Phylodynamics of avian influenza A(H5N1) viruses from outbreaks in Brazil.

Our study identified strains of the A/H5N1 virus in analyzed samples of subsistence poultry, wild birds, and mammals, belonging to clade 2.3.4.4b, genotype B3.2, with very high genetic similarity to strains from Chile, Uruguay, and Argentina. This suggests a migratory route for wild birds across the Pacific, explaining the phylogenetic relatedness. The Brazilian samples displayed similarity to strains that had already been previously detected in South America. Phylogeographic analysis suggests transmission of US viruses from Europe and Asia, co-circulating with other lineages in the American continent. As mutations can influence virulence and host specificity, genomic surveillance is essential to detect those changes, especially in critical regions, such as hot spots in the HA, NA, and PB2 sequences. Mutations in the PB2 gene (D701N and Q591K) associated with adaptation and transmission in mammals were detected suggesting a potential zoonotic risk. Nonetheless, resistance to neuraminidase inhibitors (NAIs) was not identified, however, continued surveillance is crucial to detect potential resistance. Our study also mapped the spread of the virus in the Southern hemisphere, identifying possible entry routes and highlighting the importance of surveillance to prevent outbreaks and protect both human and animal populations.

Anti-inflammatory role of APRIL by modulating regulatory B cells in antigen-induced arthritis.

APRIL (A Proliferation-Inducing Ligand), a member of the TNF superfamily, was initially described for its ability to promote proliferation of tumor cells in vitro. Moreover, this cytokine has been related to the pathogenesis of different chronic inflammatory diseases, such as rheumatoid arthritis. This study aimed to evaluate the ability of APRIL in regulating B cell-mediated immune response in the antigen-induced arthritis (AIA) model in mice. AIA was induced in previously immunized APRIL-transgenic (Tg) mice and their littermates by administration of antigen (mBSA) into the knee joints. Different inflammatory cell populations in spleen and draining lymph nodes were analyzed using flow cytometry and the assay was performed in the acute and chronic phases of the disease, while cytokine levels were assessed by ELISA. In the acute AIA, APRIL-Tg mice developed a less severe condition and a smaller inflammatory infiltrate in articular tissues when compared with their littermates. We also observed that the total cellularity of draining lymph nodes was decreased in APRIL-Tg mice. Flow cytometry analysis revealed an increase of CD19+IgM+CD5+ cell population in draining lymph nodes and an increase of CD19+CD21hiCD23hi (B regulatory) cells in APRIL-Tg mice with arthritis as well as an increase of IL-10 and CXCL13 production in vitro.

Genetic Ablation and Pharmacological Blockade of Bradykinin B1 Receptor Unveiled a Detrimental Role for the Kinin System in Chagas Disease Cardiomyopathy.

Chagas disease, the parasitic infection caused by Trypanosoma cruzi, afflicts about 6 million people in Latin America. Here, we investigated the hypothesis that T. cruzi may fuel heart parasitism by activating B1R, a G protein-coupled (brady) kinin receptor whose expression is upregulated in inflamed tissues. Studies in WT and B1R-/- mice showed that T. cruzi DNA levels (15 days post infection-dpi) were sharply reduced in the transgenic heart. FACS analysis revealed that frequencies of proinflammatory neutrophils and monocytes were diminished in B1R-/- hearts whereas CK-MB activity (60 dpi) was exclusively detected in B1R+/+ sera. Since chronic myocarditis and heart fibrosis (90 dpi) were markedly attenuated in the transgenic mice, we sought to determine whether a pharmacological blockade of the des-Arg9-bradykinin (DABK)/B1R pathway might alleviate chagasic cardiomyopathy. Using C57BL/6 mice acutely infected by a myotropic T. cruzi strain (Colombian), we found that daily treatment (15-60 dpi) with R-954 (B1R antagonist) reduced heart parasitism and blunted cardiac injury. Extending R-954 treatment to the chronic phase (120-160 dpi), we verified that B1R targeting (i) decreased mortality indexes, (ii) mitigated chronic myocarditis, and (iii) ameliorated heart conduction disturbances. Collectively, our study suggests that a pharmacological blockade of the proinflammatory KKS/DABK/B1R pathway is cardioprotective in acute and chronic Chagas disease.

