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Search Results: 1 - 10 of 2464 matches for " Karin; Wielandt "
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Síndrome de Lynch: Caracterización genético clínica. Caso clínico Hereditary non-polyposis colorectal cancer: Report of four siblings
Alejandro Zárate,Karin álvarez,Ana María Wielandt,Montserrat Hevia
Revista médica de Chile , 2008,
Abstract: Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch Syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. Mutations in MLH1 and MSH2 genes account for most cases. These two genes particípate in the DNA mismatch repair pathway. Therefore mutation carriers show microsatellite instability (MSI) in tumors. This syndrome is characterized by the early development of colorectal cancer (before 50 years) and an increased incidence of cancer in other organs. We report four siblings from a family diagnosed with HNPCC. All of them were subjected to colonic surgery for colorectal cancer Moreover, one patient developed an ampulloma after her colon surgery. The molecular-genetic analysis revealed three brothers with microsatellite instability in the tumor tissue, the absence of the MLH1 protein, and the presence of a germ Une mutation localized in introm 15 ofthe MLH1 gene
Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis
Karin álvarez,Marjorie de la Fuente,Paulina Orellana,Ana María Wielandt
Revista médica de Chile , 2012,
Abstract: Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.
The Superposition Principle of Waves Not Fulfilled under M. W. Evans' O(3) Hypothesis
Erhard Wielandt
Physics , 2006, DOI: 10.1088/0031-8949/74/5/009
Abstract: In 1992 M.W. Evans proposed a so-called O(3) symmetry of electromagnetic fields by adding a constant longitudinal "ghost field" to the well-known transversal plane em waves. He considered this symmetry as a new law of electromagnetics. Later on, since 2002, this O(3) symmetry became the center of his Generally Covariant Unified Field Theory which he recently renamed as ECE Theory. One of the best-checked laws of electrodynamics is the principle of linear superposition of electromagnetic waves, manifesting itself in interference phenomena. Its mathematical equivalent is the representation of electric and magnetic fields as vectors. By considering the superposition of two phase-shifted waves we show that the superposition principle is incompatible with M.W. Evans' O(3) hypothesis.
Síndrome de Lynch: Caracterización genético clínica. Caso clínico
Zárate,Alejandro; álvarez,Karin; Wielandt,Ana María; Hevia,Montserrat; De la Fuente,Marjorie; Carvallo,Pilar; López-K?stner,Francisco;
Revista médica de Chile , 2008, DOI: 10.4067/S0034-98872008000600011
Abstract: hereditary non-polyposis colorectal cancer (hnpcc) or lynch syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. mutations in mlh1 and msh2 genes account for most cases. these two genes particípate in the dna mismatch repair pathway. therefore mutation carriers show microsatellite instability (msi) in tumors. this syndrome is characterized by the early development of colorectal cancer (before 50 years) and an increased incidence of cancer in other organs. we report four siblings from a family diagnosed with hnpcc. all of them were subjected to colonic surgery for colorectal cancer moreover, one patient developed an ampulloma after her colon surgery. the molecular-genetic analysis revealed three brothers with microsatellite instability in the tumor tissue, the absence of the mlh1 protein, and the presence of a germ une mutation localized in introm 15 ofthe mlh1 gene
Near-field seismic displacement and tilt associated with the explosive activity of Stromboli
E. Wielandt,T. Forbriger
Annals of Geophysics , 1999, DOI: 10.4401/ag-3723
Abstract: Broadband seismic recordings in the near-field of Strombolian explosions, at 500 m distance, show pronounced effects of tilt. The tilt signal is predominant in the horizontal components beyond about 50 s period while it is negligible in the vertical component. The waveform of the tilt signal at the seismometer output is a double time integral of the waveform due to ground displacement. Since the waveform of the displacement is known from the vertical component, the waveform of the tilt signal in the horizontal seismogram can be reconstructed and both contributions can be separated from each other with a linear regression. We have analyzed data recorded in the summit region of Stromboli in 1995 and 1996. The regional tilt can be determined from the differential vertical displacement between instruments a few tens of meters apart. Local tilts determined with individual instruments scatter around the regional value, most probably due to local strain-tilt-coupling. Mogi's (1958) formulae for a pressure source in a homogeneous halfspace are used to interpret the results. The source displaces a volume of several tens of cubic meters of the surrounding rock before the explosive discharge; typical volumes were 25 m3 in July 1995 and 60 m3 in September 1996.
