Análise de haplótipos intragênicos ao gene MJD1 em pacientes com doença de Machado-Joseph

A doença de Machado-Joseph (DMJ), ou ataxia espinocerebelar tipo 3 (SCA3), é uma desordem neurodegenerativa autossômica dominante, originalmente descrita em famílias de ancestralidade portuguesa-açoriana. Incordenação generalizada da marcha, dos membros e da fala podem estar presentes nos pacientes afetados por essa doença. O início das manifestações clínicas ocorre, em geral, entre os 30 e os 40 anos, apresentando uma progressão bastante lenta. O tempo médio de sobrevida depois do início da doença é de 14 a 17 anos. O gene associado à doença, denominado MJD1, foi identificado em 1994 e localiza-se no cromossomo 14. Este gene se caracteriza por apresentar uma repetição nucleotídica CAG na região 5` do exon 2. O número destas repetições é polimórfico na população, sendo que indivíduos normais apresentam de 12 a 37 repetições CAG, enquanto os afetados pela DMJ podem apresentar de 61 a 84 repetições. Um recente estudo mundial de haplótipos demonstrou a presença de dois diferentes haplótipos em famílias de origem açoriana, que são específicos à ilha de origem. Em famílias da porção continental de Portugal, os dois haplótipos foram encontrados. A maioria das famílias não portuguesas também compartilha o mesmo haplótipo encontrado em famílias originárias da ilha de Flores, mas três outros haplótipos foram encontrados nessas famílias. Até o momento, a hipótese mais forte declara que a difusão da mutação original está diretamente ligada à imigração portuguesa-açoriana No presente estudo, esta hipótese foi testada através da análise de disequilíbrio de ligação de três polimorfismos intragênicos (A669TG/C669TG, C987GG/G987GG, TAA1118/TAC1118). O polimorfismo na posição 669 foi identificado por PCR seguido de SSCP e confirmado por sequenciamento direto. Os polimorfismos nas posições 987 e 1118 foram detectados por PCR alelo-específico. Os resultados obtidos indicaram que o haplótipo intragênico A-C-A estava associado ao alelo com a expansão na maioria dos pacientes (92%). Estes resultados confirmam achados em outros estudos. Isto indica que uma única mutação na DMJ foi introduzida em várias populações, seguida de um efeito fundador local, e indicando também que provavelmente esta mutação é muito antiga. E, para finalizar, baseado neste estudo e comparando com dados gerados no estudo mundial de haplótipos, pode-se especular que a origem da mutação associada a DMJ nos pacientes do sul do Brasil é proveniente da ilha de Flores.

Na 1 Nachlass Max Horkheimer, 103 - Korrespondenzen u.a. mit Maria Pattermann und Franz Neumann (p. III 11, 1-335)

