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BACKGROUND: Sex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore required in order to detect sex chromossomes abnormalities as variations in the number and structure of chromosomes, or the presence of a second cell line as mosaicim or chimerism. CASE PRESENTATION: A male Shorthair cryptorchid cat was presented with clinical signs of anorexia, tenesmus and hyperthermia. Ultrasonography revealed a fluid-filled structure, with approximately 1 cm in diameter, adjacent to the descending colon. Computed tomography evidenced a tubular structure, ventral to the descending colon and caudal to the bladder, which extended cranially, through two branches. Histopathological evaluation confirmed the presence of two atrophic uterine horns and one hypoplastic testicle with epididymis at the end of one of the uterine horns. The end of the other uterine horn was attached to a structure composed by a mass of adipocytes. Cytogenetic analysis revealed a mosaic 37,X/38,XY karyotype. The two cell lines were found in 15% and 85% of the lymphocytes, respectively. Genetic analysis confirmed the presence of SRY and ZFY genes in blood and hair bulbs, and revealed a marked reduction in SRY expression in the testicle. Additionally, this case presented exceptionally rare features, such as a Leydig' cell tumour and a chronic endometritis in both uterine horns. CONCLUSIONS: Complete imaging workup, cytogenetic analysis and SRY gene expression should be systematically realized, in order to properly classify disorders of sexual development (DSD) in cats.
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Doenças do Gato , Cariótipo , Mosaicismo , Animais , Gatos , Masculino , Doenças do Gato/genética , Doenças do Gato/patologia , Doenças do Gato/diagnóstico por imagem , Transtornos do Desenvolvimento Sexual/veterinária , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/patologiaRESUMO
INTRODUCTION: Obstructive sleep apnea (OSA) is a chronic disease with a high populational prevalence that is characterized as airway closure during sleep. Treatment is multidisciplinary and varies according to each case. Continuous positive airway pressure (CPAP), oral appliances, and surgery are the primary therapeutic options. Non-invasive conservative treatments such as sleep hygiene, positional therapy, physical exercises, and weight loss aim to reduce the worsening of the disease while being complementary to the invasive primary treatment. OBJECTIVE: To analyze the impact of non-invasive conservative therapies on the clinical manifestations of OSA syndrome (OSA), compared with other interventions. METHOD: This was a systematic review with meta-analysis. The searches were performed without filters for the time period, type of publication, or language. Randomized clinical trials on subjects over 18 years of age diagnosed with untreated OSA were included. Responses to non-invasive conservative treatment were compared with responses to the primary intervention. Primary outcomes were assessed using the Epworth Sleepiness Scale and/or Functional Outcomes of Sleep Questionnaire (FOSQ). RESULTS: A total of eight studies were included in the review. The heterogeneity of the effect was estimated at 89.77%. Six studies compared conservative treatment with CPAP, one with oral appliances, and one with oropharyngeal exercises. Using the Epworth Sleepiness Scale measurements, the standardized difference in the estimated means, based on the random-effects model, was 0.457 (95% CI (1.082 to 0.169)) and the mean result did not differ significantly from zero (z = 1.43; p = 0.153). The conservative therapies assessed in this study improved the subjective quality of sleep, although the post-treatment ESE scores did not show significant results. The reduction in AHI and better outcomes in the evaluated domains, as well as in cognition and mood, were superior in the groups that received CPAP and IOD. CONCLUSION: The most commonly used treatments of choice for OSA are invasive, including the use of CPAP, oral appliances, and surgeries, being the most utilized options. This study demonstrated that non-invasive conservative treatments, such as sleep hygiene, yield results as effective as invasive treatments. Further studies are needed to confirm this result and to predict whether invasive treatment can be used as the primary treatment or only as a supplement.
