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1.
World J Urol ; 38(10): 2367-2376, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31701210

RESUMEN

INTRODUCTION AND OBJECTIVES: The possibility of performing remote-surgery has been the goal to achieve, since the early development of the first surgical robotic platforms. This systematic review aims to analyse the state of the art in the field and to provide an overview of the possible growth of this technology. METHODS: All English language publications on Telementoring and Telesurgery for minimally invasive urologic procedures were evaluated. We followed the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analyses) statement to evaluate PubMed®, Scopus®, and Web of Science™ databases (up to June 2019). RESULTS: Our electronic search identified a total of 124 papers in PubMed, Scopus, and Web of Science. Of these, 81 publications were identified for detailed review, which yielded 22 included in the present systematic review. Our results showed that remote surgery has been under-utilised until today, mostly due to the lack of appropriate telecommunication technologies. CONCLUSION: Remote live surgery is a growing technology that is catalyzing incremental interest. Despite not being yet reliable today on a regular basis in its most advanced applications, thanks to the advent of novel data-transmission technologies, telepresence might become a critical educational methodology, highly impacting the global healthcare system.


Asunto(s)
Procedimientos Quirúrgicos Robotizados , Procedimientos Quirúrgicos Urológicos/métodos , Humanos
2.
Biomed Res Int ; 2017: 7207983, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28845434

RESUMEN

Breast cancer is the most frequent type of nonskin malignancy among women worldwide. In general, conventional cancer treatment options (i.e., surgery, radiotherapy, chemotherapy, biological therapy, and hormone therapy) are not completely effective. Recurrence and other pathologic situations are still an issue in breast cancer patients due to side effects, toxicity of drugs in normal cells, and aggressive behaviour of the tumours. From this point of view, breast cancer therapy and adjuvant methods represent a promising and challenging field for researchers. In the last few years, the use of some types of complementary medicines by women with a history of breast cancer has significantly increased such as phytotherapeutic products and nutritional supplements. Despite this, the use of such approaches in oncologic processes may be problematic and patient's health risks can arise such as interference with the efficacy of standard cancer treatment. The present review gives an overview of the most usual phytotherapeutic products and nutritional supplements with application in breast cancer patients as adjuvant approach. Regardless of the contradictory results of scientific evidence, we demonstrated the need to perform additional investigation, mainly well-designed clinical trials in order to establish correlations and allow for further validated outcomes concerning the efficacy, safety, and clinical evidence-based recommendation of these products.


Asunto(s)
Neoplasias de la Mama/terapia , Suplementos Dietéticos , Fitoterapia , Extractos Vegetales/uso terapéutico , Quimioterapia Adyuvante , Cimicifuga , Femenino , Humanos , Panax , , Vitaminas/uso terapéutico
3.
Clin Oral Investig ; 20(8): 2105-2111, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26750134

RESUMEN

OBJECTIVES: The purpose was to administer the NEO-FFI personality test to patients who did and did not want to have their teeth bleached and before and after bleaching to the participants who accepted the treatment. The research question is to correlate styles and personality factors with bleaching. MATERIALS AND METHODS: There were 128 patients eligible for bleaching; 58 accepted (AB) while 70 refused (RB). The test was administered to both groups (AB-RB). The group AB was administered before and 1 week after the end of the bleaching. For each personality domain comparison, the Mann-Whitney test was used. For the group AB, the results for each domain before and after bleaching were compared using the Wilcoxon test. RESULTS: There was a significant difference between the groups (AB-RB) in the extraversion factor (p = 0.01). There was no significant difference between any of the personality items before and after bleaching (p > 0.1). The comparison between groups by sex revealed significant differences in extraversion and neuroticism factors. Males who AB scored higher in extraversion than males who RB (p < 0.05). Females scored higher in neuroticism than males who AB (p < 0.05). CONCLUSIONS: There were personality differences between people who decided to bleach compared with those who did not want the bleaching, which was mainly in the extroversion factor. This stereotypes the patients, who could be described as more sociable, extroverted, and concerned about esthetics and cleanliness. The bleaching protocol, however, cannot modify any of the personality factors. CLINICAL SIGNIFICANCE: It is important to understand a patient's behavior to meet their needs and to determine the type of patients who would like to have their teeth bleached.


