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1.
JBI Evid Implement ; 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39011975

RESUMO

INTRODUCTION AND OBJECTIVES: Effectiv. e management of post-operative pain improves the condition of patients and reduces their hospital stay. This, in turn, has an impact on caregivers, professionals, and institutions and, as such, is considered a primary indicator of quality. The aim of this project was to improve the assessment and management of post-surgical pain in thoracic surgery patients. METHODS: This implementation project was conducted in a thoracic surgery unit of a tertiary hospital in Spain. The project was guided by the JBI Evidence Implementation Framework, which is grounded in an audit, feedback, and re-audit strategy. A baseline audit was conducted with 44 patients, and barriers to best practice were identified. Strategies were then implemented to improve the assessment and management of post-operative pain. Three follow-up audits were performed using nine audit criteria with 34, 40, and 46 patients, respectively. RESULTS: The baseline audit revealed poor compliance with best practices. After implementing strategies to address areas of non-compliance, health education for patients and caregivers improved up to 80%, while the measurement of pain upon admission and post-surgery rose to 91%. However, patients undergoing pre-operative assessment to guide their post-operative pain management at hospital discharge remained below 50%. CONCLUSIONS: Using a methodology to implement best practices, together with clinical audits, improved compliance with the use of validated scales to assess and manage pain. A multidisciplinary approach improves the quality of care received by patients and contributes to their recovery. SPANISH ABSTRACT: http://links.lww.com/IJEBH/A240.

2.
Edumecentro ; 14: e2426, 2022.
Artigo em Espanhol | LILACS | ID: biblio-1404629

RESUMO

RESUMEN Introducción: la enseñanza problémica es considerada por muchos pedagogos como la forma de proceder más eficiente que puede adoptar el profesor durante el proceso enseñanza aprendizaje. Es uno de los modelos de aprendizaje que desarrolla el pensamiento creativo del estudiante. Objetivo: analizar el valor metodológico del método problémico en la formación del estudiante de Medicina, como necesidad y no como alternativa en el proceso de enseñanza aprendizaje. Métodos: se realizó una revisión bibliográfica sistemática para desarrollar un análisis del contenido de documentos: tesis de doctorado, maestrías, artículos originales y de revisión publicados entre 2007 y 2022 en español. Se consultaron 25 artículos y seleccionaron 20. La búsqueda fue realizada en las bases de datos SciELO y Google Académico de diciembre a febrero de 2022. Tras la identificación de los estudios preseleccionados, se llevó a cabo la lectura de los títulos, resúmenes y palabras clave para comprobar su pertinencia con el estudio. Desarrollo: asumir los métodos problémicos en la enseñanza de la Medicina significa apropiarse de métodos productivos y activos; constituye una vía para resolver los problemas profesionales y favorece el proceso de desarrollo autónomo y creador del estudiante. Conclusiones: en la formación del estudiante de Medicina los métodos problémicos constituyen una necesidad, una vía efectiva para lograr el desarrollo del pensamiento lógico; permiten acercarlo a la investigación científica.


ABSTRACT Introduction: problem teaching is considered by many pedagogues as the most efficient way of proceeding that the teacher can adopt during the teaching-learning process. It is one of the learning models that develops the student's creative thinking. Objective: to analyze the methodological value of the problematic method in the formation of the Medicine student, as a necessity and not as an alternative in the teaching-learning process. Methods: A systematic bibliographic review was carried out to develop an analysis of the content of documents: doctoral theses, master's degrees, original and review articles published between 2007 and 2022 in Spanish. 25 articles were consulted and 20 were selected. The search was carried out in the SciELO and Google Scholar databases from December to February 2022. After identifying the pre-selected studies, the titles, abstracts and keywords were read. To check its relevance to the study. Development: assuming the problematic methods in the teaching of Medicine means appropriating productive and active methods, it constitutes a way to solve professional problems. It favors the process of autonomous and creative development of the student. Conclusions: in the formation of the medical student, the problem methods constitute a necessity, an effective way to achieve the development of logical thinking, they allow him to approach scientific research.


