| 1. |
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| 2. |
- Croona, C, et al.
(författare)
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Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes
- 1999
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Ingår i: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. - : CAMBRIDGE UNIV PRESS. ; 41:12
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Benign childhood epilepsy with centrotemporal spikes (BCECTS) is a well-known idiopathic age- and localization-related epileptic syndrome with characteristic clinical and EEG manifestations. Due to the reported benign evolution of this epilepsy syndrome,
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| 3. |
- Edebol Eeg-Olofsson, K, et al.
(författare)
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Electroencephalographic Patterns in Epilepsy.
- 2006
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Ingår i: In: Paediatric Clinical Neurophysiology, K Edebol Eeg-Olofsson, ed. Mac Keith Press, London. ; , s. 175-200
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Bokkapitel (populärvet., debatt m.m.)
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| 4. |
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| 5. |
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| 6. |
- Chioza, B., et al.
(författare)
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Evaluation of CACNA1H in European patients with childhood absence epilepsy
- 2006
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Ingår i: Epilepsy Res. - : Elsevier BV. - 0920-1211. ; 69:2, s. 177-81
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Tidskriftsartikel (refereegranskat)abstract
- CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
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| 7. |
- Everett, K. V., et al.
(författare)
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Linkage and association analysis of CACNG3 in childhood absence epilepsy
- 2007
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
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| 8. |
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| 9. |
- Lanzinger, S., et al.
(författare)
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A collaborative comparison of international pediatric diabetes registries
- 2022
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Ingår i: Pediatric Diabetes. - : Hindawi Limited. - 1399-543X .- 1399-5448. ; 23:6, s. 627-640
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Tidskriftsartikel (refereegranskat)abstract
- Background An estimated 1.1 million children and adolescents aged under 20 years have type 1 diabetes worldwide. Principal investigators from seven well-established longitudinal pediatric diabetes registries and the SWEET initiative have come together to provide an international collaborative perspective and comparison of the registries. Work Flow Information and data including registry characteristics, pediatric participant clinical characteristics, data availability and data completeness from the Australasian Diabetes Data Network (ADDN), Danish Registry of Childhood and Adolescent Diabetes (DanDiabKids), Diabetes prospective follow-up registry (DPV), Norwegian Childhood Diabetes Registry (NCDR), National Paediatric Diabetes Audit (NPDA), Swedish Childhood Diabetes Registry (Swediabkids), T1D Exchange Quality Improvement Collaborative (T1DX-QI), and the SWEET initiative was extracted up until 31 December 2020. Registry Objectives and Outcomes The seven diabetes registries and the SWEET initiative collectively show data of more than 900 centers and around 100,000 pediatric patients, the majority with type 1 diabetes. All share the common objectives of monitoring treatment and longitudinal outcomes, promoting quality improvement and equality in diabetes care and enabling clinical research. All generate regular benchmark reports. Main differences were observed in the definition of the pediatric population, the inclusion of adults, documentation of CGM metrics and collection of raw data files as well as linkage to other data sources. The open benchmarking and access to regularly updated data may prove to be the most important contribution from registries. This study describes aspects of the registries to enable future collaborations and to encourage the development of new registries where they do not exist.
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| 10. |
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| 11. |
- Prigge, R., et al.
(författare)
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International comparison of glycaemic control in people with type 1 diabetes: an update and extension
- 2022
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Ingår i: Diabetic Medicine. - : Wiley. - 0742-3071 .- 1464-5491. ; 39:5
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Tidskriftsartikel (refereegranskat)abstract
- Aims: To update and extend a previous cross-sectional international comparison of glycaemic control in people with type 1 diabetes. Methods: Data were obtained for 520,392 children and adults with type 1 diabetes from 17 population and five clinic-based data sources in countries or regions between 2016 and 2020. Median HbA1c(IQR) and proportions of individuals with HbA1c < 58mmol/mol (<7.5%), 58–74mmol/mol (7.5–8.9%) and ≥75mmol/mol (≥9.0%) were compared between populations for individuals aged <15, 15–24 and ≥25 years. Logistic regression was used to estimate the odds ratio (OR) of HbA1c < 58mmol/mol (<7.5%) relative to ≥58mmol/mol (≥7.5%), stratified and adjusted for sex, age and data source. Where possible, changes in the proportion of individuals in each HbA1c category compared to previous estimates were calculated. Results: Median HbA1c varied from 55 to 79mmol/mol (7.2 to 9.4%) across data sources and age groups so a pooled estimate was deemed inappropriate. OR (95% CI) for HbA1c< 58mmol/mol (<7.5%) were 0.91 (0.90–0.92) for women compared to men, 1.68 (1.65–1.71) for people aged <15years and 0.81 (0.79–0.82) aged15–24years compared to those aged ≥25years. Differences between populations persisted after adjusting for sex, age and data source. In general, compared to our previous analysis, the proportion of people with an HbA1c<58mmol/l (<7.5%) increased and proportions of people with HbA1c≥ 75mmol/mol (≥9.0%) decreased. Conclusions: Glycaemic control of type 1 diabetes continues to vary substantially between age groups and data sources. While some improvement over time has been observed, glycaemic control remains sub-optimal for most people with Type 1 diabetes.