Asunto(s)
Conducta de Elección , Personalidad , Blanqueamiento de Dientes/psicología , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Inventario de Personalidad
4.
J Appl Microbiol ; 120(3): 724-39, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26671760

RESUMEN

AIMS: To search for culturable Burkholderia species associated with annual ryegrass in soils from natural pastures in Portugal, with plant growth-promoting effects. METHODS AND RESULTS: Annual ryegrass seedlings were used to trap Burkholderia from two different soils in laboratory conditions. A combined approach using genomic fingerprinting and sequencing of 16S rRNA and recA genes resulted in the identification of Burkholderia strains belonging to the species Burkholderia graminis, Burkholderia fungorum and the Burkholderia cepacia complex. Most strains were able to solubilize mineral phosphate and to synthesize indole acetic acid; some of them could produce siderophores and antagonize the phytopathogenic oomycete, Phytophthora cinnamomi. A strain (G2Bd5) of B. graminis was selected for gnotobiotic plant inoculation experiments. The main effects were the stimulation of root growth and enhancement of leaf lipid synthesis and turnover. Fluorescence in situ hybridization and confocal laser microscopy evidenced that strain G2Bd5 is a rhizospheric and endophytic colonizer of annual ryegrass. CONCLUSIONS: This work revealed that annual ryegrass can naturally associate with members of the genus Burkholderia. A novel plant growth promoting strain of B. graminis was obtained. SIGNIFICANCE AND IMPACT OF THE STUDY: The novel strain belongs to the plant-associated Burkholderia cluster and is a promising candidate for exploitation as plant inoculant in field conditions.


Asunto(s)
Burkholderia/aislamiento & purificación , Lolium/microbiología , Microbiología del Suelo , Burkholderia/clasificación , Burkholderia/genética , Burkholderia/metabolismo , Ácidos Indolacéticos/metabolismo , Lolium/crecimiento & desarrollo , Datos de Secuencia Molecular , Fosfatos/metabolismo , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/microbiología , Portugal , ARN Ribosómico 16S/genética , Suelo/química
5.
Sci Rep ; 4: 4545, 2014 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-24686330

RESUMEN

Recent evidence suggests that some seizures are preceded by preictal changes that start from minutes to hours before an ictal event. Nevertheless an adequate statistical evaluation in a large database of continuous multiday recordings is still missing. Here, we investigated the existence of preictal changes in long-term intracranial recordings from 53 patients with intractable partial epilepsy (in total 531 days and 558 clinical seizures). We describe a measure of brain excitability based on the slow modulation of high-frequency gamma activities (40-140 Hz) in ensembles of intracranial contacts. In prospective tests, we found that this index identified preictal changes at levels above chance in 13.2% of the patients (7/53), suggesting that results may be significant for the whole group (p < 0.05). These results provide a demonstration that preictal states can be detected prospectively from EEG data. They advance understanding of the network dynamics leading to seizure and may help develop novel seizure prediction algorithms.


