Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.

Arthur Bonnicastle ; an american novel

UANL

La traduction de la littérature hispano-américaine au Québec : de l'intégration immigrante à la mondialisation éditoriale

En 2012, la traduction au Québec d'ouvrages littéraires d'auteurs issus de l'Amérique hispanique est encore un phénomène marginal. Pourtant, les entreprises de traduction de tels ouvrages se sont faites plus nombreuses au cours des vingt dernières années, et deux maisons d'édition québécoises leur ont fait la part belle : Les Écrits des Forges et Les Allusifs. La première a publié en français de nombreux canons de la poésie mexicaine tandis que la seconde possède à son catalogue (maintenant chez Leméac) bon nombre d'auteurs hispano-américains. Les efforts de ces éditeurs ont été précédés d'un premier mouvement d'accueil de la littérature hispano-américaine, mouvement principalement lié à la venue au Canada d'auteurs hispano-américains immigrants, souvent des réfugiés qui avaient fui la guerre ou la dictature dans leur pays d'origine. À partir de la théorie des champs de Pierre Bourdieu et de l’application de cette théorie à l’espace littéraire international par Pascale Casanova, ce mémoire cherche à expliquer plus en détail les conditions et logiques qui sous-tendent la traduction et l’édition des littératures hispano-américaines au Québec. Pour ce faire, il analyse la trajectoire de trois auteurs dont chacun a vu au moins un de ses titres publié en français. Ces auteurs sont le Salvadorien Horacio Castellanos Moya, dont le roman intitulé Le Dégoût a été publié aux Allusifs en 2003, le Mexicain Jaime Sabines, dont Poemas del peatón/Poèmes du piéton a été publié aux Écrits des Forges en 1997, et la Colombienne québécoise Yvonne América Truque, dont le recueil de poèmes Proyección de los silencios/Projection des silences a été publié au CÉDAH en 1986. Chacune des trajectoires illustre un modèle de production et de diffusion particulier de la littérature hispano-américaine en traduction qui s’est manifesté durant les vingt dernières années. Ensemble, elles permettent de dégager le parcours évolutif de l’édition vers une intégration de plus en plus mondialisée des mécanismes de diffusion des biens symboliques.

Role of a Novel Tetrodotoxin-Resistant Sodium Channel in the Nitrergic Relaxation of Corpus Cavernosum from the South American Rattlesnake Crotalus Durissus Terrificus

Introduction. Coitus in snakes may last up to 28 hours; however, the mechanisms involved are unknown. Aim. To evaluate the relevance of the nitric oxide (NO)-cyclic guanosine monophosphate (cGMP)-phosphodiesterase type 5 (PDE5) system in snake corpus cavernosum reactivity. Methods. Hemipenes were removed from anesthetized South American rattlesnakes (Crotalus durissus terrificus) and studied by light and scanning electronic microscopy. Isolated Crotalus corpora cavernosa (CCC) were dissected from the non-spiny region of the hemipenises, and tissue reactivity was assessed in organ baths. Main Outcome Measures. Cumulative concentration-response curves were constructed for acetylcholine (ACh), sodium nitroprusside (SNP), 5-cyclopropyl-2-[1-(2-fluorobenzyl)-1H-pyrazolo[3,4-b]pyridine-3-yl]pyrimidin-4-ylamine (BAY 41-2272), and tadalafil in CCC precontracted with phenylephrine. Relaxation induced by electrical field stimulation (EFS) was also done in the absence and presence of N omega nitro-L-arginine methyl ester (L-NAME; 100 mu M), 1H-[1, 2, 4] oxadiazolo[4,3-a]quinoxalin-1-one (ODQ; 10 mu M) and tetrodotoxin (TTX; 1 mu M). Results. The hemipenes consisted of two functionally concentric corpora cavernosa, one of them containing radiating bundles of smooth muscle fibers (confirmed by alpha-actin immunostaining). Endothelial and neural nitric oxide synthases were present in the endothelium and neural structures, respectively; whereas soluble guanylate cyclase and PDE5 were expressed in trabecular smooth muscle. ACh and SNP relaxed isolated CCC, with the relaxations being markedly reduced by L-NAME and ODQ, respectively. BAY 41-2272 and tadalafil caused sustained relaxations with potency (pEC(50)) values of 5.84 +/- 0.17 and 5.10 +/- 0.08 (N = 3-4), respectively. In precontracted CCC, EFS caused frequency-dependent relaxations that lasted three times longer than those in mammalian CC. Although these relaxations were almost abolished by either L-NAME or ODQ, they were unaffected by TTX. In contrast, EFS-induced relaxations in marmoset CC were abolished by TTX. Conclusions. Rattlesnake CC relaxation is mediated by the NO-cGMP-PDE5 pathway in a manner similar to mammals. The novel TTX-resistant Na channel identified here may be responsible for the slow response of smooth muscle following nerve stimulation and could explain the extraordinary duration of snake coitus. Capel RO, Monica FZ, Porto M, Barillas S, Muscara MN, Teixeira SA, Arruda AMM, Pissinatti, L, Pissinatti A, Schenka AA, Antunes E, Nahoum C, Cogo JC, de Oliveira MA, and De Nucci G. Role of a novel tetrodotoxin-resistant sodium channel in the nitrergic relaxation of corpus cavernosum from the South American rattlesnake Crotalus durissus terrificus. J Sex Med 2011;8:1616-1625.

An American girl in India : a novel /

Mode of access: Internet.

An American politician, a novel.

Mode of access: Internet.

An American politician : a novel /

Mode of access: Internet.

Violet, the American Sappho : a realistic novel of Bohemia /

Mode of access: Internet.

An American politician, a novel.

Mode of access: Internet.

Arthur Bonnicastle, an American novel.

Mode of access: Internet.

The American in Paris : a biographical novel of the Franco-Prussian war; the siege and commune of Paris from an American stand-point /

Mode of access: Internet.

The American novel in Germany, 1871-1913.

Photocopy.

The job; an American novel,

Mode of access: Internet.

Discovery of Novel Bacterial Cell-Penetrating Phylloseptins in Defensive Skin Secretions of the South American Hylid Frogs, Phyllomedusa duellmani and Phyllomedusa coelestis

Phylloseptin (PS) peptides, derived from South American hylid frogs (subfamily Phyllomedusinae), have been found to have broad-spectrum antimicrobial activities and relatively low haemolytic activities. Although PS peptides have been identified from several well-known and widely-distributed species of the Phyllomedusinae, there remains merit in their study in additional, more obscure and specialised members of this taxon. Here, we report the discovery of two novel PS peptides, named PS-Du and PS-Co, which were respectively identified for the first time and isolated from the skin secretions of Phyllomedusa duellmani and Phyllomedusa coelestis. Their encoding cDNAs were cloned, from which it was possible to deduce the entire primary structures of their biosynthetic precursors. Reversed-phase high-performance liquid chromatography (RP-HPLC) and tandem mass spectrometry (MS/MS) analyses were employed to isolate and structurally-characterise respective encoded PS peptides from skin secretions. The peptides had molecular masses of 2049.7 Da (PS-Du) and 1972.8 Da (PS-Co). They shared typical N-terminal sequences and C-terminal amidation with other known phylloseptins. The two peptides exhibited growth inhibitory activity against E. coli (NCTC 10418), as a standard Gram-negative bacterium, S. aureus (NCTC 10788), as a standard Gram-positive bacterium and C. albicans (NCPF 1467), as a standard pathogenic yeast, all as planktonic cultures. Moreover, both peptides demonstrated the capability of eliminating S. aureus biofilm.