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Tratamento Conservador , Apneia Obstrutiva do Sono , Apneia Obstrutiva do Sono/terapia , Humanos , Pressão Positiva Contínua nas Vias AéreasRESUMO
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
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Hiperpigmentação , Deficiência de Vitamina B 12 , Transportadores de Cassetes de Ligação de ATP/genética , Feminino , Homozigoto , Humanos , Hiperpigmentação/genética , Mutação , Proteínas de Transporte Nucleocitoplasmático/genética , Proteínas de Transporte Nucleocitoplasmático/metabolismo , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicaçõesRESUMO
The persistent photoconductivity (PPC) effect is a commonly observed behavior in SnO2 nanostructures. Here we described and studied this effect through a comparative study, based on measurements of electronic transport using network as well as single devices built from SnO2 nanowires under different experimental conditions. At room temperature, the PPC effect was observed to be more accentuated in single nanowire devices. It was found that nanowire-nanowire junctions play a fundamental role in the device behavior: the decay time of nanowire network (τ = 52 s) is about three orders of magnitude lower than those of single nanowire (τ = 4.57 × 104 s). Additionally, it was confirmed that the PPC effect was directly related to the amount of oxygen present in the environment and it is destroyed with increasing temperature. Furthermore, the PPC effect was interpreted based on the surface effect that depends on the capture/emission of electrons by the surface states.
RESUMO
This study evaluated the effects of rosuvastatin in vivo on toxoplasmosis chronic infection. Thirty-five Swiss mice were orally infected (ME-49 strain). After 50 days, the mice were separated into five groups: GI - non-infected, GII - infected, GIII - infected and treated with pyrimethamine and sulfadiazine (12.5 + 50 mg kg-1 body weight day-1), GIV and GV - infected and treated with rosuvastatin 10 and 40 mg kg-1 body weight day-1, respectively. After 21 days, we collected blood, liver, lungs, femoral biceps and brain were removed for Toxoplasma gondii DNA quantification by qPCR and histopathological analysis. GIV and GV did not present premature death or clinical changes, and the hepatic enzyme levels were lower compared to GI. Toxoplasma gondii DNA was detected mainly in brain and muscle, but the parasite load was significantly lower in GV compared to GII brains (P < 0.05). Histopathological changes were observed in brains, with T. gondii cysts as well as an inflammatory condition, including necrosis areas in GII and GIII. These data confirm active infection with tissue injury. This inflammatory condition was attenuated in the groups treated with rosuvastatin, especially R40 (GV). Our findings demonstrated the in vivo action of rosuvastatin in reducing cerebral parasitic load and indicate that this drug may interfere in chronic toxoplasmosis.
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Antiprotozoários/farmacologia , Encéfalo/parasitologia , Rosuvastatina Cálcica/farmacologia , Toxoplasma/efeitos dos fármacos , Toxoplasmose Animal/prevenção & controle , Animais , Antiprotozoários/administração & dosagem , Doença Crônica/prevenção & controle , Modelos Animais de Doenças , Feminino , Inibidores de Hidroximetilglutaril-CoA Redutases/administração & dosagem , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Camundongos , Rosuvastatina Cálcica/administração & dosagem , Toxoplasmose Animal/parasitologiaRESUMO
Knowledge of the parasite fauna of Australian freshwater fish is fragmentary and incomplete. An understanding of fish hosts and their associated parasites is vital for the successful management of aquatic ecosystems. In this study, we surveyed the parasite fauna of carp gudgeons (Hypseleotris spp.), a complex of species of Australian freshwater fishes, using morphology and molecular data for the 18S and 28S ribosomal RNA genes. We examined 137 individuals of three different taxa in the carp gudgeon species complex and found 16 parasitic taxa of the Digenea, Cestoda, Nematoda and Arthropoda (five adults and 11 larvae). Eleven parasites are reported for the first time from the carp gudgeons (Pseudodactylogyrus sp., Gyrodactylus sp., Clinostomum sp., Paradilepis patriciae, P. cf. kempi, two unidentified species of Paradilepis, Dendrouterina sp., Parvitaenia sp., two lineages of Cyclophyllidea gen. sp., Procamallanus sp., larvae of a spirurine nematode and Lernaea sp.), in addition to Apatemon cf. hypseleotris Negm-Eldin & Davies, 2001 and the invasive tapeworm Schyzocotyle acheilognathi (Yamaguti, 1934), which were previously reported from these fish hosts. Parasite species richness was double in Lake's and Midgley's carp gudgeons relative to western carp gudgeon. These findings highlight the key role of carp gudgeons as intermediate hosts for multiple parasites with complex life cycles using native birds as definitive hosts and the usefulness of DNA data for the identification of parasite larvae.
