138 research outputs found
Contiguous gene deletion within chromosome arm 10q Is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
No full textPerformance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples
No full textNext-generation sequencing (NGS) has enabled new approaches for detection of mutations in the BRCA1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC). The search for germline mutations in the BRCA1 and BRCA2 genes is of importance with respect to oncogenetic and surgical (bilateral mastectomy, ovariectomy) counselling. Testing tumor material for BRCA mutations is of increasing importance for therapeutic decision making as the poly ADP ribose polymerase (PARP) inhibitor, olaparib, is now available to treat patients with specific forms of ovarian cancer and BRCA mutations. Molecular genetics laboratories should develop reliable and sensitive techniques for the complete analysis of the BRCA1 and BRCA2 genes. This is a challenge due to the size of the coding sequence of the BRCA1/2 genes, the absence of hot spot mutations, and particularly by the lower DNA quality obtained from Formalin-Fixed Paraffin-Embedded (FFPE) tissue. As a result, a number of analyses are uninterpretable and do not always provide a result to the clinician, limiting the optimal therapeutic management of patients. The availability of Fresh Frozen Tissue (FFT) for some laboratories and the excellent quality of the DNA extracted from it offers an alternative. For this reason, we evaluated Multiplicom's BRCA MASTR Dx assay on a set of 97 FFT derived DNA samples, in combination with the MID for Illumina MiSeq for BRCA1 and BRCA2 mutation detection. We obtained interpretable NGS results for all tested samples and showed > 99,7% sensitivity, specificity and accuracy
Hirtella araguariensis Prance
No full text[280] Hirtella araguariensis Prance Fl. Neotrop. Monogr. 9: 278 [8 June 1972] (Prance 1972). HERBARIUM DATA (FG). — 10 collections at CAY. Sel. exs.: C. Delnatte 1445. INVENTORY DATA (FG). — 1 tree, dbh = 17.5 cm.Published as part of Molino, Jean-François, Sabatier, Daniel, Grenand, Pierre, Engel, Julien, Frame, Dawn, Delprete, Piero G., Fleury, Marie, Odonne, Guillaume, Davy, Damien, Lucas, Eve J. & Martin, Claire A., 2022, An annotated checklist of the tree species of French Guiana, including vernacular nomenclature, pp. 345-903 in Adansonia (3) (3) 44 (26) on page 419, DOI: 10.5252/adansonia2022v44a26, http://zenodo.org/record/745877
Étude de la tuberculose chez l'éléphant : importance en parc zoologique
No full textLes éléphants d'Afrique (Loxodonta africana, Loxodonta cyclotis) et d'Asie (Elephas maximus) sont des espèces menacées dans leur milieu naturel. Leur élevage en parc zoologique est difficile et les populations captives diminuent peu à peu. La tuberculose chez l'éléphant n'est pas rapportée chez les individus sauvages, alors que de nombreux cas ont été déclarés chez des spécimens captifs. Depuis 10 ans, des études sont menées afin de mettre au point des techniques diagnostiques fiables et des thérapies efficaces. Chez l'éléphant, l'infection est souvent inapparente et est principalement causée par Mycobacterium tuberculosis, agent de la maladie chez l'homme. L'apparition d'un cas dans une collection zoologique constitue donc un risque de zoonose grave pour les employés et les visiteurs. La gestion pratique du cas et le devenir d'un éléphant tuberculeux dépend ainsi grandement des autorités sanitaires du pays, comme l'illustre l'exemple du Safari de Peaugres (Ardèche, France) en 2004
