| 1. |
- Berntsson, Tommy, et al.
(författare)
-
Ambulanssjukvården måste bli jämlik
- 2013
-
Ingår i: Helsingborgs Dagblad. - Helsingborg : Helsingborgs Dagblad. - 1103-9388. ; 2013-06-17
-
Tidskriftsartikel (populärvet., debatt m.m.)abstract
- Skiftande vårdkvalité hotar patientsäkerheten inom ambulanssjukvården. Nu måste regeringen och Socialstyrelsen skapa nationella riktlinjer, skriver Nätverket för utbildning av ambulanssjuksköterskor .
|
|
| 2. |
|
|
| 3. |
- Bremer, Anna, et al.
(författare)
-
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
- 2011
-
Ingår i: American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841. ; 156B156:2, s. 115-124
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P=0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs
|
|
| 4. |
- Bremer, Anna, et al.
(författare)
-
Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
- 2010
-
Ingår i: American journal of medical genetics. Part B, Neuropsychiatric genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 153B:1, s. 280-285
-
Tidskriftsartikel (refereegranskat)abstract
- The autism spectrum disorder (ASD) is a heterogenous condition characterized by impaired socialization and communication in association with stereotypic behaviors. ASD is highly heritable and heterogeneous with a complex genetic etiology. Recurrent submicroscopic deletions or duplications have been identified in a subgroup of individuals with ASD using array technology. Adequate genetic testing for these genomic imbalances have not yet been widely implemented in the diagnostic setting due to lack of feasible and cost-effective methods as well as difficulties to interpret the clinical significance of these small copy number variants (CNVs). We developed a multiplex ligation-dependent probe amplification (MLPA) assay to investigate its usefulness for detection of copy number alterations (CNAs) in autistic patients. This test proved to be easy to perform, fast, cost-effective, and suitable for reliable detection of multiple loci in a single reaction. We screened 148 autistic patients for 15 different loci covering 26 genes and found a 15q11-13 interstitial duplication that had escaped detection by conventional karyotyping in 1.3% of the patients. Synthetic probe MLPA allows for a flexible analysis of a continuously increasing number of CNAs associated with autism. Our result show that MLPA assay is an easy and cost-effective method for the identification of selected CNAs in diagnostic laboratories. (C) 2009 Wiley-Liss, Inc.
|
|
| 5. |
- Bremer, Anna
(författare)
-
Unraveling genetic mechanisms in autism spectrum disorders
- 2011
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. Numerous candidate genes have been suggested by linkage, association and candidate gene studies and recurrent submicroscopic deletions and duplications have been identified using array technology. In order to screen for deletions and duplications in ASD candidate genes and regions, we developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay (paper I). Screening of 26 genes in 148 individuals we found a 15q11-13 interstitial duplication, which had escaped detection by conventional karyotyping, in 1.3% of the patients. Synthetic MLPA showed to be an easy, reliable and cost-effective method for the identification of Copy Number Variants (CNVs) in selected candidate regions. In order to screen the whole genome for CNVs in ASD patients and identify alterations associated with susceptibility for ASDs we used high resolution array-based comparative genomic hybridization (array-CGH). In 4-year-old girl we identified a 7.1 Mb interstitial deletion of chromosome band 6p22.3 (paper II). The patient had cognitive delay, specific language impairments and dysmorphic features. The deletion overlapped with six previously reported cases with a 6p22–24 interstitial deletion. Developmental delay was present in all cases, while heart defects, short neck and/or redundant skin folds, eye abnormalities, and ear anomalies were present in the majority of cases. By our finding we could narrow down the critical region for the 6p22 deletion phenotype to 2.2 Mb comprising twelve genes including the ATXN1 gene previously reported susceptibility gene for learning difficulties. In the whole genome screening of 223 ASD patients by array-CGH (paper III), clinically significant CNVs were identified in 18 individuals (8%) and CNVs of unclear clinical relevance in 20 individuals (9%). Among the latter cases, 13 individuals carried rare inherited CNVs, while parental samples were unavailable in the remaining seven cases. All patients were classified into different phenotype and inheritance subgroups. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD related neuropsychiatric phenotype in comparison with cases without reported heredity (P=0.0096). We concluded that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for ASDs and related neuropsychiatric disorders. In 514 ASD patients screened by array-CGH (paper IV), an exonic PARK2 deletion was found in three cases (~0.6%). No such deletion was identified in 149 control subjects. In a summary of comparable CNVs reported in the Database of Genomic Variants (DGV), 9/5141 controls had a deletion within the PARK2 gene (~0.2%). Compared with the DGV controls, deletions in the PARK2 gene were significantly more common in our ASD patient cohort (p=0.019). PARK2 deletions have previously been reported in autism and our results further support that PARK2 deletions may be a risk factor for the development of ASDs. PARK2 encodes for the E3 ubiquitin-protein ligase Parkin, which belongs to the Ubiquitin proteasome system (UPS). UPS operate pre- and postsynaptic compartments demonstrating a direct link between these two major systems that may be important in the pathophysiology of autism. The future challenge will be to, in combination with the increased usage of high resolution array-CGH and whole genome sequencing identifying genetic alterations, create useful analysis systems in which the co-occurring pathways and gene-gene interactions in ASDs can be linked together and the different genes involved identified.
