| 1. |
- Horn, M. A., et al.
(författare)
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Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
- 2013
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Ingår i: Clinical Endocrinology. - : Wiley. - 0300-0664. ; 79:3, s. 316-320
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Tidskriftsartikel (refereegranskat)abstract
- ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Study designAmong 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. ResultsEighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 15% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. ConclusionsWe found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids.
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| 2. |
- Nordsletten, L, et al.
(författare)
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Muscle contraction increases the in vivo structural strength to the same degree in osteopenic and normal rat tibiae
- 1994
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Ingår i: Journal of Bone and Mineral Research. - 1523-4681. ; 9:5, s. 679-685
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Tidskriftsartikel (refereegranskat)abstract
- The increase in structural capacity due to muscle contraction in the lower leg was investigated in osteopenic and normal rats. Osteopenia was induced by ovariectomy combined with a low-calcium diet (0.01%). The control rats were sham operated and fed a diet containing 1.1% calcium. After 7 weeks the right lower leg of all animals were fractured in three-point ventral cantilever bending during muscle contraction induced by electrical stimulation of the ischiatic nerve. The left tibiae were resected and fractured as each animal's control. During muscle contraction in vivo, the ultimate bending moment, energy absorption, bending stiffness, and deflection were significantly lower in the osteopenic than in the sham-operated animals. However, the increase in mechanical parameters due to muscle contraction comparing the in vivo and resected tibiae in each animal were equally high in the osteopenic and sham-operated animals. Ultimate bending moment in the resected tibiae was 10% higher in the sham-operated animals compared with the ovariectomized, proving mechanically weaker tibiae in the osteopenic rats. In accordance with this, the medullary area of the osteopenic rats was 46% larger in the distal tibial diaphysis, and the ultimate stress the tibiae could withstand was 15% lower in the osteopenic compared with the sham-operated rats. The trabecular bone volume in the distal tibial metaphysis of the osteopenic rats was reduced by 70% compared with the sham operated. This study shows that muscle protection against fracture can be substantial in osteopenic tibia and that it is of the same magnitude as in rats with normal bone mass.
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| 3. |
- Bakken, K. S., et al.
(författare)
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Higher risk for adverse obstetric outcomes among immigrants of African and Asian Descent: A comparison study at a low-risk maternity hospital in Norway
- 2015
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Ingår i: Birth. - : Wiley. - 0730-7659 .- 1523-536X. ; 42:2, s. 132-140
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Tidskriftsartikel (refereegranskat)abstract
- Background: Immigrants have higher risks for some adverse obstetric outcomes, and 40 percent of women giving birth at the low-risk maternity ward in Baerum Hospital, Norway, are immigrants. This study compared obstetric outcomes between immigrants and ethnic Norwegians giving birth in a low-risk setting. Methods: This was a population-based study linking the Medical Birth Registry of Norway to Statistics Norway. The study included the first registered birth during the study period to immigrant and ethnic Norwegian women at Baerum Hospital from 2006 to 2010. The main outcome measures were onset of labor, operative vaginal delivery, cesarean delivery, episiotomy, postpartum bleeding >500mL, epidural analgesia, labor dystocia, gestational age, meconium-stained liquor, 5-minute Apgar score, birthweight, and transfer to a neonatal intensive care unit. Results: A total of 11,540 women originating from 141 countries were divided into seven groups. Compared with Norwegians, women from East, Southeast, and Central Asia had increased risk for operative vaginal delivery, postpartum bleeding, and low Apgar score. The African women had increased risk for postterm birth, meconium-stained liquor, episiotomy, operative vaginal delivery, emergency cesarean delivery, postpartum bleeding, low Apgar score, and low birthweight. Women from South and Western Asia had increased risk for low birthweight. Conclusion: Obstetric outcomes of immigrants differ significantly from those of Norwegians, even in a low-risk maternity unit. Thus, immigrant women would benefit from more targeted care during pregnancy and childbirth, even in low-risk settings. © 2015 Wiley Periodicals, Inc.
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| 4. |
- Bakken, K. S., et al.
(författare)
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Immigrants from conflict-zone countries: an observational comparison study of obstetric outcomes in a low-risk maternity ward in Norway
- 2015
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Ingår i: Bmc Pregnancy and Childbirth. - : Springer Science and Business Media LLC. - 1471-2393. ; 15
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Tidskriftsartikel (refereegranskat)abstract
- Background: Immigrants have higher risks for some adverse obstetric outcomes. Furthermore, refugees are reported to be the most vulnerable group. This study compared obstetric outcomes between immigrant women originating from conflict-zone countries and ethnic Norwegians who gave birth in a low-risk setting. Methods: This was a population-based study linking the Medical Birth Registry of Norway to Statistics Norway. The study included the first registered birth during the study period of women from Somalia (n = 278), Iraq (n = 166), Afghanistan (n = 71), and Kosovo (n = 67) and ethnic Norwegians (n = 6826) at Baerum Hospital from 2006-2010. Background characteristics and obstetric outcomes of each immigrant group were compared with ethnic Norwegians with respect to proportions and risks calculated by logistic regression models. Results: In total, 7408 women and their births were analyzed. Women from Somalia were most at risk for adverse obstetric outcomes. Compared with ethnic Norwegians, they had increased odds ratios (OR) for emergency cesarean section (OR 1.81, CI 1.17-2.80), postterm birth (OR 1.93, CI 1.29-2.90), meconium-stained liquor (OR 2.39, CI 1.76-3.25), and having a small-for-gestational-age infant (OR 3.97, CI 2.73-5.77). They had a reduced OR for having epidural analgesia (OR 0.40, CI 0.28-0.56) and a large-for-gestational-age infant (OR 0.32, CI 0.16-0.64). Women from Iraq and Afghanistan had increased risk of having a small-for-gestational-age infant with OR of 2.21 (CI 1.36-3.60) and 2.77 (CI 1.42-5.39), respectively. Iraqi women also had reduced odds ratio of having a large-for-gestational-age infant (OR 0.35, CI 0.15-0.83). Women from Kosovo did not differ from ethnic Norwegians in any of the outcomes we tested. Conclusions: Even in our low-risk maternity ward, women originating from Somalia were at the greatest risk for adverse obstetric outcomes in the compared groups. We could not find the same risk among the other immigrant women, also originating from conflict-zone countries. Several factors may influence these findings, and this study suggests that immigrant women from Somalia need more targeted care during pregnancy and childbirth.
