Leveduras da cavidade oral de crianças com AIDS: produção de exoenzimas e resistência antifúngica

The oral fungal microbiota of 30 children with AIDS, of both genders, aged from two to six years, receiving outpatient treatment, was evaluated and compared with that of a control group composed of 30 healthy subjects with matching ages and genders. Virulence factors, such as exoenzyme production, and susceptibility to five antifungal agents using an E-Test kit were evaluated. C. albicans predominated over other species in the AIDS group, showing a higher production of proteinase and phospholipase when compared with that observed in the control group. In this study few clinical manifestations of and low selectivity for C. albicans (23.3%) were observed in the AIDS group. The enzymatic studies showed that 53.8% of the AIDS strains were strongly positive whereas only 33.3% of the non-AIDS strains were positive. Amphotericin B was the most effective drug among the antifungal agents tested against C. albicans. The frequency, selectivity and level of exoenzyme production by C. albicans suggest a higher pathogenicity in the AIDS children than in the control children.A microbiota fúngica bucal de 30 crianças com AIDS, de ambos os gêneros, com idades entre dois e seis anos, recebendo atendimento ambulatorial, foi avaliada e comparada com a de um grupo controle constituído de 30 indivíduos saudáveis com idades e gêneros equivalentes. Fatores de virulência, tais como a produção de exoenzimas, e a suscetibilidade dos microorganismos a cinco agentes antifúngicos, medida por meio de um kit E-Test, foram avaliados. O microorganismo C. albicans predominou sobre outras espécies no grupo com AIDS, demonstrando uma maior produção de proteinase e fosfolipase quando comparada com a produção observada no grupo controle. No grupo com AIDS, foram observadas poucas manifestações clínicas de C. albicans, além de uma baixa seletividade para o microorganismo (23,3%). Os estudos enzimáticos mostraram que 53,8% das linhagens no grupo com AIDS foram fortemente positivas, ao passo que apenas 33,3% o foram no grupo controle. Dentre os agentes antifúngicos testados, a anfotericina B foi a droga mais efetiva contra C. albicans. A freqüência, a seletividade e o nível de produção de exoenzimas pelo microorganismo sugerem a ocorrência de uma maior patogenicidade nas crianças com AIDS do que nas crianças do grupo controle

Freqüência e atividade enzimática (proteinase e fosfolipase) de Candida albicans de pacientes desdentados totais, com e sem estomatite protética

The so called erithematous stomatitis is frequently observed in denture wearers, being local factors, mainly related to the presence of yeasts, considered important for its development. Having these aspects in mind, we evaluated edentulous patients with and without denture stomatitis (DS), identifying the yeasts obtained from the palate, and determining the relative level of the proteinase and phospholipase exo-enzymes produced by C. albicans. The results suggested that C. albicans was the most frequent species observed, being more prevalent in patients presenting DS, isolated or in association with other yeasts, with high expression of proteinase.A Estomatite Protética (EP) é freqüentemente observada em pacientes portadores de prótese total, sendo a presença de fungos considerada um importante fator para o seu aparecimento. Baseado neste fato, avaliamos pacientes edêntulos com e sem estomatite protética, identificando os fungos presentes, e os níveis de proteinase e fosfolipase produzidos por Candida albicans. Os resultados mostraram que C. albicans foi a espécie mais freqüente, prevalecendo em pacientes com EP. Todas as cepas de C. albicans isoladas foram fortemente positivas para proteinase, diferentemente da atividade de fosfolipase

Polysomnography evaluation and swallowing endoscopy of patients with Pierre Robin sequence

