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OBJECTIVE: Identification of the causal mutation in an African-American family with adult-onset primary dystonia. BACKGROUND: The vast majority of patients with dystonia are adults with primary focal or segmental anatomical distributions. Familial and sporadic dystonia appear to share the same genetic etiological background. Although approximately 10% of probands have at least one first- or second
OBJECTIVE:: Arterial stiffening increases with age and is associated with increased cardiovascular risk. Several risk factors have been shown to predict the development of arterial stiffening; however, a positive family history (FH+) of cardiometabolic disease (CMD) and hypertension has not been extensively studied. We hypothesize that FH+ of CMD plays a significant role in the development of arte
Growth conditions on acid soils may be hampered by low nutrient availability and phytotoxic Al (aluminium) concentrations. In this thesis I present my studies on adaptation mechanisms of wild plants to acid soils in the close root environment, the rhizosphere. The studies showed that plants have developed several mechanisms that may work simultaneously to face the complex soil chemistry. A first g
Asymmetrisk katalys har under de senaste decennierna utvecklats kraftigt. År 2001 delade Knowles, Noyori och Sharpless Nobelpriset i kemi för sina banbrytande bidrag inom just detta område. Utmaningen idag är att utveckla nya metoder inom asymmetrisk katalys som även tar hänsyn till vår växande miljöpåfrestning. Nästan alla av dagens kirala katalysatorer är utvecklade för syntes i organiska lösnin
Several recent international publications (e.g. Platzack 1996, 2001; Håkansson, Pienemann & Sayehli 2002; Pienemann 1998; Pienemann & Håkansson 1999) have claimed that learners take the same developmental route in the acquisition of syntax of a second or foreign language, irrespective of their first language (L1). Targetlike verb placement in a Germanic V2 language like German, Dutch or Sw
DNA-dependent protein kinase (DNA-PK) has been shown to take part in cell cycle regulatory signal transduction and in the repair of X-ray-induced DNA double-strand breaks. Functional DNA-PK is furthermore needed for the generation of antigen specificity during lymphocyte maturation. The Ku86 subunit of DNA-PK has been reported to exist in human B lymphocytes in a truncated form capable of binding
BACKGROUND: An increasing incidence of penicillin-resistant Streptococcus pneumoniae (PRP) was detected in Malmo in 1994. OBJECTIVE: To evaluate clonality and factors facilitating the spread of PRP among children in day-care centers (DCCs). METHODS: We used phenotypic and DNA-fingerprinting methods in conjunction with epidemiologic data from the South Swedish Pneumococcal Intervention Project's in
Objective To investigate the prevalence of and factors associated with overactive bladder in middle-aged women. Design Cross sectional population-based study. Setting Southern Sweden and the Women's Health in the Lund Area study (WHILA 1995-2000) where 6917 (64% of the invited) women, 50-59 years old in 1995, participated. Population From the WHILA study, 1500 women reporting troublesome urinar
Popular Abstract in Swedish När en människa möter döden i sin närhet gör sig ofta grundläggande frågor kring livet och döden påminda. I sådana situationer söker många människor sig till kyrkan för att ta avsked av sina anhöriga. Begravningsgudstjänsten är ett av de starkaste banden mellan svenska folket och Svenska kyrkan. I ”Gå vi till paradis med sång” studeras förutsättningar för ett möThe purpose of this thesis is to shed light upon the function of hymns in Church of Sweden funeral services in the 1990s. The funeral service is one of the strongest links between the Swedish people and the Church of Sweden. Since this service can be seen as an essential meeting-place between people and their needs in a mourning process and the Church and its message of faith in this situation, th
Background: Patients with atrial fibrillation (AF) have an increased dementia risk dementia. We aimed to study the effect of antihypertensive drugs on dementia in AF patients. Methods: Included patients were ≥45 years diagnosed with AF in Swedish National Patient Register (n = 160,251; 89,723 men and 70,528 women) and alive on January 1, 2007. We excluded patients with dementia before onset of AF.
Agricultural land use results in multiple stressors affecting stream ecosystems. Flow reduction due to water abstraction, elevated levels of nutrients and chemical contaminants are common agricultural stressors worldwide. Concurrently, stream ecosystems are also increasingly affected by climate change. Interactions among multiple co-occurring stressors result in biological responses that cannot be
Introduction: Long QT syndrome (LQTS) mutation carriers have elevated the risk of cardiac events even in the absence of QTc prolongation; however, mutation penetrance in patients with normal QTc may be reflected in abnormal T-wave shape, particularly in KCNH2 mutation carriers. We aimed to assess whether the magnitude of a three-dimensional T-wave vector (TwVM) will identify KCNH2-mutation carrier
This paper presents the first attempt to assess the wastewater treatment processes at the oil refinery sector in Kazakhstan and evaluate to what extent these processes follow international and national regulations regarding industrial waste water treatment. The assessment was performed considering wastewater discharge from refining processes at three factories in the country. While Kazakhstani env
PURPOSE: In the ENGOT-OV16/NOVA trial (ClinicalTrials.gov identifier: NCT01847274), maintenance therapy with niraparib, a poly(ADP-ribose) polymerase inhibitor, prolonged progression-free survival in patients with platinum-sensitive, recurrent ovarian cancer who had a response to their last platinum-based chemotherapy. The objective of the study was to assess the clinical benefit and patient-repor
Introduction: Vasovagal reflex is the most common type of syncope but its etiology is not fully elucidated. Venous return and cardiac output are key in hemodynamic control. The aim of the study was to assess cardiovascular biomarkers and echocardiographic measures at rest and during hypovolemia in women with and without a history of vasovagal syncope. Methods: Fourteen women (aged 18-30) suffering
Purpose: Gene therapy for RPE65 retinopathy has been recently approved. The purpose of this study was to assess retinal structure and function in 3 siblings presenting with late-stage RPE65 retinopathy and to assess the unmet need for such therapy in Saudi Arabia. Methods: Search of the retinal dystrophy registry at King Khaled Eye Specialist Hospital and clinical examination including multimodal
Purpose: We aimed to study the association between country of birth and incident epilepsy in several immigrant groups using Swedish-born individuals as referents. Method: The study population included all adults aged 18 years and older in Sweden, living and deceased, 6,690,598 in the first-generation and 6,683,125 in the second-generation sub-study. Epilepsy was defined as having at least one regi
Previous studies indicate that the sound environments normally present at hospitals in general and intensive care units in particular, may pose a risk for prolonged patient recovery and for the personnel, disruption of concentration, increased tiredness and possibly more errors. As part of a larger study of the effects of the sound environment in intensive care units (ICU), personnel response was
This work deals with analysis and modelling of the radionuclides 210Pb and210Po in the food-chain lichen-reindeer-man in addition to 210Po and 137Cs in top predators. By using the methods of Partial Least Square Regression (PLSR) the atmospheric deposition of 210Pb and 210Po is predicted at the sample locations. Dynamic modelling of the activity concentration with differential equations is fitted
