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1.
Children (Basel) ; 11(4)2024 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-38671657

RESUMO

Parental involvement (PI) has particular relevance on children's academic adjustment and on children's general quality of life (QoL). QoL can be influenced by parental stress, specifically the stress suffered during the COVID-19 pandemic. Thus, this study aimed to analyze the differences during the pandemic period (before, after and with no lockdown), comparing these constructs with parental educational level to provide predictors of their children's quality of life. Data collection was performed with a non-probability convenience sampling procedure. It was composed of 129 parents, mainly women (71.8%), with children aged between 6 and 12 years. The family's sociodemographic characteristics were assessed, as well as the PI, parental stress, and children's QoL. The comparison between the three times revealed an increase in the children's QoL, but no differences were found in PI. Based on the parental educational level, as defined by academic qualifications and split into superior and non-superior levels, it is possible conclude that engagement in school activities and parents' meetings increased in the parents with superior education levels and decreased in the parents with lower education levels. This study concluded that despite this difficult and uncertain pandemic period, these parents were able to maintain important aspects of their children's lives.

2.
World J Gastrointest Oncol ; 16(1): 234-243, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38292846

RESUMO

BACKGROUND: In patients with metastatic colorectal cancer (mCRC), the treatment options are limited and have been proved to be affected by rat sarcoma virus (RAS) mutational status. In RAS wild-type (wt) patients, the combination of anti-epidermal growth factor receptor (EGFR) monoclonal antibodies with chemotherapy (CT) is more effective than CT alone. On the other hand, RAS-mutated patients are not eligible for treatment with anti-EGFR antibodies. CASE SUMMARY: Eleven patients with initially RAS-mutated mCRC were followed from diagnosis to May 2022. At the time of cell-free DNA determination, five patients had undergone one CT line, five patients had undergone two CT lines, and one patient had undergone three CT lines (all in combination with bevacizumab). At the second and third treatment lines [second line (2L), third line (3L)], patients with neo-RAS wt received a combination of CT and cetuximab. In neo-RAS wt patients treated with anti-EGFR, our findings indicated an increase in progression-free survival for both 2L and 3L (14.5 mo, P = 0.119 and 3.9 mo, P = 0.882, respectively). Regarding 2L overall survival, we registered a slight increase in neo-RAS wt patients treated with anti-EGFR (33.6 mo vs 32.4 mo, P = 0.385). At data cut-off, two patients were still alive: A RAS-mutated patient undergoing 3L treatment and a neo-RAS wt patient who received 2L treatment with anti-EGFR (ongoing). CONCLUSION: Our case series demonstrated that monitoring RAS mutations in mCRC by liquid biopsy may provide an additional treatment line for neo-RAS wt patients.

3.
Am J Phys Med Rehabil ; 98(10): 872-878, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31584880

RESUMO

OBJECTIVE: The aim of the study was to assess the time effect of intra-articular injection with triamcinolone hexacetonide in rheumatic patients. DESIGN: A prospective case-control study with patients submitted to one intra-articular injection with triamcinolone hexacetonide. Patients were followed monthly (12 mos) for pain and swelling. RESULTS: Two hundred sixty-two joints were assessed in 158 patients with mean ± SD age of 60 ± 13.7 yrs. Remission was observed at 3, 6, and 12 mos in 142 (54.19%), 111 (42.36%), and 105 (40.07%) joints, respectively. The mean ± SD time effect were 8 ± 4.0 mos; 8.4 ± 3.9 for rheumatoid arthritis patients and 6.9 ± 4.0 for osteoarthritis patients (P = 0.012) and 10.4 ± 2.7 mos for small, 7.7 ± 4.1 for medium, and 6.8 ± 4.0 for large joints. The joints were divided into two groups: long-term group (time effect of intra-articular injection longer than 6 mos) and short-term group. The following are the variables associated (P < 0.05) with long-term group: rheumatoid arthritis, small and medium-sized joints, female sex, lower pain and swelling visual analog scale scores, and use of leflunomide. The following are the variables associated with short-term group: receiving only one intra-articular injection, hypertension, diabetes mellitus, and biological therapy. CONCLUSIONS: The mean ± SD time effect of intra-articular injection with triamcinolone hexacetonide was 8.0 ± 4.0 mos. The associated predictors were rheumatoid arthritis, small and medium joints, lower pain/swelling visual analog scale scores, and use of leflunomide.