Asunto(s)
Electroencefalografía , Epilepsias Parciales/diagnóstico , Adolescente , Adulto , Ondas Encefálicas , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
6.
Indian J Dent Res ; 23(5): 585-90, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23422601

RESUMEN

OBJECTIVE: The purpose of the present study was to assess the knowledge regarding emergency management of tooth avulsion among elementary schoolteachers in the city of Jaboatão dos Guararapes, Pernambuco, Brazil. MATERIALS AND METHODS: A total of 338 teachers answered a questionnaire with items on emergency procedures following tooth avulsion. RESULTS: The majority of teachers (89.1%) had received no previous orientation regarding management of dental trauma and 81.4% had not witnessed an accident in which tooth avulsion had occurred. If an avulsed tooth had fallen to the ground, 84.3% of the teachers said they would pick it up, and 67.8% of them stated that they would clean it with water or some other liquid. A total of 33.1% said that they would take the student with the tooth in hand to a dental office. Of the respondents 88.5% would seek professional help immediately; 85.2% stated they would be unable to reimplant the avulsed tooth; and 39.3% would store the tooth in water. CONCLUSIONS: A lack of technical information was observed among teachers regarding management of tooth avulsion. Educational campaigns at schools are necessary to modify the behavior of the teachers with regard to management of tooth avulsion. Further studies should be carried out for the assessment of teachers who have participated in educational campaigns to make the treatment of dental trauma a matter of public interest.


Asunto(s)
Tratamiento de Urgencia , Docentes , Conocimientos, Actitudes y Práctica en Salud , Avulsión de Diente/terapia , Accidentes , Adolescente , Adulto , Actitud Frente a la Salud , Brasil , Niño , Preescolar , Atención Odontológica , Femenino , Educación en Salud Dental , Humanos , Masculino , Soluciones Preservantes de Órganos/uso terapéutico , Encuestas y Cuestionarios , Reimplante Dental , Agua
7.
J Neurosci Methods ; 200(2): 257-71, 2011 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-21763347

RESUMEN

A Matlab®-based software package, EPILAB, was developed for supporting researchers in performing studies on the prediction of epileptic seizures. It provides an intuitive and convenient graphical user interface. Fundamental concepts that are crucial for epileptic seizure prediction studies were implemented. This includes, for example, the development and statistical validation of prediction methodologies in long-term continuous recordings. Seizure prediction is usually based on electroencephalography (EEG) and electrocardiography (ECG) signals. EPILAB is able to process both EEG and ECG data stored in different formats. More than 35 time and frequency domain measures (features) can be extracted based on univariate and multivariate data analysis. These features can be post-processed and used for prediction purposes. The predictions may be conducted based on optimized thresholds or by applying classifications methods such as artificial neural networks, cellular neuronal networks, and support vector machines. EPILAB proved to be an efficient tool for seizure prediction, and aims to be a way to communicate, evaluate, and compare results and data among the seizure prediction community.


Asunto(s)
Epilepsia/diagnóstico , Procesamiento de Señales Asistido por Computador , Programas Informáticos , Máquina de Vectores de Soporte , Electrocardiografía , Electroencefalografía/métodos , Humanos , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad , Factores de Tiempo
8.
Artículo en Inglés | MEDLINE | ID: mdl-21097174

RESUMEN

The daily life of epilepsy patients is constrained by the possibility of occurrence of seizures. Until now, seizures cannot be predicted with sufficient sensitivity and specificity. Most of the seizure prediction studies have been focused on a small number of patients, and frequently assuming unrealistic hypothesis. This paper adopts the view that for an appropriate development of reliable predictors one should consider long-term recordings and several features and algorithms integrated in one software tool. A computational environment, based on Matlab (®), is presented, aiming to be an innovative tool for seizure prediction. It results from the need of a powerful and flexible tool for long-term EEG/ECG analysis by multiple features and algorithms. After being extracted, features can be subjected to several reduction and selection methods, and then used for prediction. The predictions can be conducted based on optimized thresholds or by applying computational intelligence methods. One important aspect is the integrated evaluation of the seizure prediction characteristic of the developed predictors.