Genetic differentiation of Megalocytivirus by real time PCR and sequencing.

BACKGROUND: Megalocytiviruses (MCV) are double-stranded DNA viruses that infect fish. Two species within the genus are epidemiologically important for fish farming: red sea bream iridovirus (RSIV) and infectious spleen and kidney necrosis virus (ISKNV). The objective of this work was to study regions that allow the differentiation and correct diagnosis of RSIV and ISKNV. METHODS: The regions ORF450L, ORF342L, ORF077, and the intergenic region between ORF37 and ORF42R were sequenced and compared with samples from the database. RESULTS: The tree constructed using the sequencing of the PCR product Megalocytivirus. ORF077 separated the three major clades of MCV. RISV genotypes were well divided, but not ISKNV. All qPCRs tests showed acceptable repeatability values, that is, less than 5%. CONCLUSION: Two qPCRs for ISKNV detection and two for RSIV were considered suitable for use in the diagnosis and typing of MCV. The results of this study demonstrate the importance of an accurate evaluation of methodologies for the differentiation of MCV.

First evidence of a serine arginine protein kinase (SRPK) in leishmania braziliensis and its potential as therapeutic target.

Leishmaniasis is a parasitic disease found in tropical and subtropical regions around the world, caused by parasites of the genus Leishmania. The disease is a public health concern and presents clinical manifestations that can cause death, disability, and mutilation. The parasite has promastigote (vector) and amastigote (vertebrate host) forms and kinase enzymes are involved in this differentiation process. In the present investigation, we show, for the first time, evidence of a serine/arginine protein kinase in Leshmania braziliensis (LbSRPK). Our results show that amastigotes express more LbSRPK than promastigotes.  Analogues of SRPIN340 (a known inhibitor of SRPK) were evaluated for their leishmanicidal activity and two of them, namely SRVIC22 and SRVIC32 showed important leishmanicidal activity in vitro. SRVIC22 and SRVIC32 were able to reduce the infection rate in macrophages and the number of intracellular amastigotes by 55 and 60%, respectively. Bioinformatics analysis revealed the existence of two different amino acid residues in the active site of LbSRPK compared to their human homologue (Tyr/Leu-and Ser/Tyr), which could explain the absence of leishmanicidal activity of SRPIN340 on infected macrophages. In order to enhance leishmanicidal activity of the analogues, optimizations were proposed in the structures of the ligands, suggesting strong interactions with the catalytic site of LbSRPK. Although the evidence on the action of inhibitors upon LbSRPK is only indirect, our studies not only reveal, for the first time, evidence of a SRPK in Leishmania, but also shed light on a new therapeutic target for drug development.

SCAF4-related syndromic intellectual disability.

The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. We performed exome sequencing in a 16-year-old Brazilian male presenting with ID, epilepsy, behavioral problems, speech impairment, facial dysmorphisms, heart malformations, and obesity. A de novo pathogenic variant [SCAF4(NM_020706.2):c.374_375dup(p.Glu126LeufsTer20)] was identified. This is the second study reporting the involvement of SCAF4 in syndromic ID, and the description of the patient's clinical features contributes to defining the phenotypic spectrum of this recently described Mendelian disorder.

Cytotoxic and Phytotoxic Activities of Native Brazilian Forest Gabiroba (Campomanesia xanthocarpa Berg.), Fruits, and Flour against Shrimp (Artemia salina L.) and Lettuce (Lactuca sativa L.).

Gabiroba, a native fruit in Brazil's Atlantic Forest region, has significant nutritional and therapeutic properties. However, due to its seasonality, consumption by the population is limited. Thus, the development of gabiroba byproducts would add significant value to the food and therapeutic industries. Therefore, it is essential to study and support the lack of toxicity of gabiroba fruit extracts. In the present study, physicochemical analyses of fresh fruits (GF) and dehydrated whole gabiroba flour (WGF) and preliminary toxicity analyses of WGF were performed. The toxicity results showed a microcrustacean LC50 of >1000 mg/mL when exposed to WGF extracts at various concentrations (10-1000 µg/mL; p = 0.062) using the Artemia salina method, with no evidence observed of proliferative activity or toxic metabolic compounds in the WGF extract. The phytotoxicity of WGF using Lactuca sativa L. allowed germination and root growth at various concentrations of WGF extract, with the lowest (100 µg/mL) and highest (1000 µg/mL) concentrations exhibiting 98.3% and 100% seed germination, respectively. In conclusion, these results indicate that the WGF preparation preserved the nutritional and antioxidant potential of gabiroba fruits and that WGF is safe for use as a raw material in the food industry and for therapeutic purposes.

