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Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inb
Background: Uncomplicated cystitis is one of the most common reasons for antibiotic treatment in otherwise healthy women. Nationwide studies on antibiotic treatment for this infection and in relation to factors beyond the infection itself have hitherto not been available. Methods: This was a nationwide open cohort study consisting of 352,507 women aged 15–50 years with uncomplicated cystitis (2006
Homografts have long been used for right ventricular outflow tract (RVOT) reconstruction. Tissue banks struggle to meet the clinical demand of tissue, with insufficient donor availability and strict recommendations on tissue quality with high proportions of discards. This study analyzes the long-term outcome of patients receiving a homograft with small fenestrations of the cusps or other structura
Ceramic biomaterials are promising alternatives to bone autografts. However, limited bioactivity affects their performance. Therefore, bioactive molecules and cells are often added to enhance their performance. Exosomes have emerged as cell-secreted vesicles, delivering proteins, lipids, and nucleic acids in a paracrine/endocrine fashion. We studied two complementary aspects required for exosome a
In spite of the similar structural and genomic organization of human immunodeficiency viruses type 1 and 2 (HIV-1 and HIV-2), striking differences exist between them in terms of replication dynamics and clinical manifestation of infection. Although the pathomechanism of HIV-1 infection is well characterized, relatively few data are available regarding HIV-2 viral replication and its interaction wi
Measurements of the production of electrons from heavy-flavour hadron decays in pp collisions at s = 13 TeV at midrapidity with the ALICE detector are presented down to a transverse momentum (p T) of 0.2 GeV/c and up to p T = 35 GeV/c, which is the largest momentum range probed for inclusive electron measurements in ALICE. In p-Pb collisions, the production cross section and the nuclear modificati
BACKGROUND: The outcome after weaning from postcardiotomy venoarterial extracorporeal membrane oxygenation (VA-ECMO) is poor. In this study, we investigated the prognostic impact of arterial lactate levels at the time of weaning from postcardiotomy VA.METHODS: This analysis included 338 patients from the multicenter PC-ECMO registry with available data on arterial lactate levels at weaning from VA
BACKGROUND AND PURPOSE: In patients around retirement age controversy exists as to whether to treat displaced femoral neck fracture (dFNF) with internal fixation (IF) or arthroplasty. An arthroplasty in this age group may need revision due to a long expected remaining lifetime. IF carries a higher risk of early failure but a maintained native hip if healing occurs. We aimed to determine the cumula
Background: Transcatheter closure of secundum atrial septal defect (ASD) is nowadays the main treatment option in many centers worldwide. In symptomatic infants or in those with certain comorbidities, there is a need for early intervention. Limited data are available about the procedural safety in infants below 15 kg of weight. Methods: Retrospective review of all patients referred to our center f
Purpose - This paper aims to explore the electronic design of the Touch Hand: a low-cost electrically powered prosthetic hand. The hand is equipped with an array of sensors allowing for position control and haptic sensation. Pressure sensors are used on the fingertips to detect grip force. A temperature sensor placed in the fingertip is used to measure the contact temperature of objects. Investiga
AIMS: In the era of genome-wide association studies, familial risks are used to estimate disease heritability and success in gene identification. We wanted to estimate associations of 42 autoimmune diseases with attention-deficit hyperactivity disorder (ADHD) between individuals and family members.PARTICIPANTS AND METHODS: The availability of a Multigeneration Register in Sweden provides reliable
We examined the association between self-reported consumption of fruits and vegetables and prostate cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC). Data on food consumption and complete follow-up for cancer incidence were available for 130,544 men in 7 countries recruited into EPIC between 1993 and 1999. After an average of 4.8 years of follow-up, there were
The World Health Organization (WHO) classification of myeloid leukaemia was revised in 2008. It incorporates newly recognized entities and emphasizes the pivotal role of cytogenetic abnormalities. The aim of this study was to evaluate the usability of the WHO classification when applied to a large population-based paediatric acute myeloid leukaemia (AML) cohort. We included children diagnosed with
Pelvic fractures may occur together with hip fractures as a result of low energy trauma. It is unclear whether they do require special attention. There are conflicting results in the literature about the prevalence of both concomitant hip and pelvic fractures as well as exclusive pelvic fractures. It has been reported that hip fractures and obturator ring fractures are mutually exclusive. To retro
In this study, a rapid and sensitive ultra-high performance supercritical fluid chromatography-mass spectrometry (UHPSFC-MS) method has been developed and partially validated for the separation of carotenoids within less than 6 min. Six columns of orthogonal selectivity were examined, and the best separation was obtained by using a 1-aminoanthracene (1-AA) column. The length of polyene chain as we
Background: Breathlessness is a cardinal symptom of chronic obstructive pulmonary disease (COPD). Long-term oxygen therapy (LTOT) is given to improve survival time in people with COPD and severe chronic hypoxaemia at rest. The efficacy of oxygen therapy for breathlessness and health-related quality of life (HRQOL) in people with COPD and mild or no hypoxaemia who do not meet the criteria for LTOT
Aims/hypothesis: An intronic variant (rs10830963) in MTNR1B (encoding the melatonin receptor type 2 [MT2]) has been shown to strongly associate with impaired glucose regulation and elevated type 2 diabetes prevalence. However, MTNR1B missense variants have shown conflicting results on type 2 diabetes. Thus, we aimed to gain further insights into the impact of MTNR1B coding variants on type 2 diabe
Objective: To evaluate hand and arm function and its association with motor symptoms as well as activities of daily living (ADL) in de novo Parkinson’s disease (PD).Background: Motor symptoms and disability in upper limb are common in PD and usually assessed using Unified PD Rating Scale (UPDRS). Activities, like reaching, grasping, manipulating objects, writing, dressing, and eating, may be more Objective: To evaluate hand and arm function and its association with motor symptoms as well as activities of daily living (ADL) in de novo Parkinson’s disease (PD).Background: Motor symptoms and disability in upper limb are common in PD and usually assessed using Unified PD Rating Scale (UPDRS). Activities, like reaching, grasping, manipulating objects, writing, dressing, and eating, may be more
Master thesis Excited States in 103Sn by Lars-Erik Berglund Supervisor: Prof. Claes Fahlander Department of Physics Division of Cosmic and Subatomic Physics Lund University Sölvegatan 14, 223 62 Lund February 2000 2 ABSTRACT The 103Sn nucleus has been studied using data from a EUROBALL experiment. The ex- perimental technique used was based on the detection of γ-rays in coincidence with light evap
https://www.particle-nuclear.lu.se/sites/particle-nuclear.lu.se/files/2023-12/MSc-LBe.pdf - 2026-06-20
Journal of Parkinson’s Disease 11 (2021) 515–528 DOI 10.3233/JPD-202366 IOS Press 515 Research Report Grafts Derived from an -Synuclein Triplication Patient Mediate Functional Recovery but Develop Disease-Associated Pathology in the 6-OHDA Model of Parkinson’s Disease Shelby Shrigleya,b, Fredrik Nilssona,b, Bengt Mattssona, Alessandro Fiorenzanoa,b, Janitha Mudannayakea,b, Andreas Bruzeliusa,b, Da
