Aaron Lopez papers, undated, 1752-1794, 1846, 1852, 1953.

Contains approximately 6800 manuscripts arranged chronologically by year for years 1752-1794. Approximately 100 are letters received or written by Lopez, his partner and father-in-law, Jacob Rodriguez Rivera, members of his family and company, and commercial agents pertaining to business activities and sailing orders for the captains of various ships. Several also refer to personal matters and acquaintances, including a series of six letters from Silas Cooke of White Hall (Middletown), R.I., to Aaron Lopez, asking his aid in returning a run-away slave (1776). The great majority of the collection consists of account records, bills of sale, orders, shipping agreements, lists of sailors on the various ships, repair records and cargo invoices. Of particular interest are a receipt for payment of a half-year's subscription to the "tzedakah" of Congregation Nefutzei Israel, Newport (1755) and several documents that reveal Lopez as a supplier of kosher meat and other religious articles to people in various parts of the colonies, Surinam, and Jamaica. Also included in this group are copies of sailing lists, documents pertaining to Lopez's naturalization which shed light upon the status of a Jew applying for citizenship in Massachusetts and a check to Lopez from the United States government for a loan made during the Revolutionary War (1779).

Myer S. Isaacs collection undated, 1844, 1851-1925

Contains correspondence and newspaper clippings relating to the centennial birthday celebration of and memorial services for Sir Moses Montefiore; correspondence consists primarily of replies to a circular advocating the holding of memorial services issued by the Board of Delegates on Civil and Religious Rights from congregations in Buffalo, Charleston, Chicago, Cincinnati, Cleveland, and Detroit. Contains also correspondence relating to the activities of the Alliance Israelite Universelle on behalf of Palestine and the Jews in the Balkan States and Morocco and to the establishment of United States committees for the Alliance and the raising of funds, including correspondence with H. Pereira Mendes, Henry S. Jacobs, John Hay, and Adolphe Cremieux as well as letters from Baltimore, Cleveland, Detroit, Galveston, Minneapolis, Mobile, Rochester, St. Louis, and San Francisco. Also contains extensive correspondence concerning anti-semitism in Russia, aid to Jewish immigrants, and Jewish agricultural colonies in the United States, with letters from James G. Blaine, Manuel Augustus Kursheedt, Sabato Morais, Charles Nathan, Hirsch Leib Sabsovich, (Isaac N.?) Seligman and Judah Wechsler, among others. Also contains newspaper clippings and other items relating to Jewish life during the late 19th century and articles and memorabilia about various members of the Isaacs family.

Finitary Abstract Elementary Classes

The research in model theory has extended from the study of elementary classes to non-elementary classes, i.e. to classes which are not completely axiomatizable in elementary logic. The main theme has been the attempt to generalize tools from elementary stability theory to cover more applications arising in other branches of mathematics. In this doctoral thesis we introduce finitary abstract elementary classes, a non-elementary framework of model theory. These classes are a special case of abstract elementary classes (AEC), introduced by Saharon Shelah in the 1980's. We have collected a set of properties for classes of structures, which enable us to develop a 'geometric' approach to stability theory, including an independence calculus, in a very general framework. The thesis studies AEC's with amalgamation, joint embedding, arbitrarily large models, countable Löwenheim-Skolem number and finite character. The novel idea is the property of finite character, which enables the use of a notion of a weak type instead of the usual Galois type. Notions of simplicity, superstability, Lascar strong type, primary model and U-rank are inroduced for finitary classes. A categoricity transfer result is proved for simple, tame finitary classes: categoricity in any uncountable cardinal transfers upwards and to all cardinals above the Hanf number. Unlike the previous categoricity transfer results of equal generality the theorem does not assume the categoricity cardinal being a successor. The thesis consists of three independent papers. All three papers are joint work with Tapani Hyttinen.