Screening and imaging in women at high genetic risk for breast cancer. Standards and developments
No full textSinella
No full textSinella spp. Name in source. Sinella (Sinella) in Deharveng (1987c). Source: Deharveng (1986), Deharveng (1987c), Deharveng & Bedos (1988), Deharveng & Delnatte (1988), Wiwatwitaya & Takeda (2005). Distribution in Thailand. Phetchabun, Saraburi (C), Nakhon Ratchasima, Khon Kaen, Chaiyaphum (NE), Surat Thani (P). Habitat: mostly cave and cave guano; soil s.l. in dry evergreen lowland forest in Nakhon Ratchasima province (Wiwatwitaya & Takeda 2005). Remark. Generic assignations need to be confirmed after the redefinition of Sinella and Coecobrya by Deharveng (1990); the morphospecies recorded in the cited papers having not been characterized, their exact number is unknown.Published as part of Jantarit, Sopark, Bedos, Anne & Deharveng, Louis, 2016, An annotated checklist of the Collembolan fauna of Thailand, pp. 301-360 in Zootaxa 4169 (2) on page 333, DOI: 10.11646/zootaxa.4169.2.4, http://zenodo.org/record/26580
Prise en charge d'un cancer du sein chez la patiente porteuse d'une mutation délétère avérée dans les gènes BRCA1/2
No full textIsotomiella
No full textIsotomiella spp. Name in source. Isotomiella minor in Takeda (1981), Deharveng (1986) and Wiwatwitaya & Takeda (2005). Source: Takeda (1981), Deharveng (1986), Deharveng & Delnatte (1988), Leclerc & Dalger (1988), Deharveng & Bedos (1988, 1993b, 2001), Deharveng et al. (1989), Bedos & Deharveng (1994), Wiwatwitaya & Takeda (2005). Distribution in Thailand. Chiang Mai, Chiang Rai (N), Ratchaburi (W), Phetchabun (C), Khon Kaen, Nakhon Ratchasima (NE), Phang Nga, Yala (P). Habitat: cave in Chiang Rai, Phang Nga, Phetchabun and Yala; cave guano in Ratchaburi; above 2000 m. in Doi Inthanon forest; soil s.l. in mixed dry deciduous forest and deforested area at 800 m. in Khon Kaen (Takeda 1981) and in dry evergreen forest in Nakhon Ratchasima (Wiwatwitaya & Takeda 2005). Remark. The cited records probably all correspond to species of the minor group (Bedos 1994), but not to I. minor itself, which seems to be restricted to temperate regions (Bedos & Deharveng 1994). The four morphospecies listed from Doi Inthanon above 2000 m. without more details in Deharveng et al. (1989) correspond to one undescribed morphospecies and to three of the species subsequently described and listed above. The six morphospecies recognized in Bedos (1994) from Doi Inthanon correspond to the species listed above (species number 100–105). Isotomiella sp. was recognized in a cave of Chiang Rai in Deharveng & Bedos (2001).Published as part of Jantarit, Sopark, Bedos, Anne & Deharveng, Louis, 2016, An annotated checklist of the Collembolan fauna of Thailand, pp. 301-360 in Zootaxa 4169 (2) on pages 329-330, DOI: 10.11646/zootaxa.4169.2.4, http://zenodo.org/record/26580
Tree silhouette showing a 14.7-years-old individual of <i>C. sciadophylla</i>.