Asunto(s)
Algoritmos , Convulsiones/diagnóstico , Electrocardiografía , Electroencefalografía , Humanos
9.
Environ Pollut ; 144(3): 736-45, 2006 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16647172

RESUMEN

Metal contaminants in garden and allotment soils could possibly affect human health through a variety of pathways. This study focused on the potential pathway of consumption of vegetables grown on contaminated soil. Five cultivars each of six common vegetables were grown in a control and in a soil spiked with Cd, Cu, Pb and Zn. Highly significant differences in metal content were evident between cultivars of a number of vegetables for several of the contaminants. Carrot and pea cultivars exhibited significant differences in accumulated concentrations of Cd and Cu with carrot cultivars also exhibiting significant differences in Zn. Distinctive differences were also identified when comparing one vegetable to another, legumes (Leguminosae) tending to be low accumulators, root vegetables (Umbelliferae and Liliaceae) tending to be moderate accumulators and leafy vegetables (Compositae and Chenopodiaceae) being high accumulators.


Asunto(s)
Contaminación Ambiental/efectos adversos , Contaminación de Alimentos , Metales Pesados/metabolismo , Verduras/metabolismo , Apiaceae/química , Apiaceae/metabolismo , Asteraceae/química , Asteraceae/metabolismo , Biodegradación Ambiental , Chenopodiaceae/química , Chenopodiaceae/metabolismo , Daucus carota/química , Daucus carota/metabolismo , Fabaceae/química , Fabaceae/metabolismo , Liliaceae/química , Liliaceae/metabolismo , Metales Pesados/análisis , Pruebas de Toxicidad , Verduras/química , Verduras/clasificación
10.
Mol Psychiatry ; 10(4): 366-74, 328, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15545978

RESUMEN

Schizophrenia is a common, multigenic psychiatric disorder. Linkage studies, including a recent meta-analysis of genome scans, have repeatedly implicated chromosome 8p12-p23.1 in schizophrenia susceptibility. More recently, significant association with a candidate gene on 8p12, neuregulin 1 (NRG1), has been reported in several European and Chinese samples. We investigated NRG1 for association in schizophrenia patients of Portuguese descent to determine whether this gene is a risk factor in this population. We tested NRG1 markers and haplotypes for association in 111 parent-proband trios, 321 unrelated cases, and 242 control individuals. Associations were found with a haplotype that overlaps the risk haplotype originally reported in the Icelandic population ("Hap(ICE)"), and two haplotypes located in the 3' end of NRG1 (all P<0.05). However, association was not detected with Hap(ICE) itself. Comparison of NRG1 transcript expression in peripheral leukocytes from schizophrenia patients and unaffected siblings identified 3.8-fold higher levels of the SMDF variant in patients (P=0.039). Significant positive correlations (P<0.001) were found between SMDF and HRG-beta 2 expression and between HRG-gamma and ndf43 expression, suggesting common transcriptional regulation of NRG1 variants. In summary, our results suggest that haplotypes across NRG1 and multiple NRG1 variants are involved in schizophrenia.


Asunto(s)
Cromosomas Humanos Par 8/genética , Proteínas del Tejido Nervioso/genética , Neurregulina-1/genética , Esquizofrenia/etnología , Esquizofrenia/genética , Mapeo Cromosómico , Familia , Femenino , Ligamiento Genético , Predisposición Genética a la Enfermedad/etnología , Genómica , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite/genética , Linaje , Polimorfismo de Nucleótido Simple , Portugal/epidemiología , Valores de Referencia , Población Blanca/genética
11.
Am J Med Genet B Neuropsychiatr Genet ; 127B(1): 30-4, 2004 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-15108176

RESUMEN

As part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans. Published 2004 Wiley-Liss, Inc.