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Carpas/parasitologia , Parasitos/classificação , Animais , Austrália , Ecossistema , Doenças dos Peixes/parasitologia , Água Doce/parasitologia , Filogenia , Especificidade da EspécieRESUMO
Species of the genus Tylodelphys (Diplostomidae) have a cosmopolitan distribution. Metacercariae of these species infect the eye, brain, pericardial sac or body cavity of fish second intermediate hosts, and the adults are found in piscivorous birds of many orders. An unnamed species of Tylodelphys from the eyes of bullies (Gobiomorphus cotidianus) was characterized molecularly and morphologically as a metacercaria in a previous study, in which it was predicted that the adult of this species would be found in the Australasian crested grebe. Two specimens of this bird became available and specimens of the unnamed Tylodelphys species were, indeed, found in them, confirmed by identity of genetic sequence data. Found to differ morphologically from its congeners, the new species is here described as Tylodelphys darbyi n. sp. Three species are closest to the new species in morphology: Tylodelphys glossoides, T. immer and T. podicipina robrauschi. Compared with T. darbyi n. sp. these three species are slightly larger and possess longer eggs. Tylodelphys glossoides also differs in having a wider oral sucker and T. podicipina robrauschi in having comma- or kidney-shaped pseudosuckers and an ovary that reaches a larger size, along with higher upper limits for body width, hind body and sucker width, holdfast and oesophagus length, and pharynx, pseudosucker and testes length and width. Tylodelphys immer also differs from T. darbyi n. sp. in having a shorter ventral sucker and the largest pseudosuckers of any Tylodelphys species.
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Doenças das Aves/parasitologia , Trematódeos/crescimento & desenvolvimento , Trematódeos/isolamento & purificação , Infecções por Trematódeos/veterinária , Animais , Australásia , Aves , Metacercárias/classificação , Metacercárias/genética , Metacercárias/crescimento & desenvolvimento , Metacercárias/isolamento & purificação , Trematódeos/classificação , Trematódeos/genética , Infecções por Trematódeos/parasitologiaRESUMO
Parasite distribution patterns in lotic catchments are driven by the combined influences of unidirectional water flow and the mobility of the most mobile host. However, the importance of such drivers in catchments dominated by lentic habitats are poorly understood. We examined parasite populations of Arctic charr Salvelinus alpinus from a series of linear-connected lakes in northern Norway to assess the generality of lotic-derived catchment-scale parasite assemblage patterns. Our results demonstrated that the abundance of most parasite taxa increased from the upper to lower catchment. Allogenic taxa (piscivorous birds as final host) were present throughout the entire catchment, whereas their autogenic counterparts (charr as final hosts) demonstrated restricted distributions, thus supporting the theory that the mobility of the most mobile host determines taxa-specific parasite distribution patterns. Overall, catchment-wide parasite abundance and distribution patterns in this lentic-dominated system were in accordance with those reported for lotic systems. Additionally, our study highlighted that upper catchment regions may be inadequate reservoirs to facilitate recolonization of parasite communities in the event of downstream environmental perturbations.
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Distribuição Animal , Lagos/parasitologia , Parasitos/fisiologia , Truta/parasitologia , Animais , Ecossistema , NoruegaRESUMO
The adult and metacercaria life stages of a new species of the microphallid genus Atriophallophorus Deblock & Rosé, 1964 are described from specimens collected at Lake Alexandrina (South Island, New Zealand). In addition to molecular analyses of ribosomal and mitochondrial genes, metacercariae of Atriophallophorus winterbourni n. sp. from the snail host Potamopyrgus antipodarum (Gray) were grown in vitro to characterize internal and external morphology of adults using light and scanning electron microscopy and histological techniques. Atriophallophorus winterbourni n. sp. is readily distinguishable from Atriophallophorus coxiellae Smith, 1973 by having a different structure of the prostatic chamber, sub-circular and dorsal to genital atrium, rather than cylindrical, fibrous, elongate and placed between the seminal vesicle and the genital atrium. The new species is most similar to Atriophallophorus minutus (Price, 1934) with regards to the prostatic chamber and the morphometric data, but possesses elongate-oval testes and subtriangular ovary rather than oval and transversely oval in A. minutus. Phylogenetic analyses including sequence data for A. winterbourni n. sp. suggested a congeneric relationship of the new species to a hitherto undescribed metacercariae reported from Australia, both forming a strongly supported clade closely related to Microphallus and Levinseniella. In addition, we provide an amended diagnosis of Atriophallophorus to accommodate the new species and confirm the sinistral interruption of the outer rim of the ventral sucker caused by the protrusion of the dextral parietal atrial scale at the base of the phallus.