Assuntos
Educação de Graduação em Medicina , Educação Médica , Educação Profissionalizante , Aprendizagem
3.
Edumecentro ; 13(1): 236-251, ene.-mar. 2021.
Artigo em Espanhol | LILACS | ID: biblio-1149243

RESUMO

RESUMEN Introducción: el gobierno cubano dedica esfuerzos y recursos al perfeccionamiento de la labor del docente y la formación de los estudiantes en los diferentes niveles de enseñanza en temas relacionados con las habilidades para la vida desde la promoción para la salud, su concepción pedagógica, reflexiones y puntos de vista. Objetivo: analizar críticamente la evolución teórica y metodológica del desarrollo de las habilidades para la vida en estudiantes de la enseñanza media desde la promoción de salud. Métodos: se realizó una revisión bibliográfica crítica de tesis doctorales, maestrías, publicaciones de artículos originales y de revisión, publicados en la última década (2010-2020), en revistas nacionales e internacionales indexadas y en bases de datos reconocidas SciELO y Google Académico. Las principales palabras claves utilizadas fueron: habilidades para la vida, promoción de salud, estudiantes y educación médica. Desarrollo: posterior a la revisión bibliográfica realizada se analizó críticamente la evolución teórica y metodológica del desarrollo de las habilidades para la vida en estudiantes de la enseñanza media desde la promoción de salud, lo que permitió determinar vacíos existentes en la teoría, respecto a la temática motivo de estudio. Conclusiones: se determinó que existen insuficiencias en la problemática estudiada y se proponen nuevas consideraciones para su consecución.


ABSTRACT Introduction: the Cuban government dedicates efforts and resources to the improvement of the teacher's work and the training of students at different levels of education on issues related to life skills from health promotion, its pedagogical conception, reflections and points of view. Objective: to critically analyze the theoretical and methodological evolution of the development of life skills in high school students from health promotion. Methods: a critical bibliographic review of doctoral, master's degrees theses, publications of original and review articles published in the last decade (2010-2020), in indexed national and international journals and in recognized databases as SciELO and Google Scholar was carried out. The main keywords used were: life skills, health promotion, students and medical education. Development: after reviewing bibliography, the theoretical and methodological evolution of the development of life skills in high school students from health promotion was critically analyzed, this allowed determining existing gaps in the theory, regarding the subject reason for study. Conclusions: it was determined that there are shortcomings in the problem studied and new considerations are proposed for its achievement.


Assuntos
Estudantes de Odontologia , Educação Médica , Avaliação Educacional , Aprendizagem
4.
Genes (Basel) ; 7(12)2016 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-27983607

RESUMO

Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction defined as irregular menses and elevated gonadotrophin levels before or at the age of 40 years. The etiology of POI is unknown but several genes have been reported as being of significance. The fragile X mental retardation 1 gene (FMR1) is one of the most important genes associated with POI. The FMR1 gene contains a highly polymorphic CGG repeat in the 5' untranslated region of exon 1. Four allelic forms have been defined with respect to CGG repeat length and instability during transmission. Normal (5-44 CGG) alleles are usually transmitted from parent to offspring in a stable manner. The full mutation form consists of over 200 repeats, which induces hypermethylation of the FMR1 gene promoter and the subsequent silencing of the gene, associated with Fragile X Syndrome (FXS). Finally, FMR1 intermediate (45-54 CGG) and premutation (55-200 CGG) alleles have been principally associated with two phenotypes, fragile X tremor ataxia syndrome (FXTAS) and fragile X primary ovarian insufficiency (FXPOI).

5.
Artigo em Inglês | MEDLINE | ID: mdl-24755253

RESUMO

Angiotensin II receptor blockers (ARBs) are a new class of drugs for the treatment of hypertension. In this study, we studied the potential genotoxic effects of five ARBs in vivo and in vitro in human peripheral blood lymphocytes (PBLs) by means of the cytokinesis-block micronucleous (CBMN) assay in combination with fluorescence in situ hybridization (FISH) with a centromeric probe. The nuclear division index (NDI) was used as a measure of cytotoxicity. We also analyzed the association between sex, age, duration of treatment and MN formation. The in vivo study was carried out in 55 hypertensive patients. The in vitro study was performed in 10 control individuals by adding the drugs to the culture medium at a final concentration similar to the levels found in plasma in patients. Our results showed a significant increase in the frequencies of MN and binucleated cells with MN (BNMN) in vivo and especially in vitro. We observed variability in the mean frequency of MN and BNMN among the five drugs analyzed. In vivo, patients treated with Candesartan, Telmisartan and Valsartan showed a statistical significant increase in these parameters, while Olmesartan showed the highest effect in vitro. We also found that the drugs inhibit the NDI in vitro and that Eprosartan, Olmesartan and Telmisartan are the ARBs studied with the highest effect in decreasing the proliferation of the cells. FISH analysis revealed no significant difference between patients and controls in the frequency of centromeric signals. A slight variability, without statistical significance, in the frequency of micronuclei with a centromere signal (CN(+)MN) was found among the different ARBs analyzed, ruling out an aneugenic potential. When accounting for risk factors, we found that in patients there is a positive correlation between MN, BNMN and sex and a negative correlation with duration of treatment.