On Games on Non-Wellfounded Sets and Stationary Sets

In this thesis we study a few games related to non-wellfounded and stationary sets. Games have turned out to be an important tool in mathematical logic ranging from semantic games defining the truth of a sentence in a given logic to for example games on real numbers whose determinacies have important effects on the consistency of certain large cardinal assumptions. The equality of non-wellfounded sets can be determined by a so called bisimulation game already used to identify processes in theoretical computer science and possible world models for modal logic. Here we present a game to classify non-wellfounded sets according to their branching structure. We also study games on stationary sets moving back to classical wellfounded set theory. We also describe a way to approximate non-wellfounded sets with hereditarily finite wellfounded sets. The framework used to do this is domain theory. In the Banach-Mazur game, also called the ideal game, the players play a descending sequence of stationary sets and the second player tries to keep their intersection stationary. The game is connected to precipitousness of the corresponding ideal. In the pressing down game first player plays regressive functions defined on stationary sets and the second player responds with a stationary set where the function is constant trying to keep the intersection stationary. This game has applications in model theory to the determinacy of the Ehrenfeucht-Fraisse game. We show that it is consistent that these games are not equivalent.

Natural host range, thrips and seed transmission of distinct Tobacco streak virus strains in Queensland, Australia

Diseases caused by Tobacco streak virus (TSV) have resulted in significant crop losses in sunflower and mung bean crops in Australia. Two genetically distinct strains from central Queensland, TSV-parthenium and TSV-crownbeard, have been previously described. They share only 81% total-genome nucleotide sequence identity and have distinct major alternative hosts, Parthenium hysterophorus (parthenium) and Verbesina encelioides (crownbeard). We developed and used strain-specific multiplex Polymerase chain reactions (PCRs) for the three RNA segments of TSV-parthenium and TSV-crownbeard to accurately characterise the strains naturally infecting 41 hosts species. Hosts included species from 11 plant families, including 12 species endemic to Australia. Results from field surveys and inoculation tests indicate that parthenium is a poor host of TSV-crownbeard. By contrast, crownbeard was both a natural host of, and experimentally infected by TSV-parthenium but this infection combination resulted in non-viable seed. These differences appear to be an effective biological barrier that largely restricts these two TSV strains to their respective major alternative hosts. TSV-crownbeard was seed transmitted from naturally infected crownbeard at a rate of between 5% and 50% and was closely associated with the geographical distribution of crownbeard in central Queensland. TSV-parthenium and TSV-crownbeard were also seed transmitted in experimentally infected ageratum (Ageratum houstonianum) at rates of up to 40% and 27%, respectively. The related subgroup 1 ilarvirus, Ageratum latent virus, was also seed transmitted at a rate of 18% in ageratum which is its major alternative host. Thrips species Frankliniella schultzei and Microcephalothrips abdominalis were commonly found in flowers of TSV-affected crops and nearby weed hosts. Both species readily transmitted TSV-parthenium and TSV-crownbeard. The results are discussed in terms of how two genetically and biologically distinct TSV strains have similar life cycle strategies in the same environment.

An improved simulation model to predict pre-harvest aflatoxin risk in maize

Aflatoxin is a potent carcinogen produced by Aspergillus flavus, which frequently contaminates maize (Zea mays L.) in the field between 40° north and 40° south latitudes. A mechanistic model to predict risk of pre-harvest contamination could assist in management of this very harmful mycotoxin. In this study we describe an aflatoxin risk prediction model which is integrated with the Agricultural Production Systems Simulator (APSIM) modelling framework. The model computes a temperature function for A. flavus growth and aflatoxin production using a set of three cardinal temperatures determined in the laboratory using culture medium and intact grains. These cardinal temperatures were 11.5 °C as base, 32.5 °C as optimum and 42.5 °C as maximum. The model used a low (≤0.2) crop water supply to demand ratio—an index of drought during the grain filling stage to simulate maize crop's susceptibility to A. flavus growth and aflatoxin production. When this low threshold of the index was reached the model converted the temperature function into an aflatoxin risk index (ARI) to represent the risk of aflatoxin contamination. The model was applied to simulate ARI for two commercial maize hybrids, H513 and H614D, grown in five multi-location field trials in Kenya using site specific agronomy, weather and soil parameters. The observed mean aflatoxin contamination in these trials varied from <1 to 7143 ppb. ARI simulated by the model explained 99% of the variation (p ≤ 0.001) in a linear relationship with the mean observed aflatoxin contamination. The strong relationship between ARI and aflatoxin contamination suggests that the model could be applied to map risk prone areas and to monitor in-season risk for genotypes and soils parameterized for APSIM.

