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1.
J Appl Microbiol ; 130(6): 2075-2086, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33124086

RESUMEN

AIMS: Allergic asthma is a chronic inflammatory lung disease characterized by a Th2-type immune response pattern. The development of nonspecific immunotherapy is one of the primary goals for the control of this disease. METHODS AND RESULTS: In this study, we evaluated the therapeutic effects of Lactococcus lactis-producing mycobacterial heat shock protein 65 (LLHsp65) in an ovalbumin (OVA)-induced allergic asthma model. OVA-challenged BALB/c mice were orally administrated with LLHsp65 for 10 consecutive days. The results demonstrate that LLhsp65 attenuates critical features of allergic inflammation, like airway hyperresponsiveness and mucus production. Likewise, the treatment decreases the pulmonary eosinophilia and the serum level of OVA-specific IgE. In addition to deviating immune responses towards Th1-cytokine profile, increase regulatory T cells, and cytokine levels, such as IL-6 and IL-10. CONCLUSIONS: Our results reveal that the mucosal immunotherapy of LLHsp65 significantly reduces the overall burden of airway allergic inflammation, suggesting a promising therapeutic strategy for allergic asthma treatment. SIGNIFICANCE AND IMPACT OF THE STUDY: This research reveals new perspectives on nonspecific immunotherapy based on the delivery of recombinant proteins by lactic acid bacteria to treat of allergic disorders.


Asunto(s)
Asma/tratamiento farmacológico , Proteínas Bacterianas/farmacología , Chaperonina 60/farmacología , Inflamación/tratamiento farmacológico , Lactococcus lactis/inmunología , Administración Oral , Animales , Asma/inmunología , Líquido del Lavado Bronquioalveolar/citología , Citocinas/metabolismo , Modelos Animales de Enfermedad , Femenino , Hipersensibilidad/tratamiento farmacológico , Inmunoglobulina E/sangre , Inmunoglobulina G/sangre , Inmunoterapia , Lactococcus lactis/metabolismo , Pulmón/efectos de los fármacos , Pulmón/inmunología , Pulmón/patología , Ratones , Ratones Endogámicos BALB C , Ovalbúmina , Linfocitos T Reguladores/inmunología
2.
Rhinology ; 58(5): 477-481, 2020 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-32369538

RESUMEN

BACKGROUND: Systematic endoscopic assessment (SEA) of bleeding sites is critical for topodiagnosis and treatment of severe epistaxis, which is not limited to the posterior region. A bleeding site originating from the ethmoidal vasculature, the S-point, has recently been described. The aim of this study is to ascertain the prevalence of each bleeding site in severe epistaxis using a SEA protocol that includes the S-point. METHODOLOGY: Prospective longitudinal study of 51 severe epistaxis patients who underwent 53 SEA under general anesthesia from April 2018 through March 2019. SEA consisted of use of a rigid nasal endoscope; no reduction in blood pressure; no use of topical vasoconstrictor; systematic search of all regions of the nose. Bleeding sites were assigned to either superior or posterior epistaxis. RESULTS: At least one bleeding site was identified in 37 evaluations (69.8%). The S-point was the most common bleeding site (28.3%), followed by the lateral middle turbinate (9.4%), non-S-point upper septum (7.5%), nasal roof (7.5%), and upper lateral wall (7.5%). Superior epistaxis was identified in the most of cases (27 SEA, 50.9%), whereas only 14 SEA (26.4%) identified posterior epistaxis â€" fewer than the 16 SEA that did not identify any bleeding sites (30.2%). There were two recurrences (3.8%). CONCLUSIONS: Systematic endoscopic assessment effectively identified bleeding sites in 69.8% of severe epistaxis. The S-point was the most common bleeding site identified (28.3%). Finally, superior epistaxis corresponded to more than half of the identified bleeding sites, demonstrating the importance of examining this region judiciously in patients with severe epistaxis.


