patologia , Tinha/diagnóstico , Adulto , Brasil , Proteínas Adaptadoras de Sinalização CARD/isolamento & purificação , Candidíase Bucal/genética , Criança , Pré-Escolar , Citotoxicidade Imunológica/genética , Feminino , Predisposição Genética para Doença , Homozigoto , Humanos , Masculino , Neutrófilos/microbiologia , Linhagem , Deleção de Sequência/genética , Pele/microbiologia , Tinha/genética , Adulto JovemRESUMO
O Brasil destaca-se como um dos maiores produtores mundiais de soja transgênica, sendo sua produção estendida principalmente a regiões com solos salinos, onde há acúmulo de sais que interferem na germinação da semente e no desenvolvimento das plântulas. O objetivo da pesquisa foi avaliar o efeito do estresse salino sobre a germinação e o desenvolvimento inicial de plântulas de soja convencional e sua derivada transgênica Roundup Ready (RR), submetidas a diferentes condições de salinidade. Para tanto, utilizaram-se dois lotes de sementes de soja (CD 206 e CD 206 RR), sendo que os tratamentos constaram dos seguintes níveis de NaCl: zero; 5; 15; 30; 60 e 120mmol L-1. A avaliação da qualidade fisiológica das sementes foi obtida pelos testes de germinação, comprimento de raiz e plântulas, massa seca de plântulas e volume radicular. O estresse salino reduz a germinação das sementes de ambos os genótipos, sendo que o desenvolvimento de plântulas do genótipo transgênico RR é menos sensível em condições de maior salinidade (60 a 120mmol L-1 de NaCl).
Brazil stands out as the largest worldwide producer of transgenic soybeans and has extended its production mainly to regions with saline soils, where there is accumulation of salts that interferes in seed germination and seedling development. The object of this research was to evaluate the effect of saline stress on the germination and initial development of soybean conventional seedling and its transgenic derivatives Roundup Ready (RR) submitted to different salinity conditions. For that purpose two lots of soybean seeds were used (CD 206 and CD 206 RR), the treatments consisted of the following levels of NaCl: 0, 5, 15, 30, 60 and 120mmol L-1. The evaluation of physiological seed quality was obtained by germination test, root and seedling length, seedling dry mass and volume of roots. The salt stress reduced germination of seeds of both genotypes, and the development of seedling of genotype transgenic RR is less sensitive in conditions of greater salinity (60 to 120mmol L-1 of NaCl).
RESUMO
Procurou-se discutir sobre interlocuções entre a Política Nacional de Humanização da Atenção e Gestão do Sistema Único de Saúde PNH / SUS e a Reforma Psiquiátrica, em especial, a Política de Saúde Mental de Belo Horizonte, agraciada em 2004, pelo Ministério da Saúde, com o Prêmio HumanizaSUS Davi Capistrano Filho, quando destacou-se do conjunto dos trabalhos premiados por ser entre tantos centenas de exitosas práticas de Humanização do SUS - aquela que inscrevia a experiência de desconstrução do manicômio no contexto da construção do SUS. Na abordagem dos 20 anos de história da Política de Saúde Mental de Belo Horizonte enfatizou-se o colorido próprio dado pela Saúde Mental à Política de Humanização, ou como esta é matizada no fazer da clínica antimanicomial. Procurou-se problematizar o cenário atual de elaboração de políticas públicas sobre drogas, propondo reflexões sobre loucura e drogadição como experiências eminentemente humanas.(AU)
We attempted to discuss dialogues between the National Humanization Policy upon Care and Management of the Unique Health Sistem SUS - and Psychiatric Reform, particularly the Mental Health Policy in Belo Horizonte, awarded with the Prize HumanizaSUS David Capistrano Filho in 2004 by the Ministry of Health, when it was featured from all the winning entries, being the only one which has inscribed the deconstruction asylum experience in the context of SUS construction among hundreds of others successful SUS Human Care practices. By the approaching of the 20 years of Belo Horizonte Mental Health Policy history, it was emphasized the singular Mental Health coloring given to the politics of Humanization, or even how it is nuanced in the deeds of anti-asylum clinic. We also attempted to discuss the current status of public policies development on drugs, offering reflections upon madness and drug addiction as eminently human experiences.(AU)