No full text<p><i>Cecropia</i> age estimation protocol consists in dividing the total number of nodes on the main axis by 23 for <i>C. sciadophylla</i> or 35 for <i>C. obtusa</i>. In the pictures (a), (b), and (c) leaf and stipule scars are shown at different heights in the tree. (d) Relationship between the number of nodes on the borne axes (An) and that of their bearing axis (An-1) above their point of insertion, for the same individual. The comparison of A2 in relation to A1 is represented by circles, A3 in relation to A2 by squares, A4 in relation to A3 by triangles and A5 in relation to A4 by “x” symbols. The dotted line in the panel (d) represents the 1∶1 line. The human silhouette represents a 1.8 m height scale.</p
Rudgea pungens C. M. Taylor, Bruniera & Zappi 2015
No full text7. Rudgea pungens (Steyermark) C.M. Taylor, Bruniera & Zappi (2015: 45, p. 4). – Psychotria pungens Steyermark (1972: 677). (Fig. 7 D–F). Type: — FRENCH GUIANA. Without locality, s.d., F. M. R . Leprieur 118 (holotype, P! [P00837150]; probable isotype (unnumbered collection), G! [G00418599, G00418600]). Shrub 0.3–2 m tall, with nearly horizontal branches; twigs glabrous, 1–1.5 mm thick, soon covered with a pale strawcoloured bark. Stipules 8–16(–20) × 1–7 mm, glabrous, marcescent and soon corky, consisting of a narrow tubular sheath 5–9(–12) mm long (usually split at flower-bearing nodes) bearing 8–15 terminal linear appendages 3–8 mm long, and 5–7 dorsal linear appendages 0.5-3 mm long, forming a very short decurrent keel inserted 1–3 mm above the base of the stipule. Leaves opposite; petioles 0.2–0.6 cm long, glabrous; blades elliptic, 6.5–14.5(–16) × 1.8–4.5(–5.5) cm, acute or obtuse at base, gradually long-acuminate at apex, very thick, entirely glabrous, drying olive green to olive brown; midrib concave above; secondary veins 5–10 on each side of midrib, strongly ascending, forming an angle of 45–60° with the midrib; tertiary veins invisible in fresh leaves, sometimes slightly prominent when dry; domatia absent. Inflorescences terminal, subcapitate and involucrate, ca. 8-flowered, patent to sub-erect, glabrous, sessile or pedunculate; peduncle (when present) terete, to 1 cm long; flower-bearing portion 1.3–2.2 × 1.4–3.5 cm, secondary branches apparently absent or extremely reduced in flower, to 2 mm long in fruit; bracts pale green, numerous and imbricate in several rows, 10–20 × 2–7 mm, lanceolate, entire, acute at apex, glabrous or shortly ciliate, erect or patent, persistent in fruit. Flowers sessile, 5-merous, heterostylous. Hypanthium obovoid, 1.5 mm long, glabrous, Calyx tube 0.5–1 mm long, glabrous; lobes linear to narrowly triangular, 1.2–3.5 × 0.5–1 mm, glabrous or ciliate. Corolla white, tube narrow and almost cylindrical, 13 mm long, 1 mm wide at base, 1.5–2.5 mm wide at mouth, glabrous outside (inside not seen); lobes narrowly triangular, 2.5 × 1 mm, glabrous, with short, obtuse dorsal appendage 0.5 mm long. Stamens included in long-styled flowers, or exserted with filaments exceeding corolla throat by 1 mm in short-styled flowers; anthers 2.3 × 0.3 mm. Disk shortly cylindrical, 0.5 mm long, glabrous. Style exserted, exceeding corolla mouth by 1.5 mm in long-styled flowers, or included in short-styled flowers. Fruits ovoid with truncate apex, 11 × 7–8 mm when fresh, 7–10 × 5–7 mm when dry, dark red-brown and hard when immature, cherry red when mature, glabrous, sessile, crowned with persistent calyx 2.5–4 mm in diameter. Pyrenes plano-convex, hemi-obovoid to hemi-ellipsoid, 9 × 6.5 mm, dorsal side smooth, ventral side smooth. Seeds with a deep T-shaped ventral furrow. Distribution and ecology: —This species is only known from French Guiana (Fig. 5), where it occurs on the main summits of the central Inini-Camopi chain (Mts Atachi Bacca to Mts Bakra) and disjunctly at low altitudes in the northeast; it should be expected in adjacent parts of Suriname and Brazil. It is apparently restricted to relatively low forests on rocky