Asunto(s)
Endoscopía , Epistaxis , Epistaxis/terapia , Humanos , Estudios Longitudinales , Cavidad Nasal , Estudios Prospectivos
3.
Environ Monit Assess ; 190(2): 77, 2018 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-29322345

RESUMEN

Total mercury (THg) concentrations measured in two freshwater shrimp species (Macrobrachium depressimanum and Macrobrachium jelskii) showed a relationship with the location of artisanal and small-scale gold mining (ASGM) from the Madeira River Basin, Western Amazon. Between August 2009 and May 2010, 212 shrimp samples were collected in the confluence of the Madeira River with three of its tributaries (Western Amazon). THg concentration was quantified in the exoskeleton, hepatopancreas and muscle tissue of the shrimps by cold vapor atomic absorption spectrophotometry. There were no significant differences between the two shrimp species when samples came from the Madeira River, but Hg concentrations were significantly lower in a tributary outside the influence of the gold mining area. Average THg concentrations were higher in the hepatopancreas (up to 160.0 ng g-1) and lower in the exoskeleton and muscle tissue (10.0-35.0 ng g-1 and < 0.9-42.0 ng g-1, respectively). Freshwater shrimps from the Madeira River respond to local environmental levels of Hg and can be considered as biomonitors for environmental Hg at this spatial scale. These organisms are important for moving Hg up food webs including those that harbor economic significant fish species and thus enhancing human exposure.


Asunto(s)
Oro , Mercurio/análisis , Minería , Palaemonidae , Contaminantes Químicos del Agua/análisis , Exoesqueleto/química , Animales , Brasil , Monitoreo del Ambiente , Hepatopáncreas/química , Músculos/química , Ríos
4.
BMC Vet Res ; 13(1): 334, 2017 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-29141627

RESUMEN

BACKGROUND: Platelet transfusion therapy poses many challenges in veterinary clinical practice. Lack of readily available blood donors, short shelf-life, and inability to administer a sufficient number of platelets to meet a dog's transfusion need are the major difficulties encountered. Platelet additive solutions are already in use at American and European human blood banks, showing to be a realistic alternative. This study compares the in vitro platelet function in plasma, Composol, or SSP+ during storage for 13 days. Platelet rich plasma-platelet concentrate with 35% plasma and 65% platelet additive solutions (Composol or SSP+) and a control group (100% plasma) were prepared. Swirling, platelet count, blood gases, metabolic variables, platelet activation markers, and apoptosis markers were analyzed on days 1, 5, 9 and 13. RESULTS: Swirling was well preserved and pH was acceptable (> 6.2) during storage for all platelet additive solutions units until day 9. SSP + units showed more stable pH and metabolic variables until day 13. Platelets in plasma showed higher glucose consumption than in Composol or in SSP+. The platelet additive solutions units showed better platelet metabolism maintenance, reduced glucose consumption and lactate production. The apoptotic markers were still low for 9 days in platelet concentrates with platelet additive solutions, suggesting the possibility to extend the shelf life with the use of SSP+ or Composol. CONCLUSIONS: Our findings suggest that the uses of Composol and SSP+ in canine platelet concentrates are potential alternatives in veterinary blood banks.


Asunto(s)
Plaquetas , Conservación de la Sangre/veterinaria , Medios de Cultivo , Perros/sangre , Animales , Plaquetas/fisiología , Medios de Cultivo/química , Estudios de Factibilidad , Recuento de Plaquetas , Soluciones/química
5.
Genet Mol Res ; 16(2)2017 May 10.
Artículo en Inglés | MEDLINE | ID: mdl-28510253

