RESUMO
Insertional mutant databases containing Flanking Sequence Tags (FSTs) are becoming key resources for plant functional genomics. We have developed OryGenesDB (http://orygenesdb.cirad.fr/), a database dedicated to rice reverse genetics. Insertion mutants of rice genes are catalogued by Flanking Sequence Tag (FST) information that can be readily accessed by this database. Our database presently contains 44166 FSTs generated by most of the rice insertional mutagenesis projects. The OryGenesDB genome browser is based on the powerful Generic Genome Browser (GGB) developed in the framework of the Generic Model Organism Project (GMOD). The main interface of our web site displays search and analysis interfaces to look for insertions in any candidate gene of interest. Several starting points can be used to exhaustively retrieve the insertions positions and associated genomic information using blast, keywords or gene name search. The toolbox integrated in our database also includes an 'anchoring' option that allows immediate mapping and visualization of up to 50 nucleic acid sequences in the rice Genome Browser of OryGenesDB. As a first step toward plant comparative genomics, we have linked the rice and Arabidopsis whole genome using all the predicted pairs of orthologs by best BLAST mutual hit (BBMH) connectors.
Assuntos
Bases de Dados Genéticas , Genes de Plantas , Mutagênese Insercional , Oryza/genética , Mapeamento Cromossômico , Genoma de Planta , Genômica , Internet , Proteínas de Plantas/genética , Sitios de Sequências Rotuladas , Interface Usuário-ComputadorRESUMO
A linkage map of cacao based on codominant markers has been constructed by integrating 201 new simple sequence repeats (SSR) developed in this study with a number of isoenzymes, restriction fragment length polymorphisms (RFLP), microsatellite markers and resistance and defence gene analogs (Rgenes-RFLP) previously mapped in cacao. A genomic library enriched for (GA)(n) and (CA)(n) was constructed, and 201 new microsatellite loci were mapped on 135 individuals from the same mapping population used to establish the first reference maps. This progeny resulted from a cross between two heterozygous cacao clones: an Upper-Amazon Forastero (UPA 402) and a Trinitario (UF 676). The new map contains 465 markers (268 SSRs, 176 RFLPs, five isoenzymes and 16 Rgenes-RFLP) arranged in ten linkage groups corresponding to the haploid chromosome number of cacao. Its length is 782.8 cM, with an average interval distance between markers of 1.7 cM. The new microsatellite markers were distributed throughout all linkage groups of the map, but their distribution was not random. The length of the map established with only SSRs was 769.6 cM, representing 94.8% of the total map. The current level of genome coverage is approximately one microsatellite every 3 cM. This new reference map provides a set of useful markers that is transferable across different mapping populations and will allow the identification and comparison of the most important regions involved in the variation of the traits of interest and the development of marker-assisted selection strategies.
Assuntos
Cacau/genética , Mapeamento Cromossômico , Biblioteca Genômica , Repetições de Microssatélites/genética , Cruzamentos Genéticos , Primers do DNA , Polimorfismo Genético , Polimorfismo de Fragmento de RestriçãoRESUMO
We investigated the potential of an improved Agrobacterium tumefaciens-mediated transformation procedure of japonica rice ( Oryza sativa L.) for generating large numbers of T-DNA plants that are required for functional analysis of this model genome. Using a T-DNA construct bearing the hygromycin resistance ( hpt), green fluorescent protein ( gfp) and beta-glucuronidase ( gusA) genes, each individually driven by a CaMV 35S promoter, we established a highly efficient seed-embryo callus transformation procedure that results both in a high frequency (75-95%) of co-cultured calli yielding resistant cell lines and the generation of multiple (10 to more than 20) resistant cell lines per co-cultured callus. Efficiencies ranged from four to ten independent transformants per co-cultivated callus in various japonica cultivars. We further analysed the T-DNA integration patterns within a population of more than 200 transgenic plants. In the three cultivars studied, 30-40% of the T(0) plants were found to have integrated a single T-DNA copy. Analyses of segregation for hygromycin resistance in T(1) progenies showed that 30-50% of the lines harbouring multiple T-DNA insertions exhibited hpt gene silencing, whereas only 10% of lines harbouring a single T-DNA insertion was prone to silencing. Most of the lines silenced for hpt also exhibited apparent silencing of the gus and gfp genes borne by the T-DNA. The genomic regions flanking the left border of T-DNA insertion points were recovered in 477 plants and sequenced. Adapter-ligation Polymerase chain reaction analysis proved to be an efficient and reliable method to identify these sequences. By homology search, 77 T-DNA insertion sites were localized on BAC/PAC rice Nipponbare sequences. The influence of the organization of T-DNA integration on subsequent identification of T-DNA insertion sites and gene expression detection systems is discussed.
Assuntos
DNA Bacteriano/genética , Genoma de Planta , Genômica , Oryza/genética , Agrobacterium tumefaciens/fisiologia , Sequência de Bases , Caulimovirus/genética , Primers do DNA , Glucuronidase/genética , Proteínas de Fluorescência Verde , Proteínas Luminescentes/genética , Regiões Promotoras Genéticas , Transformação GenéticaRESUMO
In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs' disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement.