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Filogenia , Caramujos/parasitologia , Trematódeos/anatomia & histologia , Trematódeos/classificação , Animais , Austrália , DNA Ribossômico/genética , Feminino , Genes Mitocondriais , Genitália/anatomia & histologia , Lagos/parasitologia , Masculino , Metacercárias/anatomia & histologia , Metacercárias/classificação , Nova ZelândiaRESUMO
Human strongyloidiasis is caused by helminth Strongyloides stercoralis. It has a worldwide distribution, often neglected and cause of severe morbidity. The parasitological diagnosis is hindered by the low and irregular amount of larvae in feces. The goal of the present study was to detect IgG and IgG immune complex using conventional serum samples and saliva as alternative samples. We collected samples from 60 individuals, namely: group I composed of 30 healthy individuals; and group II composed of 30 individuals eliminating S. stercoralis larvae in feces. We calculated the area under the curve, general index of diagnostic accuracy, Kappa index and determined the correlations between different diagnostic tests. The detection of IgG levels was performed by an immunoenzymatic assay with alkaline extract of S. venezuelensis larvae as antigen. Positivity of anti-S. stercoralis IgG in serum samples from group I was 3·3%, and from group II 93·3%. The detection of immune complex indicated that group I exhibited 3·3% and group II 56·7%. In the saliva samples, IgG detection was 26·7% for group I and 43·3% for group II. Immune complex was detected in 20% of group I, and 30% of group II. IgG immune complex in conventional serum samples and saliva as alternative samples can be considered biomarkers for the diagnosis of active strongyloidiasis.
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Complexo Antígeno-Anticorpo/análise , Antígenos de Helmintos/imunologia , Imunoglobulina G/análise , Testes Imunológicos/métodos , Saliva/química , Estrongiloidíase/diagnóstico , Animais , Anticorpos Anti-Helmínticos/sangue , Complexo Antígeno-Anticorpo/sangue , Biomarcadores/análise , Ensaio de Imunoadsorção Enzimática , Fezes/parasitologia , Humanos , Imunoglobulina G/sangue , Larva , Strongyloides stercoralis/imunologia , Estrongiloidíase/imunologiaRESUMO
Asthma is a heterogeneous disease characterised by chronic airway inflammation. One of the most devastating consequences of this inflammatory process is the generation of reactive oxygen and nitrogen species responsible for oxidative stress. The aim of this study is to analyse the efficiency of treatment with human bone marrow-derived mesenchymal stromal cells (hMSC) in maintaining the oxidative balance in a murine model of allergic asthma by quantifying nitrotyrosine in lung tissues. After confirmation of asthma in the experimental model, samples of lung parenchyma were submitted to immunohistochemical assessment. Intravenous administration of hMSC reduced the levels of nitrotyrosine in the ASTHMA-hMSC group compared to those in the ASTHMA-SAL group. In conclusion, therapeutic administration of hMSC had a beneficial effect on oxidative stress, reducing the levels of nitrotyrosine in lung tissues in a model of allergic asthma.
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Asma/terapia , Hipersensibilidade/terapia , Imunoterapia Adotiva/métodos , Pulmão/metabolismo , Transplante de Células-Tronco Mesenquimais , Células-Tronco Mesenquimais/imunologia , Tirosina/análogos & derivados , Administração Intravenosa , Animais , Antioxidantes/metabolismo , Asma/imunologia , Modelos Animais de Doenças , Humanos , Hipersensibilidade/imunologia , Pulmão/imunologia , Camundongos , Oxidantes/metabolismo , Estresse Oxidativo , Tirosina/metabolismoRESUMO
OBJECTIVE: To evaluate the influence of geographic variation on the risk of digital ulcer (DU) development in systemic sclerosis (SSc) patients. METHODS: This cross-sectional, multicentre study evaluated patients with SSc from centres located in different geographic regions of Brazil (subtropical and tropical climate zones). Demographic and clinical data were collected. RESULTS: The study included 141 patients with SSc (26 from the subtropical and 115 from the tropical zone). In total, 43 DUs were observed in 23 (16%) of the patients. By a simple logistic regression model, the presence of DUs was associated with a higher modified Rodnan skin score, previous necrosis or amputation of the extremities, flexion contracture of the fingers, active smoking, higher avascular score on capillaroscopy, higher severity of Raynaud's phenomenon, a higher Health Assessment Questionnaire Disability Index (HAQ-DI) score, a higher visual analogue scale score for Raynaud's phenomenon and overall disease, and the subtropical climate zone. Using multiple logistic regression, the presence of DUs was significantly associated with patients living in the subtropical climate zone [odds ratio (OR) = 5.4, p = 0.002], necrosis or amputation (OR = 5.2, p = 0.011), and a higher HAQ-DI score (OR = 2.6, p = 0.021). CONCLUSION: In this multicentre study in a continental country with different climates, patients with SSc living in a subtropical climate region had a 5.4 times higher risk of developing DUs than patients living in a warmer region (tropical climate), suggesting a more severe course of peripheral vasculopathy among patients living in geographic regions with relatively cold weather.
