499 research outputs found
[Colorectal cancer (CCR): genetic and molecular alterations]
No full textThe aim of this review is to present a genetic and molecular overview of colorectal carcinogenesis (sporadic and hereditary origin) as a multistage process, where there are a number of molecular mechanisms associated with the development of colorectal cancer and genomic instability that allows the accumulation of mutations in proto-oncogenes and tumor suppressor genes, chromosomal instability, and methylation and microsatellite instability, and the involvement of altered expression of microRNAs' prognosis factors
And molecular genetic alterations: Colorectal cancer (CRC) [Cáncer colorrectal (CCR): Alteraciones genéticas y moleculares]
No full textThe aim of this review is to present a genetic and molecular overview of colorectal carcinogenesis (sporadic and hereditary origin) as a multistage process, where there are a number of molecular mechanisms associated with the development of colorectal cancer and genomic instability that allows the accumulation of mutations in proto-oncogenes and tumor suppressor genes, chromosomal instability, and methylation and microsatellite instability, and the involvement of altered expression of microRNAs' prognosis factors
And molecular genetic alterations: Colorectal cancer (CRC) [Cáncer colorrectal (CCR): Alteraciones genéticas y moleculares]
No full textThe aim of this review is to present a genetic and molecular overview of colorectal carcinogenesis (sporadic and hereditary origin) as a multistage process, where there are a number of molecular mechanisms associated with the development of colorectal cancer and genomic instability that allows the accumulation of mutations in proto-oncogenes and tumor suppressor genes, chromosomal instability, and methylation and microsatellite instability, and the involvement of altered expression of microRNAs' prognosis factors
Type 2 diabetes mellitus and colorectal cancer: Possible molecular mechanisms associated [Diabetes mellitus tipo 2 y c�ncer colorrectal: Posibles mecanismos moleculares asociados]
No full textThis paper presents a brief description of the possible molecular mechanisms associated with colorectal carcinogenesis in patients with type 2 diabetes mellitus. Among the molecular mechanisms involved is the activation of signaling pathways including: insulin, growth factors similar to insulin, Wnt-?catenin and mTOR, involving genes encoding growth factors, proinflammatory cytokines, and oncogenes. Therefore, in patients with type 2 diabetes, we should consider methods for early detection of colorectal cancer in order to provide timely treatment
Type 2 diabetes mellitus and colorectal cancer: Possible molecular mechanisms associated [Diabetes mellitus tipo 2 y cáncer colorrectal: Posibles mecanismos moleculares asociados]
No full textThis paper presents a brief description of the possible molecular mechanisms associated with colorectal carcinogenesis in patients with type 2 diabetes mellitus. Among the molecular mechanisms involved is the activation of signaling pathways including: insulin, growth factors similar to insulin, Wnt-βcatenin and mTOR, involving genes encoding growth factors, proinflammatory cytokines, and oncogenes. Therefore, in patients with type 2 diabetes, we should consider methods for early detection of colorectal cancer in order to provide timely treatment
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
No full textLysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The pathophysiology of the LSD is due to abnormal accumulation of non-hydrolyzed substrate in the lysosomes, affecting the architecture and function of cells, tissues and organs. Due to their genic and allelic heterogeneity, the LSD present a wide clinical spectrum in severity of symptoms, evolution and age of onset. The therapeutic strategy has two goals: 1) Palliative management of symptoms (splenectomy, surgery to improve or restore joints or bones, drugs for CNS symptoms, etc.), and 2) The correction of activity of the mutant protein, the former has two approaches: A) Replacing deficient protein (bone marrow transplantation, hematopoietic stem cells or umbilical cord blood cells; replacement with recombinant enzyme and gene therapy) and B) Activate or enhanced the functionality of the mutant enzyme with therapeutic small molecules. Neither of the known treatments is able to address all aspects of these multisystemic disorders, nor cure the patients. Currently, the combination of corrective therapy (CT) with paliative therapy (PT) is the most promising strategy to solve most of the multisystem manifestations. The multidisciplinary medical care is fundamental for diagnosis, treatment and control of disease. Nanotechnology opens a promising new era in the treatment of LSD. Finally, the LSD that has CT must be included in newborn screening programs in order to implement timely treatment and prevent irreversible damage
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
No full textLysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The pathophysiology of the LSD is due to abnormal accumulation of non-hydrolyzed substrate in the lysosomes, affecting the architecture and function of cells, tissues and organs. Due to their genic and allelic heterogeneity, the LSD present a wide clinical spectrum in severity of symptoms, evolution and age of onset. The therapeutic strategy has two goals: 1) Palliative management of symptoms (splenectomy, surgery to improve or restore joints or bones, drugs for CNS symptoms, etc.), and 2) The correction of activity of the mutant protein, the former has two approaches: A) Replacing deficient protein (bone marrow transplantation, hematopoietic stem cells or umbilical cord blood cells; replacement with recombinant enzyme and gene therapy) and B) Activate or enhanced the functionality of the mutant enzyme with therapeutic small molecules. Neither of the known treatments is able to address all aspects of these multisystemic disorders, nor cure the patients. Currently, the combination of corrective therapy (CT) with paliative therapy (PT) is the most promising strategy to solve most of the multisystem manifestations. The multidisciplinary medical care is fundamental for diagnosis, treatment and control of disease. Nanotechnology opens a promising new era in the treatment of LSD. Finally, the LSD that has CT must be included in newborn screening programs in order to implement timely treatment and prevent irreversible damage
Silene astartes C.I. Blanche ex Boiss., Fl. Orient. Suppl.
