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ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the lysophosphatidylserine and/or endocannabinoid pathways, its precise functional role(s) leading to PHARC disease had not previously been characterized
A dolerite sill cutting slightly older basalt in west-central Sweden shows a strong chemical variation (54%
Little is known about the lipid composition of cold-adapted dinoflagellates. Here, we investigate Peridinium aciculiferum and Scrippsiella hangoei, two cold-adapted dinoflagellate morphospecies that present significant differences in general morphology, physiology and habitat, but which share identical ribosomal DNA (rDNA) sequences, indicating a recent evolutionary divergence between them. Despit
Objective: Chemokines are small soluble molecules which mediate leukocyte migration and may be involved in the pathophysiology of preterm labor. We aimed to determine if serum concentrations of selected chemokines are changed in preterm labor and delivery. Study design: A novel array-based enzyme-linked immunosorbent assay was used to quantitate serum levels of nine chemokines from a single sample
Objective: Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the a-synuclein gene (SNCA). Methods: A methodological approach us
The majority of genetic studies of colorectal carcinogenesis have focused on changes found in primary tumors. Despite the fact that liver metastases are a leading cause of colorectal cancer deaths, the molecular genetic basis of the advanced disease stages remains poorly understood. We performed comparative genomic hybridization (CGH) on 17 liver metastases from colorectal carcinomas and compared
At least 10% of all ovarian cancers are estimated to have a hereditary background. Hereditary breast-ovarian cancer (HBOC) due to mutations in the BRCA genes is a major cause of hereditary ovarian cancer, although its frequency and relationship to age and family history in unselected series of ovarian cancers is not completely known. We report here the results of a full mutational screening analys
The history of von Willebrand's disease (VWD) is fascinating because it demonstrates how good clinical observations, genetic studies and biochemical skills can improve basic understanding of a disease and its management. The continuous efforts of scientists and clinicians during the last 80 years have significantly improved the knowledge of von Willebrand factor (VWF) structure and function and th
We studied a ca 200 ha large forest site that holds an exceptionally large number of red-listed saproxylic beetles. We conducted pollen, charcoal and dendroecological analyses to reveal the long-term stand-level history of the site. We also investigated which of the red-listed saproxylic beetles recorded at the site are probably dependent on forest fires or structures that are created by fires. Po
Two-dimensional SIDS-PAGE gel electrophoresis using post-run staining is widely used to measure the abundances of thousands of protein spots simultaneously. Usually, the protein abundances of two or more biological groups are compared using biological and technical replicates. After gel separation and staining, the spots are detected, spot volumes are quantified, and spots are matched across gels.
Background A large number of observational epidemiological studies have reported generally positive associations' between circulating mass and activity levels of lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) and the risk of cardiovascular diseases. Few studies have been large enough to provide reliable estimates in different circumstances, such as in different subgroups (e.g., by age group
BACKGROUND: Multiple medicine use among elderly persons is likely to be the result of treatment regimens developed over a long period of time. By learning more about how multiple medication use develops, the quality of prescribing may be improved across the adult lifespan. OBJECTIVE: To describe patterns of multiple medicine use in the general Swedish population and its association with sociodemog
Popular Abstract in Swedish Syfte: Att undersöka den prediktiva precisionen hos ålder för missbruksdebut, MAO-B aktiviteten i blod, samt olika kombinationer av kriminologiska och kliniska riskfaktorer med avseende på återfall i våldsbrott hos tidigare våldsbrottsdömda i en prospektiv svensk uppföljningsstudie. Studiepopulation: Hundra våldsbrottslingar, konsekutivt intagna för rättspsykiatrisk undObjective: To test the predictive accuracy for violent recidivism of the age at onset of substance abuse, the platelet MAO-B activity, and various combinations of criminological and clinical risk factors among violent offenders in a prospective Swedish follow-up study. Subjects: One hundred violent offenders, consecutively admitted for forensic psychiatric investigations between 1998 and 2001 (bas
Popular Abstract in Swedish Bröstcancer är den typ av cancer som drabbar flest kvinnor i Sverige. Årligen diagnostiseras drygt 7000 kvinnor med bröstcancer och ungefär 1400 dör av sin sjukdom. För att minska bröstcancerdödligheten rekommenderar Socialstyrelsen mammografiscreening där kvinnor över 40 år bjuds in för regelbundna kontroller. Dessa kontroller utförs med digital mammografi som innebär Breast cancer is the most common form of cancer affecting women in the western countries. Today x-ray digital mammography (DM) of the breast is commonly used for early detection of breast cancer. However, the sensitivity of mammography is limited, mainly due to the fact that a 3D volume is projected down to a 2D image. This problem can be partially solved by a tomographic technique. Breast tomosyn
From the network layer perspective, the problem of burst losses is one of the most challenging problems which restrain the development of optical burst switching (OBS) networks. Indeed, OBS is a buffer-less technology and the consequent lack of guarantees for data delivery may affect significantly the quality of service (QoS) perceived by end users. To overcome these obstacles, dedicated network m
Wireless adhoc networks transmit information from a source to a destination via multiple hops in order to save energy and, thus, increase the lifetime of battery-operated nodes. The energy savings can be especially significant in cooperative transmission schemes, where several nodes cooperate during one hop to forward the information to the next node along a route to the destination. Finding the b
INTRODUCTION: Sex steroids are important for growth and maintenance of the skeleton. Catechol-O-methyltransferase (COMT) is an estrogen degrading enzyme. The COMT val158met polymorphism results in a 60-75% difference in enzyme activity between the val (high activity=H) and met (low activity=L) variants. We have previously reported that this polymorphism is associated with bone mineral density (BMD
Background: The orally active quinoline-3-carboxamide tasquinimod [ABR-215050; CAS number 254964-60-8), which currently is in a phase II-clinical trial in patients against metastatic prostate cancer, exhibits anti-tumor activity via inhibition of tumor angiogenesis in human and rodent tumors. To further explore the mode of action of tasquinimod, in vitro and in vivo experiments with gene microarra
In order to improve biological control of agricultural pests, it is fundamental to understand which factors influence the composition of natural enemies in agricultural landscapes. In this study, we aimed to understand how agricultural land use affects a number of different traits in ground beetle communities to better predict potential consequences of land-use change for ecosystem functioning. We
Objective: To investigate recent evidence suggesting that social factors are causally related to the development of schizophrenia. Method: I conducted a sytematic review of MEDLINE to identify possibly relevant studies. The search was limited to peer-reviewed studies and review articles appearing in English-language journals since 1996. Studies were included if they used standardized diagnostic cr