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Dedos , Sistema de Registros , Escleroderma Sistêmico/epidemiologia , Úlcera Cutânea/epidemiologia , Adulto , Brasil , Contratura/epidemiologia , Estudos Transversais , Feminino , Dedos/irrigação sanguínea , Geografia , Humanos , Modelos Logísticos , Masculino , Angioscopia Microscópica , Pessoa de Meia-Idade , Razão de Chances , Doença de Raynaud/epidemiologia , Fatores de Risco , Índice de Gravidade de Doença , Fumar/epidemiologiaRESUMO
Studies addressing chromosome variations have elucidated many points regarding the taxonomy of the Orchidaceae. Epidendrum L. besides being one the largest orchid genera, present remarkable morphological, and inter- and intraspecific chromosome variations. Thus, based on a previous report on flower color variation in individuals of E. ibaguense (magenta, pink, white, and red), our aim was to determine its chromosome number and test whether this trait is associated with flower color variation in natural populations on the Tepequém's Tepuy, Roraima. Root apices were pre-treated with 8-hydroxyquinoline at 4°C for 24 h and subsequently submitted to conventional cytogenetic procedures. Slides with the best spreading and contraction of chromosomes were photographed under light microscopy. Chromosome number was determined by counting at least 10 mitotic metaphase cells per individual. The types of interphase nuclei were determined for 30 nuclei per individual. E. ibaguense presented intra- and interpopulation variation in chromosome number, with 2n = 58, 72, and 76. The chromosome number 2n = 58 was most commonly found in individuals with magenta, pink, and white flowers, while the remaining two chromosome numbers occurred mostly in red-flowered individuals. The types of interphase nuclei were associated with the chromosome number. Individuals with 2n = 58 presented a predominance of semi-reticulated nuclei, while in those with 2n = 72 and 76 the nuclei were predominantly non-reticulated. The dominance of disploidy in E. ibaguense suggests that this cytotype provides this species with a territorial advantage and a higher reproductive success, possibly contradicting the polyploid hypothesis. Our results suggest that chromosome number may not represent a reproductive barrier in genus Epidendrum.
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Cromossomos de Plantas/genética , Orchidaceae/genética , Polimorfismo Genético , Brasil , Flores/genética , Hibridização Genética , Pigmentação/genética , PloidiasRESUMO
Atherosclerosis is a multifactorial pathological disease that alters the morphology and function of arterial walls. The atheroma growth leads to vessel hardening and lumen narrowing, limiting the blood flow. The atheroma plaque can eventually break, expose highly thrombogenic material and lead to platelet activation and subsequent formation of a thrombus that may block blood flow in loco, or even leading to obstruction of other vessels with a smaller diameter. This process is one of the main determinants of the clinical manifestations of atherosclerosis, such as coronary artery disease, ischemic stroke, and peripheral arterial disease. Although the inflammatory theory about atherosclerosis is the most renowned one, observations point to common biological characteristics between cancer and atherosclerosis suggesting a possible association between p53 and atherosclerotic diseases. We collected peripheral blood samples from 200 individuals with clinical manifestations of atherosclerotic disease and 100 individuals without manisfestation of the disease to form the control group. DNA was subjected to molecular analysis (PCR) to identify the polymorphism of the p53 gene. We have not found any relationship between the polymorphism of the p53 gene and atherosclerosis in the population studied (P = 0.36). There was no relationship between atherosclerosis, polymorphism of p53 and the variables accounted: smoking habit (P = 0.72, 0.51 and 0.62 for smokers, non-smokers and former smokers respectively), alcohol consumption (P = 0.17 for individuals with drinking habits and 0.38 for those who do not consume alcohol beverage), systemic arterial hypertension (P = 0.60), diabetes mellitus (P = 0.34), and dyslipidemia (P = 0.89). Our population has a high rate of miscegenation and heterozygotes, and according to studies the arginine variant is more related to plaque formation because it induces apoptosis more frequently when compared to the proline variant. According to our results, there is no association between the polymorphism of the p53 gene, atherosclerosis and its risk factors in the population studied.
