Nekonvencionalno niječno slaganje: ni u hrvatskom, španjolskom i francuskom

This paper explores the interaction between connective negation (‘neither ... nor’) and negative concord, an issue that has not received much attention. It looks at different ‘negative concord’ languages, viz. Croatian, Spanish, and French. The approach is synchronic; the data come from existing descriptions and from native speaker judgments. The paper describes the many idiosyncrasies but also lays bare some of the similarities.U ovom radu razmatra se međudjelovanje vezivne negacije (poput primjerice ‘neither ... nor’ u engleskom jeziku) i niječnog slaganja, što je pitanje koje dosad u literaturi nije bilo dovoljno obrađeno. Promatraju se neki jezici u kojima se provodi niječno slaganje, točnije hrvatski, španjolski i francuski. Spomenuta se pojava promatra iz sinkronijske perspektive, a podaci su prikupljeni iz postojećih opisa i temelje se na prosudbama izvornih govornika. U radu su opisane brojne idiosinkratičnosti niječnog slaganja u tri promatrana jezika, ali se ukazuje i na neke međusobne sličnosti

Negatives between Chamic and Bahnaric

The paper deals with the verb embracing double negation found in both Chamic and Bahnaric languages and with the question how it developed. We propose both an internal and external explanation. The former relates to what is called a ‘Jespersen Cycle’, a hypothesis about the renewal of single negation out of double negation, itself developing out of another single negation. The latter is language interference from Chamic to Bahnaric. We argue that the Jespersen Cycle hypothesis is more plausible for Chamic, thus revisiting Lee (1996), and that the language contact hypothesis makes more sense for Bahnaric, thus supporting a more general hypothesis about the direction of interference between the two families (Sidwell 2008: 261, 265)

Mapping indefinites: towards a Neo-Aristotelian map

The semantic map that Haspelmath (1997) offered for indefinite pronouns is highly valuable, but it is problematic and too simple about the relation between the meaning of the indefinite pronoun itself, its context, and the resulting meaning-in-context. As a representation of the meaning-in-context, it is claimed that one should go back to the Square of Oppositions, more particularly, to a three layered ‘Neo-Aristotelian’ representation of this square

That COMP-fusions

Proceedings of the Tenth Annual Meeting of the Berkeley Linguistics Society (1984), pp. 660-67

Connective negation and negative concord in Balto-Slavic

With negative indefinite pronouns the Balto-Slavic languages all exhibit strict negative concord. In this study we investigate how negative concord functions in a context in which a connective negator (‘neither ... nor’) combines either phrases or clauses. We show that there are various types of non-concordant patterns

Negation and perfective vs. imperfective aspect

Peer reviewe

Körperproportionen der Leistungsstärkstenjuniorenruderer im bezug auf Wettkampfniveau,den Stil des Ruderns und die Bootsgattung

