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Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. Undegraded heparan sulfate molecules accumulate within lysosomes leading to cellular dysfunction and pathology in several organs, with severe central nervous system degeneration a
The Kingdom of Crystal, an area in southern Sweden famous for its many glassworks, is historically heavily burdened by pollution from this industry. Glass crust containing cadmium (Cd), lead (Pb), and arsenic (As) has been deposited around the area and used as filling. The purpose of this study was to monitor whether the high levels of metals in the contaminated soil were reflected in blood and ur
OBJECTIVES: Low or high sympatho-adrenal-medullary axis (SAM) and hypothalamic-pituitary-adrenal axis (HPA) dysregulation reflect chronic stress. Retinal vessel dynamics may relate to SAM, HPA activity and stroke risk. Our objectives were therefore to assess the relationships between retinal vessel, SAM and HPA responses, and to determine stroke risk.METHODS: A prospective bi-ethnic gender cohort
Exhaled breath temperature has been suggested to reflect airway inflammation, and it would be plausible to measure the peripheral airway temperature as a correlate to peripheral airway inflammation. This study aims to explore the relative peripheral airway temperature in patients with asthma, chronic obstructive pulmonary disease (COPD) or systemic sclerosis (SSc) compared to healthy controls, and
Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the benefits and harms of TNFi in patients with JIA.
Introduction: Arthroscopic partial meniscectomy (APM) after degenerative meniscus tears is one of the most frequently performed surgeries in orthopaedics. Although several randomised controlled trials (RCTs) have been published that showed no clear benefit compared with sham treatment or non-surgical treatment, the incidence of APM remains high. The common perception by most orthopaedic surgeons i
We apply a spectrally-resolved electron interferometry technique to the measurement of the spectral phase in the vicinity of the 3s13p64p Fano resonance of argon. We show that it allows disentangling the phases of the two nearly-overlapping electron wavepackets corresponding to different spin-orbit final states. Using simple assumptions, it is possible to process the experimental data and numerica
Purpose: Insomnia affects up to one in four adolescents and has been shown to have a negative impact on their mental and physical health. This study aimed to investigate the association between insomnia, academic performance, self-reported health, physical activity, school start time, and substance use among adolescents. Methods: A survey with a cross-sectional design was completed by adolescents
The Global Lung Function Initiative (GLI) has recently published international reference values for diffusing capacity of the lung for carbon monoxide (DLCO). Lower limit of normal (LLN), i.e. the 5th percentile, usually defines impaired DLCO We examined if the GLI LLN for DLCO differs from the LLN in a Swedish population of healthy, never-smoking individuals and how any such differences affect id
BACKGROUND: High carbohydrate intake raises blood triglycerides, glucose, and insulin; reduces HDLs; and may increase risk of coronary heart disease (CHD). Epidemiological studies indicate that high dietary glycemic index (GI) and glycemic load (GL) are associated with increased CHD risk. OBJECTIVES: The aim of this study was to determine whether dietary GI, GL, and available carbohydrates are ass
Aim: To investigate the risk of major amputation after elective endovascular therapy in patients with chronic limb threatening ischemia (CLTI) comparing patients with and without diabetes mellitus (DM). Methods: In this nationwide cohort study, all patients registered in the Swedish Vascular Register after elective endovascular therapy for CLTI caused by infra-inguinal arterial disease from 2010 t
BACKGROUND: -Ethnic differences in cardiac arrhythmia incidence have been reported, with a particularly high incidence of sudden cardiac death (SCD) and low incidence of atrial fibrillation in individuals of African ancestry. We tested the hypotheses that African ancestry and common genetic variants are associated with prolonged duration of cardiac repolarization, a central pathophysiological dete
The aim was to study possible associations between smoking habits and self-reported clinical features in a large population-based cohort of patients with psoriatic arthritis (PsA). All subjects with PsA who had sought health care in the period 2003-2007 were identified using a regional health-care register. In 2009, all those identified who were 18 years of age or more (n = 2,003) were sent a ques
We have investigated the crystal and the electronic structure of a new ternary phase, Au2InGa2 using powder and single crystal X-Ray Diffraction (XRD) and Stuttgart Tight Binding LMTO-ASA methods, respectively. Complementary methods including Thermo-Gravimetric Differential Thermal Analysis (TG-DTA), Energy Dispersive X-ray Spectroscopy (EDS) and Scanning Electron Microscopy (SEM) were also employ
Even though the development of B lymphoid cells from hematopoietic stem cells is one of the most carefully investigated models of cell differentiation in adult mammalians, a set of recent findings has to a large extent increased our understanding for how B lymphoid commitment is achieved. These include the identification of IKAROS, PU.1 and E2A as transcription factors responsible for lymphoid lin
CYP3A metabolic activity varies between individuals and is therefore a possible candidate of influence on the therapeutic outcome of the tyrosine kinase inhibitor imatinib in chronic myeloid leukemia (CML) patients. The aim of this study was to investigate the influence of CYP3A metabolic activity on the plasma concentration and outcome of imatinib in CML patients.
Cripto has been known as an embryonic stem (ES)- or tumor-related soluble/cell membrane protein. In this study, we demonstrated that Cripto has a role as an important regulatory factor for hematopoietic stem cells (HSCs). Recombinant Cripto sustained the reconstitution ability of HSCs in vitro. Flow cytometry analysis uncovered that GRP78, one of the candidate receptors for Cripto, was expressed o
We present age- and gender-specific normative bone status data evaluated by quantitative ultrasound (QUS) in the calcaneus with the Lunar Achilles device and compare these estimates with bone mineral content (BMC) and bone mineral density (BMD) estimated by dual X-ray absorptiometry (DXA). Included were a sample of 518 population-based collected Swedish girls and 558 boys aged 6-19 years. QUS meas
BACKGROUND: There have been few reports on the long-term outcome of comminuted radial head fractures in adults. METHOD: 10 women and 9 men with a mean age of 45 (21-65) years when they sustained a comminuted fracture of the radial head were re-evaluated after 15-25 years. 6 patients had been nonoperatively (NO) treated while 13 had had a radial head excision. The uninjured elbow served as a contro