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Aterosclerose/genética , Polimorfismo de Nucleotídeo Único , Proteína Supressora de Tumor p53/genética , Consumo de Bebidas Alcoólicas/epidemiologia , Aterosclerose/epidemiologia , Estudos de Casos e Controles , Diabetes Mellitus/epidemiologia , Humanos , Fumar/epidemiologiaRESUMO
Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of amino acids, lipids, and carbohydrates. Glutathione S-transferases (GST) are enzymes that catalyze the polymorphic detoxification of metabolites produced by oxidative stress within the cells, which is induced by reactive oxygen species. GSTs are one of the defense mechanisms against oxidative stress damage. Due to genetic, cultural, and environmental factors, the rate of atherosclerosis is higher; however, an early diagnosis is crucial for the prevention and treatment of several complications related to the disease. The present study aimed to analyze the frequency of GSTT1 genotypes regarding the presence or absence of the polymorphism in patients with clinical manifestation of atherosclerosis. We collected 200 samples of peripheral blood of patients with the previous diagnosis of atherosclerosis based on clinical examination and imaging, and 100 samples of peripheral blood to compose the control group of patients without clinical manifestation of atherosclerosis. The polymorphism was assessed by PCR and analyzed on the agarose gel stained with 2.0% ethidium bromide. The frequency of the GSTT1 gene polymorphism was compared using the chi-square test (P < 0.05) and the G-test. In the case group, we detected 85.5% of patients with the GSTT1 genotype present and 14.5% of patients with the null genotype. A significant difference was observed between groups (case vs control) for the presence of the GSTT1 polymorphism. According to the analysis of the variable alcohol consumption, we found that in the case group the presence of the GSTT1 gene was higher in individuals who reported not drinking alcohol. In this study, the presence of the GSTT1 gene polymorphism in male patients with atherosclerosis was 1.5 times higher when compared to female patients. Regarding the variable time of smoking, we found that this genotype was more frequent in smokers for both case and control groups.
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Aterosclerose/genética , Glutationa Transferase/genética , Polimorfismo Genético , Aterosclerose/patologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia, and smoking are widely known. Currently, genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (an important arterial vasodilator), when presented in polymorphic variation can determine production, malfunction, and predisposition to atherosclerosis. In the present study, we analyzed the G894T polymorphism of the eNOS gene in groups of individuals diagnosed with atherosclerosis and in a control group. We collected 200 blood samples from patients previously diagnosed with atherosclerosis and 100 samples formed the control group. The genotyping analysis for polymorphism of the eNOS gene was determined by PCR. We considered variables such as gender, smoking, smoking history, and alcohol consumption; statistical differences were found in the distribution of case and control groups (P = 0.0378) and in non-smoking patients (P = 0.0263). In the other associations, no statistically significant difference was found. In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other populations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to atherosclerosis. Association of the GG genotype in non-smokers also showed greater susceptibility. Gender, alcohol consumption, smoking, and smoking history did not influence atherosclerosis.
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Aterosclerose/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido IncorretoRESUMO
The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chi-square test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.