Asequência de Pierre Robin é caracterizada por micrognatia, glossoptose e obstrução das vias aéreas superiores. A gravidade dos sintomas é muito variável, o que torna o tratamento destes pacientes um desafio. OBJETIVOS: Identificar a presença de apneia-hipopneia obstrutiva do sono e avaliar a presença de alterações da deglutição em pacientes portadores da sequência de Pierre-Robin. MATERIAL E MÉTODOS: Estudo retrospectivo em que foram avaliadas 14 crianças com sequência de Pierre-Robin, sendo oito do sexo feminino. As crianças foram submetidas à videoendoscopia da deglutição e polissonografia. RESULTADO: Oito pacientes foram incluídos no estudo. Seis apresentaram polissonografia normal e apenas 1 paciente apresentou apneia-hipopneia leve de origem central. A videoendoscopia da deglutição mostrou-se normal em cinco pacientes e disfagia moderada foi detectada em três pacientes sendo submetidos à gastrostomia. A distração da mandíbula foi realizada em quatro pacientes que também foram submetidos à traqueostomia no mesmo tempo cirúrgico. CONCLUSÕES: Disfagia foi mais prevalente do que a apneia do sono. A videoendoscopia da deglutição mostrou ser um exame dinâmico e eficaz na detecção de distúrbios alimentares em pacientes com a sequência de Pierre Robin.The Pierre Robin sequence is characterized by micrognathia, glossoptosis and upper airway obstruction. Symptom severity varies, and this makes the treatment of these patients a true challenge. AIM: to identify the presence of sleep hypopneaapnea in patients with Pierre-Robin sequence. MATERIALS AND METHODS: retrospective study in which we assessed 14 children with Pierre-Robin sequence, eight girls. The children were submitted to swallowing video-endoscopy study and polysomnography. RESULTS: eight patients were included in this study. Six had normal polysomnography and only one patient had mild central hypopnea-apnea. Swallowing video-endoscopy was normal in five patients and moderate dysphagia was detected in three patients, who were then submitted to gastrostomy. Mandible distraction was carried out in four patients who were also submitted to tracheostomy during the same procedure. CONCLUSIONS: dysphagia was more prevalent than sleep apnea. Swallowing video-endoscopy proved to be a dynamic test and one able to detect feeding disorders in patients with Pierre Robin sequence

Trypanosoma rangeli Transcriptome Project: Generation and analysis of expressed sequence tags

Trypanosoma rangeli is an important hemoflagellate parasite of several mammalian species in Central and South America, sharing geographical areas, vectors and reservoirs with T. cruzi, the causative agent of Chagas disease. Thus, the occurrence of single and/or mixed infections, including in humans, must be expected and are of great importance for specific diagnosis and epidemiology. In comparison to several Trypanosomatidae species, the T. rangeli biology and genome are little known, reinforcing the needs of a gene discovery initiative. The T. rangeli transcriptome initiative aims to promote gene discovery through the generation of expressed sequence tags (ESTs) and Orestes (ORF ESTs) from both epimastigote and trypomastigote forms of the parasite, allowing further studies of the parasite biology, taxonomy and phylogeny

Aortopathy in the 7q11.23 microduplication syndrome

The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is elastin (), implicated as the cause of supravalvar aortic stenosis in patients with Williams–Beuren syndrome. Here we present a series of eight pediatric patients and one adult with 7q11.23 microduplication syndrome, all of whom had aortic dilation, the opposite vascular phenotype of the typical supravalvar aortic stenosis found in Williams–Beuren syndrome. The ascending aorta was most commonly involved, while dilation was less frequently identified at the aortic root and sinotubular junction. The findings in these patients support a recommendation for cardiovascular surveillance in patients with 7q11.23 microduplication syndrome. © 2014 Wiley Periodicals, Inc

Utilização de endoprótese autoexpansível (stent) posicionada naaorta torácica do cão

We present 5 dogs who underwent treatment with an auto-expandable Dacron-covered stent in the thoracic aorta. The catheter with stents was deployed through the abdominal aorta. The procedure was performed under total anesthesia and full heparinization. A perfect integration of the stent and thoracic aorta was observed on histological examination. We believe that utilization is an improvement in relation to the elephant trunk technique and that it should contribute to improve surgical results in type B dissection.Este trabalho tem como objetivo a análise histológica de segmentos de aorta de cães submetidos ao implante de endopróteses (stents recobertos com Dacron). Para este fim, abordamos a aorta abdominal infra-renal por laparotomia paramediana esquerda. Após a heparinização, introduzimos neste segmento de aorta o cateter contendo o stent até a aorta torácica, onde procedemos à sua expansão. Todos os cães sobreviveram e foram sacrificados com 30, 60, 90 e 180 dias. A análise histológica demonstrou a perfeita integração da prótese com a parede da aorta e formação de uma neoíntima recobrindo a gaiola metálica. Acreditamos que a utilização dos stents deva contribuir para melhorar os resultados da correção cirúrgica das doenças da aorta.Escola Paulista de MedicinaUNIFESP, EPMSciEL