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| 12. |
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| 13. |
- Brandberg, G, et al.
(författare)
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Gelastic seizures.
- 2001
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Ingår i: In: MedLink Neurology (www.medlink.com) 4th ed.
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Annan publikation (övrigt vetenskapligt/konstnärligt)
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| 14. |
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| 15. |
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| 16. |
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| 17. |
- Eeg-Olofsson, O, et al.
(författare)
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D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy
- 2000
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Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 15:7, s. 488-492
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Tidskriftsartikel (refereegranskat)abstract
- D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process. (J Child Neurol 2000;15:488-492).
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| 18. |
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| 19. |
- Eeg-Olofsson, O
(författare)
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Epilepsi
- 2004
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Ingår i: Omsorgsboken. - : Liber AB. ; , s. 93-7
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Bokkapitel (refereegranskat)
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| 20. |
- Eeg-Olofsson, O
(författare)
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Epilepsi och ärftlighet.
- 2004
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Ingår i: Svenska Epilepsia. ; 34, s. 12-3
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Tidskriftsartikel (refereegranskat)
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| 21. |
- Eeg-Olofsson, O, et al.
(författare)
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Herpesviral DNA in brain tissue from patients with temporal lobe epilepsy.
- 2004
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Ingår i: Acta neurologica Scandinavica. - : Hindawi Limited. - 0001-6314 .- 1600-0404. ; 109:3, s. 169-74
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Presence of DNA from six herpesviruses were examined in brain tissue from patients operated for temporal lobe epilepsy. MATERIAL AND METHODS: A total of 19 Canadian patients (I) with a median age of 22 years, 17 Swedish patients (II) with a median age of 14 years and a reference group comprising 12 individuals were studied. Presence of herpesviral DNA was detected by nested polymerase chain reaction. RESULTS: Of three children with Rasmussen's encephalitis, Cytomegalovirus (CMV) DNA was found in two, and human herpesvirus type 6 DNA in two. In six children with ganglioglioma, Epstein-Barr virus (EBV) was detected in four. CMV DNA was found significantly more in group I compared with II, while the reverse occurred with EBV DNA. Malformations of cortical development were found significantly more in group II compared with I. CONCLUSION: Detection of DNA from some herpesviruses in epileptic brain tissue may possibly be associated with distinct clinical conditions, but factors such as age and malformations of cortical development should also be considered.
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| 22. |
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| 23. |
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| 24. |
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| 25. |
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| 26. |
- Eeg-Olofsson, O
(författare)
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Myoclonic absences.Update from 2000.
- 2001
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Ingår i: In: MedLink Neurology. ( www.medlink.com) 2nd ed..
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Annan publikation (övrigt vetenskapligt/konstnärligt)
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| 27. |
- Eeg-Olofsson, O
(författare)
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Special aspects of developing child neurology
- 2001
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Ingår i: Proceedings of the O. Eeg-Olofsson Symposium Feb 1998. Editor: Orvar Eeg-Olofsson.
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Annan publikation (övrigt vetenskapligt/konstnärligt)
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| 28. |
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| 29. |
- Eliasson, B., et al.