RESUMEN

Our aims were to determine the frequencies of feline immunodeficiency virus (FIV) and feline leukemia virus (FeLV) in owned and stray cats in the northeastern region of Brazil, ascertain the status of FeLV infection, and investigate potential associated factors among the owned cats. Blood samples from 200 asymptomatic owned cats and 30 stray cats were processed using nested PCR and commercial immunochromatographic tests to diagnose infections. To evaluate the factors associated with FIV and/or FeLV in owned cats, a semi-structured interview was conducted with each owner about the animal's environment, and these data were subjected to unconditional logistic regression. The frequencies for owned cats were 6% (12/200) and 3% (6/200) for FIV and FeLV, respectively. No owned cat was positive for both viruses. Stray cats showed frequencies of 6.66% (2/30) and 0% (0/30) for FIV and FeLV, respectively. Contact with other cats and living in peri-urban areas were considered to be risk factors (P < 0.05) for FIV. We did not identify any factors associated with infections with FeLV. Our results confirm the presence of these two retroviruses in the region under study. Our use of different diagnostic techniques allowed us to determine the frequency of retroviruses in the feline population more accurately, particularly with regard to infections by FeLV, which have complex pathogenesis.


Asunto(s)
Gatos/virología , Síndrome de Inmunodeficiencia Adquirida del Felino/epidemiología , Virus de la Inmunodeficiencia Felina/genética , Virus de la Leucemia Felina/genética , Leucemia Felina/epidemiología , Animales , Brasil , Síndrome de Inmunodeficiencia Adquirida del Felino/virología , Femenino , Leucemia Felina/virología , Masculino , Mascotas/virología
6.
J Anim Physiol Anim Nutr (Berl) ; 101(3): 493-501, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27488363

RESUMEN

We aimed to evaluate the effects of maternal nutrition (MN) and foetal sex on the intestinal development of bovine foetuses throughout different days of gestation (DG). Forty-four multiparous, dry Holstein × Gyr cows with average initial body weight of 480 ± 10 kg were fed the same diet of either restricted feeding at 1.15% of body weight (CO, n = 24) or fed ad libitum (overnourished, ON, n = 20). Six cows from CO group and five cows from ON group were slaughtered at 139, 199, 241 and 268 DG, and foetuses were necropsied to evaluate the intestinal development. The mass, length and density of foetal intestines were not affected by MN (p ≥ 0.260). An interaction between MN and DG was observed for the villi length of jejunum (p = 0.006) and ileum (p < 0.001). Villi length of jejunum and ileum was higher (p < 0.10) in foetuses from ON-fed cows than in foetuses from CO-fed cows at 139 DG. However, at 199 DG, the villi length of jejunum and ileum of foetuses from CO-fed cows was higher than in foetuses from ON-fed cows. Despite these differences, MN did not affect the villi length of jejunum and ileum at 268 DG (p > 0.10). Female foetuses had greater small intestine mass (p = 0.093), large intestine mass (p = 0.022), small intestine mass in proportion to body mass (p = 0.017) and large intestine mass in proportion to body mass (p < 0.001) than male foetuses. Female foetuses had also longer small intestine (p = 0.077) and greater small intestine density (p = 0.021) and villi length of jejunum (p = 0.001) and ileum (p = 0.010) than males. We conclude that MN affects the pathway for the development of foetal villi length throughout the gestation in bovine foetuses without changing the final villi length. Female foetuses had higher intestinal mass, density and villi length than males during the foetal phase in bovines.


Asunto(s)
Alimentación Animal/análisis , Fenómenos Fisiológicos Nutricionales de los Animales , Bovinos/embriología , Intestinos/embriología , Fenómenos Fisiologicos Nutricionales Maternos , Animales , Dieta/veterinaria , Femenino , Estado Nutricional , Embarazo , Factores Sexuales
7.
Bull Environ Contam Toxicol ; 98(2): 149-155, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28025688