Asunto(s)
Trastorno Bipolar/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 6/genética , Predisposición Genética a la Enfermedad/genética , Genoma Humano , Trastorno Bipolar/patología , Mapeo Cromosómico/métodos , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 2/genética , Salud de la Familia , Ligamiento Genético , Humanos , Escala de Lod , Repeticiones de Microsatélite , Portugal
12.
Am J Hum Genet ; 74(5): 886-97, 2004 May.
Artículo en Inglés | MEDLINE | ID: mdl-15060841

RESUMEN

We performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative analysis indicated the presence of significant linkage peaks in the SNP assay in chromosomal regions characterized by poor coverage and low information content on the microsatellite assays. The HMA10K provided consistently high information and enhanced coverage throughout these regions. Across the entire genome, the HMA10K had an average information content of 0.842 with 0.21-Mb intermarker spacing. In the 12-family set, the HMA10K-based analysis detected two chromosomal regions with genomewide significant linkage on chromosomes 6q22 and 11p11; both regions had failed to meet this strict threshold with the microsatellite assays. The full 25-family collection further strengthened the findings on chromosome 6q22, achieving genomewide significance with a maximum nonparametric linkage (NPL) score of 4.20 and a maximum LOD score of 3.56 at position 125.8 Mb. In addition to this highly significant finding, several other regions of suggestive linkage have also been identified in the 25-family data set, including two regions on chromosome 2 (57 Mb, NPL = 2.98; 145 Mb, NPL = 3.09), as well as regions on chromosomes 4 (91 Mb, NPL = 2.97), 16 (20 Mb, NPL = 2.89), and 20 (60 Mb, NPL = 2.99). We conclude that at least some of the linkage peaks we have identified may have been largely undetected in previous whole-genome scans for bipolar disorder because of insufficient coverage or information content, particularly on chromosomes 6q22 and 11p11.


Asunto(s)
Trastorno Bipolar/genética , Cromosomas Humanos Par 6/genética , Ligamiento Genético , Genoma Humano , Polimorfismo de Nucleótido Simple/genética , Cromosomas Humanos Par 11/genética , Familia , Femenino , Genotipo , Haplotipos , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite
13.
Mol Psychiatry ; 9(2): 213-8, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14699422

RESUMEN

Schizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31-5q35 with strong linkage (NPL=3.09, P=0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL=3.10 for significant linkage. Additional support for this locus in schizophrenia comes from higher-density mapping and mapping of 11 additional families. The combined set of 40 families had a peak NPL=3.28 (P=0.00066) at markers D5S2112-D5S820. These data and previous linkage findings from other investigators provide strong and consistent evidence for this genomic region as a susceptibility locus for schizophrenia. Exploratory analyses of a novel phenotype, psychosis, in families with schizophrenia and bipolar disorder detected evidence for linkage to the same markers as found in schizophrenia (peak NPL=3.03, P=0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases. Molecular Psychiatry (2004) 9, 213-218. doi:10.1038/sj.mp.4001418 Published online 30 December 2003


Asunto(s)
Trastorno Bipolar/genética , Cromosomas Humanos Par 5 , Genómica , Esquizofrenia/genética , Azores , Ligamiento Genético , Predisposición Genética a la Enfermedad , Humanos
14.
Mol Psychiatry ; 8(2): 156-66, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12610648

RESUMEN

Although the genetic contribution to schizophrenia is substantial, positive findings in whole-genome linkage scans have not been consistently replicated. We analyzed gene expression in various rat conditions to identify novel candidate genes for schizophrenia. Suppression subtraction hybridization (SSH), with polyA mRNA from temporal and frontal cortex of rats, was used to identify differentially expressed genes. Expression of mRNA was compared between adult Lewis and Fischer 344 (F344) rats, adult and postnatal day 6 (d6) F344, and adult F344 treated with haloperidol or control vehicle. These groups were chosen because each highlights a particular aspect of schizophrenia: differences in strain vulnerability to behavioral analogs of psychosis; factors that may relate to disease onset in relation to CNS development; and improvement of symptoms by haloperidol. The 14-3-3 gene family, as represented by 14-3-3gamma and 14-3-3zeta isoforms in the SSH study, and SNAP-25 were among the candidate genes. Genetic association between schizophrenia and the 14-3-3eta gene, positioned close to a genomic locus implicated in schizophrenia, and SNAP-25 genes was analyzed in 168 schizophrenia probands and their families. These findings address three different genes in the 14-3-3 family. We find a significant association with schizophrenia for two polymorphisms in the 14-3-3eta gene: a 7 bp variable number of tandem repeats in the 5' noncoding region (P=0.036, 1 df), and a 3' untranslated region SNP (753G/A) that is an RFLP visualized with Ava II (P=0.028). There was no significant genetic association with SNAP-25. The candidate genes identified may be of functional importance in the etiology, pathophysiology or treatment response of schizophrenia or psychotic symptoms. This is to our knowledge the first report of a significant association between the 14-3-3eta-chain gene and schizophrenia in a family-based sample, strengthening prior association reports in case-control studies and microarray gene expression studies.


