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- Nordenström, Anna, et al.
(author)
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Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study
- 2016
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In: Clinical Endocrinology. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 0300-0664 .- 1365-2265.
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Journal article (peer-reviewed)abstract
- Background: Congenital adrenal hyperplasia (CAH) is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000. About one in 70 individuals in the general population are carriers of a severe CYP21A2 mutation. It has been suggested that this confers a survival advantage, perhaps as a result of increased activity in the hypothalamic–pituitary–adrenal axis. We investigated vulnerability to psychological stress in obligate carriers. Method: The Swedish CAH Registry encompasses more than 600 patients. Parents, that is obligate carriers of the CYP21A2 mutation, were identified through the Multigeneration Register. The diagnosis of the child was used as the psychological stressor. Psychiatric diagnoses before and after the birth of a child with CAH were compared to those of controls derived from (i) the general population, (ii) parents of children with hypospadias and (iii) parents of children with diabetes mellitus type 1 (T1DM). Results: Parents of children with CAH had less risk of being diagnosed with any psychiatric disorder (OR, 0 6), an affective disorder (OR, 0 5) or substance misuse (OR, 0 5) after the diagnosis of the child, compared to the general population. Their risk was also decreased compared to parents of a child with hypospadias (OR, 0 6, 0 4 and 0 2, respectively) and parents of a child with T1DM (OR 0 7, 0 6 and 0 2, respectively). The CYP21A2 carriers had a lower risk of developing mood and stress-related disorders after the diagnosis of the child. Conclusion: Obligate CYP21A2 carriers had a reduced risk of a psychiatric diagnosis and were less vulnerable to a psychologically stressful situation, at least with respect to receiving a psychiatric diagnosis. This indicates a better ability to cope with psychological stress among heterozygous carriers of severe CYP21A2 mutations, which may contribute to the apparent survival advantage
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- Paul-Visse, Gesine, et al.
(author)
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Safety and tolerability of intracerebroventricular PDGF-BB in Parkinson's disease patients
- 2015
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In: Journal of Clinical Investigation. - 0021-9738 .- 1558-8238. ; 125:3, s. 1339-1346
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Journal article (peer-reviewed)abstract
- BACKGROUND. Recombinant human PDGF-BB (rhPDGF-BB) reduces Parkinsonian symptoms and increases dopamine transporter (DAT) binding in several animal models of Parkinson's disease (PD). Effects of rhPDGF-BB are the result of proliferation of ventricular wall progenitor cells and reversed by blocking mitosis. Based on these restorative effects, we assessed the safety and tolerability of intracerebroventricular (i.c.v.) rhPDGF-BB administration in individuals with PD. METHODS. We conducted a double-blind, randomized, placebo-controlled phase I/IIa study at two clinical centers in Sweden. Twelve patients with moderate PD received rhPDGF-BB via an implanted drug infusion pump and an investigational i.c.v. catheter. Patients were assigned to a dose cohort (0.2, 1.5, or 5 mu g rhPDGF-BB per day) and then randomized to active treatment or placebo (3:1) for a 12-day treatment period. The primary objective was to assess safety and tolerability of i.c.v.-delivered rhPDGF-BB. Secondary outcome assessments included several clinical rating scales and changes in DAT binding. The follow-up period was 85 days. RESULTS. All patients completed the study. There were no unresolved adverse events. Serious adverse events occurred in three patients; however, these were unrelated to rhPDGF-BB administration. Secondary outcome parameters did not show dose-dependent changes in clinical rating scales, but there was a positive effect on DAT binding in the right putamen. CONCLUSION. At all doses tested, i.c.v. administration of rhPDGF-BB was well tolerated. Results support further clinical development of rhPDGF-BB for patients with PD.
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- Rodríguez-Catarino, M, et al.
(author)
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Internal carotid artery aneurysms, cranial nerve dysfunction and headache: the role of deformation and pulsation.
- 2003
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In: Neuroradiology. - : Springer Science and Business Media LLC. - 0028-3940. ; 45:4, s. 236-40
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Journal article (peer-reviewed)abstract
- Cranial nerve dysfunction and headache may occur with unruptured aneurysms of the cavernous and supraclinoid portions of the internal carotid artery. Nerve deformation (mass effect) and transmitted pulsations have been suggested as pathogenetic mechanisms. Differentiation may be possible by studying effects of endovascular treatment with Guglielmi detachable coils. Symptoms and signs of cranial neuropathy were retrospectively contrasted with angiographic aneurysm volumes before and after treatment in 10 patients. Mean follow-up was 36 months. Symptoms improved in three of four patients with cranial nerve dysfunction and in all patients with headache. None of the other patients, one with cranial nerve dysfunction, and three who were asymptomatic, developed any new symptoms after treatment. Aneurysm volume ranged from 0.1 to 2.7 cm(3 )before and 0.2 to 5.7 cm(3) after treatment; the size thus increased by 15 to 110%, a change which was statistically significant (P=0.004). The consistent increase in aneurysm volume with treatment is not associated with clinical deterioration, suggesting that deformation and displacement play a minor role in cranial neuropathy and that transmitted pulsations may be more important.
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