RESUMEN

Average total Hg concentrations measured in muscle of two species of tuna (Thunnus obesus and T. albacares) captured in the Brazilian Equatorial Atlantic Ocean varied from 95 to 1748 ng.g-1 wet weight in T. obesus and 48 to 500 ng.g-1 wet weight in T. albacares. Higher concentrations in T. obesus are probably related to foraging on deep water carnivorous fish. Smaller individuals of both species showed the lowest concentrations, but a significant positive relationship between fish weight and length and Hg concentrations was found for T. obesus, but not for T. albacares. Largest individuals (>30 kg) of T. obesus showed Hg concentrations ≥1000 ng.g-1, surpassing the legal limits for human consumption, although the average concentration for this species was much lower (545 ng.g-1). Concentrations in T. albacares from the Brazilian Equatorial were lower than those found in the African and in the North Atlantic. No comparison could be made for T. obesus due to few studies for this species in the Atlantic Ocean.


Asunto(s)
Mercurio/análisis , Músculos/química , Atún , Contaminantes Químicos del Agua/análisis , Animales , Océano Atlántico , Brasil , Monitoreo del Ambiente , Geografía , Humanos
8.
Bull Environ Contam Toxicol ; 97(4): 474-9, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27300522

RESUMEN

Mercury concentrations in oysters from four estuaries in northeastern Brazil varied following source changes during the past 13 years. Concentrations were higher in urban estuaries relative to rural areas, but decreased in the 13-years interval following improvements in solid wastes disposal and sewage treatment. In rural estuaries, the one located in an environmental protection area showed no changes in Hg concentrations in the period. However, in the Jaguaribe estuary, remobilization from soils and sediments due to regional environmental changes, increased Hg concentrations in oysters to values similar to the most contaminated metropolitan sites.


Asunto(s)
Monitoreo del Ambiente/métodos , Mercurio/análisis , Ostreidae/química , Animales , Brasil , Estuarios , Rhizophoraceae/química , Mariscos
9.
Clin Genet ; 88(2): 190-4, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25088547

RESUMEN

The newly-synthesized lysosomal enzymes travel to the trans-Golgi network (TGN) and are then driven to the acidic organelle. While the best-known pathway for TGN-to-endosome transport is the delivery of soluble hydrolases by the M6P receptors (MPRs), additional pathways do exist, as showed by the identification of two alternative receptors: LIMP-2, implicated in the delivery of ß-glucocerebrosidase; and sortilin, involved in the transport of the sphingolipid activator proteins prosaposin and GM2AP, acid sphingomyelinase and cathepsins D and H. Disruption of the intracellular transport and delivery pathways to the lysosomes may result in lysosomal dysfunction, predictably leading to a range of clinical manifestations of lysosomal storage diseases. However, for a great percentage of patients presenting such manifestations, no condition is successfully diagnosed. To analyse if, in this group, phenotypes could be determined by impairments in the known M6P-independent receptors, we screened the genes that encode for LIMP-2 and sortilin. No pathogenic mutations were identified. Other approaches will be needed to clarify whether sortilin dysfunction may cause disease.


Asunto(s)
Proteínas Adaptadoras del Transporte Vesicular/genética , Manosafosfatos/metabolismo , Transporte de Proteínas/genética , Receptor IGF Tipo 2/genética , Receptores Depuradores de Clase B/genética , Proteínas Adaptadoras del Transporte Vesicular/metabolismo , Catepsina D/metabolismo , Catepsina H/metabolismo , Glucosilceramidasa/metabolismo , Humanos , Lisosomas , Glicoproteínas de Membrana/genética , Saposinas/metabolismo , Esfingomielina Fosfodiesterasa/metabolismo , Red trans-Golgi/enzimología , Red trans-Golgi/genética
10.
Mol Genet Metab ; 112(2): 160-70, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24726177

RESUMEN

Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles have a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. GALNS mutations occur throughout the gene and many mutations are identified only in single patients or families, causing difficulties both in mutation detection and interpretation. In this study, molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function, of which 39 are previously unpublished, together with 26 single-nucleotide polymorphisms. Recommendations for the molecular testing of patients, clear reporting of sequence findings, and interpretation of sequencing data are provided.