Assuntos
Antagonistas de Receptores de Angiotensina/efeitos adversos , Proliferação de Células/efeitos dos fármacos , Dano ao DNA , Leucócitos Mononucleares/metabolismo , Micronúcleos com Defeito Cromossômico/induzido quimicamente , Idoso , Antagonistas de Receptores de Angiotensina/farmacologia , Células Cultivadas , Centrômero/metabolismo , Centrômero/patologia , Feminino , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/metabolismo , Hibridização in Situ Fluorescente , Leucócitos Mononucleares/patologia , Masculino , Pessoa de Meia-Idade
6.
Gene ; 521(1): 145-9, 2013 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-23537988

RESUMO

Premature ovarian failure (POF) is defined as cessation of menses before the age of 40. The most significant single gene associated with POF is the Fragile X Mental Retardation 1 gene (FMR1). In the present work we screened women with fertility problems from the Basque Country in order to determine, whether in these women, FMR1 CGG repeat size in the intermediate and premutation range was associated with their pathology, and whether intermediate and premutation carriers had endocrine signs of diminished ovarian function, using the most established measure of ovarian reserve, the gonadotropin FSH. A patient sample of 41 women with ovarian insufficiency and a control sample of 32 women with no fertility problems from the Basque Country were examined. The patient sample was classified into three categories according to the results of the retrospective assessment of their ovarian function. In group 2 of patients, women with irregular cycles, reduced fecundity and FSH levels ≥ 10IU/l, there is a significant increase in the number of intermediate and premutation FMR1 alleles (35-54 CGG repeats). In group 3 of patients, women with amenorrhea for at least four consecutive months and FSH levels ≥ 10IU/l, a significant increase in the number of intermediate FMR1 alleles (35-54 CGG repeats) was found in patients compared with controls. In this group all the patients had a serum concentration > 40 IU/l. The results suggest that in the analysed Basque sample the FMR1 gene has a role in the aetiology of POF. However, elevated FSH levels are more related to the menstrual cycle pattern than to the CGG repeat size.


Assuntos
Hormônio Foliculoestimulante/sangue , Proteína do X Frágil da Deficiência Intelectual/genética , Ovário/fisiologia , Insuficiência Ovariana Primária/genética , Adulto , Amenorreia/genética , Estudos de Casos e Controles , Feminino , Humanos , Ovário/fisiopatologia , Insuficiência Ovariana Primária/fisiopatologia , Estudos Retrospectivos , Espanha , Expansão das Repetições de Trinucleotídeos
7.
Rev Port Cardiol ; 32(2): 111-5, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23333008

RESUMO

INTRODUCTION AND OBJECTIVES: We studied genotypic and allelic frequencies of polymorphisms that can affect platelet function, namely the Kozak, VNTR and HPA-2 polymorphisms of glycoprotein Ibα, the Pl(A) polymorphism of glycoprotein IIIa and the C807T polymorphism of glycoprotein Ia, in a Portuguese population composed of 227 donors. METHODS: PCR-RFLP was used to assess the Kozak, HPA-2, Pl(A) and C807T polymorphisms. The VNTR polymorphism was discriminated by different weight bands on electrophoresis. RESULTS: All genotypic frequencies were in Hardy-Weinberg equilibrium and do not differ from other Caucasian populations. Genotypic frequencies were 68.3%, 26.9% and 4.8% for Pl(A1/A1), Pl(A1/A2) and Pl(A2/A2) genotypes of the Pl(A) polymorphism, 79.3%, 20.3% and 0.4% for TT, TC and CC genotypes of the Kozak polymorphism, 81.1%, 18.9% and 0.0% for aa, ab and bb genotypes of the HPA-2 polymorphism, 15.4%, 0.9%, 70.5%, 11.5%, 1.3% and 0.4% for BC, BD, CC, CD, DD and CE genotypes of the VNTR polymorphism, and 39.7%, 50.2% and 10.1% for CC, CT and TT genotypes of the C807T polymorphism. CONCLUSIONS: The Portuguese population has now been characterized in terms of major platelet glycoprotein polymorphisms, which will be an important tool for further studies to assess the role of platelet glycoproteins in individual predisposition to prothrombotic conditions and response to antithrombotic therapy.