substrates, 5-800 m in elevation, and is locally abundant. Phenology: —Flowering collections were made in January, May and August; fruiting collections in January, March–April (full-sized, but still hard) and August (mature fruits). As in the similar Rudgea billietiae, the fruits probably take several months to mature. Notes: —This species, originally described in Psychotria (Steyermark 1972), was recently transferred to Rudgea (Taylor et al. 2015) but its affinities within the genus were still unclear. Taylor and Bruniera (2018) mentioned its similarity to the R. bracteata J.H. Kirkbride (1981: 97) group, especially because of the well-developed bracts, but members of that group have larger fruits, and stipules with a prominent dorsal keel and without marginal appendages. The involucrate inflorescences and narrowly tubular stipules of R. pungens are unusual characters in Rudgea, but the discovery of R. billietiae, with similar stipules and lax inflorescences, links it to R. cornigera, R. hostmanniana and R. tanaosepala, which have lax inflorescences and shorter stipular sheaths. The differences between these species are summarised in Table 1. The original description of the species was based on a single specimen without fruits or corollas, and is therefore incomplete on several points. The species is now known from additional complete material, which allows to present here a full description; only the interior of the corolla tube cannot be described, because the flowers are too few for a dissection to be made. The dimensions in brackets refer to a vegetative collection (Granville 4002) from Mount Bakra, French Guiana, which has slightly larger leaves and stipules; though it almost certainly belongs to this species, confirmation with reproductive material from the same area would be reassuring. Specimens Examined: — FRENCH GUIANA. Crique Kapiri – RN2, bassin de l’Approuague, 4°07’N, 52°05’W, 11 January 1991 (fallen fl.), G . Cremers 11474 (CAY); savane-roche [inselberg] Virginie, 4°11’N, 52°08’W, 18 February 2009 (fallen fl.), C . Delnatte, F. Billiet, J.- J. de Granville & B. Jadin 1682 (CAY); Fleuve Sinnamary, rive droite, layon ONF (n°7) direction Sud, à 7 km du fleuve, 1 May 1969 (fl.), J.- J . de Granville 128 (CAY); sommet des Monts Atachi Bacca, 4 March 1971 (fr.), J.- J . de Granville 765 (CAY, P); Monts Galbao, 10 km WSW Saül, 14 March 1973 (imm. fr.), J.- J . de Granville 1534 (CAY, P); Monts Bakra, versant Sud, 5 km WSW du pic Coudreau, 28 September 1980 (st.), J.- J . de Granville 4002 (CAY, P); Montagne Bellevue de l’Inini, zone centrale, 23 August 1985 (fl. & imm. fr.), J.- J . de Granville, L. Allorge, G. Cremers, A. R. A. Görts-van Rijn & J. F. Kodjoed 7770 (BR, CAY, P); Crique Gabaret, bassin de l’Oyapock, Saut Mérignan, 13 April 1988 (fallen fl.), J.- J . de Granville 10275 (CAY); Monts Atachi Bacca, versant Nord, 9 km au SE de Gobaya Soula, 3°33’N, 53°55’W, 12 January 1989 (fl.), J.- J . de Granville, G. Cremers, J. I. Hagemann, B. E. Leuenberger, R. W. Sanders & M. Sangrey 10616 (CAY, P); Monts Atachi Bacca, est du plateau sommital, 3°33’N, 53°55’W, 22 January 1989 (fr.), J.- J . de Granville, G. Cremers, J. I. Hagemann, B. E. Leuenberger, R. W. Sanders & M. Sangrey 10861 (CAY, P); layon Régina – Kaw, 4°21’W – 52°08’W, 7 August 1997 (fallen fl.), V . Hequet 688 (CAY); Route Régina – Saint Georges, piste de la savane-roche [inselberg] Virginie, 4°11’05”N, 52°08’13”W, 6 April 2014 (fr.), O . Lachenaud 1720 (BR, CAY, L, MO, P); without locality, s.d. (fl.), L.C.M. Richard s.n. (P [P04008549], mixed with R. billietiae); sommet nord du Mont Galbao, 29 January 1978 (fallen fl.), Tay 91 (MPU) .Published as part of Lachenaud, Olivier, Bruniera, Carla P. & Zappi, Daniela C., 2022, The Rudgea hostmanniana complex (Rubiaceae) in the Guiana Shield region, pp. 219-242 in Phytotaxa 561 (3) on pages 236-237, DOI: 10.11646/phytotaxa.561.3.1, http://zenodo.org/record/706987
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