Asunto(s)
Condroitinsulfatasas/genética , Condroitinsulfatasas/metabolismo , Mucopolisacaridosis IV/genética , Mutación , Células Cultivadas , Niño , Preescolar , Femenino , Estudios de Asociación Genética , Pruebas Genéticas , Genotipo , Glicosaminoglicanos/metabolismo , Humanos , Lactante , Lisosomas/metabolismo , Masculino , Mucopolisacaridosis IV/diagnóstico , Polimorfismo de Nucleótido Simple
11.
Bull Environ Contam Toxicol ; 93(1): 31-5, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24728276

RESUMEN

Indigenous, introduced and farmed fish species were collected from the Jaguaribe Basin, NE Brazil to assess total and methyl mercury concentrations in muscle tissue and to determine its relationship with fish origin. The results obtained from introduced species were compared to the Hg content of their original area of occurrence, which is located in the Amazon region. Farmed and wild individuals of Oreochromis niloticus (tilapia) were also compared. Introduced species presented lower Hg contents compared to their Amazonian counterparts. Wild individuals of O. niloticus also presented higher Hg contents than farmed individuals with similar sizes. However, methyl Hg concentrations were not significantly different between the two groups. Total Hg and methyl Hg concentrations were higher in carnivorous species, especially those from the Amazon region, and surpassed the Brazilian guidelines for fish consumption. Based on their Hg content, Jaguaribe basin fish do not pose a significant threat to human consumption.


Asunto(s)
Peces/fisiología , Mercurio/análisis , Ríos/química , Contaminantes Químicos del Agua/análisis , Animales , Brasil , Cíclidos , Monitoreo del Ambiente , Explotaciones Pesqueras , Contaminación de Alimentos/análisis , Sedimentos Geológicos/química , Músculo Esquelético/química
12.
Rev Med Brux ; 35(3): 174-8, 2014.
Artículo en Francés | MEDLINE | ID: mdl-25102585

RESUMEN

Central pontine and extra-pontine myelinolysis (CPM/EPM) is a rare neurological disorder, well documented for more than 50 years but whose pathogenesis remains obscure. The existence of predisposing factors occurs in the most cases; chronic alcohol abuse is one of the most commonly encountered, among many others. Alcohol withdrawal represents an additional vulnerability factor, being responsible for electrolyte imbalances which are not always demonstrable but are certainly involved in the development of CPM and/or EPM. CPM/EPM may be responsible for severe morbidity and is potentially life-threatening. The diagnosis of CPM/ EPM remains mostly clinical and is confirmed by magnetic resonance imaging of the brain. It should be considered in the setting of any unexplained neurological symptoms during the course of alcohol withdrawal or for any patient with chronic alcohol abuse, as promptly as possible, given the potentially fatal outcome.


Asunto(s)
Alcoholismo/complicaciones , Etanol/efectos adversos , Imagen por Resonancia Magnética , Mielinólisis Pontino Central/inducido químicamente , Mielinólisis Pontino Central/diagnóstico , Síndrome de Abstinencia a Sustancias/complicaciones , Diagnóstico Diferencial , Femenino , Humanos , Hiponatremia/complicaciones , Persona de Mediana Edad , Mielinólisis Pontino Central/tratamiento farmacológico , Transferencia de Pacientes
13.
Environ Monit Assess ; 185(5): 4427-47, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23014923