No full textSilene astartes C.I. Blanche ex Boiss., Fl. Orient. Suppl.: 102. 1888. Lectotypus (designated here): Lebanon . Prov. Mount-Lebanon: Djebaïl, ruines d’AFka, VI-VII.1880, fl. & Fr., Blanche 55 (G-BOIS [G00330604]!; isolecto-: BEI!, G [G00341654]!) (Fig. 1). Notes. – Boissier (1888) published S. astartes in the “Supplementum oF the Flora Orientalis”. He wrote “ S. astartes (Blanche in litt.)” beFore the Latin description. Ŋe mention oF Blanche as the author “in litt.” by Boissier has been interpreted in different ways in the literature. Floras oF Lebanon have cited only C.I. Blanche as the author oF the species (sometimes with the mention “in Boiss.”; Post, 1896, 1932; ThiÉbaut, 1936; Mouterde, 1966; TohmÉ & TohmÉ, 2007), whereas BouloumoY (1930) interpreted the authorship as “Boiss. et B.” [Boiss. & C.I. Blanche]. In the Boissier’s Herbarium oF the “Flora Orientalis” (G-BOIS), Blanche 55 contains a handwritten note by Blanche himselF with a Latin description oF the species (Fig. 1). However this description differs considerably From the protologue where Boissier published a new and more complete description by validating the name (Boissier, 1888: 102). We thereFore ascribe Boissier as the author oF S. astartes in accordance with Greuter et al. (1984) and not as C.I. Blanche as mentioned in the latest flora oF Lebanon treatment (TohmÉ & TohmÉ, 2007). Boissier (1888) clearly cited two gatherings in the protologue: “Hab. in Libano supra Djebail ad minas AFka (Bl.!)” and “ad Ain SuFar (Peyron!)”. Only Blanche 55 [G00330604] is present in G-BOIS. We Found three duplicates oF the Peyron collection at G and one at P. Each oF them bears the locality “Ain SuFar” and are dated June 11, 1882. Two oF them have the collection number 1379 mentioned [G00341656, P04987226]) and two [G00341655, G00341657] without any number. All these collections have a glandular-pubescent calyx and match Fully with S. italica (L.) Pers. and not with S. astartes, which has a calyx always glabrous. ŊereFore, we choose Blanche 55 housed at G-BOIS as the lectotype, which is the only material present at G-BOIS and exclude the remaining syntypes From S. astartes.Published as part of Pierre-Emmanuel Du Pasquier & Daniel Jeanmonod, 2016, Lectotypification of three species of Silene sect. Italicae (Rohrb.) Schischk. (Caryophyllaceae), pp. 19-22 in Candollea 71 (1) on page 21, DOI: 10.15553/c2016v711a4, http://zenodo.org/record/16204
Characterization of the 5? and 3? breakpoints of the Spanish (??)0-thalassemia deletion in Mexican patients
No full textThe Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. " INNN 2012.",,,,,,,,,"http://hdl.handle.net/20.500.12104/40008","http://www.scopus.com/inward/record.url?eid=2-s2.0-84887435229&partnerID=40&md5=4c40cb9231b6f09fa1e175e8b36db5b6",,,,,,"2",,"Archivos de Neurociencias",,"11
Charcot-marie-tooth: Present situation and prospects [Enfermedad de charcot-marie-tooth: Actualidad perspectivas]
No full textThe Charcot-Marie-Tooth disease is defined as a sensory-motor polineurophatic abnormality, of demyelinating or axonal type, and genetic and clinical heterogeneity. Objective: This review is intended to update the clinical spectrum of this disease, as well as to know the molecular and therapeutic advances that contribute to understand and manage better this heterogeneous entity. Development: The Charcot-Marie-Tooth disease is a genetically complex syndrome with more than 30 associated genes; it is one of the more common hereditary neuropathies, whose reports indicate an estimated prevalence of 17-25 cases / 100,000 inhabitants. The clinical spectrum is broad, without an established genotype-phenotype correlation; however, there are a number of clinical features that allow their inclusion in several clinical subtypes. Typically, the patients present with distal muscle weakness and atrophy often associated with foot sensory loss and mild to moderate depression of tendon reflexes. Conclusions: The Charcot-Marie-Tooth classification is complex and constantly subject to a review of new genes and mutations. The observed clinical variability coincides with the involvement of different genes and proteins that help maintain function and integrity of the peripheral nerve, so that they become an important research target for developing new and better therapies. © INNN 2012
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