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Several candidate genes along androgen pathway have been suggested to affect prostate cancer risk but no single gene seems to be overwhelmingly important for a large fraction of the patients. In this study, we first screened for variants in candidate genes and then chose to explore the association between 18 variants and prostate cancer risk by genotyping DNA samples from unselected (n = 847) and
A major complication of multiple myeloma (MM) is the development of osteolytic lesions, fractures and bone pain. To identify genetic variants influencing the development of MM bone disease (MBD), we analyzed MM patients of European ancestry (totalling 3774) which had been radiologically surveyed for MBD. Each patient had been genotyped for ~600 000 SNPs with genotypes for six million common varian
Popular Abstract in Swedish Hemofili (blödarsjuka) A och B, är X-kromosomalt, recessivt, nedärvda sjukdomar som orsakas av brist på eller avsaknad av koagulationsfaktor VIII respektive IX i blodet (FVIII och FIX). Sjukdomen drabbar män och överförs till nästa generation av kvinnliga bärare, som vanligtvis inte själva har några blödnings-symtom. Blödarsjuka ger redan tidigt i livet upphov till blödThe general aim of this study has been to study the psychological, social and ethical aspects for carriers of haemophilia and their spouses, related to the development of techniques for carrier testing and for prenatal diagnosis (PD) of haemophilia. This was investigated by a semi-structured follow-up interview with 29 carriers of haemophilia with experience of PD by fetal blood sampling (FBS), an
PURPOSE: Long-chain polyunsaturated fatty acids (LCPUFA) can be synthesised endogenously from linoleic acid (LA) and α-linolenic acid (ALA) in a pathway involving the fatty acid desaturase (FADS) genes. Endogenous synthesis is inefficient; therefore, dietary intake of preformed LCPUFA from their richest source of fish is preferred. This study investigated the effect of fish consumption on PUFA con
HLA-DQA1 and -DQB1 genes have significant and potentially causal associations with autoimmune type 1 diabetes (T1D). To follow on the earlier analysis on high-risk HLA-DQ2.5 and DQ8.1, the current analysis uncovers seven residues (αa1, α157, α196, β9, β30, β57, β70) that are resistant to T1D among subjects with DQ4, 5, 6 and 7 resistant DQ haplotypes. These seven residues form 13 common motifs; si
Precision-cut lung slices (PCLS) have gained increasing interest as a model to study lung biology/disease and screening novel therapeutics. In particular, PCLS derived from human tissue can better recapitulate some aspects of lung biology/disease as compared to animal models. Several experimental readouts have been established for use with PCLS, but obtaining high yield and quality RNA for downstr
BACKGROUND: In Sweden, approximately half of all individuals who die receive municipal care prior to death. Access to high-quality palliative care remains unequal, with known disparities between both care settings and diagnostic groups. Individuals receiving municipal home care are at higher risk of acute hospital admissions and in hospital death than those in long-term care facilities. However, t
An increase of the cases of viral meningoencephalitis was reported in our country from October to December, 1995. 23 faeces specimens were received from 2 provinces aimed at obtaining the viral isolation by their inoculation in cell culture and in newborn mice at the same time in order to compare the sensitivity of both systems in isolation. A higher number of isolations was obtained in cell cultu
Liver disease is linked to a decreased capacity of hepatocytes to divide. In addition, cellular metabolism is important for tissue homeostasis and regeneration. Since metabolic changes are a hallmark of liver disease, we investigated the connections between metabolism and cell division. We determined global metabolic changes at different stages of liver regeneration using a combination of integrat
In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of sensorineural hearing loss (SNHL) for PMD cases with different genetic etiologies. Subjects were grouped by genetic diagnosis: mitochondrial DNA (mtDNA)
BACKGROUND: The COVID-19 pandemic has seen many deaths, but the majority were for causes other than COVID-19. However, end-of-life care in all settings has been affected by measures limiting the spread of the virus, for patients with and without COVID-19. The Swedish coronavirus strategy was different compared to many other countries, which might have affected end-of-life care. The aim was to desc
Denna avhandling utvecklar och utvärderar språkbaserade bedömningar som använder artificiell intelligens (AI) för att omvandla öppet språk till kvantitativa indikatorer och beskrivningar av psykiska hälsorelaterade konstruktioner. Medan slutna skalor länge har dominerat psykologiska bedömningar, är de begränsade av fasta svarsformat och kanske inte helt fångar komplexiteten i individers upplevelseThis thesis develops and evaluates language-based assessments that use artificial intelligence (AI) to transform open-ended language into quantitative indicators and descriptions of mental health related constructs. While closed-ended scales have long dominated psychological assessment, they are limited by fixed response formats and may not fully capture the complexity of individuals’ experiences.
IMPORTANCE: An accurate blood test for Alzheimer disease (AD) could streamline the diagnostic workup and treatment of AD.OBJECTIVE: To prospectively evaluate a clinically available AD blood test in primary care and secondary care using predefined biomarker cutoff values.DESIGN, SETTING, AND PARTICIPANTS: There were 1213 patients undergoing clinical evaluation due to cognitive symptoms who were exa
Providing humoral immunity, antibody-secreting plasma cells and their immediate precursors, the plasmablasts, are generated in systemic and mucosal immune reactions. Despite their key role in maintaining immunity and immunopathology, little is known about their homeostasis. Here we show that plasmablasts and plasma cells are always detectable in human blood at low frequency in any unimmunized dono
UNLABELLED: Maintaining high-affinity antibodies after vaccination may be important for long-lasting immunity to malaria, but data on induction and kinetics of affinity is lacking. In a phase 1 malaria vaccine trial, antibody affinity increased following a second vaccination but declined substantially over 12 months, suggesting poor maintenance of high-affinity antibodies.CLINICAL TRIALS REGISTRAT
The main goal of this thesis has been to investigate the interaction of the intrinsically disordered peptide Histatin 5 (Hst5), with phospholipid bilayers, using a mixture of experimental and computational techniques, such as, small- angle X-ray scattering, circular dichroism, neutron reflectometry, quartz-crystal microbalance with dissipation monitoring, atomistic molecular dynamics simulations, The main goal of this thesis has been to investigate the interaction of the intrinsically disordered peptide Histatin 5 (Hst5), with phospholipid bilayers, using a mixture of experimental and computational techniques, such as, small- angle X-ray scattering, circular dichroism, neutron reflectometry, quartz-crystal microbalance with dissipation monitoring, atomistic molecular dynamics simulations,
BACKGROUND: After combat-related lower extremity amputations, patients rapidly lose bone mineral density (BMD). As serial dual x-ray absorptiometry (DXA) scans are rarely performed in this setting, it is difficult to determine the timeline for bone loss and recovery or the role of interventions. However, a strong correlation has been demonstrated between DXA BMD and computed tomography (CT) signal