Perceptions of Siblings of People with Trisomy 21 on Family Relationships / Percepções de Irmãos de Pessoas com Trissomia 21 sobre as Relações Familiares

ABSTRACT: The birth of a child with a disability brings implications, changes in the environment and family dynamics. The family goes through a process of overcoming until the child acceptance with disability and the establishment of a suitable family environment that includes and meets his/her needs. Trisomy 21 (T21) is the most frequent genetic anomaly among those diagnosed. This study aimed to identify the perception of a sibling group of people with T21 regarding their family and social relationships. The sample consisted of 18 adolescents aged between 11 and 16 years, siblings of people with T21, and 17 guardians. Data collection occurred through semi-structured interviews conducted by video calls, with an average duration of 10 to 15 minutes. The interviews were recorded, transcribed and analyzed qualitatively based on the creation of thematic nuclei and categories. The results reinforce the importance of family relationships as a security factor and acceptance of the siblings' needs.

RESUMO: O nascimento de uma criança com deficiência traz implicações, mudanças no ambiente e na dinâmica familiar como um todo. A família passa por um processo de superação até a aceitação da criança com deficiência e a instalação de um ambiente familiar propício que a inclua e atenda às suas necessidades. A trissomia 21 (T21) é a anomalia genética mais frequente dentre as diagnosticadas. Este estudo teve como objetivo conhecer a percepção de um grupo de irmãos de pessoas com T21 quanto às suas relações familiares e sociais. A amostra foi composta por 18 adolescentes com idades entre 11 e 16 anos, irmãos de pessoas com T21 e 17 responsáveis. A coleta de dados ocorreu por meio de entrevista semiestruturada realizadas por meio de chamada de vídeo, com duração média de dez a 15 minutos. As entrevistas foram gravadas, transcritas e analisadas qualitativamente a partir da criação de núcleos temáticos e categorias. Os resultados reforçam a importância das relações familiares como um fator segurança e acolhimento das necessidades dos irmãos.

Síndrome de Turner / Turner's Syndrome / Sindrome de Turner

Introducción: el síndrome de Turner es una enfermedad genética caracterizada por la pérdida total o parcial de un cromosoma X, siendo sus características fundamentales la talla baja, la disgenesia gonadal y hallazgos fenotípicos característicos. Tiene una amplia variabilidad en su forma de presentación. Grandes estudios epidemiológicos muestran que la morbilidad aumenta en mujeres con este síndrome, debido a una amplia gama de enfermedades asociadas, sobre todo cardiovasculares, que eleva la mortalidad de manera significativa. Objetivo: realizar una revisión de la literatura, en base a la presentación de un caso clínico, para recabar información sobre las ultimas pautas de manejo y presentar los nuevos objetivos de tratamiento. Conclusiones: el diagnóstico temprano es fundamental, y tiene características propias y criterios de sospecha según la etapa en la que se efectúa, el reto actual en el manejo de estas pacientes consiste en la formación de un equipo médico multidisciplinario, conformado por una amplia gama de especialistas para el adecuado seguimiento, con el fin de disminuir las complicaciones y ayudar a que la paciente alcance sus objetivos para una vida plena. Se presenta el caso de una paciente con síndrome de Turner vista por el equipo médico en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell, Montevideo-Uruguay.

Introduction: Turner's syndrome is a genetic disease characterized by total or partial loss of an X chromosome, its main features being low height, gonadal dysgenesis and characteristic phenotypic findings. It has a wide variability in its form of presentation. Large epidemiological studies show that morbidity increases in women with this syndrome, due to a wide range of associated diseases, especially cardiovascular disease, which significantly raises mortality. Objectives: to carry out a review of the literature, based on a clinical case in order to gather information regarding the latest treatment guidelines and present the new treatment goals. Conclusions: early diagnosis is essential, and has its own characteristics and suspicion criteria according to the stage in which it is carried out. The present challenge regarding the management of these patients consists of the training of a multidisciplinary medical team made up of a wide range of specialists able to carry out proper follow-up, in order to reduce complications and help the patient live a full life. We present a case of a patient with Turner's syndrome assisted at the Pereira Rossell Hospital Center in Montevideo-Uruguay.

