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Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the dominantly inherited disorder, Bethlem myopathy. Glycine mutations that interrupt the Gly-X-Y repetitive amino acid sequence that forms the characteristic collagen triple helix have been defined in four families; however, the effects of these mutations on collagen VI biosynthesis, assembly,
OBJECTIVE: to survey the views of midwives in Estonia about who they considered should have responsibility for carrying out certain aspects of antenatal care (ANC) in Estonia. DESIGN, SETTING AND STUDY POPULATION: in collaboration with key stakeholder organisations, the authors developed eight statements on aspects of ANC and five combinations of possible professionals (including midwives obstetri
A method for simultaneous extraction and quantification Of four non-steroidal anti-inflammatory drugs (NSAIDs) based on continuous flow hollow fiber liquid-phase microextraction (CFHF-LPME) was developed. The effect of sample flow rate, acceptor flow rate, type of acceptor flow (continuous, semi-continuous or forward-backward), type of supported liquid membrane and sample volume was studied. The e
Using the polymerase chain reaction (PCR), we designed a study concept to evaluate the safety of plasma derivatives in previously treated patients who are non-infected by the specific viruses studied. Several product lots can be studied in a single patient, with a study period for each lot of 3 months. In the present study 19 patients were included for treatment with Baxter Hyland Immuno's PCR-scr
A general mathematical model for the characterization of the dynamic (kinetically labile) association of supramolecular assemblies in solution is presented. It is an extension of the equal K (EK) model by the stringent use of linear algebra to allow for the simultaneous presence of an unlimited number of different units in the resulting assemblies. It allows for the analysis of highly complex dyna
(1) We have isolated radiolabelled proteoglycans and glycosaminoglycans produced by human embryonic skin fibroblasts in the presence of (a) cycloheximide to inhibit protein synthesis or (b) brefeldin A to impede transport between the endoplasmic reticulum and the Golgi complex or (c) suramin, heparin or primaquine to interfere with internalization, recycling and degradation. Effects on glycosamino
Exercise during adolescence, especially during the pre-pubertal years, builds a skeleton with a high bone mineral density (BMD) and possibly a larger skeleton with a different skeletal architecture. This would lead to a stronger skeleton more resistant to trauma. These changes could be of biological significance for fracture reduction, if they were maintained into old age where fragility fractures
While a dominant inheritance of breast cancer (vertical inheritance) is well known, less is known about a possible recessive inheritance (horizontal inheritance). In a clinical series of 1676 breast cancer patient's family history was scored as vertical (grandmother-aunt-mother-sister-daughter) or horizontal (sister-sister) and related to histopathological tumor type, presence of germline mutation
We assessed blood pressure (BP) trends in patients with type 2 diabetes from a national diabetes register using three cross-sectional samples (aged 30-85 years) in 2005, 2007 and 2009, and in patients from 2005 followed individually until 2009. The prevalence of hypertension was 87% among all 180 369 patients in 2009, although lower in subgroups with ages 30-39, 40-49 and 50-59 years: 40%, 60% and
Summary Proteinase 3 (PR3) is a major autoantigen in anti-neutrophil cytoplasmic antibodies (ANCA)-associated systemic vasculitis (AASV), and the proportion of neutrophils expressing PR3 on their membrane (mPR3(+)) is increased in AASV. We have shown recently that mPR3 and CD177 are expressed on the same cells in healthy individuals. In this study we try to elucidate mechanisms behind the increase
Abstract Lymphoedema treatment outcome can be evaluated by calculating estimated limb volumes directly by water displacement (plethysmography; PG), or indirectly by circumference measurements (CM) and using the formula for a truncated cone. This study assessed the correlation between PG and circumference volume measurements to assess whether the correlation is acceptable, and if circumference meas
BACKGROUND: Preterm birth is the leading cause of neonatal mortality and morbidity. Early diagnosis and interventions are critical to improving the clinical outcomes of extremely premature infants. Blood protein profiling during the first months of life in preterm infants can shed light on the role of early extrauterine development and provide an increased understanding of maturation after extreme
Observations of polarization position angle (θ) standards made from 2014 to 2023 with the High Precision Polarimetric Instrument (HIPPI) and other HIPPI-class polarimeters in both hemispheres are used to investigate their variability. Multiband data were first used to thoroughly recalibrate the instrument performance by bench-marking against carefully selected literature data. A novel co-ordinate
Background: High-risk alcohol consumption among university students is well documented. Several types of intervention have proved to be effective in reducing alcohol consumption. This study examines the 2-year outcome of 2 different alcohol intervention programs at university halls of residence. Methods: Ninety-eight university halls of residence (with 556 students) were cluster randomized to 2 d
Using immunofluorescence and electron microscopy we have studied the localization of wild-type and mutant c-myc proteins transiently expressed in CV-1 cells. In agreement with our previous observations, wild-type c-myc protein accumulated in large amorphous globules in the nucleus. All mutant proteins tested accumulated in the nucleus as well, but gave rise to morphologically different inclusion b
Training and communication are essential elements in the implementation of environmental management systems (EMS). This study is based on two main questions: (i) What methods for training and communication will support the implementation of EMS at a university? and, (ii) How did faculty and staff perceive the training and communication activities? The study includes a literature review, a case stu
Can children really be psychopaths? – A qualitative study about social workers’ view on children with psychopathic traits. The purpose of this study was to investigate how children with psychopathic traits are presented by investigators and therapists in order to gain a greater understanding of the social and cultural opportunities and limitations to approaching the phenomenon of psychopathy in c
The purpose of this bachelor thesis was to study the experiences that children had growing up in poor living conditions due to their parent's substance abuse. The children included in this study are in adult age describing their childhood in relation to their parents substance abuse and the effect it had on them. The consequences both short-term and long-term, as well as the mental health of t
Purpose: The main purpose of this study is to examine how the short-term performance of European acquirers, following M&A announcements, has been affected by the COVID-19 pandemic. In addition, this study also aims to examine how diversifying M&As have been affected, and whether acquirers’ firm value demonstrated a positive relationship with CARs during the pandemic. Methodology: This stu
The aim of this essay is to investigate how common so called Baptismal Trees are in the Church of Sweden, and analyse their origin and function, as well as inquire what role the Baptismal Tree has within the Swedish Church. Usually, a Baptismal Tree is a tree, but it can also be a painting, a fishnet, or a display case visible to the congregation in a church room. Symbolic christening gifts, given