The performance of elite rowers is, beside others, determined by their physical characteristics. Anthropometric data for adult rowers emphasise the importance of body mass and body size for rowing performance. Little is known concerning the importance of proportional length development. At the 1997 World Junior Rowing Championships anthropometric measurements (body mass and 6 length dimensions) were performed on 383 elite male junior rowers. Based on these measurements several proportional length dimensions were calculated. Data on boat type were obtained by questionnaire and data on competition level were based on the results obtained during the championship. The results indicate that these rowers were heavier (Mean = 82.2±7.4 kg) and taller (Mean = 187.4±5.8 cm) and had a larger sitting height (Mean=96.8±3.2 cm) and longer legs (Mean= 90.7±3.8 cm) than a reference population. Finalists had significantly larger length dimensions than non-finalists and sweep rowers had in general larger length dimensions than scullers. No differences existed when the length dimensions were expressed proportional to the stature of the rowers. It can be concluded that elite junior rowers have larger length dimensions compared to less successful rowers, but these top athletes do not differentiate from the sub-elite athletes regarding proportional length development. Differences could be observed between sweep rowers and scullers with larger length dimensions in favour of sweep rowers.Uvod Natjecateljska uspješnost vrhunskih veslača određena je, između ostaloga, i njihovim tjelesnim karakteristikama. S biološkog stajališta možemo kod sportaša olimpijske i svjetske razine kvalitete očekivati optimalnu ekspresiju utjecaja nasljeđa, sportske pripreme, prehrane i socio-kulturnih faktora. Ispitivanje obilježja tih sportaša može pomoći kineziolozima, znanstvenicima i trenerima, u razumijevanju vrhunskog sportskog uspjeha time što im pruža informacije korisne za oblikovanje strategija za objašnjenje i predviđanje sportskih rezultata. U prošlosti su se antropometrijske studije bavile uglavnom veslačima seniorima, a manje juniorima. Te antropometrijske studije naglašavaju važnost tjelesne mase i veličine tijela za uspješnost u veslanju. Smatra se da osobitu prednost veslačima donose duži udovi zbog toga što su to duže poluge i što omogućuju veću radnu snagu. Duge noge pojačavaju potisnu fazu (provlak) veslačkog zaveslaja. Štoviše, veći veslači imaju veći presjek mišića i veći apsolutni energetski kapacitet. Proučavanje longitudinalnih dimenzija do sada je bilo uglavnom ograničeno na varijablu “visina tijela ili stas”. Samo je nekoliko studija o proporcijama longitudinalnih dimenzija vrhunskih veslača, pa se malo zna o važnosti longitudinalnih proporcija tijela veslača. Cilj je ove studije bio trostruk: (1) opisati razvojne proporcijske longitudinalne dimenzije juniora veslača u usporedbi s flamanskim mladićima, (2) usporediti tjelesne proporcije veslača prema različitim kvalitetnim natjecateljskim razinama, načinu veslanja i kategorijama čamca i (3) ustanoviti model antropometrijskog profila za veslače juniore. Metode Uzorak ispitanika činila su 383 veslača juniora, u dobi od 17,8 ± 0,7 godina, raspon godina od 15,1 do 18,6. Ispitanici su nastupili na FISA svjetskom ju-niorskom veslačkom prvenstvu 1997 godine. Istraživanjem je obuhvaćeno 90% sudionika (bez kormilara), od toga 83% pobjednika i osvajača meda-lja te 89% finalista. Svi su trenirali 7-10 puta tjedno (10-15 sati). Potpuni opis uzorka i mjerenja može se naći u članku Bourgois i suradnici (1998). Za ovaj članak upotrijebljene su sljedeće tjelesne dimenzije: tjelesna visina, sjedeća visina, duljina nadlaktice, duljina podlaktice, duljina šake i duljina potkoljenice. Mjerenja su provedena u standardnim uvjetima prema postupcima koje su opisali Claessens i suradnici (1998). Na temelju tih mjera izračunate su proporcijske longitudinalne dimenzije. Pregled varijabli prikazan je u tablici 1. Podaci o vrsti čamca prikupljeni su upitnikom, a podaci o kvalitetnoj razini temeljili su se na rezultatima postignutima na prvenstvu. Međunarodna juniorska veslačka natjecanja standardizirana su na stazi od 2 000 m i podijeljena su u discipline veslanja jednim veslom (rimen) i veslanja na pariće (skul). Te se veslačke tehnike međusobno dosta razlikuju – veslač u čamcu rimen, dakle, vesla samo jednim veslom, dok skuleri koriste dva kraća vesla koja povlače istodobno. Izračunati su parametri deskriptivne statistike (aritmetička sredina, standardna devijacija i raspon) za sve varijable i za ukupni uzorak veslača. Za usporedbu proporcijskih odnosa između rimen veslača i skul veslača te finalista i onih koji se nisu plasirali u finale upotrijebljen je Studentov t-test za nezavisne uzorke. Analiza varijance (ANOVA) i post-hoc Tukeyjev test primijenjeni su da bi se otkrile razlike u proporcionalnosti među veslačima u raznim vrstama čamaca. Za statističke