Introdução: a síndrome de Turner é uma doença genética caracterizada pela perda total ou parcial de um cromossomo X, sendo suas características fundamentais de baixa estatura, disgenesia gonadal e achados fenotípicos característicos. Tem uma ampla variabilidade em sua forma de apresentação. Consideráveis (grandes, amplos, extensos) estudos epidemiológicos mostram que a morbidade aumenta em mulheres com essa síndrome, devido a uma ampla gama de doenças associadas, especialmente cardiovasculares, o que aumenta significativamente a mortalidade. Objetivos: realizar uma revisão da literatura, a partir da apresentação de um caso clínico, reunir informações sobre as últimas diretrizes de tratamento e apresentar os novos objetivos do tratamento. Conclusões: o diagnóstico precoce é fundamental, e possui características próprias e critérios de suspeita de acordo com a etapa em que é realizado, o desafio atual na gestão desses pacientes consiste na formação de uma equipe médica multidisciplinar, formada por uma ampla gama de especialistas para o acompanhamento adequado, a fim de reduzir complicações e ajudar a paciente a alcançar uma vida plena. Apresentamos o caso de uma paciente com síndrome de Turner atendido pela equipe médica do Hospital Pediátrico do Centro Hospitalar Pereira Rossell, Montevidéu-Uruguai.

Detection of megalocytivirus in Oreochromis niloticus and Pseudoplatystoma corruscans in Brazil.

The infectious spleen and kidney necrosis virus (ISKNV) belongs to the genus Megalocytivirus (MCV), a group of double-stranded DNA genome viruses. The aim of this study was to retrospectively analyze samples from suspected foci of MCV infection in freshwater fish in Brazil. Samples were collected from infected fish between 2017 and 2021. Phylogenetic analysis revealed 2 groups of MCV circulating in the country. A genetically homogeneous group formed a clade with ISKNV samples from different parts of the world. Only 2 of the sequences from the state of Goiás showed a small genetic distance when compared to the larger group in the same clade. This study describes the validation of 3 qPCR methods and the presence of MCV in Brazil since 2017, including a genotype not previously described.

Sheltered in Stromal Tissue Cells, Trypanosoma cruzi Orchestrates Inflammatory Neovascularization via Activation of the Mast Cell Chymase Pathway.

Microangiopathy may worsen the clinical outcome of Chagas disease. Given the obstacles to investigating the dynamics of inflammation and angiogenesis in heart tissues parasitized by Trypanosoma cruzi, here we used intravital microscopy (IVM) to investigate microcirculatory alterations in the hamster cheek pouch (HCP) infected by green fluorescent protein-expressing T. cruzi (GFP-T. cruzi). IVM performed 3 days post-infection (3 dpi) consistently showed increased baseline levels of plasma extravasation. Illustrating the reciprocal benefits that microvascular leakage brings to the host-parasite relationship, these findings suggest that intracellular amastigotes, acting from inside out, stimulate angiogenesis while enhancing the delivery of plasma-borne nutrients and prosurvival factors to the infection foci. Using a computer-based analysis of images (3 dpi), we found that proangiogenic indexes were positively correlated with transcriptional levels of proinflammatory cytokines (pro-IL1ß and IFN-γ). Intracellular GFP-parasites were targeted by delaying for 24 h the oral administration of the trypanocidal drug benznidazole. A classification algorithm showed that benznidazole (>24 h) blunted angiogenesis (7 dpi) in the HCP. Unbiased proteomics (3 dpi) combined to pharmacological targeting of chymase with two inhibitors (chymostatin and TY-51469) linked T. cruzi-induced neovascularization (7 dpi) to the proangiogenic activity of chymase, a serine protease stored in secretory granules from mast cells.

Dosimetric evaluation for temporomandibular joint cone beam computed tomography exams using different field of view.