Tratamos de discutir los diálogos entre la Política Nacional de Humanización de Atención y Gestión del Sistema Universal de Salud - SUS y de la Reforma Psiquiátrica, en particular, la Política de Salud Mental en Belo Horizonte, otorgado en 2004 por el Ministerio de Salud, Premio HumanizaSUS David Capistrano Filho, cuando se destacó entre todos los ganadores de estar entre tantos - cientos de exitosas prácticas de humanizacion del SUS - uno que inscribe la experiencia de deconstrucción del asilo en el contexto de la construcción del SUS. Al abordar la historia de 20 años de Políticas de Salud Mental de Belo Horizonte, fue destacado por el color propio dado por La Política de Salud Mental de Humanización, o como es matizada en la toma de antimanicomial clínica. Tratamos de analizar el estado actual de desarrollo de las políticas públicas en materia de drogas, ofreciendo reflexiones sobre la locura y la adicción a las drogas como experiencias eminentemente humanas.(AU)
RESUMO
The Melaleuca alternifolia is a Myrtaceae tree of great medicinal importance. Its essential oil is widely used both in human and in veterinary medicine, having great antiseptic power. It is a difficult plant in the process of rooting cuttings. This study aimed to evaluate the efficacy of different concentrations of NAA and IBA on the rooting of M. alternifolia. Melaleuca cuttings with 10 cm in length were submitted to treatments with two regulators, NAA and IBA, in the following concentrations: 0 (control), 1000, 2000 and 4000 mg L-1. Evaluation occurred at 97 days throughout the live and dead cuttings rooted, medium length, volume and mass of roots. The growth regulator NAA at a concentration of 4000 mg L-1 showed to be phytotoxic to the cuttings of melaleuca; the use of IBA in comparable with NAA at concentration of 4000 mg L-1 provided a higher percentage of rooting and root length increases.
A Melaleuca alternifolia é uma árvore da família Myrtaceae, de grande importância medicinal. Seu óleo essencial é muito utilizado tanto na medicina humana quanto na medicina veterinária, tendo grande poder antiséptico. É uma planta de difícil enraizamento no processo de estaquia. Assim, o presente trabalho teve como objetivo avaliar a eficiência de diferentes concentrações de ANA e AIB, no enraizamento de estacas de M. alternifolia. Foram utilizadas estacas com 10 cm de comprimento, submetidas ao tratamento para enraizamento com dois reguladores vegetais ANA e AIB, nas seguintes concentrações: 0 (testemunha); 1000; 2000 e 4000 mg L-1. Aos 97 dias foram avaliados a porcentagem de estacas enraizadas, vivas e mortas, o comprimento, o volume e a massa seca de raízes. O regulador vegetal ANA na concentração de 4000 mg L-1 demonstrou ser fitotóxico para as estacas de melaleuca e o uso de AIB em relação ao ANA, na concentração de 4000 mg L-1, proporcionou maior porcentagem de estacas enraizadas e maior comprimento radicial.
RESUMO
Brazil stands out as the largest worldwide producer of transgenic soybeans and has extended its production mainly to regions with saline soils, where there is accumulation of salts that interferes in seed germination and seedling development. The object of this research was to evaluate the effect of saline stress on the germination and initial development of soybean conventional seedling and its transgenic derivatives Roundup Ready (RR) submitted to different salinity conditions. For that purpose two lots of soybean seeds were used (CD 206 and CD 206 RR), the treatments consisted of the following levels of NaCl: 0, 5, 15, 30, 60 and 120mmol L-1. The evaluation of physiological seed quality was obtained by germination test, root and seedling length, seedling dry mass and volume of roots. The salt stress reduced germination of seeds of both genotypes, and the development of seedling of genotype transgenic RR is less sensitive in conditions of greater salinity (60 to 120mmol L-1 of NaCl).
O Brasil destaca-se como um dos maiores produtores mundiais de soja transgênica, sendo sua produção estendida principalmente a regiões com solos salinos, onde há acúmulo de sais que interferem na germinação da semente e no desenvolvimento das plântulas. O objetivo da pesquisa foi avaliar o efeito do estresse salino sobre a germinação e o desenvolvimento inicial de plântulas de soja convencional e sua derivada transgênica Roundup Ready (RR), submetidas a diferentes condições de salinidade. Para tanto, utilizaram-se dois lotes de sementes de soja (CD 206 e CD 206 RR), sendo que os tratamentos constaram dos seguintes níveis de NaCl: zero; 5; 15; 30; 60 e 120mmol L-1. A avaliação da qualidade fisiológica das sementes foi obtida pelos testes de germinação, comprimento de raiz e plântulas, massa seca de plântulas e volume radicular. O estresse salino reduz a germinação das sementes de ambos os genótipos, sendo que o desenvolvimento de plântulas do genótipo transgênico RR é menos sensível em condições de maior salinidade (60 a 120mmol L-1 de NaCl).