Explorative Teaching and Research—From Memory Work to Experience Stories  [PDF]
Karin Widerberg
Creative Education (CE) , 2016, DOI: 10.4236/ce.2016.714196
Abstract: Memory work is an approach developed to help us problematize the things we take for granted and as such an invitation to methodological explorations in teaching and research. By our own stories of memories and experiences we are invited to look for variety—in our own stories as well as in relation to the stories of the others—regarding content as well as interpretations. A set of techniques is developed to make this happen, in writing as well as in analyzing. Focusing on the social aspects of a story does not only imply a possibility to connect different analytical levels (micro and macro) and verify concepts and theories. It also allows us to question or specify fixed or simplified categories and concepts by making other memories, experiences and understandings visible. As such it is an approach that stimulates creativity and knowledge production in both teaching and research, to the joy of all participants. In this article it is illustrated how the approach can be used in different settings and on different themes in both teaching and research hereby also illuminating the kinds of knowledge that can be gained. Cases and detailed accounts of how the approach can be used when teaching a one-day workshop, a three-day course but also in a two-hour lecture in a regular class on BA-level are given. Examples of the use of the approach in different research projects are also presented so as to illuminate the bridge between research and teaching and how research approaches can be made into teaching approaches. The illustrations are meant to inspire further use and development of the approach so as to fit different situations and themes in teaching and research.
The Quaternary of the southwest German Alpine Foreland (Bodensee-Oberschwaben, Baden-Württemberg, Southwest Germany)
Dietrich Ellwanger,Ulrike Wielandt-Schuster,Matthias Franz,Theo Simon
E&G : Quaternary Science Journal , 2011, DOI: 10.3285/eg.60.2-3.07
Abstract: Das Quart r der Bodensee-Region besteht aus Schottern frühpleistoz ner alpiner Flusssysteme (Deckenschotter) sowie aus glazialen und Schmelzwasser-Ablagerungen der mittel- und sp tpleistoz nen Eiszeiten. Sie belegen den landschaftlichen Wandel von einer Art Rampe aus Vorbergen hin zur heutigen Topographie mit ineinander greifenden, übertieften Becken, sodass sich eine Art Amphitheater ergibt. Die Deckenschotter als lteste Ablagerungen dokumentieren einerseits die Eintiefung der alpinen Flüsse in diversen Terrassenstufen im Sedimentationsgebiet, andererseits durch deutliche Unterschiede im Ger llspektrum die Vergr erung des Liefergebiets des sich entwickelnden alpinen Rheins. Der lteste Till kommt vor in Kontakt mit Mindel-Deckenschottern, es gibt jedoch keine Hinweise auf eine glaziale übertiefung in dieser Zeit. Die meisten glazialen und Schmelzwasser-Ablagerungen werden drei gro en Vergletscherungen des Rheingletschers zugeordnet. Diese Vorlandvergletscherungen sind mit drei Generationen glazialer Becken verknüpft. Die ltesten Becken sind zur Donau orientiert, die aus der letzten Vereisung entw ssern zum Rhein. Diese Reorientierung bewirkte die hervorragende r umliche Aufl sung der Sedimente und Formen. Traditionell wurden die Sedimente in einem chronostratigraphischen System aus glazialen und interglazialen Stufen beschrieben. Unsere Ziele in dieser Arbeit sind, eine Aktualisierung des chronostratigraphischen Systems vorzustellen, das neue, beim geologischen Dienst von Baden-Württemberg angewandte, lithostratigraphische Schema zu erkl ren und die wichtigsten neuen Einheiten kurz zu beschreiben.
Missing the Target?—Targeted Therapy in Small Cell Lung Cancer  [PDF]
Karin R. Purshouse
Advances in Lung Cancer (ALC) , 2014, DOI: 10.4236/alc.2014.33008
Abstract:

Small cell lung cancer [SCLC] is a devastating form of cancer, with most patients harbouring extensive disease at diagnosis and survival of less than 5% at five years. Progress in novel therapies has been limited. This specialist review explores current targeted therapy options and potential areas of development.

Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí
Wielandt N,Ana María; Vollrath R,Valeska; Chianale B,José;
Revista médica de Chile , 2004, DOI: 10.4067/S0034-98872004000900006
Abstract: background: there are significant differences in drug responses among different ethnic groups. the multidrug transporter p-gp, encoded by the mdr1 gene, plays a key role in determining drug bioavailability, and an association between a polymorphism in exon 26 (c3435t) and lower p-gp expression has been found. the co-segregation of this polymorphism with the polymorphism in exon 12 (c1236t) and in exon 21 (g2677t/a) determines several mdr1 haplotypes in humans. aim: to characterize the polymorphisms of exons 26, 21 and 12 of the mdr1 gene in different chilean populations. material and methods: using a polymerase chain reaction and restriction fragment length polymorphism technique, we studied the allelic frequencies and the distribution of mdr1 haplotypes in 3 chilean populations: mestizo (n=104), mapuche (n=96, living in the national reservation of the huapi island, ranco lake) and maori (n=52, living in eastern island). results: the frequency of the normal mdr1*1 haplotype, without mutations, was lower in mapuches than in mestizos or maoris (p <0.005) but similar to that reported in asian population (p=0.739), probably due to the asian origin of the amerindian populations. in addition, the mdr1*l haplotype frequency in mestizos was similar to the frequency reported in caucasians (p=0.49), in agreement with the origin of our population, with a strong influence of caucasian genes from the spanish conquerors. the mdr1*2 haplotype distribution, with the three polymorphisms and probably lower multidrug transporter expression, was similar in the three chilean populations studied (p >0.05), but lower than the frequencies reported in caucasians or asians (p <0.05). conclusions: we found significant differences in the frequencies of genetic polymorphisms of the mdr1 gene in chilean populations, related to the ethnic origins of our ancestors (rev méd chile 2004; 132: 1061-8
Polimorfismos del gen de resistencia a múltiples drogas (MDR1) en poblaciones chilenas: mapuche, mestiza y maorí Polymorphisms of the multiple drug resistance gene (MDR1) in Mapuche, Mestizo and Maori populations in Chile
Ana María Wielandt N,Valeska Vollrath R,José Chianale B
Revista médica de Chile , 2004,
Abstract: Background: There are significant differences in drug responses among different ethnic groups. The multidrug transporter P-gp, encoded by the MDR1 gene, plays a key role in determining drug bioavailability, and an association between a polymorphism in exon 26 (C3435T) and lower P-gp expression has been found. The co-segregation of this polymorphism with the polymorphism in exon 12 (C1236T) and in exon 21 (G2677T/A) determines several MDR1 haplotypes in humans. Aim: To characterize the polymorphisms of exons 26, 21 and 12 of the MDR1 gene in different Chilean populations. Material and methods: Using a polymerase chain reaction and restriction fragment length polymorphism technique, we studied the allelic frequencies and the distribution of MDR1 haplotypes in 3 Chilean populations: Mestizo (n=104), Mapuche (n=96, living in the National Reservation of the Huapi Island, Ranco Lake) and Maori (n=52, living in Eastern Island). Results: The frequency of the normal MDR1*1 haplotype, without mutations, was lower in Mapuches than in Mestizos or Maoris (p <0.005) but similar to that reported in Asian population (p=0.739), probably due to the Asian origin of the Amerindian populations. In addition, the MDR1*l haplotype frequency in Mestizos was similar to the frequency reported in Caucasians (p=0.49), in agreement with the origin of our population, with a strong influence of Caucasian genes from the Spanish conquerors. The MDR1*2 haplotype distribution, with the three polymorphisms and probably lower multidrug transporter expression, was similar in the three Chilean populations studied (p >0.05), but lower than the frequencies reported in Caucasians or Asians (p <0.05). Conclusions: We found significant differences in the frequencies of genetic polymorphisms of the MDR1 gene in Chilean populations, related to the ethnic origins of our ancestors (Rev Méd Chile 2004; 132: 1061-8
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