Assuntos
Alelos , Glicoproteínas da Membrana de Plaquetas/genética , Polimorfismo Genético , Adolescente , Adulto , Idoso , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Portugal , Adulto Jovem
8.
Ann Hum Genet ; 76(2): 110-20, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22211843

RESUMO

Fragile X Syndrome (FXS, MIM 309550) is mainly due to the expansion of a CGG trinucleotide repeat sequence, found in the 5' untranslated region of the FMR1 gene. Some studies suggest that stable markers, such as single nucleotide polymorphisms (SNPs) and the study of populations with genetic identity, could provide a distinct advance to investigate the origin of CGG repeat instability. In this study, seven SNPs (WEX28 rs17312728:G>T, WEX70 rs45631657:C>T, WEX1 rs10521868:A>C, ATL1 rs4949:A>G, FMRb rs25707:A>G, WEX17 rs12010481:C>T and WEX10 ss71651741:C>T) have been analyzed in two Basque valleys (Markina and Arratia). We examined the association between these SNPs and the CGG repeat size, the AGG interruption pattern and two microsatellite markers (FRAXAC1 and DXS548). The results suggest that in both valleys WEX28-T, WEX70-C, WEX1-C, ATL1-G, and WEX10-C are preferably associated with cis-acting sequences directly influencing instability. But comparison of the two valleys reveals also important differences with respect to: (1) frequency and structure of "susceptible" alleles and (2) association between "susceptible" alleles and STR and SNP haplotypes. These results may indicate that, in Arratia, SNP status does not identify a pool of susceptible alleles, as it does in Markina. In Arratia valley, the SNP haplotype association reveals also a potential new "protective" factor.


Assuntos
Proteína do X Frágil da Deficiência Intelectual/genética , Polimorfismo de Nucleotídeo Único , Repetições de Trinucleotídeos , Síndrome do Cromossomo X Frágil/genética , Frequência do Gene , Instabilidade Genômica , Humanos , Masculino , Espanha
9.
Mutat Res ; 695(1-2): 46-54, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19932191

RESUMO

The antihypertensive drug atenolol was found to induce chromosome loss, detected as micronuclei in the peripheral lymphocytes of treated patients. The fundamental question which chromosomes the micronuclei were derived from remains to be answered. Analysis of structural chromosomal aberrations (CAs) and expression of fragile sites (FS) were pursued in this study. They revealed a significantly higher incidence of chromosomal aberrations (chromatid and chromosome breaks) in patients compared with controls, where 10 FS emerged as specific. Also, the band 17q12-21, where known fragile sites have not been reported, was only expressed in atenolol-treated patients. Fluorescence in situ hybridization using chromosome-specific probes revealed the preferential involvement of chromosomes 7, 11, 17 and X in the micronuclei (MN) of patients. The results also suggest a correlation between chromosomal fragility and content of MN, and support the findings for a linkage between hypertension and a locus on chromosome 17.


Assuntos
Anti-Hipertensivos/toxicidade , Atenolol/toxicidade , Fragilidade Cromossômica/efeitos dos fármacos , Dano ao DNA , Hipertensão/tratamento farmacológico , Linfócitos/efeitos dos fármacos , Micronúcleos com Defeito Cromossômico/efeitos dos fármacos , Adulto , Idoso , Estudos de Casos e Controles , Sítios Frágeis do Cromossomo , Cromossomos Humanos Par 17/genética , Dano ao DNA/efeitos dos fármacos , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Testes para Micronúcleos , Pessoa de Meia-Idade
10.
Am J Med Genet A ; 128A(3): 250-5, 2004 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-15216545

