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No Association Between Vitamin D Status and Risk of Barrett's Esophagus or Esophageal Adenocarcinoma: A Mendelian Randomization Study.
2019
Contains fulltext : 215282.pdf (Publisher’s version ) (Closed access) BACKGROUND & AIMS: Epidemiology studies of circulating concentrations of 25 hydroxy vitamin D (25(OH)D) and risk of esophageal adenocarcinoma (EAC) have produced conflicting results. We conducted a Mendelian randomization study to determine the associations between circulating concentrations of 25(OH)D and risks of EAC and its precursor, Barrett's esophagus (BE). METHODS: We conducted a Mendelian randomization study using a 2-sample (summary data) approach. Six single-nucleotide polymorphisms (SNPs; rs3755967, rs10741657, rs12785878, rs10745742, rs8018720, and rs17216707) associated with circulating concentrations of 25(O…
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
2004
Contains fulltext : 48815.pdf (Publisher’s version ) (Closed access) Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it …
DSM-IV Combined Type ADHD Shows Familial Association With Sibling Trait Scores
2008
Contains fulltext : 69060.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a discrete clinical syndrome characterized by the triad of inattention, hyperactivity, and impulsivity in the context of marked impairments. Molecular genetic studies have been successful in identifying genetic variants associated with ADHD, particularly with DSM-IV inattentive and combined subtypes. Quantitative trait locus (QTL) approaches to linkage and association mapping have yet to be widely used in ADHD research, although twin studies investigating individual differences suggest that genetic liability for ADHD is continuously distributed throughout the population, u…
Influence of heme oxygenase 1 modulation on the progression of murine collagen-induced arthritis.
2005
Contains fulltext : 48023.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Heme oxygenase 1 (HO-1) can be induced by inflammatory mediators as an adaptive response. The objective of the present study was to determine the consequences of HO-1 modulation in the murine collagen-induced arthritis (CIA) model. METHODS: DBA/1J mice were treated with an inhibitor of HO-1, tin protoporphyrin IX (SnPP), or with an inducer of HO-1, cobalt protoporphyrin IX (CoPP), from day 22 to day 29 after CIA induction. The clinical evolution of disease was monitored visually. At the end of the experiment, joints were examined for histopathologic changes. Cytokine levels in paws were measured by enzyme-linked…
Detecting global and local hippocampal shape changes in Alzheimer's disease using statistical shape models.
2012
Item does not contain fulltext The hippocampus is affected at an early stage in the development of Alzheimer's disease (AD). With the use of structural magnetic resonance (MR) imaging, we can investigate the effect of AD on the morphology of the hippocampus. The hippocampal shape variations among a population can be usually described using statistical shape models (SSMs). Conventional SSMs model the modes of variations among the population via principal component analysis (PCA). Although these modes are representative of variations within the training data, they are not necessarily discriminative on labeled data or relevant to the differences between the subpopulations. We use the shape des…
Militārā kartogrāfija Latvijā laika posmā no 1990. gada līdz 2012. gadam
2015
Ceļš uz militāro karšu ražošanu nebija viegls, tomēr pateicoties speciālistiem izdevās gan iegūt bagātīgu kartogrāfisko materiālu no PSRS, gan noturēt militārās kartogrāfijas nozari Latvijā. Darbā apskatīta bruņoto spēku saikne ar militārajām topogrāfiskajām kartēm un ĢIS pielietojumiem armijas vajadzībām. Savukārt pētījuma daļā aplūkota Latvijas pieredze un attīstības ceļš pēc neatkarības atjaunošanas militārās kartogrāfijas jomā. 1992.gadā tika izveidots Valsts zemes dienests, kura pakļautībā līdz 2006.gadam atradās Ģeodēzijas un kartogrāfijas departaments. Pēc VZD reorganizācijas departaments nonāca Aizsardzības ministrijas padotībā, un 2006.gadā darbu uzsāka Latvijas Ģeotelpiskās inform…
Miksi työmarkkinoiden ja kielikoulutuksen tarpeet eivät kohtaa?
2012
Luopumalla eri kielten lokeroajattelusta ja omaksumalla uudenlainen näkemys kielten opiskeluun tuotettaisiin suurempaa kielitaitohyötyä niin työelämässä kuin sen ulkopuolellakin. Language for Jobs työryhmä on etsinyt ratkaisuja kielitaitotarpeiden ja kielikoulutuksen tarjonnan kohtaamisen ongelmiin.
Kotoutumiskoulutuksen opetussuunnitelman perusteet kuvaa tavoitettaan osallisuutta epämääräisesti ja kapeasti
2023
Kotoutumiskoulutuksen uudessa perusteasiakirjassa korostuu osallisuuden käsite. Se jää kuitenkin määrittelemättä: osallisuuteen viitataan sekä kapearajaisesti työmarkkinaosallisuutena että epäsuorasti niin, että käsitteen varsinainen merkitys jää avoimeksi. Tutkimuskirjallisuudessa osallisuus edellyttää laaja-alaista sosiaalis-yhteiskunnallista kuulumista ja yhdenvertaisuutta. nonPeerReviewed
Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction
2010
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carrie…
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2…
2012
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 BRCA1 and 2,568 BRCA2 mutation carriers to analyze the pathology of invasive breast, ovarian, and contralateral breast cancers. Results: There was strong evidence that the proportion of estrogen receptor (ER)-negative breast tumors decreased with age at diagnosis among BRCA1 (P-trend = 1.2 × 10−5), but increased with age at diagnosis among BRCA2, carriers (P-trend = 6.8 × 10−6). The proportion of triple-negative tumors decreased with age at diagnos…