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Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by disease-causing variants in the gene coding for arylsulfatase A, leading to deficient enzyme activity and subsequent accumulation of sulfatides. MLD is characterized by demyelination and neurodegeneration of the central and peripheral nervous system, manifesting as progressive motor and cognitive
BACKGROUND: Plasma biomarkers associated with Alzheimer's disease could improve prognostic assessment for people with Down syndrome in both clinical practice and research settings. We aimed to identify the plasma biomarkers that most accurately predict longitudinal changes in Alzheimer's disease-related pathology and cognitive functioning in individuals with Down syndrome.METHODS: This longitudina
Tissue engineering strategies predominantly rely on the production of living substitutes, whereby implanted cells actively participate in the regenerative process. Beyond cost and delayed graft availability, the patient-specific performance of engineered tissues poses serious concerns on their clinical translation ability. A more exciting paradigm consists in exploiting cell-laid, engineered extra
BACKGROUND: Skin cancer is a prevalent and clinically significant condition, with early and accurate diagnosis being crucial for improved patient outcomes. Dermoscopy and artificial intelligence (AI) hold promise in enhancing diagnostic accuracy. However, the impact of image quality, particularly high dynamic range (HDR) conversion in smartphone images, on diagnostic performance remains poorly und
BACKGROUND: Telomere length (TL) and mitochondrial DNA copy number (mtDNAcn) variations are linked to age-related diseases and are associated with environmental exposure and nutritional status. Limited data, however, exist on the associations with mercury exposure, particularly early in life.OBJECTIVE: We examined the association between prenatal mercury (Hg) exposure and TL and mtDNAcn in 1,145 S
This study showcases an integrative mass spectrometry-based strategy combining systems antigenomics and systems serology to characterize human antibodies in clinical samples. This strategy involves using antibodies circulating in plasma to affinity-enrich antigenic proteins in biochemically fractionated pools of bacterial proteins, followed by their identification and quantification using mass spe
Popular Abstract in English A large variety of microorganisms are present in nature and have indispensable roles in recycling carbon, remediation of the environment, agriculture, and also in providing health benefits to humans. Microorganisms are microscopic versatile living factories that can consume several different natural as well as synthetic compounds for their growth and also produce differA shift from fossil- to renewable biomass feedstock for the emerging bio-based economy requires the development and adoption of new sustainable technologies that are more suited for transformation of biomass components to chemicals, materials and energy. This thesis presents investigations on the development of processes based on industrial biotechnology as a key element for the production of chem
We studied damage accrual and factors determining development and progression of damage in an international cohort of systemic lupus erythematosus (SLE) patients.
Linear-accelerator-based sources will revolutionize ultrafast x-ray science due to their unprecedented brightness and short pulse duration. However, time-resolved studies at the resolution of the x-ray pulse duration are hampered by the inability to precisely synchronize an external laser to the accelerator. At the Sub-Picosecond Pulse Source at the Stanford Linear-Accelerator Center we solved thi
We examined the association between fruits and vegetables and risk of renal cell carcinoma (RCC) in the European Prospective Investigation into Cancer and Nutrition (EPIC). Dietary intake data and complete follow-up information on cancer incidence were available for 375,851 participants recruited in EPIC centers of 8 countries. During an average follow-up of 6.2 years, 306 incident cases of RCC we
The evidence for anthropometric factors influencing breast cancer risk is accumulating, but uncertainties remain concerning the role of fat distribution and potential effect modifiers. We used data from 73,542 premenopausal and 103,344 postmenopausal women from 9 European countries, taking part in the EPIC study. RRs from Cox regression models were calculated, using measured height, weight, BMI an
Environmental processes have been modelled for decades. However. the need for integrated assessment and modeling (IAM) has,town as the extent and severity of environmental problems in the 21st Century worsens. The scale of IAM is not restricted to the global level as in climate change models, but includes local and regional models of environmental problems. This paper discusses various definitions
There is convincing evidence for a decreased risk of breast cancer with increased physical activity. Uncertainties remain, however, about the role of different types of physical activity on breast cancer risk and the potential effect modification for these associations. We used data from 218,169 premenopausal and postmenopausal women from nine European countries, ages 20 to 80 years at study entry
Three-body correlations in the dissociation of two-neutron halo nuclei are explored using a technique based on intensity interferometry and Dalitz plots. This approach provides for the combined treatment of both the n-n and core-n interactions in the exit channel. As an example, the breakup of 14Be into 12Be+n+n by Pb and C targets has been analyzed and the halo n-n separation extracted. Evidence
Den globala jordbruksproduktionen har de senaste fem decennierna nästan tredubblats. Produktionsökningen beror på ett allt intensivare jordbruk samt konvertering av naturliga ekosystem till jordbruksmark. Intensifieringen av jordbruket har skett genom ökad användning av högavkastande grödor, mekanisering, bevattning, konstgödsel och bekämpningsmedel. Både intensivare jordbruk och expansionen av joGlobal agricultural production almost tripled within the last five decades. The production increase wasbased on expanding cropland and pastures, as well as the intensification of agriculture, including increased use ofhigh yielding crop varieties, machinery, irrigation, artificial fertilisers, and pesticides. Both, agriculturalintensification and the expansion of agricultural land-use lead to envi
The overall aim was to investigate informal caregivers providing care for older persons with dementia (≥ 65 years of age) in eight European countries. Focus was on their experiences of formal care, access to support and factors that were associated with caregivers’ psychological well-being and burden. Caregivers’ experiences of formal care were investigated in a qualitative study with four focus gThe overall aim was to investigate informal caregivers providing care for older persons with dementia (≥ 65 years of age) in eight European countries. Focus was on their experiences of formal care, access to support and factors that were associated with caregivers’ psychological well-being and burden. Caregivers’ experiences of formal care were investigated in a qualitative study with four focus g
gamma-spectroscopy methods have been used to search for microsecond isomers among the fragmentation products of a 1 GeV/nucleon Pb-208 beam. In particular the population of the known K-pi = 35/2(-) isomer in W-179 has been investigated and several new isomeric decays have been found for neutron rich nuclei in the A approximate to 180-200 mass region. The ground state band of the neutron rich N = 1
Popular Abstract in Swedish Hur hade vår värld sett ut utan den teknologiska revolutionen som skett de senaste decennierna? Inget internet, inga mobiltelefoner, inga surfplattor? Drivkraften bakom att det hela är en väldigt liten beståndsdel som sitter i nästan all elektronik, den så kallade transistorn. En transistor kan se lite olika ut men är i stora drag en elektrisk komponent där man styr strThis thesis explores several novel material systems and innovative device concepts enabled by nanowire technology. State-of-the-art fabrication techniques such as electron beam lithography and atomic layer deposition are utilized to achieve high control and quality in the device fabrication. The devices in this thesis are based on two main types of design geometries, lateral and vertical, each of
Popular Abstract in Swedish Neuroblastom, när utvecklingen går fel Neuroblastom är en tumörsjukdom som drabbar små barn och i Sverige diagnosticeras ungefär 14 barn med neuroblastom varje år. Neuroblastomtumörerna utvecklas under anläggningen av det sympatiska nervsystemet, som är en del av det icke-viljestyrda nervsystemet och har till uppgift att anpassa kroppens svar på stress och fara genom atThe childhood malignancy neuroblastoma develops from early cells of the sympathetic nervous system (SNS), and the tumors often produce catecholamines. Neuroblastoma cells retain several characteristics of immature sympathetic cells including the expression of a number of transcription factors normally expressed during embryogenesis. The genesis of the SNS requires the correct expression pattern of
