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Biomedical subjects

P Larmande

Publications and source records attributed to P Larmande.

At least 19 recordsLinked to original sources

OryGenesDB: a database for rice reverse genetics.

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.

Chromosome Mapping↗

A new cacao linkage map based on codominant markers: development and integration of 201 new microsatellite markers.

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.

Cacao↗

Highly efficient production and characterization of T-DNA plants for rice ( Oryza sativa L.) functional genomics.

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.

Agrobacterium tumefaciens↗

In vivo diagnosis of Kufs' disease by extracerebral biopsies.

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.

Adult↗

[Influence of changes in climate and the calendar on the onset of a migraine crisis].

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.

Adult↗

[MRI and computer-assisted tomography in Kufs disease. Apropos of a familial form].

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.

Adult↗

[Nervous microangiopathy and POEMS syndrome].

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.

Adult↗

[Monocular circumduction nystagmus. Are the central oculomotor pathways partly monocular?].

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.

Brain Stem↗

[Visual illusions of obliquity].

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.

Adolescent↗

[Cure of oculomotor paralysis with a muscle relaxant (Baclofen)].

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.

Adult↗

[How do we read? Study of eye movement in reading].

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.

Adult↗

[Visual perseveration and palinopsia: a visual memory disorder?].

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.

Brain Neoplasms↗

[Disappearance of akinesia in Parkinson disease during a manic attack].

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.

Aged↗

[Reproducibility of the nyctohemeral cycle of blood pressure in patients with severe Parkinson disease].

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.

Adult↗

Two mesencephalic lacunar infarcts presenting as Claude's syndrome and pure motor hemiparesis.

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.

Aged↗

[Abnormal eye movements].

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.

Eye Movements↗