Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility

Small bowel accounts for only 0.5% of cancer cases in the US but incidence rates have been rising at 2.4% per year over the past decade. One-third of these are adenocarcinomas but little is known about their molecular pathology and no molecular markers are available for clinical use. Using a retrospective 28 patient matched normal-tumor cohort, next-generation sequencing, gene expression arrays and CpG methylation arrays were used for molecular profiling. Next-generation sequencing identified novel mutations in IDH1, CDH1, KIT, FGFR2, FLT3, NPM1, PTEN, MET, AKT1, RET, NOTCH1 and ERBB4. Array data revealed 17% of CpGs and 5% of RNA transcripts assayed to be differentially methylated and expressed respectively (p < 0.01). Merging gene expression and DNA methylation data revealed CHN2 as consistently hypermethylated and downregulated in this disease (Spearman -0.71, p < 0.001). Mutations in TP53 which were found in more than half of the cohort (15/28) and Kazald1 hypomethylation were both were indicative of poor survival (p = 0.03, HR = 3.2 and p = 0.01, HR = 4.9 respectively). By integrating high-throughput mutational, gene expression and DNA methylation data, this study reveals for the first time the distinct molecular profile of small bowel adenocarcinoma and highlights potential clinically exploitable markers.

Contribuição parental do linguado do Senegal, Solea senegalensis (KAUP 1858), em aquacultura

Dissertação mest., Biologia Marinha, Universidade do Algarve, 2008

Evaluation of enzymatic and metabolic parameters of quality in sole eggs (Solea Senegalensis, Kaup, 1858)=Avaliação dos parâmetros enzimáticos e metabólicos de qualidade em ovos de linguado (Solea senegalensis, Kaup, 1858)

Dissertação de mest., Biologia Marinha, Faculdade de Ciências do Mar e Ambiente, Univ. do Algarve, 2008

Avaliação da inclusão de EVOCOL em dietas formuladas para juvenis de Linguado (Solea senegalensis, Kaup 1858)

Dissertação de mest., Biologia Marinha, Faculdade de Ciências do Mar e do Ambiente, Univ. do Algarve, 2010

Sobrevivência e crescimento de juvenis de cavalos-marinhos (Hippocampus sp.): caso de estudo: Hippocampus erectus (Perry, 1810)

Dissertação de mest., Ciências, Faculdade de Ciências do Mar e do Ambiente, Univ. do Algarve, 2009

Um drama da crítica: Oscar Wilde, Walter Pater e Matthew Arnold, lidos por Fernando Pessoa

Tese de doutoramento, Estudos da Literatura e da Cultura (Teoria da Literatura), Universidade de Lisboa, Faculdade de Letras, 2014

O Seminário Episcopal da Conceição na formação das elites de Mato Grosso - Brasil (1858-1880)

Tese de doutoramento, Educação (História da Educação), Universidade de Lisboa, Instituto de Educação, 2015

Perry Syndrome

Disease characteristics. Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. Diagnosis/testing. The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene known to be associated with Perry syndrome. Management. Treatment of manifestations: Dopaminergic therapy (particularly levodopa/carbidopa) should be considered in all individuals with significant parkinsonism. Although response to levodopa is often poor, some individuals may have long-term benefit. Noninvasive or invasive ventilation support may improve quality of life and prolong life expectancy. Those patients with psychiatric manifestations may benefit from antidepressants and psychiatric care. Weight loss is managed with appropriate dietary changes. Surveillance: routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), strength; and mood. Agents/circumstances to avoid: Central respiratory depressants (e.g., benzodiazepines, alcohol). Genetic counseling. Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to de novo mutations is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation. No laboratories offering molecular genetic testing for prenatal diagnosis are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.

Geografia associativa e imperialismo svizzero. Il caso di Ginevra (1858-1914)

ASSOCIATIVE GEOGRAPHY AND SWISS IMPERIALISM. THE EXAMPLE OF GENEVA (1858-1914) − This article is about geographical society of Geneva and its involvement in the 19th century colonial imperialism. Through this society, Swiss bourgeoisie takes part in the exploration and colonization of the world. Is this participation a sign of Swiss imperialism? This issue will be at the heart of this study.

Geografisk och historisk karta öfver Finland till skolornes bruk 1858

1 kartta kahdessa osassa :, vär. ;, 53,3 x 44,1 cm, lehti 59 x 48 cm

Mémoire sur le calendrier arabe avant l'islamisme et sur la naissance et l'âge du prophète Mohammad : présenté à la séance de l'Académie, le 3 avril 1858 / par Mahmoud-Effendi,...

Comprend : Rapport sur le mémoire de M. Mahmoud ; Rapport sur le mémoire de M. Mahmoud

Guide des constructeurs (Paris. 1858)

Périodicité : Trois fois par mois ; mensuel (irrégulier)

Torre del Greco distrutta nel 1794 : [vue du site et du Vésuve en éruption] : [peinture]

Collectionneur : Lesouëf, Auguste (1829-1906)