(författare)
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The significance of chronic kidney disease, heart failure and cardiovascular disease for mortality in type 1 diabetes: nationwide observational study
- 2022
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- People with type 1 diabetes have a substantially increased risk of premature death. This nationwide, register-based cohort study evaluated the significance of risk factors and previous cardiovascular disease (CVD), heart failure and chronic kidney disease (CKD), for mortality in type 1 diabetes. Nationwide, longitudinal, register-based cohort study. Patients (n = 36,303) listed in the Swedish National Diabetes Register between January 1 2015 and December 31 2017 were included and followed until December 31, 2018. Data were retrieved from national health registries through each patient's unique identifier, to capture data on clinical characteristics, outcomes, or deaths, to describe mortality rates in risk groups. The mean follow-up time was 3.3 years, with 119,800 patient years of observation and 1127 deaths, corresponding to a crude overall mortality of 0.92% deaths/year. Statistically significant increased risk in multivariate analyzes was found in older age groups, in men, and in underweight or people with normal BMI, high HbA1c or blood pressure. A history of CVD, albuminuria and advanced stages of CKD was associated with an increased risk of mortality. Each combination of these conditions further increased the risk of mortality. These results emphasize the importance of risk factors and cardiovascular and renal diabetes complications. People with a combination of CKD, CVD, and heart failure, exhibit a markedly increased risk of dying prematurely. These findings provide strong arguments for optimized and individualized treatment of these groups of people with type 1 diabetes in clinical everyday life.
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| 30. |
- Fertleman, C. R., et al.
(författare)
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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)
- 2007
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 69:6, s. 586-595
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.
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| 31. |
- Freeman, JL, et al.
(författare)
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Gelastic seizures. : In: Epilepsi: A comprehensive
- 2007
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Ingår i: // In: Epilepsi: A comprehensive, Textbook, Second edition, Lippincott Williams & Wilkins, Philadelphia. ; , s. 619-23
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Bokkapitel (populärvet., debatt m.m.)
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| 32. |
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| 33. |
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| 34. |
- Hamilton, K., et al.
(författare)
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Which diabetes specific patient reported outcomes should be measured in routine care? A systematic review to inform a core outcome set for adults with Type 1 and 2 diabetes mellitus: The European Health Outcomes Observatory (H2O) programme
- 2023
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Ingår i: Patient Education and Counseling. - 0738-3991 .- 1873-5134. ; 116
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The objective was to identify candidate patient reported outcomes with potential to inform individual patient care and service development for inclusion in a digital outcome set to be collected in routine care, as part of an international project to enhance care outcomes for people with diabetes. Methods: PubMed, COSMIN and COMET databases were searched. Published studies were included if they rec-ommended patient reported outcomes that were clinically useful and/or important to people with diabetes. To aid selection decisions, recommended outcomes were considered in terms of the evidence endorsing them and their importance to people with diabetes. Results: Twenty-seven studies recommending 53 diabetes specific outcomes, and patient reported outcome measures, were included. The outcomes reflected the experience of living with diabetes (e.g. psychological well-being, symptom experience, health beliefs and stigma) and behaviours (e.g. self-management). Diabetes distress and self-management behaviours were most endorsed by the evidence. Conclusions: The review provides a comprehensive list of candidate outcomes endorsed by international evidence and informed by existing outcome sets, and suggestions for measures. Practice implications: The review offers evidence to guide clinical application. Integrated measurement of these outcomes in care settings holds enormous potential to improve provision of care and outcomes in diabetes.
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| 35. |
- Harvey, AS, et al.
(författare)
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Hypothalamic hamartoma and gelastic seizures.
- 2007
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Ingår i: In: Epilepsy: A comprehensive Textbook. Second edition, Lippincott Willians & Wilkins, Philadelphia.
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Bokkapitel (populärvet., debatt m.m.)
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| 36. |
- Laurell, Katarina, et al.
(författare)
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Headache in schoolchildren : agreement between different sources of information
- 2003
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Ingår i: Cephalalgia. - : Blackwell Publishing. - 0333-1024 .- 1468-2982. ; 23:6, s. 420-428
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Tidskriftsartikel (refereegranskat)abstract
- The level of agreement between different sources of information, i.e. questionnaires, interviews and diaries, was evaluated in a sample of 129 schoolchildren, 69 girls and 60 boys, ranging in age from 7 to 17 years. Headache diagnoses and headache features showed high agreement between questionnaires and subsequent interviews. The concordance between questionnaires and interviews for headache diagnoses increased, and the number of unclassified headaches decreased, when the International Headache Society (IHS) duration criterion was excluded. When comparing headache frequency reported in questionnaires and interviews with diary recordings, the agreement was low and the frequency higher in the diaries. Overall, the agreement between questionnaires, interviews and diaries was not related to age or gender. The questionnaire may serve as a valid source of information in studies of headache in schoolchildren. Prospective recordings in diaries provide additional information, in particular of low-intensity headache. In children, the IHS duration criterion should be modified or excluded.