Objectives.To optimize the absorbed organ dose in relation to the field of view for temporomandibular joint examinations in four cone beam computed tomography devices.Methods.An anthropomorphic adult head and neck phantom, and 192 LiF dosimeters (TLD-100) were used. The dosimeters were placed in the region corresponding to the lens, parotid glands, submandibular glands, and thyroid. Small, medium and large FOVs were selected on Orthopantomograph OP300 Maxio, PaX-i3D Smart, ORTHOPHOS XG, and i-CAT Next Generation device when it was possible.Results.A wide range of absorbed dose values was recorded for all organs due to the different exposure parameters of each device. The radiosensitive organ with the highest dose was the parotid glands. The devices with 5 × 5 cm FOV recorded a lower dose in this protocol, while for the device without a small FOV (≤5 × 5 cm), the lowest dose was observed with the large FOV (6 × 16 cm).Conclusions.We recommend a double exposure with an FOV of 5 × 5 cm in the OP300 Maxio, PaX-i3D Smart, and ORTHOPHOS XG device, while in the i-CAT Next Generation device, a single exposure FOV of 6 × 16 cm is indicated.

Validation of three qPCR for the detection of Burkholderia mallei in equine tissue samples.

Burkholderia mallei is the causative agent of glanders, a zoonosis listed by the World Organization for Animal Health as of mandatory notification. In this work, a comparison of three qPCR protocols was made, two of them based on articles by other authors and one standardized in house, this last one aiming at a genomic region that does not exist in other species of the Burkholderia genus. All qPCRs showed high efficiency and good repeatability. However, reactions with Cq between 36 and 40 were considered suspicious and unreliable, requiring greater clinical criteria to analyze the results.

Diabetes y enfermedad cardiovascular / Diabetes and cardiovascular disease / Diabetes e doença cardiovascular

La diabetes mellitus es una de las principales causas de morbilidad y mortalidad a nivel mundial. Este grupo de pacientes generalmente representa una población con alto o muy alto riesgo cardiovascular, razón por la cual se realiza una estratificación precoz del riesgo, buscando enfocarse objetivamente en el abordaje farmacológico y no farmacológico con una estrategia intensiva. La enfermedad cardiovascular representa la principal causa de mortalidad, pero en los últimos años se han producido avances en la terapéutica que han demostrado reducir los eventos cardiovasculares mayores. Este artículo revisa la interacción entre diabetes, enfermedades cardiovasculares y su tratamiento.

Diabetes mellitus is one of the main causes of morbidity and mortality worldwide. This group of patients generally represents a population with high or very high cardiovascular risk, that is the reason for an early stratification of risk, seeking to objectively focus on pharmacological and non-pharmacological approach with an intensive strategy. Cardiovascular disease represents the main cause of mortality, but in recent years there have been advances in therapeutics that have been shown to reduce major cardiovascular events. This article reviews the interaction between diabetes, cardiovascular diseases and their treatment.

A diabetes mellitus é uma das principais causas de morbimortalidade em todo o mundo. Esse grupo de pacientes geralmente representa uma população com alto ou muito alto risco cardiovascular, razão pela qual se estratifica precocemente o risco, buscando enfocar objetivamente a abordagem farmacológica e não farmacológica com estratégia intensiva. A doença cardiovascular representa a principal causa de mortalidade, mas nos últimos anos houve avanços na terapêutica que mostraram reduzir os eventos cardiovasculares maiores. Este artigo analisa a interação entre diabetes, doenças cardiovasculares e seu tratamento.

Participatory Genomic Testing Can Effectively Disseminate Cardiovascular Pharmacogenomics Concepts within Federally Qualified Health Centers: A Feasibility Study.