An improved simulation model to predict pre-harvest aflatoxin risk in maize

Aflatoxin is a potent carcinogen produced by Aspergillus flavus, which frequently contaminates maize (Zea mays L.) in the field between 40° north and 40° south latitudes. A mechanistic model to predict risk of pre-harvest contamination could assist in management of this very harmful mycotoxin. In this study we describe an aflatoxin risk prediction model which is integrated with the Agricultural Production Systems Simulator (APSIM) modelling framework. The model computes a temperature function for A. flavus growth and aflatoxin production using a set of three cardinal temperatures determined in the laboratory using culture medium and intact grains. These cardinal temperatures were 11.5 °C as base, 32.5 °C as optimum and 42.5 °C as maximum. The model used a low (≤0.2) crop water supply to demand ratio—an index of drought during the grain filling stage to simulate maize crop's susceptibility to A. flavus growth and aflatoxin production. When this low threshold of the index was reached the model converted the temperature function into an aflatoxin risk index (ARI) to represent the risk of aflatoxin contamination. The model was applied to simulate ARI for two commercial maize hybrids, H513 and H614D, grown in five multi-location field trials in Kenya using site specific agronomy, weather and soil parameters. The observed mean aflatoxin contamination in these trials varied from <1 to 7143 ppb. ARI simulated by the model explained 99% of the variation (p ≤ 0.001) in a linear relationship with the mean observed aflatoxin contamination. The strong relationship between ARI and aflatoxin contamination suggests that the model could be applied to map risk prone areas and to monitor in-season risk for genotypes and soils parameterized for APSIM.

Resolution of the board on the wearing of the tallit

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The mating system of the true fruit fly Bactrocera tryoniand its sister-species,Bactrocera neohumeralis

The frugivorous ‘true’ fruit fly, Bactrocera tryoni (Queensland fruit fly), is presumed to have a non-resourced-based lek mating system. This is largely untested, and contrary data exists to suggest Bactrocera tryoni may have a resource-based mating system focused on fruiting host plants. We tested the mating system of Bactrocera tryoni, and its close sibling Bactrocera neohumeralis, in large field cages using laboratory reared flies. We used observational experiments that allowed us to determine if: (i) mating pairs were aggregated or non-aggregated; (ii) mating system was resource or non-resource based; (iii) flies utilised possible landmarks (tall trees over short) as mate-rendezvous sites; and (iv) males called females from male-dominated leks. We recorded nearly 250 Bactrocera tryoni mating pairs across all experiments, revealing that: (i) mating pairs were aggregated; (ii) mating nearly always occurred in tall trees over short; (iii) mating was non-resource based; and (iv) that males and females arrived at the mate-rendezvous site together with no evidence that males preceded females. Bactrocera neohumeralis copulations were much more infrequent (only 30 mating pairs in total), but for those pairs there was a similar preference for tall trees and no evidence of a resource-based mating system. Some aspects of Bactrocera tryoni mating behaviour align with theoretical expectations of a lekking system, but others do not. Until evidence for unequivocal female choice can be provided (as predicted under a true lek), the mating system of Bactrocera tryoni is best described as a non-resource based, aggregation system for which we also have evidence that land-marking may be involved. This article is protected by copyright. All rights reserved

Letter to K. K. S. I. from K. K. B'nai Jeshurun, asking to borrow seforim and ornaments for the consecration of the synagogue

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Holistic Spirituality in the Thinking of Ellen White