1 Drucksache der Rechtsanwaltskanzlei Pacht, Tannenbaum & Ross, 1951; 2 Briefe zwischen der Pädagogischen Hauptstelle der Gewerkschaft Erziehung u. Wissenschaft und Max Horkheimer, 1954; 1 Brief vom Pädagogischen Verlag B. Schulz an Max Horkheimer, 1950; 3 Briefe zwischen dem Professor Erwin Walter Palm und Max Horkheimer, 1957-1958; 2 Briefe zwischen Helena Brans und Max Horkheimer, 1953; 2 Briefe vom Park-Hotel Frankfurt an Max Horkheimer,1957-1958; 1 Brief von Enno Patalas an Max Horkheimer, 1 Brief von Theodor W. Adorno an Enno Patalas, 1956; 2 Briefe zwischen Dieter Pätzold und Max Horkheimer, 1952; 8 Briefe zwischen Maria Pattermann und Max Horkheimer, 1952-1958; 2 Briefe zwischen F. Perrot und Max Horkheimer, 1953; 2 Briefe zwischen der Buchhandlung Werner Peter und Max Horkheimer, 1954; 3 Briefe zwischen Alfred Peters und Max Horkheimer, 1952-1953; 1 Zeugnis von dem Studenten Joachim Peter, 1953; 1 Brief von Max Horkheimer an F.H. Peterson, 1950; Briefwechsel zwischen dem Studenten Klaus Peuker und Max Horkheimer, 1951; 1 Brief des Chefredakteuren Karl Pfannkuch an Max Horkheimer, 1955; 1 Brief von Dr. Karl Pfauter an Max Horkheimer, 1952; Briefwechsel zwischen der Studentin Renate Pflaume und Max Horkheimer, 1952; Briefwechsel zwischen Joseph B. Phillips und Max Horkheimer, 1955; 1 Brief von Professor Josef Pieper an Max Horkheimer , 1951; 1 Brief von Ehrenfried Pihan an Max Horkheimer, 1953; 1 Brief von F. G. Pincus an Theodor W. Adorno, 1954; Briefwechsel zwischen dem Professor Koppel S. Pinson und Max Horkheimer, 1956; 2 Briefe zwischen dem Professor Kurt Pinthus und Max Horkheimer, 1953; 1 Brief an Dr. Knut Pipping von Max Horkheimer, 1950; 2 Briefe zwischen Erwin Piscator und Max Horkheimer, 1954; Briefwechsel zwischen der Max-Planck-Gesellschaft zur Förderung der Wissenschaften und Max Horkheimer, 1953-1955; Briefwechsel zwischen dem Professor Richard Plant und Max Horkheimer, 1953 und 2 Briefe zwischen Professor Richard Plant und Margarete Feretty-Füredi, 1953; Briefwechsel zwischen dem Professor Johann Plenge und Max Horkheimer, 1951-1952; Briefwechsel zwischen Barbara Pleyer und Max Horkheimer, 1954; 1 Brief von Erich Paul Pechmann an Max Horkheimer, 1952; Briefwechsel zwischen Dr. Gerhard Poetzsch und an Max Horkheimer, 1958; Briefwechsel zwischen dem Committee on Science & Freedom und Max Horkheimer, 1955-1956; 1 Brief an den Professor Rudolf Pohl von Max Horkheimer, 1953; 1 Brief von der Zeitschrift "Die politsche Meinung" an Max Horkheimer, 1956; 1 Brief von Max F. Pollack an Max Horkheimer, 1954; 1 Brief von dem Professor Wilhelm Polligkeit an Max Horkheimer, 1951; 1 Brief von dem Poli-Verlag an Max Horkheimer, 1950; Briefwechsel zwischen Alexej Poremsky und Max Horkheimer, 1955; 1 Brief von Rita Post an Max Horkheimer, 1952; 1 Brief von Max Potzin an Max Horkheimer, 1951; Briefwechsel zwischen dem Oberstudienrat Max Preitz und Max Horkheimer, 1955; 1 Brief von dem Professor Wolfgang Preiser an Max