Assuntos
Lipofuscinoses Ceroides Neuronais/patologia , Pele/patologia , Adulto , Biópsia , Eletromiografia , Eletronistagmografia , Feminino , Humanos , Microscopia Eletrônica , Músculo Esquelético/patologia , Mioclonia/patologia , Nervos Periféricos/patologia , Reto/patologia , Nervo Sural/patologiaRESUMO
Kufs disease is the adult form of ceroid neurolipofuscinosis, and an uncommon cause of degenerative nervous system disease affecting young adults. We present here 4 cases of family form revealed by a demential syndrome. In all 4 patients MRI showed diffuse cortical atrophy predominant in the parietal regions. In 3 of these 4 patients MRI also exhibited a low signal in T2-weighted sequences on the putamens. There was no abnormality of the white matter. Diagnosis was made by cerebral biopsy in one case and by rectal biopsy in all other cases. Although the MRI images are not specific, they must be used when the diagnosis of Kufs disease is suspected in young patients with demential syndrome.
Assuntos
Imageamento por Ressonância Magnética , Lipofuscinoses Ceroides Neuronais/genética , Tomografia Computadorizada por Raios X , Adulto , Atrofia , Biópsia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Demência/diagnóstico , Demência/diagnóstico por imagem , Demência/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/diagnóstico por imagem , Lobo Parietal/diagnóstico por imagem , Lobo Parietal/patologiaRESUMO
Several factors have been demonstrated to play a role in triggering acute episode of migraine headache. On the basis of observation, others have been suggested but not confirmed. Variations in climate are among the latter. Over a one-year period, we observed a population of 304 patients with migraine residing in a precise climatic zone. The frequency of acute episodes could be analyzed for 148 among them. There were 4,421 acute episodes recorded during the year. The periodicity during the year was compared with climate parameters: temperature (maximal, minimal, average), wind (force and direction), atmospheric pressure, rain, sunshine, relative humidity, and icy, foggy and stormy weather. Moon cycles were also assessed. No correlations were found between climate parameters or variations there of and onset of migraine. Variations in climate would thus appear to have no effect on migraine. Inversely, the results of this study demonstrated a day effect with a higher number of episodes on Saturday and less on Monday and Tuesday. The triggering effect of catamenia on many acute episodes was also confirmed.
Assuntos
Clima , Transtornos de Enxaqueca/etiologia , Estações do Ano , Adulto , Feminino , França , Humanos , Masculino , Ciclo Menstrual , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco , Fatores de TempoRESUMO
Circumduction-related nystagmus is an extremely rare and complex oculomotor anomaly. A case observed in a patient with multiple sclerosis was monocular. The lack of any motor paralysis sign demonstrated that central oculomotor pathway dysfunction can affect only one eye. This would only be possible if the central oculomotor pathways were at least in part monocular.
Assuntos
Tronco Encefálico/fisiologia , Doenças do Sistema Nervoso Central/fisiopatologia , Nistagmo Patológico/fisiopatologia , Músculos Oculomotores/inervação , Vias Visuais/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Percepção Visual/fisiologiaRESUMO
The authors report the case of a 40 year-old man with POEMS syndrome (peripheral neuropathy, organomegaly, endocrinopathy, M-protein and skin changes). Pathological studies of the peroneal nerve showed a microangiopathy of the vasa nervorum. Several authors have already reported microvascular abnormalities that could be responsible for some systemic manifestations of the POEMS syndrome, involving the skin, the kidney and the peripheral nerves. This new case enhances this hypothesis. The relation between microangiopathy and plasma cell dyscrasia is unknown.
Assuntos
Síndrome POEMS/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Doenças Vasculares/etiologia , Adulto , Humanos , Masculino , MicrocirculaçãoRESUMO
Reading associates a perceptive time, a motor time and a cognitive time, all three phenomena being extremely interdependent. After a review of the physiological mechanisms of reading, the authors discuss, on the basis of experimentation in the normal subject, the results of a study involving electro-oculographic recording of reading.
Assuntos
Movimentos Oculares , Leitura , Adulto , Escolaridade , Eletroculografia , Movimentos Oculares/fisiologia , Humanos , Pessoa de Meia-Idade , Valores de Referência , Visão Ocular/fisiologiaRESUMO
Three cases of visual illusion of obliquity were observed. This rare disorder is due to impaired of panorama/vertical orientation. When present, special care must be given during visual correction to spatial orientation of the perceived image in the vertical axis.
Assuntos
Ilusões Ópticas , Transtornos da Visão/etiologia , Adolescente , Adulto , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Percepção Espacial , Transtornos da Visão/fisiopatologiaRESUMO
The authors report a case of oculomotor palsy, whose symptoms resolved after administration of a muscle relaxant: Baclofène. This action appeared to be due to suppression of a reactive spasm. It may be a useful treatment for secondary diplopia, after oculomotry palsy.
