Protein S deficiency

In 1977, three years after the discovery of the γ-carboxy glutamic acid,[1][1] Richard DiScipio reported on the identification of a new vitamin K-dependent protein which was named protein S.[2][2] Three years later, Frederick Walker reported that bovine protein S functioned as a cofactor t

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

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Problemáticas de la innovación en la ganadería bovina de la provincia de Chaco: enfoque cualitativo

El presente trabajo de investigación, realizado en dos regiones chaqueñas: Oeste y Este, con criterio multienfoque,interdisciplinario y con fuerte participación de los productores, brinda un diagnóstico de la percepción de la ganadería bovina para carne y de las razones que subyacen a la toma de decisión en adopción de tecnologías, sean éstas de proceso o de insumo. El trabajo va mas allá de la mirada técnica, dado que se construyó a partir de la visión del contexto de los productores ganaderos, valorando sus palabras, experiencias, saberes, preocupaciones y problemas. En virtud de ello, se provee información valiosa para propiciar una construcción colectiva de propuestas de intervención acordes a la complejidad de la problemática encontrada en la región.Instituto de EconomíaFil: Ondo Misi, Sergio Gustavo. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Sáenz Peña; ArgentinaFil: Giancola, Silvana Ines. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Ciencias Políticas, Económicas y Sociales. Instituto de Economía; ArgentinaFil: Pellerano, Laura. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Colonia Benítez; ArgentinaFil: Calvo, Sonia Cecilia. Universidad Nacional de Córdoba. Facultad de Ciencias Agropecuarias; ArgentinaFil: Balbuena, Osvaldo. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Colonia Benitez; ArgentinaFil: D'angelo, Maria Leonor. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro Regional Chaco-Formosa; ArgentinaFil: Buschiazzo, Marina. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Sáenz Peña; ArgentinaFil: Di Giano, Silvina. Investigadora independiente; ArgentinaFil: Gatti, Nicolás. Instituto Nacional de Tecnología Agropecuaria (INTA). Centro de Investigación en Ciencias Políticas, Económicas y Sociales. Instituto de Economía; ArgentinaFil: Ferber, Otto Federico. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Sáenz Peña; Argentin

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

<p>Abstract</p> <p>Background</p> <p>Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD and 85% in BMD. The implementation of techniques allowing complete gene sequencing has focused attention on small point mutations and other mechanisms underlying complex rearrangements.</p> <p>Methods</p> <p>We selected 47 patients (41 families; 35 DMD, 6 BMD) without deletions and duplications in <it>DMD </it>gene (excluded by multiplex ligation-dependent probe amplification and multiplex polymerase chain reaction analysis). This cohort was investigated by systematic direct sequence analysis to study sequence variation. We focused our attention on rare mutational events which were further studied through transcript analysis.</p> <p>Results</p> <p>We identified 40 different nucleotide alterations in DMD gene and their clinical correlates; altogether, 16 mutations were novel. DMD probands carried 9 microinsertions/microdeletions, 19 nonsense mutations, and 7 splice-site mutations. BMD patients carried 2 nonsense mutations, 2 splice-site mutations, 1 missense substitution, and 1 single base insertion. The most frequent stop codon was TGA (n = 10 patients), followed by TAG (n = 7) and TAA (n = 4). We also analyzed the molecular mechanisms of five rare mutational events. They are two frame-shifting mutations in the <it>DMD </it>gene 3'end in BMD and three novel splicing defects: IVS42: c.6118-3C>A, which causes a leaky splice-site; c.9560A>G, which determines a cryptic splice-site activation and c.9564-426 T>G, which creates pseudoexon retention within IVS65.</p> <p>Conclusion</p> <p>The analysis of our patients' sample, carrying point mutations or complex rearrangements in <it>DMD </it>gene, contributes to the knowledge on phenotypic correlations in dystrophinopatic patients and can provide a better understanding of pre-mRNA maturation defects and dystrophin functional domains. These data can have a prognostic relevance and can be useful in directing new therapeutic approaches, which rely on a precise definition of the genetic defects as well as their molecular consequences.</p

Risk for renal failure in nephrolithiasis.

Evaluation of the risk for developing renal insufficiency is generally not considered during the clinical metabolic workup of the stone-forming patient. This review approaches the problem of the severity of nephrolithiasis by addressing the renal risk. Although renal stones are an infrequent cause of renal failure, some lithiasic forms present a greater risk, such as in hereditary stone diseases (eg, cystinuria, primary hyperoxaluria, Dent's disease), primary struvite stones, and infection-related urolithiasis associated with anatomic and functional urinary tract anomalies and spinal cord injury. Recurrent bouts of obstruction and/or crystal-specific biological effects on tubular epithelial cells and interstitial renal cells may activate the fibrogenic cascade responsible for the loss of renal parenchyma. In clinical terms, frequent stone relapses, episodes of urinary tract infection and obstruction, number of urological interventions, and size of the gravel are all significantly associated with the risk for renal failure. Percutaneous and extracorporeal urological methods for the treatment of renal stones may also lead to some chronic deterioration of renal function, particularly in recurrent stone formers treated with multiple therapeutic sessions. Although still speculative, concerns exist about the effect of extracorporeal shock wave lithotripsy on small or pathological kidneys. Without doubt, the medical prevention of stones would be more sensible

Italian Geological mapping of submerged areas and its contribution to EMODnet – European Marine Observation and Data Network

Il Progetto di Cartografia Geologica Italiana (CARG) include la rappresentazione delle aree sommerse, per le quali sono state elaborate dal Servizio Geologico d'Italia – ISPRA linee guida dedicate che seguono, per quanto possibile, gli stessi criteri adottati per le aree emerse. La rappresentazione cartografica delle aree sommerse si concentra sulla stratigrafia (sequenza deposizionale post-glaciale), sull'interpretazione dei processi sedimentari in un quadro ambientale e evolutivo, sulla morfologia e sulla sedimentologia dei fondali marini. Tutte le informazioni raccolte nel corso dei rilevamenti sono archiviate in una banca dati nazionale in continuo aggiornamento, realizzata alla scala 1:25.000. I dati resi disponibili dalla Cartografia Geologica Italiana stanno contribuendo costruttivamente alla realizzazione di una cartografia geologica digitale armonizzata a livello europeo, nella quale vengono convogliate tutte le conoscenze geologiche dei diversi paesi. Tale cartografia è uno degli obiettivi del Progetto EMODnet – European Marine Observation and Data Network, finalizzato alla costruzione di una infrastruttura contenente tutte le informazioni relative alle aree sommerse e accessibile liberamente.The Italian Geological Mapping Project (CARG) includes the representation of submerged areas. For this purpose the Geological Survey of Italy - ISPRA has elaborated specific guidelines harmonized, as much as possible, with those applied on land. The cartographic representation of outcropping units focuses on stratigraphy (post-glacial depositional sequence), on the interpretation of sedimentary processes within an environmental and evolutionary framework, on the morphology and sedimentology of the seafloor. All information collected during surveys is stored in a constantly updated national database, realized at the 1: 25,000 scale. Data available from the Italian Geological Mapping Project are constructively contributing to the production of digital geological maps harmonized at European level, in which all of the geological knowledge of several countries is conveyed. These maps are one of the goals of the EMODnet - European Marine Observation and Data Network Project, aimed at building a freely accessible infrastructure containing all information related to submerged areas