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PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In
Background: Adjuvant chemotherapy is standard treatment for other solid tumours, but to date has not proven effective in prostate cancer. Objective: o evaluate whether six cycles of docetaxel alone improve biochemical disease-free survival after radical prostatectomy for high-risk prostate cancer. Design, setting, and participants: Open-label, randomised multinational phase 3 trial. Enrolment of 4
Aim: To examine whether exposure to increased alcohol availability in utero is associated with later alcohol-related health problems. Method: Register-linked population-based longitudinal study using data from a natural experiment setting, including 363 286 children born 1965-71. An experimental alcohol policy change was piloted in two regions of Sweden in 1967-68, where access to strong beer incr
Background: Surgery for prostate cancer has a large impact on quality of life (QoL). Objective: To evaluate predictors for the level of self-assessed QoL at 3 mo, 12 mo, and 24 mo after robot-assisted laparoscopic (RALP) and open radical prostatectomy (ORP). Design, setting, and participants: The LAParoscopic Prostatectomy Robot Open study, a prospective, controlled, nonrandomised trial of more th
Background--Thrombus aspiration is still being used in a substantial number of patients despite 2 large randomized clinical trials showing no favorable effect of routine thrombus aspiration during primary percutaneous coronary intervention in patients with STsegment- elevation myocardial infarction. The aim of this observational study was to evaluate the impact of thrombus aspiration on mortality,
Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequenc
Alzheimer's disease (AD) is the most common form of dementia characterized by the formation of amyloid plaques (Aβ). Over the last decade, the important role of the innate immune system for the disease development has been established. Chronic activation of microglial cells creates a proinflammatory environment, which is believed to be central for the development of the disease as well as its prog
Osteoporosis, a prevalent metabolic bone disorder, predisposes individuals to increased susceptibility to fractures. It is also, somewhat controversially, thought to delay or impair the regenerative response. Using high-resolution Fourier-transform infrared spectroscopy and small/wide-angle X-ray scattering we sought to answer the following questions: Does the molecular composition and the nano-st
Origenes' samtal med Herakleides: översättning med noter och kort kommentar.
Human hair is laminar-fibrous tissue and an evolutionarily old keratinization product of follicle trichocytes. Studies on the hair proteome can give new insights into hair function and lead to the development of novel biomarkers for hair in health and disease. Human hair proteins were extracted by detergent and detergent-free techniques. We adopted a shotgun proteomics approach, which demonstrated
Översättningar av fyrtio kyrkofäderstexter för en ny svensk version av Liturgia horarum, den romersk-katolska tidegärden.
Planets form in circumstellar discs around young stars. Starting with sub-micron sized dust particles, giant planet formation is all about growing 14 orders of magnitude in size. It has become increasingly clear over the past decades that during all stages of giant planet formation, the building blocks are extremely mobile and can change their semimajor axis by substantial amounts. In this chapter
Anecdotal evidence suggests that harsh social conditions in the road haulage industry are having an impact on transport crime. This paper analyses transport crime, and demonstrates how to use a combination of official statistics and crowdsourced data in the process. A hierarchical regression analysis was applied to investigate the relations among different factors in order to predict transport cri
Rapporten, som är resultat av samarbetet mellan Kronofogden och Rättssociologiska institutionen vid Lunds universitet, har sitt avstamp i rättens betydelse för att de niera och mäta överskuldsättning. Den lyfter upp och sammanför två av samhällets och rättssystemets stora problemområden: migration och överskuldsättning. Empirin i rapporten utgöras av en samkörning av Kronofogdens u
Spatially distributed transmission points connected to the same source, known as distributed antenna systems, can improve system performance compared to single-link traditional systems. However, the anticipated gain depends heavily on the cross-correlation properties of the large-scale parameters (LSPs) of the different links. Usually, measured LSPs—except the large-scale fading
In this thesis, crystals of yttrium orthosilicate (Y2SiO5) that are randomly doped with another rare-earth element, such as praseodymium (Pr), europium (Eu), or cerium (Ce), are investigated with lasers locked to ultra-stable cavities using the Pound-Drever-Hall locking technique. Many of these rare-earth elements have long-lived 4f-4f transitions, hundreds of microseconds to a few milliseconds, w
A modelling methodology was developed that simulates the resulting pH and alkalinity in the mixing zone when acidic water is discharged into a river. The input to the model are the: pH, alkalinity, flow, and temperature of both the river water and the acidic discharge. Two different scenarios were simulated: (1) a change of pH in the acidic discharge, assuming constant flow; and (2) a change in th
A general theoretical approach to study the quantum kinetics in a system coupled to a bath is proposed. Starting with the microscopic interaction, a Lindblad master equation is established, which goes beyond the common secular approximation. This allows for the treatment of systems, where coherences are generated by the bath couplings while avoiding the negative occupations occurring in the Bloch-
IMPORTANCE Cerebral amyloid-β aggregation is an early event in Alzheimer disease (AD). Understanding the association between amyloid aggregation and cognitive manifestation in persons without dementia is important for a better understanding of the course of AD and for the design of prevention trials. OBJECTIVE To investigate whether amyloid-β aggregation is associated with cognitive functioning in