RESUMEN

Metal concentrations were evaluated in water, bottom sediments, and biota in four field campaigns from 2002 to 2004 in the Potiguar Basin, northeastern Brazil, where offshore oil exploration occurs. Analyses were performed by inductively coupled plasma mass spectrometry and inductively coupled plasma optical emission spectrometry. Total metal concentrations in water (dissolved + particulate) and sediments were in the range expected for coastal and oceanic areas. Abnormally high concentrations in waters were only found for Ba (80 µg l(-1)) and Mn (12 µg l(-1)) at the releasing point of one of the outfalls, and for the other metals, concentrations in water were found in stations closer to shore, suggesting continental inputs. In bottom sediments, only Fe and Mn showed abnormal concentrations closer to the effluent releasing point. Metal spatial distribution in shelf sediments showed the influence of the silt-clay fraction distribution, with deeper stations at the edge of the continental shelf, which are much richer in silt-clay fraction showing higher concentrations than shallower sediments typically dominated by carbonates. Metal concentrations in estuarine (mollusks and crustaceans) and marine (fish) organisms showed highest concentrations in oysters (Crassostrea rhizophorae). Fish tissues metal concentrations were similar between the continental shelf influenced by the oil exploration area and a control site. The results were within the range of concentrations reported for pristine environments without metals contamination. The global results suggest small, if any, alteration in metal concentrations due to the oil exploration activity in the Potiguar Basin. For monitoring purposes, the continental inputs and the distribution of the clay-silt fraction need to be taken into consideration for interpreting environmental monitoring results.


Asunto(s)
Monitoreo del Ambiente , Sedimentos Geológicos/química , Metales/análisis , Contaminación por Petróleo , Agua de Mar/química , Contaminantes Químicos del Agua/análisis , Animales , Biota , Brasil , Crustáceos/metabolismo , Peces/metabolismo , Metales/metabolismo , Moluscos/metabolismo , Contaminantes Químicos del Agua/metabolismo , Contaminación Química del Agua/estadística & datos numéricos
14.
Bull Environ Contam Toxicol ; 90(5): 537-41, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23370694

RESUMEN

In this study, the Hg distributions in water and sediments from a mangrove creek that receives intensive shrimp farming effluents were determined. The average dissolved and particulate Hg concentrations in the water varied from 3.1 to 9.2 ng L(-1) and from 4.4 to 9.4 ng L(-1), respectively. However, the Hg concentrations in the suspended particulate matter and the bottom sediments varied from 95.4 to 115.7 ng g(-1) and from 1.6 to 10.3 ng g(-1), respectively. A Ward quadratic distance cluster analysis based on the Hg concentrations and hydro- and geochemical parameters (oxygen, salinity, temperature, pH, and organic matter and aluminum content) showed the effects of shrimp farming effluents on the Hg distribution pattern. Furthermore, these results were supported by the Hg distribution in the sediment cores. This study emphasizes the necessity of including Hg as a potential pollutant when monitoring the environmental impacts of intensive shrimp farming.


Asunto(s)
Acuicultura , Monitoreo del Ambiente , Sedimentos Geológicos/química , Mercurio/análisis , Contaminantes Químicos del Agua/análisis , Humedales , Animales , Crustáceos , Salinidad , Agua de Mar/química , Contaminación Química del Agua/estadística & datos numéricos
15.
Clin Genet ; 81(4): 379-93, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21214877

RESUMEN

The functional activity of lysosomal enzymes sialidase, ß-galactosidase and N-acetylaminogalacto-6-sulfate-sulfatase in the cell depends on their association in a multienzyme complex with cathepsin A. Mutations in any of the components of this complex result in functional deficiency thereby causing severe lysosomal storage disorders. Here, we report the molecular defects underlying sialidosis (mutations in sialidase; gene NEU1), galactosialidosis (mutations in cathepsin A; gene PPGB) and GM1 gangliosidosis (mutations in ß-galactosidase; gene GLB1) in Portuguese patients. We performed molecular studies of the PPGB, NEU1 and GLB1 genes in biochemically diagnosed Portuguese patients. Gene expression was determined and the effect of each mutation predicted at protein levels. In the NEU1 gene, we found three novel missense mutations (p.P200L, p.D234N and p.Q282H) and one nonsense mutation (p.R341X). In the PPGB gene, we identified two missense mutations, one novel (p.G86V) and one already described (p.V104M), as well as two new deletions (c.230delC and c.991-992delT) that give rise to non-functional proteins. We also present the first molecular evidence of a causal missense mutation localized to the cathepsin A active site. Finally, in the GLB1 gene, we found six different mutations, all of them previously described (p.R59H, p.R201H, p.H281Y, p.W527X, c.1572-1577InsG and c.845-846delC). Seven novel mutations are reported here, contributing to our knowledge of the mutational spectrum of these diseases and to a better understanding of the genetics of the lysosomal multienzymatic complex. The results of this study will allow carrier detection in affected families and prenatal molecular diagnosis, leading to the improvement of genetic counseling.