Spiritualiteetti viittaa syvälliseen, inhimilliseen ulottuvuuteen ja ominaisuuteen, jonka tarkka määritteleminen on haasteellista, ellei mahdotonta. Sitä vastaa yhtäältä uskonnollisuuden kautta toteutuva, elämän tarkoitukseen ja syvemmän olemuksen etsintään liittyvä hengellisyys, mutta toisaalta myös kaikkea muuta hengen viljelyä ja mielekkään olemisen tavoittelua tarkoittava henkisyys. John Swintonin mukaan hengen ulottuvuus on se inhimilliseen olemukseen kuuluva, dynaaminen elinvoima, joka virkistää ja elävöittää ihmistä ja motivoi häntä etsimään Jumalaa, arvoja, merkitystä, tarkoitusta ja toivoa. Tämä tutkimus nostaa tarkastelun kohteeksi kokonaisvaltaisen hengellisyyden, jolloin huomio kiinnitetään niihin sidoksiin, joiden kautta hengen ulottuvuus liittyy muihin inhimillisen elämän olennaisiin toimintoihin ja näkökulmiin. Tällaisia ovat 1) ajattelu 2) teot ja käytännön toiminta 3) suhteet ja vuorovaikutusverkostot 4) tunteet ja kanssakäymistä ohjaavat asenteet 5) olemassaolon ja olemisen ulottuvuudet. Kokemusten merkitys, arvo ja mielekkyys hahmottuvat juuri hengen alueella, toisin sanoen sisäisesti, hengellisenä ja henkisenä asiana. Tutkimusmateriaalina tässä tutkimuksessa on amerikkalaisen vuosina 1827 1915 eläneen Ellen Whiten kuusi myöhäiskauden teosta vuosilta 1892 1905 ja tutkimusmenetelmänä on käytetty systemaattista analyysiä. Olennaista Whiten tavassa käsitellä uskonnon harjoitukseen liittyviä aiheita on hänen käytännöllinen ja elämän arkeen kiinteästi niveltyvä otteensa. Tutkimus paljastaa, että Martti Lutherin käsitykset ovat merkittävästi vaikuttaneet Whiten ajatteluun. Lähteistä paljastuu samankaltaisuutta hänen näkemystensä ja uusimman suomalaisen Luther-tutkimuksen Martti Lutherin tuotannosta esiin nostaman ajattelutavan välillä. Vaikka teologisen oppineisuuden kannalta White ja Luther ovat eri tasoilla, kummankin käsitys ihmisen ja Jumalan välisen suhteen perusolemuksesta on samankaltainen: Lähtökohtana sille on Jumalan rakkaus ja hänen armostaan lähtenyt toiminta. Toiseksi, ihmisen ja Kristuksen välinen, olemuksellinen yhteys, unio , on perustana sille, että Jumala hyväksyy ihmisen ja huolehtii hänestä nyt ja ikuisesti. Kolmanneksi, tämä ihmisen ja Kristuksen liittoutuminen ja yhdistyminen ilmenee yhteistoimintana ja kumppanuutena yhteisten tavoitteiden saavuttamiseksi maailmassa. White korostaa ihmisen ja Kristuksen välisen hengellisen suhteen vuorovaikutteista ja toiminnallista luonnetta, joka tulee ilmi epäitsekkyytenä, toisten ihmisten ja heidän tarpeittensa huomioimisena sekä myötätuntona ja kykynä asettua toisen asemaan. Terveellistä elämäntapaa ja kasvatusta koskevat ajatuksensa White liittää siihen laaja-alaiseen näkemykseen hengellisyydestä, jonka tavoitteena on ihmisen kokonaisvaltainen hyvinvointi. Hän ei näe spiritualiteettia elämän arjesta irrallisena tai erillisenä saarekkeena, vaan ihmistä kaikessa ohjaavana, voimaannuttavana ja mielekkyyttä tuottavana, ensisijaisena ulottuvuutena. Tutkimuksen kuluessa myös Whiten usein käyttämät Jumalalle antautumisen ja luonteen käsitteet nousevat tarkastelun kohteiksi. Hänen mukaansa ihminen ei tahdonponnistuksillaan yksin pysty tavoittamaan Jumalaa vaan hänen on lakattava Jumalan rakastavan kutsun edessä itse tahtomasta ja suostuttava liittymään Jumalan tahtoon ja tarkoitukseen. Tämä liittyy siihen sisäiseen muutokseen, jota White kuvaa luonteen käsitteen avulla. Jumalan armon vaikuttama tahdon uudelleen suuntaaminen muuttaa ihmisen olemusta, arvoja, asennoitumisen tapaa ja myötätuntoisen vuorovaikutuksen kykyä niin ettei ihminen ole enää aivan sama kuin ennen. Kysymys on toisaalta yhtäkkisestä ja kertakaikkisesta olemuksellisesta muuttumisesta, mutta samalla myös hiljaisesta, elämänmittaisesta kasvusta ja kypsymisestä. Juuri luonteen käsitteen avulla White kuvaa hengellisyyttä ja siihen kuuluvaa sisästä matkaa. Tässä tutkimuksessa spiritualiteettia lähestytään yleisinhimillisenä piirteenä ja ominaisuutena, jolloin huomio ei ole ensisijaisesti yksittäisissä opillisissa käsityksissä tai uskonnollisuuden harjoittamisen muodoissa. Tarkoituksena on luoda kokoava rakenne, jonka puitteissa holistinen spiritualiteetti voidaan selkeämmin hahmottaa ja yksilöidymmin ymmärtää.

