ABSTRACT
Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with sporadic ALS in the European population, making this mutation one of the most prevalent genetic mutations in ALS. Here, we generated a human induced pluripotent stem cell (hiPSC) line from the dermal fibroblasts of a patient carrying a 56-repeat expansion in an ALS disease-causing allele of C9orf72. These iPSCs showed stable amplification in vitro with normal karyotype and high expression of pluripotent markers and differentiated spontaneously in vivo into three germ layers.
Subject(s)
Amyotrophic Lateral Sclerosis , C9orf72 Protein , DNA Repeat Expansion , Induced Pluripotent Stem Cells , Humans , Induced Pluripotent Stem Cells/metabolism , C9orf72 Protein/genetics , C9orf72 Protein/metabolism , Amyotrophic Lateral Sclerosis/genetics , Amyotrophic Lateral Sclerosis/pathology , Cell Differentiation , Fibroblasts/metabolism , Cell Line , MaleABSTRACT
Little work has been done to quantify the number of eggs oviposited by blow flies (Diptera: Calliphoridae) in studies examining colonization behavior. Egg counting methods currently available are time-consuming and destructive. This study used ImageJ software and analysis of covariance to relate the volume of egg masses to the number of eggs laid by three different blow fly species: Lucilia sericata (Meigen), Phormia regina (Meigen), and Chrysomya rufifacies (Macquart). Egg mass volume, species, and the interaction of species and egg mass volume all affected the number of blow fly eggs deposited in egg masses. Both species identity and egg mass volume are important when predicting egg number, as such a single regression equation cannot be used to estimate egg number for these three species. Therefore, simple linear regression equations were determined for each species. The volume of individual eggs was incorporated into the model, yet differences between species were observed, suggesting that the orientation of the eggs oviposited by multiple conspecific females within egg masses influences egg estimates. Based on our results, we expect that imaging software can be used for other blow fly species, as well as other insect species; however, equations specific to each species must be developed. This study describes an important tool for quantifying egg deposition in a nondestructive manner, which is important in studying the colonization behavior and life history of insects of ecological and forensic importance.
Subject(s)
Clutch Size/physiology , Diptera/physiology , Embryo, Nonmammalian/physiology , Photography/methods , Animals , Female , Linear Models , OvipositionABSTRACT
c-Myc is a transcriptional regulator involved in carcinogenesis through its role in growth control and cell cycle progression. Here we attempt to relate its role in stimulating the G1-S transition to the ability to affect functioning of key cell cycle regulators, and we focus on how its property of modulating transcription of a wide range of target genes could explain its capacity to affect multiple pathways leading to proliferation, apoptosis, growth, and transformation.
Subject(s)
Cell Cycle , Proto-Oncogene Proteins c-myc/metabolism , Animals , Cell Cycle/genetics , Cell Cycle Proteins/metabolism , Cell Division/genetics , Cyclin-Dependent Kinases/metabolism , Cyclins/metabolism , G1 Phase/genetics , Gene Expression Regulation , Proto-Oncogene Proteins c-myc/genetics , S Phase/genetics , Transcription, GeneticABSTRACT
Dando maior enfase as alteracoes neurologicas, sao analisadas as caracteristicas clinicas de cinco pacientes com endocardite infecciosa. Os disturbios neuropsiquiatricos, em muitos casos desta patologia, sao os que abrem a cena clinica do enfermo ou sao as alteracoes que dominam a atencao do examinador, na fase inicial dificultando o reconhecimento da verdadeira origem dos achados de exame clinico.A presenca de sindromes neurologicas, na endocardite infecciosa, ensombrece o prognostico, sendo responsavel por morbidade e mortalidade. Os achados de exame fisico, de tomografia computadorizada cerebral, de cirurgia e de necropsia sao apresentados, demonstrando a multiplicidade e gravidade desta ocorrencia que parece nao ter diminuido com a introducao dos antibioticos.Nesta enfermidade, mesmo em presenca de queixas pequenas, tais como cefaleia persistente, estados confusionais, disturbios psiquiatricos ou, ainda, de discretas alteracoes liquoricas torna-se cada vez mais premente que realizemos uma investigacao completa, incluindo tomografia computadorizada cerebral e estudos angiograficos, para esclarecimentos e/ou determinar a conduta medica a ser seguida