RESUMO

The expansion of a trinucleotide repeat [CGG]n located in the FMR1 X-linked gene is the main cause of fragile X syndrome, the most common form of inherited mental retardation. We have analyzed the factors known, to date, to influence the instability of the repeat in 158 normal X chromosomes from the Spanish Basque population. These factors included length of the repeat, AGG interspersion pattern, length of uninterrupted CGG and DXS548-FRAXAC1 markers associated haplotype. Previous investigations on Basques showed an absence of this disorder among mentally retarded individuals that was likely due to a low prevalence of large CGG alleles and the presence of AGG interruptions on them. The present report suggests that, although the frequency of large alleles is low and they do maintain AGG interruptions, different mutational pathways that might lead to fragile X syndrome could be occurring among Basques. These pathways mainly include alleles with internal sequences 9 + 9 + n and 9 + 12 + 9 that show fragile X associated haplotypes. Besides, the lack of the most proximal AGG interruption, proposed recently as a novel factor involved in CGG repeat instability, was highly identified among alleles with long pure CGG tracts, which showed an internal sequence n + 9. The data suggest that, despite the lower incidence of large alleles, the prevalence of potentially unstable alleles among Basques is similar to that of other Caucasian populations and that these alleles could become fragile X chromosomes.


Assuntos
Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/etnologia , Frequência do Gene/genética , Marcadores Genéticos/genética , Testes Genéticos , Genética Populacional , Haplótipos/genética , Humanos , Masculino , Polimorfismo Genético , Expansão das Repetições de Trinucleotídeos/genética , População Branca/genética
11.
Am J Hum Genet ; 73(5): 994-1015, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14513410

RESUMO

Although Africa has played a central role in human evolutionary history, certain studies have suggested that not all contemporary human genetic diversity is of recent African origin. We investigated 35 simple polymorphic sites and one T(n) microsatellite in an 8-kb segment of the dystrophin gene. We found 86 haplotypes in 1,343 chromosomes from around the world. Although a classical out-of-Africa topology was observed in trees based on the variant frequencies, the tree of haplotype sequences reveals three lineages accounting for present-day diversity. The proportion of new recombinants and the diversity of the T(n) microsatellite were used to estimate the age of haplotype lineages and the time of colonization events. The lineage that underwent the great expansion originated in Africa prior to the Upper Paleolithic (27,000-56,000 years ago). A second group, of structurally distinct haplotypes that occupy a central position on the tree, has never left Africa. The third lineage is represented by the haplotype that lies closest to the root, is virtually absent in Africa, and appears older than the recent out-of-Africa expansion. We propose that this lineage could have left Africa before the expansion (as early as 160,000 years ago) and admixed, outside of Africa, with the expanding lineage. Contemporary human diversity, although dominated by the recently expanded African lineage, thus represents a mosaic of different contributions.


Assuntos
Distrofina/genética , Evolução Molecular , Variação Genética/genética , Haplótipos/genética , Mosaicismo/genética , África/etnologia , Alelos , Sequência de Bases , Cromossomos Humanos/genética , Geografia , Humanos , Repetições de Microssatélites/genética , Dados de Sequência Molecular , Filogenia , Polimorfismo Genético/genética , Recombinação Genética/genética
12.
Hum Biol ; 75(2): 265-91, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12943163

RESUMO

The present study involves the evaluation of digital dermatoglyphic traits of 2185 unrelated individuals (1152 females and 1033 males) from 17 natural valleys of the four Basque provinces (Vizcaya, Guipúzcoa, Navarra, and Alava) in the Spanish Basque Country. Univariate intervalley and between-sex comparisons were carried out by means of chi-square contingency analysis for pattern types and by means of one-way analysis of variance for ridge counts. Multivariate intervalley comparison was carried out by means of correspondence analysis for pattern types and by principal component analysis for ridge counts. The results of this study are notable for the following findings: (1) in general, all variables are significantly heterogeneous among valley populations; (2) there was a greater differentiation among the valley populations than between sexes in one valley population; (3) affinities among the intervalley populations depend on the variables considered; (4) the valley populations from Vizcaya resemble those from the Pyrenees; (5) based on interprovince comparisons, the Vizcaya and Navarra samples are the closest: (6) in general, the valley samples from Alava are the worst clustered; (7) the universality of dermatoglyphic component structure fits better in males.