Horkheimer, 1952; 1 Gutachten und Beilagen von Dr. Karl A. Preuschen an Max Horkheimer, 1955; Briefwechsel und Beilagen zwischen dem Direktor des The Commonwealth Fund E. K. Wickman und Max Horkheimer, 1955; Briefwechsel zwischen Klaus H. Pringsheim und Max Horkheimer, 1952-1958; 1 Brief von Curt Freiherr von Preuschen an Max Horkheimer, 1953; Briefwechsel zwischen Rüdiger Proske und Max Horkheimer, 1951; Briefwechsel und Beilagen zwischen Dr. Harry Pross und Max Horkheimer, 1954; 1 Brief von dem Professor Franz Neumann an Max Horkheimer, 1954; 1 Brief an G. H. Graber von Max Horkheimer, 1953; Briefwechsel zwischen dem Quaker Service und Max Horkheimer, 1950; Briefwechsel zwischn Günther Quandt und Max Horkheimer, 1953 und 2 Todesanzeigen, 1955; 1 Brief an den Querido-Verlag von Max Horkheimer, 1951; Briefwechsel zwischen Emil Querinjean und Max Horkheimer, 1955; Briefwechsel zwischen John Raatjes und Max Horkheimer, 1956; Briefwechsel zwischen der Zeitschrift the humanist radical und Max Horkheimer, 1957; Briefwechsel zwischen Sitangghu Chatterji und Max Horkheimer, 1957; 1 Brief von der Radio Corporation of America an Max Horkheimer, 1953; 1 Brief und Beilagen vom Radiodiffusion et Télévision Francaises an Max Horkheimer, 1955; Briefwechsel zwischen dem Österreichischer Rundfunk Radio Wien und Max Horkheimer, 1956; 1 Brief von dem Professor Boris Rajewsky an Max Horkheimer, 1953; 1 Brief an Else Rang von Max Horkheimer, 1950; Briefwechsel zwischen Heinz Raspini und Max Horkheimer, 1956; 1 Drucksache zwischen Hanna Becker vom Rath und Max Horkheimer, 1953; 1 Telegramm von dem Professor Roland Rather an Max Horkheimer und 2 Briefe von Max Horkheimer an Roland Rather, 1957; Briefwechsel zwischen dem Professor L. J. Rather und Max Horkheimer, 1955; Briefwechsel zwischen Phillip Roth und Max Horkheimer, 1958; Briefwechsel zwischen Sibnarayan Ray und Max Horkheimer, 1956-1957; Briefwechsel mit Beilagen zwischen dem Rationalisierungs-Kuratorium der Deutschen Wirtschaft und Max Horkheimer, 1954; 1 Aktennotiz von dem Jornalisten Rasten der dänischen Zeitung Politiken, 1953; Briefwechsel zwischen Wolfgang M. Rauch und Max Horkheimer, 1956; 1 Anzeige der Ingeborg Rauter, 1953; 1 Brief von dem Hotel Reber au lac an Max Horkheimer, 1955; Briefwechsel zwischen Alice Reboly und Max Horkheimer, 1955; 3 Briefe an die Regensburger Zeitungen von Max Horkheimer, 1956; 1 Brief an den Professor Klaus Reich von Max Horkheimer, 1950; Briefwechsel zwischen dem Reinhardt, Ernst, Verlag und Max Horkheimer, 1953; 1 Brief von dem Apotheker Hermann Reitberger an Max Horkheimer, 1955; Briefwechsel zwischen Dr. Paul Reiwald und Max Horkheimer, 1950; 1 Brief von dem Journalist Godo Remszhardt an Max Horkheimer, 1954; Briefwechsel zwischen Dr. Irmgard Rexroth-Kern und Max Horkheimer, 1952; Briefwechsel zwischen Hans Rheinbay und Max Horkheimer, 1955; 1 Brief von der Universität Bonn an Max Horkheimer, 1953; 1 Brief an den Rheinischer Merkur von Max Horkheimer, 