Assuntos
Anti-Inflamatórios/administração & dosagem , Artralgia/tratamento farmacológico , Artrite Reumatoide/tratamento farmacológico , Fatores de Tempo , Triancinolona Acetonida/análogos & derivados , Idoso , Artralgia/etiologia , Artrite Reumatoide/complicações , Estudos de Casos e Controles , Feminino , Humanos , Injeções Intra-Articulares , Articulações/fisiopatologia , Masculino , Pessoa de Meia-Idade , Osteoartrite/complicações , Osteoartrite/tratamento farmacológico , Medição da Dor , Estudos Prospectivos , Resultado do Tratamento , Triancinolona Acetonida/administração & dosagem
4.
Acta Med Port ; 32(7-8): 483-487, 2019 08 01.
Artigo em Português | MEDLINE | ID: mdl-31445527

RESUMO

Coronary heart disease is the single most common cause of death globally, accounting for one-third of all deaths. However, with falling coronary heart disease mortality rates, an increasing number of people live with the disease and may need support to manage their symptoms and prognosis. A complex intervention that may involve a variety of therapies, cardiac rehabilitation includes exercise, risk factor education, behavioral change, psychological support, and strategies that are aimed at targeting traditional risk factors for cardiovascular disease. Cardiac rehabilitation is an essential part of contemporary heart disease care and is considered a priority in countries with a high prevalence of coronary heart disease. This Cochrane systematic review constitutes an update of a Cochrane review published in 2011, having identified 16 new trials (3872 participants), predominantly post-myocardial infarction and post-revascularization patients. Therefore, it included 63 randomized trials looking at the effectiveness and cost-effectiveness of exercise-based cardiac rehabilitation in patients with coronary heart disease. The quality of the evidence ranged from low to moderate. The main results highlight the effect of cardiac rehabilitation, in comparison with absence of physical exercise, in the reduction in cardiovascular mortality, with no reduction, however, in total mortality. The overall risk of hospital admissions was reduced with cardiac rehabilitation but there was no significant impact on the risk of myocardial infarction, coronary artery bypass graft or percutaneous coronary intervention. This paper aims to summarize and discuss the main results and conclusions of this systematic review, as well as its implications for the daily clinical practice.


A doença coronária, responsável por um terço de todas as mortes, é a causa de morte mais comum em todo o mundo. Todavia, com o decréscimo das taxas de mortalidade associadas a esta patologia, observa-se um número crescente de doentes com a doença, com aumento da necessidade de gestão dos seus sintomas e prognóstico. A reabilitação cardíaca, componente essencial do tratamento contemporâneo da doença arterial coronária, é uma intervenção complexa que envolve variadas técnicas, incluindo exercício físico, correção dos fatores de risco cardiovasculares tradicionais, terapia comportamental e apoio psicológico, sendo considerada uma prioridade em países em que a prevalência da doença é elevada. Esta revisão sistemática Cochrane constitui uma atualização de uma revisão Cochrane publicada em 2011, tendo identificado 16 novos ensaios clínicos (3872 doentes), predominantemente em status pós-enfarte agudo do miocárdio e pós-cirurgia de revascularização miocárdica. Incluiu, assim, 63 ensaios clínicos aleatorizados que estudaram a eficácia e o custo-efetividade da reabilitação cardíaca baseada no exercício físico, em pacientes com doença arterial coronária. A confiança na evidência científica variou de baixa a moderada. Dos principais resultados destaca-se o efeito da reabilitação cardíaca, em comparação com a ausência de exercício físico, na redução na mortalidade cardiovascular, todavia sem redução da mortalidade total. Apesar da reabilitação cardíaca ter diminuído o risco global de internamento hospitalar, o mesmo não se verificou para o risco de enfarte, cirurgia de revascularização miocárdica ou intervenção coronária percutânea. Neste artigo sumarizam-se e discutem-se os principais resultados, conclusões e implicações desta revisão sistemática para a prática clínica.