Assuntos
Dermatoglifia , Etnicidade , Análise de Variância , Distribuição de Qui-Quadrado , Feminino , Humanos , Masculino , Espanha
13.
J Neurobiol ; 56(4): 338-46, 2003 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-12918018

RESUMO

Progesterone receptor (PR) plays an important role during sexual differentiation of the rat brain. The objective of the present study was to determine PR protein and gene expression pattern in preoptic-anterior hypothalamic area (POA-AHA) and hypothalamus (HYP), after estradiol or testosterone treatment during the postnatal critical period of sexual differentiation of the rat brain (defeminized animals). Three-day-old female rats were subcutaneously (s.c.) injected with a single dose of 17beta-estradiol (200 microg), or testosterone enanthate (200 microg), or vehicle (corn oil). POA-AHA and HYP were dissected 3 h, 24 h, and 14 days, as well as on the day of vaginal opening (VO) after treatments. Other animals, previously treated as above, were acutely injected with 17beta-estradiol (5 microg) on the day of VO; POA-AHA and HYP were obtained 3 h later. Total RNA was extracted and processed for semiquantitative RT-PCR and tissue slices were prepared for protein detection by immunohistochemistry. We observed that PR mRNA expression was increased in POA-AHA and HYP of the animals treated with estradiol or testosterone 3 hours after treatments, compared with the vehicle-treated control group. We also found a significant increase in PR mRNA and protein expression in POA-AHA and HYP on the day of VO in both estradiol and testosterone defeminized rats. Interestingly, the acute administration of estradiol on the day of VO (VO + E(2)) did not increase PR mRNA or protein expression in POA-AHA and HYP of either estradiol or testosterone defeminized animals, as opposed to the marked induction observed in the intact animals of the control group. The overall results suggest that estradiol and testosterone treatment during the postnatal critical period of sexual differentiation of the brain modifies the regulation of the PR mRNA and protein expression during early onset of maturity.


Assuntos
Hipotálamo/metabolismo , Área Pré-Óptica/metabolismo , Receptores de Progesterona/biossíntese , Maturidade Sexual/fisiologia , Testosterona/análogos & derivados , Animais , Animais Recém-Nascidos , Estradiol/farmacologia , Feminino , Regulação da Expressão Gênica/efeitos dos fármacos , Regulação da Expressão Gênica/fisiologia , Hipotálamo/efeitos dos fármacos , Área Pré-Óptica/efeitos dos fármacos , RNA Mensageiro/biossíntese , RNA Mensageiro/genética , Ratos , Ratos Wistar , Receptores de Progesterona/genética , Caracteres Sexuais , Maturidade Sexual/efeitos dos fármacos , Testosterona/farmacologia
14.
Behav Genet ; 32(6): 397-412, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12467338

RESUMO

Numerous studies have shown there is consistent evidence implicating genetic factors in the etiology of autism. In some cases chromosomal abnormalities have been identified. One type of these abnormalities is gaps and breaks nonrandomly located in chromosomes, denominated fragile sites (FS). We cytogenetically analyzed a group of autistic individuals and a normal population, and we examined the FS found in both samples with the aim of (1) comparing their FS expression, (2) ascertaining whether any FS could be associated with our autistic sample, and (3) examining if there are differences between individual and pooled-data analyses. Different statistical methods were used to analyse the FS of pooled and individual data. Our results show that there are statistically significant differences in the spontaneous expression of breakages between patients and controls, with a minimal sex difference. Using the method for pooled data, eight autosomal FS have preferential expression in patients and five patients were found to be positive at FS Xq27.3. With the method per-individual analysis, four FS emerged as specific in our autistic sample. Inferences of FS from pooled data were different from those of individual data. The findings suggest that although analysis of pooled data is necessitated by the problem of sparse data, analysis of single individuals is essential to know the significance of FS in autism.


Assuntos
Transtorno Autístico/genética , Fragilidade Cromossômica/genética , Adulto , Transtorno Autístico/psicologia , Bandeamento Cromossômico , Quebra Cromossômica/genética , Sítios Frágeis do Cromossomo , Mapeamento Cromossômico , Feminino , Síndrome do Cromossomo X Frágil/genética , Expressão Gênica/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Aberrações dos Cromossomos Sexuais
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