analize korišten je računalni program Statistical Analysis System. Svi su testovi bili dvostruki, a značajnom se smatrala razlika na razini od p<0.05. Rezultati Deskriptivna statistika prikazana je u tablici 3. U tablici su uspoređene proporcije veslača u rimenu i skulu. Rimen veslači bili su značajno viši i teži od skulera. Kada su se longitudinalne dimenzije dovele u proporcijski odnos prema tjelesnoj visini, nisu primijećene značajne razlike između te dvije vrste veslača. Slični su se rezultati dobili i u usporedbi finalista i ne-finalista (tablica 5). Prema rezultatima analize varijance (tablica 6) razlike između dva stila veslanja (rimen nasuprot skul) nađene su između dvojca sa (2+) i četverca sa (4+), s jedne strane, te samca (1x), četverca na pariće (4x) i dvojca bez (2-), s druge strane. Sportaši koji veslaju u dvojcu sa (2+) i četvercu sa (4+) bili su, u prosjeku, teži i viši od veslača u samcu (1x), četvercu na pariće (4x) i dvojcu bez (2-). Nisu dobivene razlike u proporcijskim odnosima longitudinalnih dimenzija prema vrsti čamaca. U tablici 7 predstavljen je model profila proporcijskih odnosa longitudinalnih dimenzija za veslače juniore koji su nastupili na FISA svjetskom juniorskom veslačkom prvenstvu. Rasprava i zaključak Rezultati pokazuju da su promatrani veslači teži i viši te da imaju veću sjedeću visinu i duže noge od opće populacije. Finalisti su imali značajno veće longitudinalne dimenzije od ne-finalista, a rimen veslači su općenito imali veće longitudinalne dimenzije od skulera. Nisu, međutim, dobivene razlike kada su longitudinalne dimenzije postavljene u proporcijski odnos prema tjelesnoj visini. Veslanje je sport izdržljivosti i longitudinalne dimenzije su nedvojbeno povezane s uspješnošću. Duge noge pojačavaju potisak u fazi provlaka tijekom veslačkog zaveslaja, što znači da su veslači s dugim nogama u biomehaničkoj prednosti. Usporedba tjelesnih proporcija izmjerenih veslača juniora s vrijednostima o kojima su izvijestili drugi autori (Carter i dr., 1982; Rodriguez, 1986) otkriva da veslači juniori imaju manju sjedeću visinu u odnosu na ukupnu tjelesnu visinu ili stas (Valoisov indeks) (51,6%) i veću duljinu nogu u odnosu na stas (48,4%) od normativne usporedne skupine (Ostyn i dr., 1980) (52,1% i 47,9%) i od teških olimpijskih veslača (Carter i dr, 1982) (52,1% i 47,.9%). Nisu dobivene razlike između veslača juniora i vrhunskih lakih veslača (51,5% i 48,5%). Može se zaključiti da su kvalitetniji veslači uglavnom viši i, povezano s tom razlikom, imaju veće longitudinalne dimenzije od manje uspješnih veslača, ali se oni ne razlikuju međusobno kada se te vrijednosti izraze proporcionalno u odnosu na njihovu tjelesnu visinu. Uočene su razlike između rimen veslača i skul veslača – rimen veslači su višega stasa i imaju veće apsolutne vrijednosti longitudinalnih dimenzija. Uz to što je izrađen profil veslača juniora, rezultati ove studije mogu pomoći trenerima i kineziolozima da steknu bolji uvid u to koje su morfološke karakteristike povezane s uspješnošću u veslanju. Rezultati se također mogu primijeniti za određenje antropometrijskog profila veslača i kao instrument za selekciju dječaka talentiranih za veslanje.Die Leistung der leistungsstärksten Ruderer ist unter anderem von ihren körperlichen Eigenschaften bestimmt. Körperbaudaten für erwachsene Ruderer stellen den Nachdruck auf die Wichtigkeit des Körpergewichts und der Körperhöhe für das Rudern. Es bleibt noch unklar, wie wichtig die proportionale Längenzunahme ist. Während der Junioren Weltmeisterschaften im 1997 wurden die Körperbau-Messungen (Körpergewicht und 6 Extremitätenlängen) auf 383 leistungsstärksten Junioren-Ruderer vorgenommen. Auf Grund dieser Messungen einige proportionale Extremitätenlängen wurden berechnet. Die Angaben über die Bootsgat-tung wurden einem Fragebogen entnommen, während die Angaben über dem Wettkampf-Niveau auf den während der Meisterschaft gewonnenen Ergebnissen basierten. Den Ergebnissen nach wogen diese Ruderer mehr (Mittelwert = 82,2±7,4 kg), sie waren größer (Mittelwert = 187,4±5,8 cm) und hatten eine größere Sitzhöhe (Mittelwert = 96,8±3,2 cm) und längere Beine (Mittelwert = 90,7±3,8 cm) als die Referenz-Grundgesamtheit. Die Finalisten hatten bedeutend größere Extremitätenlängenwerte als die Nicht-Finalisten, während die Riemenruderer im allgemeinen größere Extremitätenlängenwerte hatten als die Skuller. Keine Unterschiede waren zu merken, wenn die Extremitätenlängenwerte proportional der Körperhöhe der Ruderer dargestellt wurden. Daraus lässt sich schließen, dass die leistungsstärksten Junioren größere Extremitätenlängenwerte haben im Vergleich zu den weniger erfolgreichen Ruderern, aber diese Spitzensportler unterscheiden sich keineswegs von weniger erfolgreichen Sportlern im Bezug auf die proportionale Längenzunahme. Die Unterschiede sind bei den Riemenruderern und den Skullern zu merken, wobei die Skuller größere Extremitätenlängenwerte aufzeigen