Manejo de matorrales y bioenergía

En Patagonia norte, la disponibilidad de biomasa proveniente de los bosques nativos otorga un alto potencial bioenergético regional. Por ejemplo, la silvicultura de estos bosques podría dejar gran cantidad de biomasa para uso energético. Sin embargo, la baja densidad demográfica de Patagonia implica transportes hasta centros de consumo alejados, obstaculizando el desarrollo de la bioenergía en la región. Caracterizamos las maderas de especies del matorral de Patagonia norte mediante parámetros físico-químicos de interés energético. Luego, combinamos estos parámetros con la cantidad de residuos leñosos que producen raleos de diferente intensidad. Utilizando un enfoque espacialmente explícito, analizamos el balance entre oferta y costo energético por extracción y transporte del residuo hasta centros de comercialización. Nuestro trabajo representa una primera aproximación espacial para cuantificar el potencial bioenergético de estos matorrales. Dado el escaso conocimiento regional sobre la oferta de biomasa para utilización energética, nuestros resultados presentan relevancia aplicada para la planificación energética.The available biomass in northern Patagonia forests gives to the region a high bioenergy potential. For instance, silvicultural management in these forests could leave a large amount of biomass suitable for energy purposes. Nevertheless, population density in Patagonia is low, which entails that the resource should be transported long distances as far as the consumption centers, undermining the development of bioenergy in this region. In this work, we characterize the woods of species growing in northern Patagonia shrublands by means of physical-chemical parameters of energy interest. Then, we combine these parameters with the amount of woody residues produced by varying-intensity thinning. By using a spatially explicit approach, we analyzed the balance between supply and energy cost for extraction and transport of the waste up to marketing centers. Our work represents a first spatial approximation quantifying the bioenergy potential of northern Patagonia shrublands. Given the lack of regional knowledge about the supply of biomass for energy purposes, our results have applied importance for energy planning.Fil: Oddi, Facundo José. Universidad Nacional de Río Negro. Sede Andina. Instituto de Investigaciones en Recursos Naturales, Agroecología y Desarrollo Rural; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte; ArgentinaFil: Goldenberg, Matías Guillermo. Universidad Nacional de Río Negro. Sede Andina. Instituto de Investigaciones en Recursos Naturales, Agroecología y Desarrollo Rural; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte; ArgentinaFil: Cardoso, Yamila Paula. Universidad Nacional de Río Negro. Sede Andina. Instituto de Investigaciones en Recursos Naturales, Agroecología y Desarrollo Rural; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte; ArgentinaFil: Garibaldi, Lucas Alejandro. Universidad Nacional de Río Negro. Sede Andina. Instituto de Investigaciones en Recursos Naturales, Agroecología y Desarrollo Rural; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte; Argentin

Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies

Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized previously. We report two siblings with Alström syndrome with conduction system involvement with left bundle branch block on electrocardiogram (ECG). One patient had first degree atrioventricular block in addition to bundle branch block and underwent pacemaker implantation. This same patient developed intra-atrial reentry tachycardia requiring anti-arrhythmic medication and eventual trans-catheter ablation. The second patient developed atrial and ventricular arrhythmias and underwent placement of a bi-ventricular defibrillator. These findings suggest that cardiac conduction system involvement and clinical arrhythmia may be significant yet under-recognized complications in patients with Alström syndrome. Patients should be routinely screened with ECG and Holter monitoring in addition to echocardiographic assessment and a cardiologist experienced with cardiomyopathy should be an integral part of the care team

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

The two aims of this study were (i) to describe and expand the phenotypic spectrum of PIGT deficiency in affected individuals harboring the c.1582G>A; p.Val528Met or the c.1580A > G; p.Asn527Ser variant in either homozygous or compound heterozygous state, and (ii) to identify potential genotype-phenotype correlations and any differences in disease severity among individuals with and without the PIGT variants. The existing literature was searched to identify individuals with and without the two variants. A detailed phenotypic assessment was performed of 25 individuals (both novel and previously published) with the two PIGT variants. We compared severity of disease between individuals with and without these PIGT variants. Twenty-four individuals carried the PIGT variant Val528Met in either homozygous or compound heterozygous state, and one individual displayed the Asn527Ser variant in a compound heterozygous state. Disease severity in the individual with the Asn527Ser variant was compatible with that in the individuals harboring the Val528Met variant. While individuals without the Asn527Ser or Val528Met variant had focal epilepsy, profound developmental delay (DD), and risk of premature death, those with either of the two variants had moderate to severe DD and later onset of epilepsy with both focal and generalized seizures. Individuals homozygous for the Val528Met variant generally became seizure-free on monotherapy with antiepileptic drugs, compared to other PIGT individuals who were pharmaco-resistant. Two patients were diagnosed with myoclonic-atonic seizures, and a single patient was diagnosed with eyelid myoclonia. Our comprehensive analysis of this large cohort of previously published and novel individuals with PIGT variants broadens the phenotypical spectrum and shows that both Asn527Ser and Val528Met are associated with a milder phenotype and less severe outcome. Our data show that PIGT is a new candidate gene for myoclonic atonic epilepsy. Our genotype-phenotype correlation will be useful for future genetic counseling. Natural history studies of this mild spectrum of PIGT-related disorder may shed light on hitherto unknown aspects of this rare disorder