|
|
| 6. |
- Bremer, Anders, 1957-
(författare)
-
Vid existensens gräns : Etiskt vårdande och professionellt ansvar vid hjärtstopp utanför sjukhus
- 2012
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Aim: To describe and interpret patients’, family members’ and ambulance personnel’s experiences with regard to survival, attendance, and caring at cardiac arrests and deaths, and to analyze ethical conflicts that arise in relation to families and how the personnel’s ethical competence can affect caring and the ability to handle ethical problems.Method: The three interview studies were guided by a reflective lifeworld approach grounded in phenomenology and analyzed by searching for the essence of the phenomenon in two studies and by attaining a main interpretation in one study. In the fourth study, the general approach was supplemented by “reflective equilibrium” that guided the ethical analysis.Results: The survivors are striving towards a good life by means of efforts to reach meaning and coherence, facing existential fear and insecurity as well as gratitude and the joy of life. Family members lose everyday control through feelings of unreality, inadequacy and overwhelming responsibility. Ambulance personnel’s care mediates hope and despair until the announcement of survival or death. After the event, family members risk involuntary loneliness and anxiety about the future. For the ambulance personnel, caring for families involves a need for mobility in decision making, forcing the personnel to balance their own perceptions, feelings and reactions against interpretative reasoning. To base decision making on emotional reactions creates the risk of erroneous conclusions and a care relationship with elements of dishonesty, misdirected benevolence and false hopes. Identification with family members can promote recognition of and response to their existential needs, but also frustrate meeting family members emotions’ and handling one’s own vulnerability and inadequacy. It was found that futile cardiopulmonary resuscitation, administered to patients for the benefit of family members, is not an acceptable moral practice, due both to norms of not deliberately treating persons as mere means and to norms of taking care of families.Conclusions: Ethical conflicts exist when it comes to conveying realistic hope, relief from guilt, participation, responsibility for decision making, and fairness in the professional role. Ambulance personnel need support to enhance ethical caring competence and to deal with personal discomfort, as well as clear guidelines on family support.
|
|
| 7. |
- Jonsson, Lina, 1982, et al.
(författare)
-
Mutation screening of melatonin-related genes in patients with autism spectrum disorders.
- 2010
-
Ingår i: BMC medical genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 3
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: One consistent finding in autism spectrum disorders (ASD) is a decreased level of the pineal gland hormone melatonin and it has recently been demonstrated that this decrease to a large extent is due to low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin synthesis pathway. Moreover, mutations in the ASMT gene have been identified, including a splice site mutation, that were associated with low ASMT activity and melatonin secretion, suggesting that the low ASMT activity observed in autism is, at least partly, due to variation within the ASMT gene. METHODS: In the present study, we have investigated all the genes involved in the melatonin pathway by mutation screening of AA-NAT (arylalkylamine N-acetyltransferase), ASMT, MTNR1A, MTNR1B (melatonin receptor 1A and 1B) and GPR50 (G protein-coupled receptor 50), encoding both synthesis enzymes and the three main receptors of melatonin, in 109 patients with autism spectrum disorders (ASD). A cohort of 188 subjects from the general population was used as a comparison group and was genotyped for the variants identified in the patient sample. RESULTS: Several rare variants were identified in patients with ASD, including the previously reported splice site mutation in ASMT (IVS5+2T>C). Of the variants affecting protein sequence, only the V124I in the MTNR1B gene was absent in our comparison group. However, mutations were found in upstream regulatory regions in three of the genes investigated, ASMT, MTNR1A, and MTNR1B. CONCLUSIONS: Our report of another ASD patient carrying the splice site mutation IVS5+2T>C, in ASMT further supports an involvement of this gene in autism. Moreover, our results also suggest that other melatonin related genes might be interesting candidates for further investigation in the search for genes involved in autism spectrum disorders and related neurobehavioral phenotypes. However, further studies of the novel variants identified in this study are warranted to shed light on their potential role in the pathophysiology of these disorders.
|
|
| 8. |
- Olsén, Lena, et al.
(författare)
-
Intramuscular administration of sodium benzylpenicillin in horses as an alternative to procaine benzylpenicillin
- 2013
-
Ingår i: Research in Veterinary Science. - : Elsevier BV. - 0034-5288 .- 1532-2661. ; 95:1, s. 212-218
-
Tidskriftsartikel (refereegranskat)abstract
- The aim was to supply information about the possibility of replacing the procaine salt with the sodium salt for benzylpenicillin IM treatment in horse in order to diminish the risk for procaine adverse effects. In a crossover study eight horses were given 15 mg/kg sodium benzylpenicillin (Na-pc) twice daily or procaine benzylpenicillin (control) once daily IM for four days. The half-life of Na-pc was 1.9 h, peak concentration was 14,600 ng/mL reached after about 23 min. Trough plasma concentration Was 281 ng/mL and protein binding 62.8%. The fT > MIC for Staphylococcus aureus was 63% and 100% for Streptococcus equi subsp. equi and Streptococcus zooepidemicus, indicating an adequate antimicrobial therapy. However, Na-pc cannot be recommended from a welfare point of view since the horses showed more pain related behaviour and more pain and swelling compared to the control treatment.
|
|
| 9. |
|
|