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| 37. |
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| 38. |
- Laurell, Katarina, et al.
(författare)
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Prevalence of headache in Swedish schoolchildren, with a focus on tension-type headache
- 2004
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Ingår i: Cephalalgia. - : Blackwell Publishing. - 0333-1024 .- 1468-2982. ; 24:5, s. 380-388
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Tidskriftsartikel (refereegranskat)abstract
- To estimate the prevalence of tension-type headache, migraine and other headaches, 1850 schoolchildren, age 7-15 years, from the city of Uppsala, were invited to complete a questionnaire. The response rate was 74.1%. To validate the information from the questionnaires, 131 children and their parents were interviewed. Using the criteria of the International Headache Society, the 1-year prevalence of tension-type headache and migraine was 9.8 and 11.0%, respectively. However, these prevalence rates increased considerably, to 23.0 and 17.0%, respectively, when excluding the criteria defining the number of earlier episodes and duration of headache. The prevalence of headache increased with age, similarly in girls and boys up to 11 years, and thereafter only in girls. The preponderance in teenage girls was even more pronounced for tension-type headache than for migraine. Our results indicate an increase over time in headache prevalence when compared with findings in a study conducted in the same city in 1955.
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| 39. |
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| 40. |
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| 41. |
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| 42. |
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| 43. |
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| 44. |
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| 45. |
- van Hoof, M., et al.
(författare)
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Clinical Outcomes of Soft Tissue Preservation Surgery With Hydroxyapatite-Coated Abutments Compared to Traditional Percutaneous Bone Conduction Hearing Implant Surgery-A Pragmatic Multi-Center Randomized Controlled Trial
- 2020
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Ingår i: Frontiers in Surgery. - : Frontiers Media SA. - 2296-875X. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Background: Soft tissue preservation using a hydroxyapatite-coated abutment in bone conduction hearing implant surgery may lead to improved clinical outcomes over the short (1 year) and long term (3 years). Methods: In this open multi-center, randomized (1:1), controlled clinical trial, subjects with conductive, mixed hearing loss or single-sided sensorineural deafness were randomly assigned to receive the conventional intervention, a titanium abutment with soft tissue reduction surgery (control), or a new intervention, a hydroxyapatite-coated abutment with soft tissue preservation surgery (test). The primary efficacy outcome was the combined endpoint of numbness, pain, peri-abutment dermatitis, and soft tissue thickening/overgrowth after 1 and 3 years. Results: The Intention-to-treat (ITT) population consisted of 52 control subjects and 51 test subjects. The difference between the groups after 1 year of follow-up as measured by the primary efficacy outcome was not statistically significant (p = 0.12) in the ITT population (n = 103), but did reach statistical significance (p = 0.03) in the per-protocol (PP) population (n = 96). It showed an advantage for the test group, with over twice as many subjects (29%) without these medical events during the first year compared to the control group (13%). After 3 years, the difference between the two groups had declined and did not reach statistical significance (24 vs. 10%, ITT p = 0.45). Secondary outcome measures which showed a statistical significant difference during the first year, such as surgical time (15 vs. 25 minutes, p < 0.0001), numbness (90 vs. 69% of subjects experienced no numbness at 1 year, p < 0.01), neuropathic pain at 3 months (p = 0.0087) and the overall opinion of the esthetic outcome (observer POSAS scale at 3 months, p < 0.01) were favorable for the test group. More soft tissue thickening/overgrowth was observed at 3 weeks for the test group (p = 0.016). Similar results were achieved for the long term follow up. Conclusions: Soft tissue preservation with a hydroxyapatite-coated abutment leads to a reduction in the combined occurrence of complications over the first year which is not statistically significant in the ITT population but is in the PP population. This effect decreased for the long-term study follow up of 3 years and did also not reach statistical significance.
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