Asunto(s)
Ligamiento Genético , Esquizofrenia/genética , Tirosina 3-Monooxigenasa/genética , Proteínas 14-3-3 , Animales , Modelos Animales de Enfermedad , Femenino , Lóbulo Frontal/fisiopatología , Genotipo , Proteínas de la Membrana/genética , Proteínas del Tejido Nervioso/genética , Fenotipo , Reacción en Cadena de la Polimerasa/métodos , Embarazo , Ratas , Ratas Endogámicas F344 , Ratas Endogámicas Lew , Esquizofrenia/fisiopatología , Proteína 25 Asociada a Sinaptosomas , Lóbulo Temporal/fisiopatología
15.
Mol Psychiatry ; 7(9): 1002-5, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12399954

RESUMEN

A functional polymorphism in the promoter region of the DRD2 gene has been found to be associated with schizophrenia in Japanese(1,2) and Swedish populations.(3) We attempted to replicate these findings in a genetically homogeneous Portuguese population using a family-based study design. Analysis of 78 trios revealed evidence for association between the -141 C Ins allele and schizophrenia using the haplotype relative risk (HRR) method (chi(2) = 9.30, P = 0.0023). Further examination of this sample using an alternative family-based association analysis method, the transmission disequilibrium test (TDT), of 33 informative matings from the Portuguese trios provided evidence for an allelic association and linkage disequilibrium between the insertion allele and schizophrenia (chi(2) = 8.76, P = 0.0031). These consistent results using two alternative family-based association analysis methods replicate the findings of previous reports, and thus further implicate a potential role for the dopamine-2 receptor in the genetic etiology of schizophrenia.


Asunto(s)
Desequilibrio de Ligamiento , Polimorfismo Genético , Receptores de Dopamina D2/genética , Esquizofrenia/epidemiología , Esquizofrenia/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/epidemiología , Genotipo , Humanos , Masculino , Portugal/epidemiología
16.
Am J Med Genet ; 105(8): 669-74, 2001 Dec 08.
Artículo en Inglés | MEDLINE | ID: mdl-11803513

RESUMEN

Recent studies have suggested that the alpha 7-nicotinic receptor gene (CHRNA7) may play a role in the pathogenesis of schizophrenia. The alpha 7-nicotinic receptor gene (CHRNA7) is involved in P50 auditory sensory gating deficits, and the genomic locus for this gene lies in the chromosome 15q13-14 regions. The human gene is partially duplicated (exons 5-10) with four novel upstream exons. The marker D15S1360 has been shown to be significantly linked with the phenotype of abnormal P50 suppression in schizophrenia families. The marker L76630 is 3 kb in the 3' direction from the last exon of the CHRNA7 gene and is located in the duplicated region. The function of the two L76630 copies is unknown. We genotyped three polymorphic markers D15S1360, D15S165, and L76630 that are localized in a genomic fragment containing the CHRNA7 in 31 Azorean schizophrenia families/trios (including 41 schizophrenia individuals and 97 unaffected families members). An overall analysis utilizing the family-based association test revealed significant linkage disequilibrium between L76630 and schizophrenia (P = 0.0004). Using the extended transmission disequilibrium test and limiting the analysis to one triad per family, transmission disequilibrium of D15S1360 was near significance (P = 0.078). The 15q13 region overlaps with the location of two well-known genomically imprinted disorders: Angelman syndrome and Prader-Willi syndrome. Therefore, we investigated maternal and paternal meioses. We found significant transmission disequilibrium for D15S1360 through paternal transmission (P = 0.0006) in our schizophrenia families. The L76630 marker showed a significant disequilibrium in maternal transmissions (P = 0.028). No parent-of-origin effect was found in D15S165. Overall, our results suggest that the CHRNA7 may play a role in schizophrenia in these families. A parent of origin effect may be present and requires further study.