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| 5. |
- Bakken, Kjersti S., et al.
(författare)
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Obstetric Outcomes of First- and Second-Generation Pakistani Immigrants: A Comparison Study at a Low-Risk Maternity Ward in Norway
- 2017
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Ingår i: Journal of Immigrant and Minority Health. - : Springer Science and Business Media LLC. - 1557-1912 .- 1557-1920. ; 19, s. 33-40
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Tidskriftsartikel (refereegranskat)abstract
- © 2015, Springer Science+Business Media New York. This population-based study compares obstetric outcomes of first- and second-generation Pakistani immigrants and ethnic Norwegians who gave birth at the low-risk maternity ward in Baerum Hospital in Norway from 2006 to 2013. We hypothesized that second-generation Pakistani immigrants are more similar to the ethnic Norwegians because of increased acculturation. Outcome measures were labor onset, epidural analgesia, labor dystocia, episiotomy, vaginal/operative delivery, postpartum hemorrhage, preterm birth, birth weight, transfer to a neonatal intensive care unit, and neonatal jaundice. Compared to first-generation Pakistani immigrants, the second-generation reported more health issues before pregnancy, and they had a higher proportion of preterm births compared to Norwegians. Newborns of first-generation immigrants were more often transferred to a neonatal intensive care compared to Norwegian newborns. Few intergenerational differences in the obstetric outcomes were found between the two generations. A high prevalence of consanguinity in second-generation immigrants suggests the maintenance of a traditional Pakistani marriage pattern.
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| 7. |
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| 8. |
- Henriksen, M. W., et al.
(författare)
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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
- 2018
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Ingår i: Bmc Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may account for the majority of these cases. Case presentation: We describe two females who fulfill the diagnostic criteria for classic RTT, with pathogenic de novo mutations in SCN1A, which usually leads to Dravet syndrome. The developmental history and clinical features of these two females fits well with RTT, but they do have an unusual epileptic profile with early onset of seizures. Investigation of mRNA from one of the females showed a significantly reduced level of MECP2 mRNA. Conclusions: To our knowledge, this is the first report suggesting that SCN1A mutations could account for a proportion of the females with classic RTT without MECP2 mutations. As a consequence of these findings SCN1A should be considered in the molecular routine screening in MECP2-negative individuals with RTT and early onset epilepsy.
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| 9. |
- Henriksen, M. W., et al.
(författare)
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Epilepsy in classic Rett syndrome: Course and characteristics in adult age
- 2018
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211. ; 145, s. 134-139
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects females. Epilepsy is a major clinical feature, but its long-term course in RTT has not been sufficiently explored. This study addresses the development of the epilepsy in adults with KIT. Methods: Available females diagnosed with RTT in Norway were asked to participate. Parents/caregivers were interviewed, the girls/women were examined and their medical records reviewed. Participants were categorized according to age, epilepsy, seizure patterns and mutation severity groups. RTT severity was assessed (epilepsy score excluded). Results: 70 females with classic RTT were included. A presumed pathogenic mutation in MECP2 was found in 96%. The presence of active epilepsy (seizures last five years) was similar in all age groups above the age of ten: 11 (65%) in adolescents (11-20 years), 9 (60%) in young adults (21-30 years) and 14 (67%) in participants above 30 years of age. Tonic-clonic seizures within the last year were present in 55, 67 and 64%, and >= weekly seizures occurred in 27, 45 and 50% in the respective age groups. Among participants with active epilepsy, 69% had unremitting seizures, whereas 31% had experienced remissions for more than six months during the last five years. In the oldest group ( > 30 years), only 19% had obtained seizure control for > 5 years, and 14% had never experienced seizures. Seizure activity correlated with RTT severity score, whereas the relationship to mutation type remained ambiguous. Conclusion: Epilepsy continues to be a major concern in adults with RTT. Two thirds of women above 30 years of age remained with active epilepsy and 50% of them had seizures at least weekly.
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| 10. |
- Henriksen, M. W., et al.
(författare)
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Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
- 2020
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Ingår i: Brain & Development. - : Elsevier BV. - 0387-7604. ; 42:7, s. 484-495
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Tidskriftsartikel (refereegranskat)abstract
- Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. Methods: All available females diagnosed with RTT in Norway were invited to the study. Parents were interviewed, the girl or woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the current diagnostic criteria and exome-based sequencing analyses were performed in individuals without an identified causative mutation. Participants were categorized according to genotypes and RTT diagnosis. Individuals with RTT with and without mutations in MECP2 were compared. Results: Ninety-one individuals were included. A presumed causative mutation was identified in 86 individuals, of these, mutations in MECP2 in 77 individuals and mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1 or chromosome 13q in nine. Seventy-two individuals fulfilled the diagnostic criteria for classic and 12 for atypical RTT. Significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy were revealed in individuals with RTT according to their MECP2 genotypic status. Conclusion: Using the current diagnostic criteria, genetic and clinical variation in RTT is considerable. Significant differences between individuals with RTT with and without MECP2 mutations indicate that MECP2 is a major determinant for the clinical phenotype in individuals with RTT. (C) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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