Asunto(s)
Gangliosidosis GM1/genética , Mucolipidosis/genética , Catepsina A/genética , Femenino , Humanos , Masculino , Mutación , Neuraminidasa/genética , Portugal , beta-Galactosidasa/genética
16.
Clin Genet ; 81(1): 47-55, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21255007

RESUMEN

Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with cystinuria in order to provide insight into genotype-phenotype correlations. We describe seven type I and five non-type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611-2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C (p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with cystinuria.


Asunto(s)
Aminoácidos/orina , Cistinuria/genética , Variación Estructural del Genoma , Adolescente , Alelos , Sistemas de Transporte de Aminoácidos Básicos/genética , Sistemas de Transporte de Aminoácidos Neutros/genética , Niño , Preescolar , Estudios de Cohortes , Biología Computacional , Cistina/metabolismo , Cistinuria/diagnóstico , Cistinuria/epidemiología , Cistinuria/metabolismo , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Pruebas Genéticas , Genoma Humano , Genotipo , Humanos , Lactante , Masculino , Mutación Missense , Portugal/epidemiología , Prevalencia
17.
Braz J Biol ; 84: e253780, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35137847

RESUMEN

Sugarcane crops Saccharum spp. (Poales: Poaceae) produces different derivatives to the world: sugar, ethanol and bioenergy. Despite the application of pesticides, insect pests still cause economic losses, among these the pink sugarcane mealybug Saccharicoccus sacchari (Cockerell, 1895) (Hemiptera: Pseudococcidae) causing direct and indirect damage to the plant. This study assess the virulence of three entomopathogenic nematodes (EPNs) species and their symbiont bacteria against the pink sugarcane mealybug, under laboratory conditions. Fourteen treatments represented by control (distilled water), Heterorhabditis bacteriophora Poinar, 1976 (HB EN01) (Rhabditida: Heterorhabditidae), Steinernema rarum (Doucet, 1986) (PAM25) and Steinernema carpocapsae Weiser, 1955 (All) (Rhabditida: Steinermatidae) at concentrations of 25, 50, 75 and 100 infective juveniles (IJs)/insect, and the standard chemical product, thiamethoxam, were assayed. In a second experiment, the bacteria Photorhabdus luminescens (Thomas and Poinar, 1979), Xenorhabdus szentirmaii Lengyel, 2005 and Xenorhabdus nematophila (Poinar and Thomas, 1965) (Enterobacterales: Morganellaceae) at 3.0 x 109 cells/ml were assessed for each treatment. Ten replications were stablished, each one counting ten females/mealybugs inside a 10 cm Petri dish, amounting 100 individuals/treatment. All treatments were kept under stable conditions (25±1 ºC, H 70±10%, in the dark). All nematodes species infected S. sacchari. Steinerma rarum (PAM25) provided the highest mortality against the pink sugarcane mealybug (79.25%), followed by H. bacteriophora (HB EN01) (58.25%) and S. carpocapsae (All) (42.50%) (P<0.001). The mortality rate caused by X. szentirmaii, P. luminescens and X. nematophila were 40, 45 and 20%, respectively. Steinerma rarum (PAM25) has conditions to be a potential agent to be incorporate into the integrated pest management in sugarcane.