Asunto(s)
Desequilibrio de Ligamiento , Receptores Nicotínicos/genética , Esquizofrenia/genética , Alelos , Azores , ADN/genética , Salud de la Familia , Genotipo , Humanos , Repeticiones de Microsatélite , Receptor Nicotínico de Acetilcolina alfa 7
17.
Am J Med Genet ; 96(6): 854-7, 2000 Dec 04.
Artículo en Inglés | MEDLINE | ID: mdl-11121196

RESUMEN

We have studied 24 families with multiple affected members with bipolar disorder to test the hypothesis that in those families clinically showing genetic anticipation [Macedo et al., 1999] we would find large repeat expansions. The families meeting inclusion criteria had a minimum of two affected members over two generations and showed marked anticipation both in terms of age of onset and disease severity. We used the repeat expansion detection (RED) method to test patients (n = 24) and controls from these families and unrelated controls (n = 53). We also genotyped patients and family members from two families with large expansions at the known expansion loci on chromosomes 13, 17, and 18. The RED method revealed a higher number of large expansions in patients compared with controls (t-test; P < 0.0055: Mann-Whitney U; P = 0.02). The patients with the largest expansions were typed at the specific loci on chromosomes 13, 17, and 18 and the chromosome 18 expansion locus segregated with disease in one family, and a second family showed segregation with the expansion located at the SCA8 locus on chromosome 13. Genetic anticipation had been analyzed in this cohort of families, with correction for potential ascertainment bias, possible proband effects, cohort effects, regression to the mean, gender effects, and maternal vs. paternal transmission. None of these potential confounds appeared to account for the observed anticipation. We also identified that the presence of large expansions in affected family members derives primarily from two families from the genetically isolated Azores population. One family shows segregation with the chromosome 18 locus, whereas the other family segregates with expansions at the SCA8 locus. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:854-857, 2000.


Asunto(s)
Trastorno Bipolar/genética , Expansión de Repetición de Trinucleótido/genética , Anticipación Genética , Mapeo Cromosómico , ADN/genética , Salud de la Familia , Femenino , Humanos , Masculino , Linaje , Portugal , Repeticiones de Trinucleótidos
18.
Br J Psychiatry ; 175: 154-7, 1999 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10627798

RESUMEN

BACKGROUND: The Operational Criteria Checklist (OPCRIT) generates diagnoses according to 12 operational diagnostic systems (e.g. DSM-III, DSM-III-R, Research Diagnostic Criteria, ICD-10). AIMS: To examine the agreement between diagnoses generated by the OPCRIT, as completed by the interviewer, with a best-estimate lifetime procedure using the OPCRIT. METHOD: Subjects came from large multi-generational bipolar or schizophrenia pedigrees (n = 100), and from a sample of unrelated subjects with schizophrenia (n = 40). We analysed the diagnostic agreement between OPCRIT diagnoses generated by the interviewer and our best-estimate OPCRIT diagnoses, according to DSM-III-R and ICD-10, using Cohen kappa statistics. RESULTS: Excellent agreement was found between interviewer OPCRIT diagnoses and OPCRIT diagnoses made by the best-estimate lifetime consensus procedure for DSM-III-R (kappa = 0.83) and ICD-10 (kappa = 0.81). CONCLUSIONS: Results suggest that this procedure for diagnostic assessment is an efficient alternative to classic best-estimate diagnosis procedures.