Mothers, your's is a sacred work! Naiskysymys adventistijulistaja Ellen Whiten profeetallisessa terveysopetuksessa vuosina 1866 1878

Tarkastelen pro gradu -tutkielmassani naiskysymystä Seitsemännen päivän adventtikirkon oppiäiti Ellen Whiten (1827 1915) terveysopetuksessa. White tunnetaan ennen kaikkea näyistään, joiden välityksellä hän koki saavansa Jumalalta hyvinvointiin liittyviä ohjeita. White kirjoitti näkyjensä innoittama terveysoppaita ja julisti pääasiassa Yhdysvalloissa yli 70 vuotta. Päälähteenäni ovat kaksi Whiten omaelämäkertaa vuosilta 1880 ja 1915 sekä 83 artikkelia, jotka hän julkaisi adventistien johtavassa terveyslehdessä, Health Reformerissa, vuosina 1866 1878. Tutkimuskysymykseni ovat, miksi White osoitti lähes kaiken terveyteen liittyvän opetuksensa naisille ja miten hän ymmärsi terveyden osana naisen roolia ja tehtäviä. Tulkintani mukaan White julisti naisille, sillä hän uskoi, että naisen asema oli selkeytettävä. Yhdysvallat teollistui ja kaupungistui nopeasti 1800-luvulla, mikä aiheutti naisille taloudellisia, sosiaalisia ja terveyteen liittyviä ongelmia. Lisäksi toinen suuri herätys (1800 1830) synnytti keskustelua naisen roolista. Monet kirkot antoivat naisille luvan esimerkiksi saarnaamiseen, mutta Yhdysvalloissa vahvistui samaan aikaan myös käsitys naisesta kodin uskonnollisena johtajana. Ymmärrän, että Whiten mukaan ratkaisu naisen sekavaan asemaan oli terveys. Uskon, että Whiten mukaan nainen pystyi ottamaan oman paikkansa yhteiskunnassa, mikäli hän pysyi terveenä ja oppi tuntemaan terveyden periaatteet. Toisaalta White sai vaikutteita naisten yhteiskunnallisten oikeuksien puolustajilta. He ajattelivat, että vain koulutettu ja terve nainen kykeni vapautumaan avioliitosta. Toisaalta White oli naisasianaisia maltillisempi. Hän ymmärsi, että vain terve ja terveyskoulutuksen saanut nainen saattoi olla hyvä äiti. Ellen White osallistui terveysopetuksellaan keskusteluun myös naisen uskonnollisesta roolista. White oli itse kiertelevä terveyssaarnaaja. Silti hän ymmärsi, että muiden naisten kutsumus oli olla terve ja koulutettu äiti. White korosti äitien pyhyyttä luultavasti siksi, että hän pyrki turvaamaan oman auktoriteettiasemansa Adventtikirkossa. White myös luultavasti ymmärsi roolinsa ja tehtävänsä poikkeuksellisiksi ja arvosti vilpittömästi äitiyttä. Whiten mukaan äidin tehtävä oli kasvattaa terveitä ja moraalisia kansalaisia. Tehtävän arvon hän perusteli aikansa tieteellisillä teorioilla. White korosti luonnontieteilijä Charles Darwinin (1809 1882) evoluutioteorian mukaisesti, että äidin velvollisuus oli siirtää lapsilleen hyvä terveys. Käsityksensä terveyden ja moraalin suhteesta hän selitti frenologialla, jonka mukaan ihmisen elämäntavat vaikuttivat hänen luonteenpiirteisiinsä. White oli myös todennäköisesti kiinnostunut sosiaalitieteilijä Herbert Spencerin (1820 1903) ajatuksista, joiden mukaan kansalaisten kehittyessä myös yhteiskunta jalostui yhä paremmaksi. Vaikka White perusteli opetustaan modernilla tieteellä, hän oli ennen kaikkea uskonnollinen julistaja. Hän kuului 1840-luvulla herätyssaarnaaja William Millerin (1782 1849) liikkeeseen, jonka jäsenet uskoivat, että Jumala tuhoaa Yhdysvallat viimeisellä tuomiolla, mikäli kansan moraalin tila ei nopeasti kohene. Millerin liikkeen painotukset säilyivät Adventtikirkossa, joka perustettiin vuonna 1863. Siten White ymmärsi, ettei äiti ollut vastuussa vain perheensä ja kansansa maallisesta hyvinvoinnista vaan myös heidän pelastuksestaan. Whiten käsitys äidistä on mielestäni ristiriitainen. White antoi äideille paljon valtaa, mutta myös suuren vastuun. Hän korosti äitien arvokkuutta, mutta toisaalta he eivät olleet hänen mukaansa korvaamattomia. White ei myöskään huomioinut naisia, jotka eivät olleet äitejä.