Asunto(s)
Hemípteros , Rabdítidos , Saccharum , Animales , Bacterias , Femenino , Humanos , Laboratorios , Control Biológico de Vectores , Virulencia
18.
Bull Environ Contam Toxicol ; 87(6): 657-61, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21922284

RESUMEN

This study estimated Hg emission factors (EFs) and total Hg loading to the Jaguaribe Estuary, NE Brazil, from intensive shrimp farming, and compares this with other local anthropogenic activities. The EF reached 83.5 mg ha(-1) cycle(-1) (about 175 mg ha(-1) year(-1)), resulting in an annual Hg load to the estuary of 0.35 kg. The calculated EF is comparable to Hg EFs from urban wastewaters (200 mg ha(-1)) and solid waste disposal (400 mg ha(-1) year(-1)) from cities located in the estuary's basin. However, due to the smaller area of aquaculture (2,010 ha), total annual loads are much lower than from these other sources (75 and 150 kg year(-1), respectively). Since shrimp farming effluents are released directly into the estuary, the estimated high EF raises environmental concerns with this expanding industry, suggesting the inclusion of this element in ongoing environmental monitoring programs.


Asunto(s)
Acuicultura , Crustáceos/crecimiento & desarrollo , Sedimentos Geológicos/análisis , Mercurio/análisis , Ríos/química , Contaminantes Químicos del Agua/análisis , Animales , Brasil , Ciudades , Monitoreo del Ambiente/métodos , Sedimentos Geológicos/química , Eliminación de Residuos , Mariscos
19.
Braz J Biol ; 83: e243801, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34161456

RESUMEN

This study presents a four-year follow-up of an introduced population of Physa acuta Draparnaud, 1805, from initial stages to an established population. This introduction occurred on a small impacted stream of Vila do Abraão, the main village of Ilha Grande (Angra dos Reis, Rio de Janeiro, Brazil). The population size increased during the study, and presented a relationship to environmental factors, especially with rainfall. On the initial stages of introduction prevailed the smaller specimens, but on the overall, predominated the intermediate size classes. After less than a year, P. acuta becomes established on this stream and was possibly affecting the other species found on the stream. The information presented here is useful to understand the invasion process of invasive snails, as well as directing conservation efforts.


Asunto(s)
Caracoles , Animales , Brasil , Densidad de Población
20.
J Biomech ; 98: 109465, 2020 01 02.
Artículo en Inglés | MEDLINE | ID: mdl-31735359

RESUMEN

The present study compared neuromuscular activation, measured by surface electromyography (EMG) amplitude [measure by EMG peak (EMGPEAK)] and range of motion (ROM) where EMGPEAK occurred between two training protocols, matched by time under tension, but with a different number and duration of repetitions. Sixteen recreationally trained males performed 2 training protocols with 3 sets, 180 s of rest with 60% of one-repetition maximum(1RM) on the bench press performed in a Smith machine. Protocol A consisted of 6 repetitions with a repetition duration of 6 s and protocol B consisted of 12 repetitions with a repetition duration of 3 s. EMG activity of anterior deltoid, pectoralis major and triceps brachii muscles were recorded. The results showed a general higher EMG amplitude (regardless of the muscle) in protocol B (p = 0.010), and pectoral and triceps brachii consistently presented higher neuromuscular activation than anterior deltoid at both protocols (p = 0.007). Additionally, the ROM where EMGPEAK occurred in triceps brachii was in the middle of the concentric action (~50% of ROM), this occurred in the first half of the same action (~24% of ROM) in the other muscles. In conclusion, protocol B demonstrated an increased EMG amplitude over protocol A, although both protocols responded similarly by achieving the highest EMG amplitude at same ROM among the muscles analysed.


Asunto(s)
Músculo Esquelético/fisiología , Entrenamiento de Fuerza/métodos , Adulto , Brazo/fisiología , Electromiografía , Humanos , Masculino , Fuerza Muscular , Músculos Pectorales/fisiología , Desempeño Psicomotor , Rango del Movimiento Articular , Descanso/fisiología , Factores de Tiempo
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