Asunto(s)
Trastorno Bipolar/diagnóstico , Esquizofrenia/diagnóstico , Algoritmos , Humanos , Variaciones Dependientes del Observador , Escalas de Valoración Psiquiátrica , Sensibilidad y Especificidad
19.
Am J Med Genet ; 81(1): 24-8, 1998 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-9514583

RESUMEN

As part of the European Multicentre Association Study of Schizophrenia (EMASS), we studied polymorphisms in the dopamine DRD2 and DRD3 receptor genes. The EMASS collaboration was established to create a large, statistically powerful sample of schizophrenic patients and controls from different European centres. Previous studies have suggested associations between schizophrenia and the Ser311Cys polymorphism in exon 7 of the dopamine DRD2 receptor gene [Arinami et al., (1994): Lancet 343:703-704] and a polymorphism Ser9gly in exon 1 of the dopamine DRD3 receptor gene [Crocq et al. (1992): J Med Genet 29:858-860]. We tested for these associations in samples of 373 and 413, and 311 and 306 patients and controls, respectively. We found no evidence for allelic association between schizophrenia and the Cys311 variant of the DRD2 receptor gene and no homozygotes for this variant were observed by any group. However, an excess of homozygotes for both alleles of the DRD3 polymorphism was observed in schizophrenic patients (chi2 = 8.54, P = 0.003, odds ratio = 1.64, 95% CI = 1.18-2.29). We also observed a significant excess of the 1-1 (Ser9Ser) genotype (chi2 = 8.13, P = 0.004, odds ratio = 1.7, 95% CI = 1.18-2.4). No evidence of heterogeneity between samples was detected and there was no evidence of an allelic association. These findings suggest that the rare Cys311 variant in exon 7 of the DRD2 receptor gene does not play a role in the pathogenesis of schizophrenia in European populations. Currently, our results do support the previous findings of an association between increased homozygosity of the Ser/Gly variant of the Dopamine D3 receptor gene and schizophrenia.


Asunto(s)
Polimorfismo Genético , Receptores de Dopamina D2/genética , Esquizofrenia/genética , Alelos , Cistina/genética , Frecuencia de los Genes , Genotipo , Glicina/genética , Humanos , Receptores de Dopamina D3 , Serina/genética
20.
Am J Med Genet ; 74(3): 286-8, 1997 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-9184312

RESUMEN

Molecular genetic studies of psychiatric disorders must face the possibility that despite the significant contribution of genetic factors to the expression of syndromes like schizophrenia, these syndromes may be a heterogeneous collection of genetic and non-genetic illnesses. These illnesses may be etiologically distinct from each other and still share many clinical features in common. Linkage studies of families with multiple affected members tend to favor the selection of genetic forms of a syndrome but can still represent a heterogeneous set of different genetic illnesses. To limit the potential genetic heterogeneity of a study sample, we selected a population that was geographically isolated and was historically relatively genetically homogeneous. We then assessed the relative level of homogeneity utilizing a surname analysis of the population of the Azores, mainland Portugal, rural USA, and urban USA. The average number of families with the same last name corrected for population size in the Azores is 30.88, in Coimbra it is 21.42, compared to 1.13 in a rural American population and 0.38 in an urban American population. The results of this analysis indicate that the Azores have the highest degree of homogeneity, and mainland Portugal has a high degree of homogeneity.


Asunto(s)
Genética de Población , Azores , Familia , Heterogeneidad Genética , Humanos , Nombres , Portugal , Trastornos Psicóticos/genética , Población Rural/estadística & datos numéricos , Teléfono/estadística & datos numéricos , Estados Unidos , Población Urbana/estadística & datos numéricos
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