Alloying gold with copper makes for a highly selective visible-light photocatalyst for the reduction of nitroaromatics to anilines

Finely control of product selectivity is an essential issue in organic chemical production. In the synthesis of functionalized anilines via reduction of the corresponding nitroarenes, the challenge is to selectively reduce only the nitro group in the presence of other reducible functional groups in nitroarene molecules at a high reaction rate. Normally, the nitroarene is reduced stepwise through a series of intermediates that remain as byproducts, increasing the aniline synthesis cost. Here we report that alloying small amounts of copper into gold nanoparticles can alter the reaction pathway of the catalytic reduction under visible-light irradiation at ambient temperature, allowing nitroaromatics to be transformed directly to anilines in a highly selective manner. The reasons for the high efficiency of the photocatalytic reduction under these comparatively benign conditions as well as the light-excited reaction mechanisms are discussed. This photocatalytic process avoids byproducts, exhibits a high reaction rate and excellent substituent tolerance, and can be used for the synthesis of many useful functionalized anilines under environmentally benign conditions. Switching of the reaction pathway simply by tailoring the bimetallic alloy NPs of the photocatalysts is effective for engineering of product chemoselectivity.

SPECT-aided diagnostics and genetic risk factors in Parkinson's disease

Hypokinesia, rigidity, tremor, and postural instability are the cardinal symptoms of Parkinson s disease (PD). Since these symptoms are not specific to PD the diagnosis may be uncertain in early PD. Etiology and pathogenesis of PD remain unclear. There is no neuroprotective therapy. Genetic findings are expected to reveal metabolic routes in PD pathogenesis and thereby eventually lead to therapeutic innovations. In this thesis, we first aimed to study the usefulness and accuracy of 123I-b-CIT SPECT in the diagnosis of PD in a consecutive clinic-based material including various movement disorders. We subsequently a genetic project to identify genetic risk factors for sporadic PD using a candidate gene approach in a case-control setting including 147 sporadic PD patients and 137 spouse controls. Dopamine transporter imaging by 123I-b-CIT SPECT could distinguish PD from essential tremor, drug-induced parkinsonism, dystonia and psychogenic parkinsonism. However, b-CIT uptake in Parkinson plus syndromes (PSP and multiple system atrophy) and dementia with Lewy bodies was not significantly different from PD. 123I-b-CIT SPECT could not reliably differentiate PD from vascular parkinsonism. 123I-b-CIT SPECT was 100% sensitive and specific in the diagnosis of PD in patients younger than 55 years but less specific in older patients, due to differential distribution of the above conditions in the younger and older age groups. 123I-b-CIT SPECT correlated with symptoms and detected bilateral nigrostriatal defect in patients whose PD was still in unilateral stage. Thus, in addition to as a differential diagnostic aid, 123I-b-CIT SPECT may be used to detect PD early, even pre-symptomatically in at-risk individuals. 123I-b-CIT SPECT was used to aid in the collection of patients to the genetic studies. In the genetic part of this thesis we found an association between PD and a polymorphic CAG-repeat in POLG1 gene encoding the catalytic subunit of mitochondrial polymerase gamma. The CAG-repeat encodes a polyglutamine tract (polyQ), the two most common lengths of which are 10Q (86-90%) and 11Q. In our Finnish material, the rarer non-10Q or non-11Q length variants (6Q-9Q, 12Q-14Q, 4R+9Q) were more frequent in patients than in spouse controls (10% vs. 3.5 %, p=0.003), or population controls (p=0.001). Therefore, we performed a replication study in 652 North American PD patients and 292 controls. Non-10/11Q alleles were more common in the US PD patients compared to the controls but the difference did not reach statistical significance (p=0.07). This larger data suggested our original definition of variant length allele might need reconsideration. Most previous studies on phenotypic effects of POLG1 polyQ have defined 10Q as the only normal allele. Non-10Q alleles were significantly more common in patients compared to the controls (17.3% vs. 12.3 %, p= 0.005). This association between non-10Q length variants and PD remained significant when compared to a larger set of 1541 literature controls (p=0.00005). In conclusion, POLG1 polyQ alleles other than 10Q may predispose to PD. We did not find association between PD and parkin or DJ-1, genes underlying autosomal recessive parkinsonism. The functional Val158Met polymorphism, which affects the catalytic effect of COMT enzyme, and another coding polymorphism in COMT were not associated with PD in our patient material. The APOE e2/3/4 polymorphism modifies risk for Alzheimer s disease and prognosis of for example brain trauma. APOE promoter and enhancer polymorphisms 219G/T and +113G/C, and APOE e3 haplotypes, have also been shown to modify the risk of Alzheimer s disease but not reported in PD. No association was found between PD and APOE e2/3/4 polymorphism, the promoter or enhancer polymorphisms, or the e3 haplotypes.