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Doença da Artéria Coronariana/genética , Mutação de Sentido Incorreto , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Feminino , Humanos , MasculinoRESUMO
Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol levels, sedentary lifestyle, and stress; the non-modifiable factors include diabetes mellitus, family history of hypertension and heart disease, thrombophilia, sex, age, and genetic factors. The association of polymorphisms in GST with coronary artery disease has been studied since the polymorphisms can affect enzyme activity and contribute to the onset of atherosclerosis. We analyzed polymorphisms in GSTM1 in individuals diagnosed with atherosclerosis as well as in healthy individuals (control group). The frequency of the GSTM1 present genotype in the atherosclerosis group was 1.2 times higher than that observed in the control group. We found no sex- or alcohol-consumption-dependent differences between the occurrences of the present and null genotypes. However, the GSTM1 present genotype occurred in 52.6% individuals with atherosclerosis who reported smoking 20 or more cigarettes per day and in 60% individuals who smoked 10 to 20 cigarettes per day (P = 0.0035). In addition, the GSTM1 present genotype was more frequent in individuals who reported being former smokers - 45.5% in individuals with atherosclerosis who smoked for more than 20 years and 50% each for individuals in the control group who smoked for less than 10 years or for 10 to 20 years, respectively (P = 0.0240).
Assuntos
Aterosclerose/genética , Aterosclerose/patologia , Glutationa Transferase/genética , Polimorfismo Genético , Fumar/patologia , Aterosclerose/epidemiologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fumar/epidemiologiaRESUMO
Among eyeflukes, Tylodelphys Diesing, 1850 includes diverse species able to infect the eyes, but also the brain, pericardial sac and body cavity of their second intermediate host. While the genus shows a cosmopolitan distribution with 29 nominal species in Africa, Asia, Europe and America, a likely lower research effort has produced two records only for all of Australasia. This study provides the first description of a species of Tylodelphys and the first record for a member of the Diplostomidae in New Zealand. Tylodephys sp. metacercaria from the eyes of Gobiomorphus cotidianus McDowall, 1975 is distinguished from its congeners as being larger in all, or nearly all, metrics than Tylodelphys clavata (von Nordmann, 1832), T. conifera (Mehlis, 1846) and T. scheuringi (Hughes, 1929); whereas T. podicipina Kozicka & Niewiadomska, 1960 is larger in body size, ventral sucker and holdfast sizes and T. ophthalmi (Pandey, 1970) has comparatively a very small pharynx and body spination. Tylodelphys sp. exhibits consistent genetic variation for the 28S rDNA, internal transcribed spacer (ITS) and Cox1 genes, and phylogenetic analyses confirm that it represents an independent lineage, closely related to North American species. Morphological and molecular results together support the distinct species status of Tylodephys sp. metacercaria, the formal description and naming of which await discovery of the adult. Furthermore, the validity of T. strigicola Odening, 1962 is restored, T. cerebralis Chakrabarti, 1968 is proposed as major synonym of T. ophthalmi, and species described solely on the basis of metacercariae are considered incertae sedis, except those for which molecular data already exist.
Assuntos
Trematódeos/classificação , Trematódeos/isolamento & purificação , Vertebrados/parasitologia , Estruturas Animais/anatomia & histologia , Animais , Análise por Conglomerados , DNA de Helmintos/química , DNA de Helmintos/genética , DNA Ribossômico/química , DNA Ribossômico/genética , DNA Espaçador Ribossômico/química , DNA Espaçador Ribossômico/genética , Complexo IV da Cadeia de Transporte de Elétrons/genética , Olho/parasitologia , Microscopia , Nova Zelândia , Filogenia , RNA Ribossômico 28S/genética , Análise de Sequência de DNA , Trematódeos/anatomia & histologia , Trematódeos/genéticaRESUMO
Many helminth taxa have complex life cycles, involving different life stages infecting different host species in a particular order to complete a single generation. Although the broad outlines of these cycles are known for any higher taxon, the details (morphology and biology of juvenile stages, specific identity of intermediate hosts) are generally unknown for particular species. In this review, we first provide quantitative evidence that although new helminth species are described annually at an increasing rate, the parallel effort to elucidate life cycles has become disproportionately smaller over time. We then review the use of morphological matching, experimental infections and genetic matching as approaches to elucidate helminth life cycles. Next we discuss the various research areas or disciplines that could benefit from a solid knowledge of particular life cycles, including integrative taxonomy, the study of parasite evolution, food-web ecology, and the management and control of parasitic diseases. Finally, we end by proposing changes to the requirements for new species descriptions and further large-scale attempts to genetically match adult and juvenile helminth stages in regional faunas, as part of a plea to parasitologists to bring parasite life-cycle studies back into mainstream research.