1951; 1 Brief an die Rheinische Post von Max Horkheimer, 1954; 1 Brief an Hans Richter von Max Horkheimer, 1954; Briefwechsel zwischen Dr. Hermann Riefstahl und Max Horkheimer, 1957; Briefwechsel zwischen dem Professor Svend Riemer und Max Horkheimer, 1957; Briefwechsel zwischen dem Ring-Verlag und Max Horkheimer, 1957; Briefwechsel zwischen Werner Rings und Max Horkheimer, 1954; Briefwechsel zwischen Martha Ritter-Raabe und Max Horkheimer, 1955; Briefwechsel zwischen Otto-Heinz Rocholl und Max Horkheimer, 1954; 1 Brief von Hilde Rodemann an Max Horkheimer, 1952; 1 Brief von Edouard Roditi an Max Horkheimer, 1951 und 1 Brief von Theodor W. Adorno an Edouard Roditi, 1951; Briefwechsel zwischen der Zeitschrift Studenten-Kurier und Max Horkheimer, 1955; 1 Brief von Karl Roeloffs an Max Horkheimer, 1953; Briefwechsel zwischen der Kunsthistorikerin Hanna Rhode und Max Horkheimer, 1950-1951; 1 Brief an Dr. Anna Ronge von Max Horkheimer, 1954; 2 Brief an Kathe Romney von Max Horkheimer, 1952-1955; Briefwechsel zwischen Dr. Paul Rompel und Max Horkheimer, 1952; 1 Brief an den Zahnartz Dr. Ingo Ropper von Max Horkheimer, 1953; Briefwechsel zwischen Ilse Wallis Ross und Max Horkheimer, 1955-1956; 1 Brief von dem Professor Hans W. Rosenhaupt an Max Horkheimer, 1952; 1 Brief von Rosenthal an Max Horkheimer, 1958; Briefwechsel zwischen dem Generalstaatsanwalt und Staatssekretär Erich Rosenthal-Pelldram und Max Horkheimer, 1952-1956; Briefwechsel zwischen Lessing J. Rosenwald und Max Horkheimer, 1950; Briefwechsel zwischen dem Lieutenant Dr. Alan O. Ross und Max Horkheimer, 1955; 4 Briefe und Beilagen von Günther Roth an Max Horkheimer, 1953-1957; Briefwechsel zwischen dem Professor Wolfram Eberhardt und Max Horkheimer, 1955; 1 Brief an den Professor M. A. Stewart von Theodor W. Adorno, 1955; Briefwechsel zwischen dem Professor Rheinhard Bendix und Max Horkheimer, 1955; Briefwechsel zwischen der Studentin Valentine Rothe und Max Horkheimer, 1957; 1 Brief von dem Student Rudolf Rothrock an Max Horkheimer, 1953; 1 Brief von Guy Roustang an Max Horkheimer, ohne Jahr; 1 Brief von Heinz Maria Ledig-Rowohlt an Max Horkheimer, 1950; Briefwechsel zwischen Ellen Roy und Max Horkheimer, 1956; Briefwechsel zwischen dem Professor Paul Royen und Max Horkheimer, 1954; Briefwechsel zwischen dem Staatsminister August Rucker und Max Horkheimer, 1955-1957 1 Brief an den Staatsminister August Rucker von Leopold von Wiese, 1955; 1 Bericht von Walter Rüegg, 1953 und 2 Briefe von Max Horkheimer an den Professor Walter Rüegg, 1955; 3 Briefe an den Professor Alexander Rüstow von Max Horkheimer, 1953-1958; Briefwechsel zwischen Käthe von Ruckteschell und Max Horkheimer, 1951-1954; Briefwechsel zwischen dem Student Gerhard Rudolph und Max Horkheimer, 1954; 1 Brief von der Ruf und Echo, Arbeitsgemeischaft an Max Horkheimer, 1952; 3 Briefe an den Professor Jay Rumney von Max Horkheimer, 1952-1954; Briefwechsel zwischen Clarence R. Rungee und Max Horkheimer, 1951-1952;