Shwachman-Diamond syndrome : Clinical, genetic and radiological study

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder in which the cardinal symptoms arise from exocrine pancreatic insufficiency and bone marrow dysfunction. Previous studies have suggested increased risk of fatal complications among Finnish SDS infants. The genetic defect responsible for the disease was recently identified; the SBDS gene is located at chromosome 7q11 and encodes a protein that is involved in ribosome biosynthesis. The discovery of the SBDS gene has opened new insights into the pathogenesis of this multi-organ disease. This study aimed to assess phenotypic and genotypic features of Finnish patients with SDS. Seventeen Finnish patients with a clinical diagnosis of SDS were included in the study cohort. Extensive clinical, biochemical and imaging assessments were performed to elucidate the phenotypic features, and the findings were correlated with the SBDS genotype. Imaging studies included abdominal magnetic reso-nance imaging (MRI), brain MRI, cardiac echocardiography including tissue Doppler examination, and cardiac MRI. The skeletal phenotype was assessed by dual-energy X-ray absorptiometry and bone histomorphometry. Twelve patients had mutations in the SBDS gene. In MRI, a characteristic pattern of fat-replaced pancreas with occasional enhancement of scattered parenchymal foci and of pancreatic duct was noted in the SBDS mutation-positive patients while the mutation-negative patients did not have pancreatic fat accumulation. The patients with SBDS mutations had significantly reduced bone mineral density associated with low-energy peripheral fractures and vertebral compression fractures. Bone histomorphometry confirmed low-turnover osteoporosis. The patients with SBDS mutations had learning difficulties and smaller head size and brain volume than control subjects. Corpus callosum, cerebellar vermis, and pos-terior fossa structures were significantly smaller in SDS patients than in controls. Patients with SDS did not have evidence of clinical heart disease or myocardial fibrosis. However, subtle diastolic changes in the right ventricle and exercise-induced changes in the left ventricle contractile reserve were observed. This study expanded the phenotypic features of SDS to include primary low-turnover osteoporosis and structural alterations in the brain. Pancreatic MRI showed characteristic changes in the SBDS mutation-positive patients while these were absent in the mutation-negative patients, suggesting that MRI can be used to differentiate patients harbouring SBDS mutations from those without mutations. No evidence for clinical cardiac manifestations was found, but imaging studies revealed slightly altered myocardial function that may have clinical implications. These findings confirm the pleiotropic nature of SDS and underscore the importance of careful multidisciplinary follow-up of the affected individuals.