Assuntos
Reabilitação Cardíaca , Doença das Coronárias , Exercício Físico , Terapia por Exercício , Humanos , Qualidade de Vida
5.
Pediatr Infect Dis J ; 37(10): 1054-1060, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30216295

RESUMO

BACKGROUND: Pneumococcal carriage is a precursor of invasive pneumococcal disease. Mozambique introduced 10-valent pneumococcal conjugate vaccine (PCV10) in April 2013, using a 3-dose schedule without a booster. We evaluated PCV10 impact on pneumococcal carriage and colonization density by HIV status. METHODS: We conducted 2 cross-sectional surveys (pre and post PCV10 introduction) among children 6 weeks to 59 months old. Participants included HIV-infected children presenting for routine care at outpatient clinics and a random sample of HIV-uninfected children from the community. We collected demographic data, vaccination history and nasopharyngeal swabs. Swabs were cultured and isolates serotyped by Quellung. We selected serotypes 11A, 19A and 19F for bacterial density analyses. We compared vaccine-type (VT) carriage prevalence from the pre-PCV10 with the post-PCV10 period by HIV status. FINDINGS: Prevalence of VT carriage declined from 35.9% (110/306) pre already defined in the background. It should be pre-PCV (PCV) to 20.7% (36/174 fully vaccinated) post PCV (P < 0.001) in HIV-uninfected and from 34.8% (144/414) to 19.7% (27/137 fully vaccinated) (P = 0.002) in HIV-infected children. Colonization prevalence for the 3 serotypes (3, 6A, 19A) included in the 13-valent PCV but not in PCV10 increased from 12.4% (38/306) to 20.7% (36/174 fully vaccinated) (P = 0.009) among HIV- uninfected children, mainly driven by 19A; no significant increase was observed in HIV-infected children. VT carriage among unvaccinated children decreased by 30% (P = 0.005) in HIV-infected children, with no significant declines observed in HIV-uninfected children. CONCLUSION: Declines in VT carriage were observed in both HIV-uninfected and HIV-infected children after PCV10 introduction with an early signal of herd effect especially in HIV-infected children. Ongoing monitoring of increases in 19A carriage and disease is necessary.


Assuntos
Portador Sadio/epidemiologia , Portador Sadio/microbiologia , Programas de Imunização , Infecções Pneumocócicas/epidemiologia , Vacinas Pneumocócicas/administração & dosagem , Pré-Escolar , Estudos Transversais , Feminino , Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Humanos , Lactente , Masculino , Moçambique/epidemiologia , Nasofaringe/microbiologia , Prevalência , População Rural , Sorogrupo , Streptococcus pneumoniae/isolamento & purificação , Vacinação , Vacinas Conjugadas/administração & dosagem
6.
PLoS One ; 13(2): e0191113, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29447196

RESUMO

Nasopharyngeal carriage is a precursor for pneumococcal disease and can be useful for evaluating pneumococcal conjugate vaccine (PCV) impact. We studied pre-PCV pneumococcal carriage among HIV-infected and -uninfected children in Mozambique. Between October 2012 and March 2013, we enrolled HIV-infected children age <5 years presenting for routine care at seven HIV clinics in 3 sites, including Maputo (urban-south), Nampula (urban-north), and Manhiça (rural-south). We also enrolled a random sample of HIV-uninfected children <5 years old from a demographic surveillance site in Manhiça. A single nasopharyngeal swab was obtained and cultured following enrichment in Todd Hewitt broth with yeast extract and rabbit serum. Pneumococcal isolates were serotyped by Quellung reaction and multiplex polymerase chain reaction. Factors associated with pneumococcal carriage were examined using logistic regression. Overall pneumococcal carriage prevalence was 80.5% (585/727), with similar prevalences among HIV-infected (81.5%, 339/416) and HIV-uninfected (79.1%, 246/311) children, and across age strata. Among HIV-infected, after adjusting for recent antibiotic use and hospitalization, there was no significant association between study site and colonization: Maputo (74.8%, 92/123), Nampula (83.7%, 82/98), Manhiça (84.6%, 165/195). Among HIV-uninfected, report of having been born to an HIV-infected mother was not associated with colonization. Among 601 pneumococcal isolates from 585 children, serotypes 19F (13.5%), 23F (13.1%), 6A (9.2%), 6B (6.2%) and 19A (5.2%) were most common. The proportion of serotypes included in the 10- and 13-valent vaccines was 44.9% and 61.7%, respectively, with no significant differences by HIV status or age group. Overall 36.9% (n = 268) of children were colonized with a PCV10 serotype and 49.7% (n = 361) with a PCV13 serotype. Pneumococcal carriage was common, with little variation by geographic region, age, or HIV status. PCV10 was introduced in April 2013; ongoing carriage studies will examine the benefits of PCV10 among HIV-infected and-uninfected children.


