Epistemología y pedagogía: Ensayo Histórico Crítico Sobre El Objeto Y Método Pedagógicos by José Iván Bedoya at – ISBN Epistemologia y Pedagogia Jose Ivan. Uploaded by ANDRES JIMENEZ. JOSE IVAN BEDOYA MADRID. Copyright: © All Rights Reserved. Download as PDF or . Epistemología y pedagogía: Ensayo histórico critico sobre el objeto y método By José Iván Bedoya. About this book · Ecoe Ediciones. Pages displayed by.

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People with Gaucher disease type 1 are at increased risk for Parkinson’s disease and Lewy Body Dementia. Gaucher disease type 2 is usually fatal Glucocerebrosidase deficiency; Glucosylceramidase deficiency; Lysosomal storage disease – Gaucher Krasnewich DM, Sidransky E. Goldman L, Schafer AI, eds. Gaucher cell, photomicrograph image. Gaucher disease is called a “lipid storage disease” where abnormal amounts of lipids called “glycosphingolipids” are stored in special cells called reticuloendothelial iavn.

Classically, the nucleus is Gaucher Disease in Pregnancy. You may also have new symptoms start during pregnancy.

Epistemología Y Pedagogía

Women with Gaucher disease are at an increased risk Gaucher cell, photomicrograph 2 image. Renal pexagogia in Gaucher ‘s disease. A patient with chronic Gaucher ‘s disease is described who developed glomerulopathy 24 years after splenectomy terminating in renal failure.

The pathological changes of this very rare complication of Gaucher ‘s disease are described. The few similar cases reported in the literature are reviewed and the possible pathogenetic pathways discussed. ACE phenotyping in Gaucher disease.

Gaucher disease is characterized by the activation of splenic and hepatic macrophages, accompanied by dramatically increased levels of angiotensin-converting enzyme ACE.

To evaluate the source of the elevated blood ACE, we performed complete ACE phenotyping using blood, spleen and liver samples from patients with Gaucher disease and controls. The conformation of ACE is tissue-specific.

In Gaucher disease, ACE produced by activated splenic macrophages differs from that in hepatic macrophages, as well as from macrophages and dendritic cells in sarcoid granulomas.

The observed differences are likely due to altered ACE glycosylation or sialylation in these diseased organs. The conformational differences in ACE may serve as a specific biomarker for Gaucher disease. Juvenile Gaucher disease simulating osteomyelitis. A case in which several imaging procedures suggested juvenile Gaucher disease in a child who presented with symptomatology of osteomyelitis is discussed.

The month girl was given a Technetiumm radionuclide skeletal examination which revealed ivab uptake of tracer agents along the shaft of the right femur. It was also found that the liver and spleen were dramatically Ga avid.

The bone pain symptomatology suggested an osteomyelitis of the femur, but skeletal scintigraphy with Tcm-labeled bone tracer demonstrated photopenic areas involving the femur, suggesting that the bone pain may have been due to marrow packed with Gaucher cells.

The radiogallium study was useful to exclude an underlying osteomyelitis in the involved femurs. Although juvenile Gaucher disease is unusual, it should be considered in any child who presents with the constellation of hepatosplenomegaly and bone pain simulating osteomyelitis. This includes siblings, parents, and children as well as more distant relatives such as Websites and brochures that have been useful for Immunological Cells and Functions in Gaucher Disease.

The excess of glucosylceramide Joxe in such cells accounts for some of the disease manifestations. These immune responses could be essential for activation of T- and B-cell subsets, and the induction of numerous cytokines and chemokines that participate in the initiation and propagation of the molecular pathogenesis of Gaucher disease. The association of Gaucher disease with a variety of cellular and humoral immune responses is hedoya here to provide a potential foundation for expanding the complex pathophysiology of Gaucher disease.

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Mutation analysis of Australasian Gaucher disease patients.

Calaméo – Portada Y Prologo Epistemologia Y Pedagogia Jose I Bedoya (1)

We have previously reported phenotype and genotype analyses in 28 Australasian Gaucher patients who were screened for several of the common Gaucher mutations: Horowitz and Zimran have reported that the complex alleles recNciI and recTL, which contain several point mutations including LP, are relatively common, especially in non-Jewish Gaucher patients. Zimran and Horowitz have also stated that these recombinant alleles could easily be missed by laboratories testing only for the common Gaucher point mutations.

Failure to correctly identify these mutations would influence any attempt to correlate genotype with phenotype. A designer therapy, which harnesses the mannose receptor to complement the functional defect in macrophages, ameliorates the principal clinical manifestations in hematopoietic bone marrow and viscera.