Assuntos
Baclofeno/uso terapêutico , Oftalmoplegia/tratamento farmacológico , Adulto , Feminino , Humanos , Músculos Oculomotores/fisiopatologia , Oftalmoplegia/fisiopatologia , Espasmo/tratamento farmacológicoRESUMO
UNLABELLED: Nineteen hospitalised, severe and treated parkinsonians (9 males, 10 females), stage IV and V of Hoehn and Yahr's classification, underwent 2 days running ambulatory blood pressure monitoring (ABPM) by ABPM 630 Nippon-Colin device, during a period of therapeutic stability. Hospitalisation allowed reproducibility of daily activity. Diurnal, nocturnal and 24 hours systolic blood pressure (SBP), as well as nocturnal and 24 hours diastolic blood pressure (DBP) were reproducible with a good correlation for each patient. Diurnal diastolic BP was the lone not reproducible value but had a good day 1-day 2 correlation. [table: see text] CONCLUSION: Parkinsonian ABPM data, except diurnal DBP, are reproducible.
Assuntos
Pressão Sanguínea , Ritmo Circadiano , Doença de Parkinson/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Assistência Ambulatorial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Monitorização Fisiológica , Reprodutibilidade dos TestesRESUMO
We report the case of a woman suffering from severe Parkinson disease with severe motor fluctuations. During a manic attack, her anti-Parkinson treatment was interrupted for 36 hours during which no element of akinesia and no dyskinesia reappeared. This case is suggestive of a link between manic attacks and secretion of dopamine.
Assuntos
Transtorno Bipolar/complicações , Transtornos dos Movimentos/etiologia , Doença de Parkinson/complicações , Idoso , Dopamina/metabolismo , Feminino , Humanos , Levodopa/uso terapêutico , Atividade Motora/efeitos dos fármacos , Transtornos dos Movimentos/fisiopatologia , Doença de Parkinson/tratamento farmacológicoRESUMO
Visual perseveration and palinopsia are defined as the persistence or the reappearance of the visual image. These infrequent symptoms are thought to be linked to the right hemisphere posterior areas. We report a case of this syndrome in which the initial fixation was foveal. The palinoptic image was sometimes moving. This suggests that palinopsia is due to a dysfunction of the visual memory, rather than of the visual system: this dysfunction may be related to hyperactivity of the visual buffer.
Assuntos
Neoplasias Encefálicas/complicações , Glioblastoma/complicações , Alucinações/etiologia , Transtornos da Memória/etiologia , Transtornos da Visão/etiologia , Neoplasias Encefálicas/diagnóstico por imagem , Glioblastoma/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Percepção VisualRESUMO
Two exceptional cases of mesencephalic lacunar infarcts located both in the anterior vascular territory are reported. In patient 1, the infarct selectively involved the red nucleus, thus resulting in a Claude's syndrome. In patient 2, the lesion was limited to the external 2/3 of the cerebral peduncle, and was responsible for a pure motor hemiplegia (PMH). CT scan easily demonstrated the lesion in both cases. Claude's syndrome is very unusual, and PMH has only been reported once before in a mesencephalic infarct. The reasons why these lesions are so uncommon are discussed.
Assuntos
Infarto Cerebral/complicações , Hemiplegia/etiologia , Mesencéfalo/irrigação sanguínea , Doenças do Nervo Oculomotor/etiologia , Idoso , Infarto Cerebral/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tratos Piramidais/diagnóstico por imagem , Núcleo Rubro/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
Abnormal eye movements constitute a pathological entily characterized by the inability to maintain an immobile gaze, gazing being unwillingly disturbed by displacement of the eyes. The semiology of abnormal eye movements is very accurate. It is based on clinical analysis and on eye movements recording. It is important to study abnormal eye movements, since many of them have localizing or pathological value.
Assuntos
Nistagmo Patológico/fisiopatologia , Transtornos da Motilidade Ocular/fisiopatologia , Movimentos Oculares , HumanosRESUMO
A patient presented with a right hemiparesis and a left nuclear third nerve syndrome. The CT scan showed a hematoma of the left mesencephalon, near the oculomotor nucleus. After resorption of the hematoma, the nuclear symptomatology disappeared. This is the first description of a third nerve nuclear syndrome secondary to a mesencephalic hematoma.
Assuntos
Hemorragia Cerebral/complicações , Doenças do Nervo Oculomotor/etiologia , Idoso , Hemorragia Cerebral/diagnóstico por imagem , Humanos , Masculino , Doenças do Nervo Oculomotor/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
Tachistoscopy is an experimental method used to study processes involved in hemispheric specialisation and the lateralisation of cerebral functions. The authors review the various findings emerging from this technique and briefly assess its methodological constraints.
Assuntos
Dominância Cerebral , Percepção Visual , Encéfalo/fisiologia , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Feminino , Percepção de Forma , Lateralidade Funcional , Humanos , Masculino , MétodosRESUMO
The authors study the tachistoscopic recognition of Arabic words in Arabic speakers. This study shows that Arabic words are read by Arabic speakers in the same way as French words by French speaking readers. Under such circumstances, the direction of reading appears to be less important than hemispheric specialisation.