Objective: We assessed feasibility of an educational program designed to enhance stakeholder knowledge and perceptions of pharmacogenomics at a federally qualified health center (FQHC). Design: FQHCs have a rich history of providing care to the underserved, but often are not represented by studies evaluating cutting-edge concepts. We used a novel educational platform to provide participatory genomic testing and classroom education. We assessed participant knowledge and perceptions using questionnaires between May and July 2018. Setting: We partnered with a FQHC affiliated with an academic medical center in Chicago. Participants: Using convenience sampling, we recruited 20 providers and 10 community members for a feasibility study. Providers included physicians, physician extenders, community health workers, and patient health navigators. Community members were patients, supporters, and/or FQHC advisory board members. Intervention: Participants had the option to undergo personal genomic testing. Online educational modules included basic genetics, cardiovascular pharmacogenomics, and personalized medicine. Education concluded in a 2-hour live course with case-based discussions. Main Outcome Measures: Our main outcome was testing pilot feasibility. Baseline knowledge and perceptions were compared with post-intervention assessments using descriptive statistics, t tests (or Wilcoxon rank-sum) for continuous variables and chi-squared (or Fisher's exact) for categorical variables. Results: We found that attitudes toward the intervention were positive and remained so after intervention. Our intervention was both feasible and acceptable. Genomics knowledge increased for nearly all participants. Conclusions: We have determined that a pharmacogenomics educational program tailored for an underrepresented community is feasible and acceptable. Outcomes will advise methodology for larger implementation studies.

Quantification of ovine herpesvirus 2 by digital PCR in an outbreak of malignant catarrhal fever.

Infection with ovine gammaherpesvirus 2 (OvHV-2) is generally asymptomatic in sheep; however, when it crosses the species barrier, it causes malignant catarrhal fever (MCF) in cattle. In the present study, we developed a real-time PCR assay and a droplet digital PCR assay and use both methods to study an outbreak caused by OvHV-2. Both PCR methods showed high sensitivity and specificity and were able to detect low copy numbers of OvHV-2 in sheep and cattle. The present study describes the first digital PCR quantification of OvHV-2 genome copies in samples collected from sheep and cattle.

Short-Term Betanin Intake Reduces Oxidative Stress in Wistar Rats.

Oxidative stress is a common condition described in risk factors for cardiovascular disease. Betanin, a bioactive pigment from red beetroot demonstrates anti-inflammatory and antioxidant properties. The main aim of this study was to evaluate the short-term intake of betanin against oxidative stress in a rodent model, a common condition described in several risk factors for cardiovascular disease. Oxidative stress was induced in Wistar rats by a hyperlipidemic diet for 60 days, followed by betanin administration (20 mg·kg-1) through oral gavage for 20 days. Plasma biochemical parameters and antioxidant enzyme activities were evaluated. Lipid peroxidation and histopathological changes were determined in the liver. The hyperlipidemic diet caused hyperglycemia, hyperinsulinemia, insulin resistance, and increases in alanine transaminase and aspartate transaminase levels. Oxidative stress status was confirmed by reduction of antioxidant enzyme activities, increased lipid peroxidation, and liver damage. Purified betanin regulated glucose levels, insulin, and insulin resistance. Hepatic damage was reversed as evidenced by the reduction in alanine transaminase and aspartate transaminase levels and confirmed by histological analyses. Betanin reduced hepatic malondialdehyde and increased superoxide dismutase, catalase, and glutathione peroxidase activities. Short-term betanin intake modulated biochemical parameters, reversed hepatic tissue damage, and attenuated oxidative stress in Wistar rats.

Down syndrome in adults: success and challenge / Síndrome de Down em adultos: sucessos e desafios

The estimated average survival of people with Down syndrome (DS) is currently over 50 years of age. This demographic finding warrants attention of health professionals who will care for an increasing number of adults with DS. Clinical evaluation of adults with DS should correlate characteristics inherent to the age group, especially the peculiarities produced by the syndrome. The present article proposes the development of preventive and vaccination programs ­ according to gender and age ­ and screening of diseases and conditions associated with the syndrome: 1) endocrine diseases; 2) cardiac diseases; 3) mental health; 4) dental care; 5) sensory organs; 6) osteoarticular abnormalities; 7) skin and appendages; 8) gastrointestinal diseases; and 9) cancer. However, there is scant information on the impact of comorbidities on life expectancy and quality of life or on the social and hospital costs of adults with DS.