Assuntos
Infecções Pneumocócicas/imunologia , Vacinas Pneumocócicas/administração & dosagem , Vacinas Pneumocócicas/uso terapêutico , Portador Sadio/epidemiologia , Pré-Escolar , Feminino , Infecções por HIV/imunologia , Infecções por HIV/microbiologia , Humanos , Lactente , Recém-Nascido , Masculino , Testes de Sensibilidade Microbiana/métodos , Moçambique/epidemiologia , Nasofaringe/imunologia , Infecções Pneumocócicas/fisiopatologia , Prevalência , População Rural , Sorogrupo , Streptococcus pneumoniae/imunologia , Streptococcus pneumoniae/patogenicidade , Vacinas Conjugadas/administração & dosagem , Vacinas Conjugadas/uso terapêutico
7.
Asian-Australas J Anim Sci ; 27(3): 431-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25049971

RESUMO

The study was carried out in order to verify the effects of piglets' weight at birth on their surface temperature change (ST) after birth, and its relationship with ingestion time of colostrum. Piglets from four different sows were weighed at birth and divided into a totally randomized design with three treatments according to birth weight (PBW): T1 - less than 1.00 kg, T2 - 1.00 to 1.39 kg, and T3 - higher than or equal to 1.40 kg. The time spent for the first colostrum ingestion was recorded (TFS). Images of piglets' surface by thermal imaging camera were recorded at birth (STB) and 15, 30, 45, 60, and 120 min after birth. The air temperature and relative humidity were recorded every 30 min and the indexes of temperature and humidity (THI) were calculated. A ST drop after 15 min from birth was observed, increasing again after sixty minutes. Positive correlations were found between the PBW and the ST at 30 and 45 min after birth. The PBW was negatively correlated with the TFS. The THI showed high negative correlations (-0.824 and -0.815) with STB and after 15 min from birth. The piglet's surface temperature at birth was positively correlated with temperature thereof to 15 min, influencing therefore the temperatures in the interval of 45 to 120 min. The birth weight contributes significantly to postnatal hypothermia and consequently to the time it takes for piglets ingest colostrum, requiring special attention to those of low birth weight.

8.
Oxid Med Cell Longev ; 2011: 804873, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21922038

RESUMO

BACKGROUND: Handball is considered an intermittent sport that places an important stress on a player's aerobic and anaerobic metabolism. However, the oxidative stress responses following a handball game remain unknown. We investigated the responses of plasma and erythrocyte antioxidant system and oxidative stress biomarkers following a single handball game. METHODS: Fourteen male elite Brazilian handball athletes were recruited in the present study. Blood samples were taken before, immediately, and 24 hours after the game. RESULTS: After the game and during 24 hours of recovery, the concentration of all oxidative stress indices changed significantly in a way indicating increased oxidative stress in the blood (thiol groups and reduced glutathione decreased, whereas TBARS and plasma antioxidant capacity was increased) as well as in erythrocyte (increased levels of TBARS and protein carbonyls). Erythrocyte antioxidant enzyme activities were also significantly changed by handball. Muscle damage indices (creatine kinase and lactate dehydrogenase) increased significantly after exercise. In addition, IL-6 increased after the game, whereas TNF-α decreased during recovery. CONCLUSION: This study demonstrates that a single handball game in elite athletes induces a marked state of oxidative stress evidenced by the oxidative modification in plasma and erythrocyte macromolecules, as well as by changes in the enzymatic and nonenzymatic antioxidant system.


Assuntos
Citocinas/metabolismo , Estresse Oxidativo/fisiologia , Adulto , Biomarcadores/sangue , Biomarcadores/metabolismo , Creatina Quinase/metabolismo , Eritrócitos/enzimologia , Eritrócitos/imunologia , Eritrócitos/metabolismo , Glutationa/metabolismo , Humanos , Interleucina-6/metabolismo , L-Lactato Desidrogenase/metabolismo , Masculino , Esportes , Substâncias Reativas com Ácido Tiobarbitúrico/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
9.
PLoS One ; 5(11): e14140, 2010 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-21152440