Mesopelagic fish abundance and particle size spectrum analysis from Maria S. Merian cruise MSM26, spring 2013

One of the goals of EU BASIN is to understand variability in production across the Atlantic and the impact of this variability on higher trophic levels. One aspect of these investigations is to examine the biomes defined by Longhurst (2007). These biomes are largely based on productivity measured with remote sensing. During MSM 26, mesopelagic fish and size-spectrum data were collected to test the biome classifications of the north Atlantic. In most marine systems, the size-spectrum is a decay function with more, smaller organisms and fewer larger organisms. The intercept of the size-spectrum has been linked to overall productivity while the slope represents the "rate of decay" of this productivity (Zhou 2006, doi:10.1093/plankt/fbi119). A Laser In-Situ Scattering Transmissometer was used to collect size-spectrum data and net collections were made to capture mesopelagic fish. The relationship among the mesopelagic fish size and abundance distributions will be compared to the estimates of production from the size-spectrum data to evaluate the biomes of the stations occupied during MSM 26.

Mesopelagic fish collected during Maria S. Merian cruise MSM26, spring 2013

Mesopelagic fish were collected using a 1 m**2 Double-MOCNESS (Multiple Opening and Closing Net and Environmental Sensing System) and 4.5 m**2 IKMT (Isaacs-Kidd midwater trawl). The main portion of the IKMT was 20 mm knotted nylon, and the tail bag was 3 mm knotless nylon. Oblique IKMT tows were made to a maximum depth of 500 m at a tow speed of 3.5 knots. The original cruise plan intended for nighttime IKMT tows, but tow times varied due to operational constraints. The MOCNESS was equipped with 20 nets of 333 µm mesh size; 10 nets per side. The towing speed was 2 knots. Samples were collected to a maximum depth of 1250 m. The first oblique nets sampled from the surface to the max depth, and the other nets sampled depth stratified bins of the water column. MOCNESS hauls were performed during day and night to investigate diel vertical migrations. Mesoplelagic fish were processed on board. All fish were picked from all IKMT nets, most oblique MOCNESS nets, and the left side nets of the depth stratified MOCNESS samples. The Depth stratified nets from the right side of the MOCNESS frame were preserved in 5 % formalin for future quantitative analyses of the nekton. Fish were identified to the lowest possible taxa using Whitehead et al. (1984) and Fahay (2007). Standard length of each fish was measured to the nearest 0.1 mm using a digital caliper. Measured and identified fish were frozen in an -80 °C freezer, and shipped to the University of Hamburg at the end of the cruise.

Particle size spectrum analysis during Maria S. Merian cruise MSM26, spring 2013

A Laser In-Situ Scattering Transmissometer (LISST) was used to collect vertical distribution data of particles from 2.5 to 500 µm in size. The LISST uses a multi-ring detector to measure scattering light of particles from a laser diode. Particles are classified into 32 log-spaced bins and the concentration of each bin is calculated as micro-liters per liter (µl/l). The instrument is rated to a depth of 300 m, and also records temperature and pressure. The sample interval was set to record every second. The LISST was attached to the LOPC frame to conduct casts and allow for particle-size comparisons between the two instruments. The LOPC is rated to a depth of 2000 m, thus a short deployment to a depth of 300 m was first conducted with both instruments. The instruments were then returned to the deck and the LISST removed via a quick release bracket so deep LOPC casts could be continued at a station. Raw LISST size-spectrum data is presented as concentrations for each of the 32 size bins for every second of the cast.

Abundance mesopelagic fish collected during Maria S. Merian cruise MSM26, spring 2013

Mesopelagic fish were collected using a 1 m**2 Double-MOCNESS (Multiple Opening and Closing Net and Environmental Sensing System) and 4.5 m**2 IKMT (Isaacs-Kidd midwater trawl). The main portion of the IKMT was 20 mm knotted nylon, and the tail bag was 3 mm knotless nylon. Oblique IKMT tows were made to a maximum depth of 500 m at a tow speed of 3.5 knots. The original cruise plan intended for nighttime IKMT tows, but tow times varied due to operational constraints. The MOCNESS was equipped with 20 nets of 333 µm mesh size; 10 nets per side. The towing speed was 2 knots. Samples were collected to a maximum depth of 1250 m. The first oblique nets sampled from the surface to the max depth, and the other nets sampled depth stratified bins of the water column. MOCNESS hauls were performed during day and night to investigate diel vertical migrations. Mesoplelagic fish were processed on board. All fish were picked from all IKMT nets, most oblique MOCNESS nets, and the left side nets of the depth stratified MOCNESS samples. The Depth stratified nets from the right side of the MOCNESS frame were preserved in 5 % formalin for future quantitative analyses of the nekton. Fish were identified to the lowest possible taxa using Whitehead et al. (1984) and Fahay (2007). Standard length of each fish was measured to the nearest 0.1 mm using a digital caliper. Measured and identified fish were frozen in an -80 °C freezer, and shipped to the University of Hamburg at the end of the cruise.

Alegato juridico por... Joseph Martinez Blesa, presbytero, beneficiado en la iglesia Parroquial de San Juan del Mercado... sobre que se deve conceder... el amparo de possession de dicho beneficio, y mandar restituir à don Geronymo Monsoriu...

Fecha : "Valencia, y Junio 21 de 1724" tomada de final de texto

Compendio historico del Real Convento de Santa Maria Magdalena, de religiosas del Gran Patriarca Santo Domingo de la ciudad de Valencia ...

Contiene: Descripcion Breve de la solemne fiesta con que el ... Convento de Santa Maria Madalena ... de la ciudad de Valencia, solemnizò la exaltacion de ... Benedicto XIII a la Apostolica Silla ; Oracion panegyrica que en la ... de la ciudad de Valencia .../ dixo ... Bartholome Cases ...