| 1. |
- Arnell, Henrik, et al.
(författare)
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The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q
- 1997
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 34:5, s. 360-5
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Tidskriftsartikel (refereegranskat)abstract
- Primary nocturnal enuresis (PNE), or bedwetting at night, affects approximately 10% of 6 year old children. Genetic components contribute to the pathogenesis and recently one locus was assigned to chromosome 13q. We evaluated the genetic factors and the pattern of inheritance for PNE in 392 families. Dominant transmission was observed in 43% and an apparent recessive mode of inheritance was observed in 9% of the families. Among the 392 probands the ratio of males to females was 3:1 indicating sex linked or sex influenced factors. Linkage to candidate regions was tested in 16 larger families segregating for autosomal dominant PNE. A gene for PNE was excluded from chromosome 13q in 11 families, whereas linkage to the interval D13S263-D13S291 was suggested (Zmax = 2.1) in three families. Further linkage analyses excluded about 1/3 of the genome at a 10 cM resolution except the region around D12S80 on chromosome 12q that showed a positive two point lod score in six of the families (Zmax = 4.2). This locus remains suggestive because the material was not sufficiently large to give evidence for heterogeneity. Our pedigree analysis indicates that major genes are involved in a large proportion of PNE families and the linkage results suggest that such a gene is located on chromosome 12q.
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| 2. |
- Anne, R., et al.
(författare)
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Dissociation Reactions of the Be-11 One-Neutron Halo - the Interplay between Structure and Reaction-Mechanism
- 1993
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 304:1-2, s. 55-59
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Tidskriftsartikel (refereegranskat)abstract
- The angular distributions of the forward neutrons in the exclusive (Be-10 + n) channel have been measured. They can be accounted for quantitatively and without free parameters in terms of Coulomb and diffraction dissociation. The results show that the transverse momentum distributions result from an interplay between the tail of the wave function (the halo) and the reaction mechanism.
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| 3. |
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| 4. |
- Arnell, Henrik, et al.
(författare)
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Progressive familial intrahepatic cholestasis (PFIC) : evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22
- 1997
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 100:3-4, s. 378-381
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Tidskriftsartikel (refereegranskat)abstract
- Progressive familial intrahepatic cholestasis (PFIC) is the second most common form of familial intrahepatic cholestasis. The genes for PFIC and for a milder form of the disease, benign recurrent intrahepatic cholestasis (BRIC), were recently mapped to a 19-cM region on chromosome 18q21-q22. The results suggest that PFIC and BRIC are allelic diseases. We have studied 11 Swedish patients from eight families with clinical and biochemical features consistent with PFIC. The families were genotyped for markers D18S69, D18S64, D18S55 and D18S68, spanning the PFIC candidate region. Unexpectedly, the segregation of haplotypes excluded the entire region in three families, and no indications for shared haplotypes were found in the patients of the six remaining families. A four-point linkage analysis of all families excluded linkage from D18S69 to D18S55 (Zmax < -5). Thus, our data strongly suggest the presence of a second, yet unknown, locus for PFIC. The results indicate that great care should be taken when using 18q markers for prenatal diagnosis and genetic counseling for the disease.
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| 5. |
- Barker, G. M., et al.
(författare)
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Distal shunt obstruction in children with meningomyelocele after bladder perforation
- 2006
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Ingår i: Journal of Urology. - : Ovid Technologies (Wolters Kluwer Health). - 0022-5347 .- 1527-3792. ; 176:4 Pt 2, s. 1726-1728
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: We studied short-term complications and particularly the signs of shunt dysfunction after augmented bladder perforation in patients with myelomeningocele and ventriculoperitoneal shunts. MATERIALS AND METHODS: In our series of bladder augmentations in 27 patients with myelomeningocele and a ventriculoperitoneal shunt in the last 10 years (1994 to 2004) we noted 4 who were 8 to 16 years old at our institute with bladder perforation 2 to 5 years after augmentation. Three patients received a colonic augmentation and 1 received an ileal augmentation. One patient underwent surgery for small bowel obstruction 2 years after the primary operation, when a hole in the augmented bladder was identified and oversewn. The other 3 bladder perforations occurred spontaneously or after failure to catheterize. An additional patient with spontaneous perforation underwent auto-augmentation elsewhere. RESULTS: After primary open abdominal surgery and enterocystoplasty there was no sign of shunt dysfunction in any patient. Bladder perforation and leakage of free urine into the abdominal cavity occurred in 4 of the 5 patients. In those patients severe symptoms of shunt dysfunction, including headache and high intracranial pressure, were noted 2 to 7 days after perforation. In patient 1 there was only urine leakage into a small cavity close to the bladder and no acute signs of post-perforation shunt dysfunction. In all cases the shunt was externalized for 1 to 6 weeks without further complications. CONCLUSIONS: In patients with myelodysplasia who have bladder perforation and free urine in the abdominal cavity the peritoneum is chemically inflamed by urine. Resorption of cerebral liquor may be disturbed, leading to shunt dysfunction and high intracranial pressure. Therefore, it is important for the urologist to recognize and evaluate postoperative signs and symptoms of increased intracerebral pressure in patients with bladder perforation. If found, early computerized tomography of the brain is recommended.