A estimativa da sobrevida média de indivíduos com síndrome de Down (SD) passa atualmente dos 50 anos de idade. Esse dado demográfico justifica a atenção de profissionais da saúde que prestarão cuidados a um número crescente de adultos com SD. A avaliação clínica desse grupo de pacientes adultos deve correlacionar características inerentes à faixa etária, principalmente as peculiaridades produzidas pela síndrome. O presente artigo propõe o desenvolvimento de programas de prevenção e vacinação ­ conforme gênero e idade ­ e triagem de doenças e quadros associados à síndrome: 1) doenças endócrinas; 2) doenças cardíacas; 3) saúde mental; 4) saúde bucal; 5) órgãos sensoriais; 6) anomalias osteoarticulares; 7) pele e anexos; 8) doenças gastrointestinais; 9) câncer. Entretanto, há poucas informações sobre o impacto das comorbidades na expectativa de vida e na qualidade de vida, além dos custos hospitalares e sociais de adultos com SD.

Síndrome de Ellis-van Creveld. Reporte de un caso en Ecuador / Ellis-van Creveld Syndrome. A case report in Ecuador / Síndrome de Ellis-Van Creveld. Relato de um caso no Equador

Resumen: El síndrome de Ellis-van Creveld es una rara anormalidad genética autosómica recesiva causada por mutaciones en el cromosoma 4p16. Presenta una tétrada típica: condrodistrofia, polidactilia postaxial, displasia ectodérmica y cardiopatía congénita, siendo esta última la principal determinante de la mortalidad. Desde que fue descrito en 1940, se han registrado 150 casos en la literatura científica; en Sudamérica son pocos los casos registrados y en Ecuador no se encontró ningún caso publicado. Se presenta un paciente asintomático de 20 años que acude a un control médico de rutina donde se evidencia un soplo cardíaco.

Summary: Ellis-van Creveld syndrome is a rare autosomal recessive disorder. It is caused by a mutation in 4p16 chromosome. It is characterized by a classical tetrad: chondrodystrophy, postaxial polydactyly, ectodermal dysplasia, and congenital heart defect. The congenital heart defect is the main determinant of mortality. Ellis-van Creveld syndrome was described in 1940; it has been registered 150 case reports. There are few reports in South America. In Ecuador, it wasn't found case reports. A 20 years old asymptomatic patient is presented, who goes to routine health care and is found to have a heart murmur.

Resumo: A síndrome de Ellis-van Creveld é uma esquisita doença autossômica recessiva. É causada por uma mutação no cromossomo 4p16. É caracterizada por quatro sinais típicas: condrodistrofia, polidactilia pós-axial, displasia ectodérmica e cardiopatia congênita. O defeito cardíaco congênito é o principal determinante da mortalidade. Desde que foi descrito em 1940 tenham sido registrados 150 relatos de caso. Na America do Sul existem poucos relatos, e no Equador não se encontrou nenhum publicado. É apresentado um paciente assintomático de 20 anos que vai para o controle médico de rotina, onde é encontrada uma bulha cardíaca.

Correlation of APRIL with production of inflammatory cytokines during acute malaria in the Brazilian Amazon.

INTRODUCTION: A proliferation-inducing ligand (APRIL) and B cell activation factor (BAFF) are known to play a significant role in the pathogenesis of several diseases, including BAFF in malaria. The aim of this study was to investigate whether APRIL and BAFF plasma concentrations could be part of inflammatory responses associated with P. vivax and P. falciparum malaria in patients from the Brazilian Amazon. METHODS: Blood samples were obtained from P. vivax and P. falciparum malaria patients (n = 52) resident in Porto Velho before and 15 days after the beginning of treatment and from uninfected individuals (n = 12). We investigated APRIL and BAFF circulating levels and their association with parasitaemia, WBC counts, and cytokine/chemokine plasma levels. The expression levels of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) on PBMC from a subset of 5 P. vivax-infected patients were analyzed by flow cytometry. RESULTS: APRIL plasma levels were transiently increased during acute P. vivax and P. falciparum infections whereas BAFF levels were only increased during acute P. falciparum malaria. Although P. vivax and P. falciparum malaria patients have similar cytokine profiles during infection, in P. vivax acute phase malaria, APRIL but not BAFF levels correlated positively with IL-1, IL-2, IL-4, IL-6, and IL-13 levels. We did not find any association between P. vivax parasitaemia and APRIL levels, while an inverse correlation was found between P. falciparum parasitaemia and APRIL levels. The percentage of TACI positive CD4+ and CD8+ T cells were increased in the acute phase P. vivax malaria. CONCLUSION: These findings suggest that the APRIL and BAFF inductions reflect different host strategies for controlling infection with each malaria species.