RESUMO

BACKGROUND: Detailed analysis of the dynamic interactions among biological, environmental, social, and economic factors that favour the spread of certain diseases is extremely useful for designing effective control strategies. Diseases like tuberculosis that kills somebody every 15 seconds in the world, require methods that take into account the disease dynamics to design truly efficient control and surveillance strategies. The usual and well established statistical approaches provide insights into the cause-effect relationships that favour disease transmission but they only estimate risk areas, spatial or temporal trends. Here we introduce a novel approach that allows figuring out the dynamical behaviour of the disease spreading. This information can subsequently be used to validate mathematical models of the dissemination process from which the underlying mechanisms that are responsible for this spreading could be inferred. METHODOLOGY/PRINCIPAL FINDINGS: The method presented here is based on the analysis of the spread of tuberculosis in a Brazilian endemic city during five consecutive years. The detailed analysis of the spatio-temporal correlation of the yearly geo-referenced data, using different characteristic times of the disease evolution, allowed us to trace the temporal path of the aetiological agent, to locate the sources of infection, and to characterize the dynamics of disease spreading. Consequently, the method also allowed for the identification of socio-economic factors that influence the process. CONCLUSIONS/SIGNIFICANCE: The information obtained can contribute to more effective budget allocation, drug distribution and recruitment of human skilled resources, as well as guiding the design of vaccination programs. We propose that this novel strategy can also be applied to the evaluation of other diseases as well as other social processes.


Assuntos
Vigilância da População/métodos , Tuberculose/prevenção & controle , Tuberculose/transmissão , Brasil/epidemiologia , Geografia , Humanos , Incidência , Densidade Demográfica , Dinâmica Populacional , Fatores Socioeconômicos , Tuberculose/epidemiologia
10.
Cell Biochem Funct ; 28(5): 394-402, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20589735

RESUMO

The in vitro effect of testosterone on human neutrophil function was investigated. Blood neutrophils from healthy male subjects were isolated and treated with 10 nM, 0.1 and 10 microM testosterone for 24 h. As compared with untreated cells, the testosterone treatment produced a significant decrease of superoxide production as indicated by the measurement of extra- and intracellular superoxide content. An increment in the production of nitric oxide was observed at 0.1 and 10 microM testosterone concentrations, whereas no effect was found for 10 nM. Intracellular calcium mobilization was significantly increased at 10 nM, whereas it was reduced at 10 microM testosterone. There was an increase in phagocytic capacity at 10 nM and a decrease of microbicidal activity in neutrophils treated with testosterone at 10 microM. Glutathione reductase activity was increased by testosterone treatment, whereas no effect was observed in other antioxidant enzyme activities. An increase in the content of thiol groups was observed at all testosterone concentrations. Lipid peroxidation in neutrophils evaluated by levels of TBARS was decreased at 10 nM and 0.1 microM testosterone. These results indicate the antioxidant properties of testosterone in neutrophils as suggested by reduction of superoxide anion production, and lipid peroxidation, and by the increase in nitric oxide production, glutathione reductase activity and the content of thiol groups. Therefore, the plasma levels of testosterone are important regulators of neutrophil function and so of the inflammatory response.


Assuntos
Neutrófilos/efeitos dos fármacos , Estresse Oxidativo , Testosterona/farmacologia , Cálcio/metabolismo , Glutationa Redutase/metabolismo , Humanos , Peroxidação de Lipídeos , Masculino , Neutrófilos/imunologia , Neutrófilos/metabolismo , Óxido Nítrico/metabolismo , Superóxidos/metabolismo , Fatores de Tempo
11.
Hum Genet ; 118(5): 578-90, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16249884

RESUMO

The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition. Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt the novel human KIAA1202 (hKIAA1202) gene in both cases. We also identified a missense exchange in this gene, segregating with the Stocco dos Santos XLMR syndrome in a large four-generation pedigree but absent in >1,000 control X-chromosomes. Among other phenotypic characteristics, the affected males in this family present with severe MR, delayed or no speech, seizures and hyperactivity. Molecular studies of hKIAA1202 determined its genomic organisation, its expression throughout the brain and the regulation of expression of its mouse homologue during development. Transient expression of the wild-type KIAA1202 protein in HeLa cells showed partial colocalisation with the F-actin based cytoskeleton. On the basis of its domain structure, we argue that hKIAA1202 is a new member of the APX/Shroom protein family. Members of this family contain a PDZ and two ASD domains of unknown function and have been shown to localise at the cytoskeleton, and play a role in neurulation, cellular architecture, actin remodelling and ion channel function. Our results suggest that hKIAA1202 may be important in cognitive function and/or development.