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| 6. |
- Forner, L. E., et al.
(författare)
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Hyperbaric oxygen treatment of mandibular osteoradionecrosis: Combined data from the two randomized clinical trials DAHANCA-21 and NWHHT2009-1
- 2022
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Ingår i: Radiotherapy and Oncology. - : Elsevier BV. - 0167-8140. ; 166, s. 137-144
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Osteoradionecrosis (ORN) of the mandible is a serious complication of head and neck radiotherapy. This study aims to investigate the effect of hyperbaric oxygen (HBO) treatment on ORN in two randomized, controlled multicentre trials. Methods and materials: Patients with ORN with indication for surgical treatment were randomised to either group 1: surgical removal of necrotic mandibular bone supplemented by 30 pre- and 10 postoperative HBO exposures at 243 kPa for 90 min each, or group 2: surgical removal of necrotic bone only. Primary outcome was healing of ORN one year after surgery evaluated by a clinically adjusted version of the Common Toxicity Criteria of Adverse Events (CTCAE) v 3.0. Secondary outcomes included xerostomia, unstimulated and stimulated whole salivation rates, trismus, dysphagia, pain, Activities of Daily Living (ADL) and quality of life according to EORTC. Data were combined from two separate trials. Ninety-seven were enrolled and 65 were eligible for the intent-to-treat analysis. The 33% drop-out was equally distributed between groups. Results: In group 1, 70% (21/30) healed compared to 51% (18/35) in group 2. HBO was associated with an increased chance of healing independent of baseline ORN grade or smoking status as well as improved xerostomia, unstimulated whole salivary flow rate, and dysphagia. Due to insufficient recruitment, none of the endpoints reached a statistically significant difference between groups. ADL data could only be obtained from 50 patients. Conclusion: Hyperbaric oxygen did not significantly improve the healing outcome of osteoradionecrosis after surgical removal of necrotic bone as compared to standard care (70% vs. 51%). This effect is not statistically significant due to the fact that the study was underpowered and is therefore prone to type II error. © 2021 The Authors
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| 7. |
- Grennfelt, Peringe, et al.
(författare)
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Towards robust European air pollution policies : constrains and prospects for a wider dialogue between scientists, experts, decision-makers and citizens : a workshop report
- 2006
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The international regulation of transboundary air pollution in Europe is often considered a success story. The success is usually explained by a close relationship between scientists and policy makers. When looking into other international environmental areas (e.g. climate change, marine pollution), there have generally been larger obstacles in the science-policy relationships. Social scientists have for many years studied the international policy development processes for air pollution and pointed to certain factors of importance in for its success. There have however seldom been opportunities for social scientists, policy makers and scientists to discuss together the interrelations between science and policy in the area.In order to further evaluate the science policy interactions and discuss possibilities for social scientists to play a role in the further development of air pollution strategies a workshop was organised in Gothenburg, Sweden 5-7 October 2005. The workshop was organised by the Swedish ASTA programme and the EU Network of Excellence ACCENT in collaboration with the Convention on Long-Range Transboundary Air Pollution and the EU CAFE initiative. Approximately 35 participants from 12 countries representing Europe, North America and Japan attended at the workshop. This report compiles the outcome of the workshop. The report is also available at http://asta.ivl.se/
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| 8. |
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| 9. |
- Henriksen, Egil, et al.
(författare)
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An echocardiographic study comparing male Swedish elite orienteers with other elite endurance athletes
- 1997
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Ingår i: American Journal of Cardiology. - 0002-9149 .- 1879-1913. ; 79:4, s. 521-524
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Tidskriftsartikel (refereegranskat)abstract
- Between 1979 and 1992, there were 16 known cases of sudden unexpected cardiac death among young Swedish orienteers, whose autopsies showed myocarditis to be a common finding. Therefore, 96 elite orienteers and 47 controls underwent echocardiography, showing left ventricular wall motion abnormalities in 9% of the orienteers compared with 4% in the controls.
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| 10. |
- Henriksen, Egil, et al.
(författare)
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Echocardiographic right and left ventricular measurements in male elite endurance athletes
- 1996
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Ingår i: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 17:7, s. 1121-1128
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Tidskriftsartikel (refereegranskat)abstract
- Echocardiography was used to assess normal values in the right and left ventricular cavity and wall in 127 male elite endurance athletes. M-mode and two dimensional measurements of left ventricle and left and right atria were also obtained. All subjects were high-performance orienteers, cross-country skiers and middle-distance runners. They all had a normal electrocardiogram at rest and no echocardiographic evidence of heart disease. With the use of multiple right ventricular cross-sections and two-dimensional measurements, we found a significantly greater right ventricular inflow tract and right and left atrial measurements in endurance athletes compared with earlier studies of normal, active subjects. The right ventricular free wall was slightly thicker than reported in normal active subjects but the differences were small. Left ventricular diastolic diameter was consistent with previous reports of endurance athletes. Of the 127 subjects, 13% had left ventricular wall thickness above 13 mm but none of the athletes had wall thickness above 15 mm. These data suggest that cardiac enlargement occurs symmetrically in both right and left cavities, probably reflecting increased haemodynamic loading, a mechanism by which athletes sustain a high cardiac output during exercise.
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