Epistemología y pedagogía: Ensayo histórico critico sobre el objeto y método …

While several aspects of Gaucher disease particularly those affecting the skeleton and brain are refractory to treatment, enzyme replacement therapy has become a pharmaceutical blockbuster. Lvan unprecedented success of Cerezyme has attracted fierce competition: Oral treatments have advantages over biological agents for disorders requiring lifelong therapy and additional stratagems which utilize small, orally active molecules have been introduced; these include two chemically distinct compounds which inhibit uridine diphosphate glucose: N-acylsphingosine glucosyltransferase, the first step in the biosynthesis of glucosylceramide – a key molecular target episttemologia Gaucher disease and other glycosphingolipidoses.

Academic and commercial enterprises in biotechnology have combined strategically to expand the therapeutic repertoire in Gaucher disease. The innovative potential of orphan drug legislation has been realized – with prodigious rewards for companies embracing its humanitarian precepts.

N-acylsphingosine glucosyltransferase, the first step in the biosynthesis of glucosylceramide — a key molecular target in Gaucher disease and other glycosphingolipidoses.

The innovative potential of orphan drug legislation has been realized — with prodigious rewards for companies embracing its humanitarian precepts.

Gaucher ‘s disease with myocardial involvement besoya pregnancy. Described originally inGaucher ‘s disease is the most prevalent of storage disorders.

This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramide in the lysosomes of the reticuloendothelial system produces elistemologia heterogeneous clinical picture with neurological involvement, liver and spleen enlargement, hematological disorders and bone lesions.

Two pregnancies of a patient with Gaucher ‘s disease are presented. The patient, who had been asymptomatic following earlier splenectomy, developed congestive heart failure due to myocardial involvement at the beginning of her first pregnancy, and responded to conservative treatment.

In spite of this complication and also chronic anemia, hepatomegaly and ascites due to portal hypertension, the patient had two successful pregnancies with good perinatal results. No hemorrhagic complications were observed. Clinical manifestations and management of Gaucher disease. However, severity and coexistence of different symptoms are highly variable.

Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients.


Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed epiwtemologia symptom relief, general improvement of quality of life, and prevention of irreversible damage. Gaucher disease and other storage disorders.

InPhilippe Gaucher described a year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a “primary epithelioma of the spleen. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the peadgogia for development of specific therapies for what is now known as Gaucher disease.


As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus dpistemologia the expansion of similar research and therapeutic developments for other lysosomal storage diseases LSDs and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice.

Mild thrombocytopenia as presenting symptom of type 1 Gauchers ‘s disease. A young woman was examined for a mild thrombocytopenia which was present for some months. No signs of bleeding had so far occurred. Physical examination was normal except for a moderately enlarged spleen. Laboratory investigations showed a low platelet count. There was no evidence of an autoimmune dee hematologic disease. Bone narrow aspirate indicated Gaucher pedaggoia cells raising the suspicion of Gaucher ‘s disease.

This ivam further supported by electron microscopic demonstration of Gaucher ‘s bodies in crista biopsy specimens. However, the definitive diagnosis was obtained by verifying deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes.

Upon the absence of neurologic involvement the patient was typical for the adult-onset or type 1 form of Gaucher ‘s disease. A young woman with no previous history of any diseases was admitted for further evaluation of a mild thrombocytopenia she has had for some months.

No signs of bleeding have so far occurred. Routine investigations showed lower platelet count. Bone marrow aspirate indicated Gaucher ‘s-like cells raising the suspicion of Gaucher ‘s disease. This was further supported by electron microscopic demonstration of Gaucher ‘s bodies with the characteristic tubular structures in crista biopsy specimens.

However, definitive diagnosis was obtained by verifying deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes.

Upon the absence of neurologic involvement the patient was typical for the adult form or type-1 Gaucher ‘s disease. Identification of six new Gaucher disease mutations. The A mutation, however, was observed in four unrelated individuals. Molecular characterization of infants with type 2 Gaucher disease. Type 2 acute neuronopathic Gaucher disease was previously thought to be stereotypic in presentation with neurologic deterioration and death by age years.

However, the generation of a null allele knock-out Gaucher mouse led to the recognition of a subset of type 2 patients who die as neonates.

Mutational analysis revealed genotypic heterogeneity in each group. Northern blots demonstrated that transcription was intact even in the neonatal lethal patients. However, the more severe type 2 patients had virtually no protein on Western, indicating that the transcript is either not appropriately translated or results in an unstable protein.

Thus type 2 Gaucher disease exhibits more phenotypic, genotypic and biochemical heterogeneity than previously appreciated. Association Between Progranulin and Gaucher Disease. These findings not only provide new insight into the pathogenesis of GD, but may also have implications for diagnosis and alternative targeted therapies for GD.

Treatment patterns from patients with Gaucher disease: An analysis from the Gaucher Outcome Survey. The Gaucher Outcome Survey GOS is an international disease-specific registry established in for patients with a confirmed diagnosis of Gaucher disease GDregardless of GD type or treatment status.