Assuntos
Deficiência Intelectual Ligada ao Cromossomo X/genética , Mutação , Sequência de Aminoácidos , Animais , Sequência de Bases , Cromossomos Humanos X , Clonagem Molecular , DNA , Humanos , Camundongos , Dados de Sequência Molecular , Mutagênese , Homologia de Sequência de Aminoácidos , Homologia de Sequência do Ácido Nucleico , Frações Subcelulares/metabolismo , Translocação Genética
12.
Mycopathologia ; 159(2): 251-3, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15770451

RESUMO

The purpose of this study was to isolate yeast (Candida) from the quarter milk of cow udders from 37 dairy farms in Brazil and to identify the different species involved in mastitis. The samples were collected between October 2002 and February 2003. Two-hundred-and-sixty milk samples from cows with clinical and subclinical mastitis were examined. Milk samples were plated onto Blood agar, Mac Conkey agar and Sabouraud dextrose agar. Forty-five (17.3%) samples were positive for the genus Candida. The Candida species isolated were C. krusei (44.5%), C. rugosa (24.5%), C. albicans (8.9%), C. guilliermondii (8.9%), and others (13.2%). We also isolated Escherichia coli (26.5%), coagulase-positive Staphylococcus (25.0%), Streptococcus spp. (8.1%), Enterobacter spp. (8.1%), and other fungi (8.1%), among others.


Assuntos
Candida/isolamento & purificação , Mastite Bovina/microbiologia , Leite/microbiologia , Animais , Brasil , Bovinos , Feminino
13.
Am J Med Genet A ; 118A(3): 255-9, 2003 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-12673656

RESUMO

Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983.


Assuntos
Cromossomos Humanos X , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Deficiência Intelectual Ligada ao Cromossomo X/genética , Mapeamento Cromossômico , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Linhagem , Fenótipo , Síndrome
14.
Am J Med Genet A ; 118A(1): 49-51, 2003 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-12605440

RESUMO

This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome.


Assuntos
Deficiência Intelectual Ligada ao Cromossomo X/genética , Adulto , Feminino , Marcadores Genéticos , Humanos , Masculino , Linhagem
15.
Artigo em Inglês | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469441

RESUMO

This study has detected BPV-1 DNA sequences in wart, blood and plasma samples collected from animals affected by papillomatosis, suggesting viral presence inside the cell. We sellected an animal in which we could detect BPV-1 DNA sequences in wart, blood, placenta and amniotic liquid samples and her offspring which presented BPV-1 DNA sequences in blood sample collected immediately after birth. These results show a possible vertical transmission of BPV-1.


Neste estudo detectou-se DNA de BPV-1 em: verruga, sangue e plasma de animais afetados por papilomatose. Estes resultados trazem evidências sobre possível localização intracelular do BPV-1 no sangue. Avaliamos um animal afetado por papilomatose e positivo para BPV-1 em amostras de verruga, sangue, placenta e líquido amniótico e que teve sua cria recém-nascida também positiva para BPV-1 no sangue. Estes resultados indicam possível transmissão vertical do BPV-1.

16.
Artigo em Inglês | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469443

RESUMO

Papillomaviruses are described selectively infecting epithelial tissues and are associated with many forms of cancer in different species. Considering the widespread dissemination of papillomatosis in livestock, interest is being centred on possible forms of viral transmission and respective mechanisms. In the present study, we report the detection of bovine papillomavirus (BPV) DNA sequences in female reproductive tract tissues, fluids and oocytes from slaughtered bovines not afflicted by cutaneous papillomatosis. BPV-2 DNA sequences were found in ovarian and uterine tissues as well as in oocytes, cumulus cells and uterine flushings. The presence of papillomavirus sequences in reproductive organ tissues and fluids shows that viral infection in organisms can be verified in others tissues, not only in epithelial ones. The present findings alert to the possibility of BPV transmission in embryo transfer programs and assisted fertilization procedures.


Os vírus do papiloma bovino, descritos como agentes infectantes específicos do epitélio, têm sido associados a diversas formas de câncer em diferentes espécies animais. Dada a intensa disseminação da papilomatose nos rebanhos, a investigação de diferentes formas de transmissão e seus respectivos mecanismos tem exigido especial atenção. No presente estudo, é relatada a detecção de seqüências genômicas do papilomavirus bovino (BPV) em ovócitos e tecidos do trato reprodutivo oriundos de fêmeas abatidas comercialmente, não apresentando papilomatose cutânea. A presença de DNA de BPV-2 em tecidos do trato reprodutivo, lavado uterino, ovócitos e células do cumulus traz evidências de que a infecção viral pode se desenvolver fora do tecido epitelial. Esses achados alertam para a possibilidade de transmissão do BPV através dos procedimentos de transferência de embriões e de fertilização in vitro.

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