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1—c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly)—both affecting functionally important and conserved residues in SEC61. Both transiently expressed SEC6A1A variants are delocalized to the Golgi, a finding confirmed in a renal biopsy from an affected individual. Suppression or CRISPR-mediated deletions of sec61al2 in zebrafish embryos induced convolution defects of the pronephric tubules but not the pronephric ducts, consistent with the tubular atrophy observed in the affected individuals. Human mRNA encoding either of the two pathogenic alleles failed to rescue this phenotype as opposed to a complete rescue by human wild-type mRNA. Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. We highlight protein translocation defects across the endoplasmic reticulum membrane, the principal role of the SEC61 complex, as a contributory pathogenic mechanism for ADTKD

Multi-Omics and Pathway analyses of Genome-Wide associations Implicate Regulation and Immunity in Verbal Declarative Memory Performance

BACKGROUND: Uncovering the functional relevance underlying verbal declarative memory (VDM) genome-wide association study (GWAS) results may facilitate the development of interventions to reduce age-related memory decline and dementia. METHODS: We performed multi-omics and pathway enrichment analyses of paragraph (PAR-dr) and word list (WL-dr) delayed recall GWAS from 29,076 older non-demented individuals of European descent. We assessed the relationship between single-variant associations and expression quantitative trait loci (eQTLs) in 44 tissues and methylation quantitative trait loci (meQTLs) in the hippocampus. We determined the relationship between gene associations and transcript levels in 53 tissues, annotation as immune genes, and regulation by transcription factors (TFs) and microRNAs. to identify significant pathways, gene set enrichment was tested in each cohort and meta-analyzed across cohorts. Analyses of differential expression in brain tissues were conducted for pathway component genes. RESULTS: The single-variant associations of VDM showed significant linkage disequilibrium (LD) with eQTLs across all tissues and meQTLs within the hippocampus. Stronger WL-dr gene associations correlated with reduced expression in four brain tissues, including the hippocampus. More robust PAR-dr and/or WL-dr gene associations were intricately linked with immunity and were influenced by 31 TFs and 2 microRNAs. Six pathways, including type I diabetes, exhibited significant associations with both PAR-dr and WL-dr. These pathways included fifteen MHC genes intricately linked to VDM performance, showing diverse expression patterns based on cognitive status in brain tissues. CONCLUSIONS: VDM genetic associations influence expression regulation via eQTLs and meQTLs. The involvement of TFs, microRNAs, MHC genes, and immune-related pathways contributes to VDM performance in older individuals

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases. We report de novo assemblies of 150 individuals (50 trios) from the GenomeDenmark project. The quality of these assemblies is similar to those obtained using the more expensive long-read technology. We use the assemblies to identify a rich set of structural variants including many novel insertions and demonstrate how this variant catalogue enables further deciphering of known association mapping signals. We leverage the assemblies to provide 100 completely resolved major histocompatibility complex haplotypes and to resolve major parts of the Y chromosome. Our study provides a regional reference genome that we expect will improve the power of future association mapping studies and hence pave the way for precision medicine initiatives, which now are being launched in many countries including Denmark