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- Frazier-Wood, Alexis C., et al.
(författare)
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
- 2016
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Ingår i: Nature Genetics. - : Nature Research (part of Springer Nature). - 1061-4036 .- 1546-1718. ; 48, s. 624-
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Tidskriftsartikel (refereegranskat)abstract
- Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (vertical bar(p) over cap vertical bar approximate to 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.
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| 2. |
- Jirlow, Unni, et al.
(författare)
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Evaluation of Miethke M.scio Device Implantation for Intracranial Pressure Monitoring in Patients with Cerebrospinal Fluid Disorders
- 2023
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Ingår i: World Neurosurgery. - : Elsevier. - 1878-8750 .- 1878-8769. ; 179, s. E63-E74
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Patients with complex shunt-related problems and varying diagnoses of cerebrospinal fluid (CSF) disturbance can present with headache and clinical symptoms that may be difficult to relate to underdrainage or overdrainage. Telemetric intracranial pressure (ICP) monitoring may assist in evaluating individual patients and assessing shunt function and adjustment. We report a case series of patients receiving a Miethke M.scio sensor.METHODS: Between June 2016 and August 2021, 14 patients older than 18 years with different diagnoses underwent ventriculoperitoneal shunt surgery and received a Miethke M.scio sensor.RESULTS: Patients had idiopathic intracranial hyper-tension (n = 3), obstructive hydrocephalus caused by tumors (n = 4), and malformations (n = 5). Headaches (71%) and visual impairment (50%) were the most common symptoms before surgery and 65% of the symptoms were improved after surgery. In total, 25 measurements were made and 11 of these led to changes in the shunt settings. Postoperative measurements were taken in 8 patients and the most common indication of ICP measurement was headache and/or control of the shunt settings.CONCLUSIONS: The Miethke M.scio is a safe and valuable device to use in shunt-treated patients, in particular those expected to need assessment of ICP monitoring postoperatively. Repeated ICP measurements can also assist in personalized adjustment of the shunt setting to optimize CSF flow in this diverse patient group. Future studies should include a standardized protocol with ICP measurements correlated to the symptoms and cause of CSF disturbances to provide better understanding of the dynamics of the ICP in each patient.
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| 3. |
- Magnéli, Sara, et al.
(författare)
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Cystoventricular Drainage of Intracranial Arachnoid Cysts in Adults
- 2021
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Ingår i: World Neurosurgery. - : Elsevier. - 1878-8750 .- 1878-8769. ; 152, s. e297-e301
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Intracranial arachnoid cysts (ACs) are generally benign fluid-filled cysts with a prevalence of 0.5%-2.7%. They can be treated through craniotomy with cyst removal, endoscopic fenestration, or cystoperitoneal or ventriculoperitoneal shunting. However, the outcome of these treatments has not been completely satisfactory. Cystoventricular shunting was described as an alternative method for the treatment of intracranial ACs in children in 2003. In the present report, we have described the outcomes of cystoventricular shunting in adults with symptomatic intracranial ACs.METHODS: A total of 24 patients with symptomatic ACs underwent cystoventricular drainage from 2012 to 2019. The most common symptom preoperatively was headache, followed by dysphasia, motor weakness, memory loss, seizures, and balance disturbances. After radiological evaluation, a ventricular catheter was placed in the AC and another in one of the lateral ventricles and connected extracranially after subgaleal tunneling using a straight metal connector.RESULTS: At 3-6 months of postoperative follow-up, 21% of patients were asymptomatic and 42% showed improvement in clinical symptoms. No patient had experienced impairment or progression of symptoms postoperatively. Three patients had required revision of the catheters and one patient had developed a postoperative superficial skin infection without signs of deeper infection.CONCLUSIONS: Cystoventricular drainage seems to be an effective, reliable, and safe procedure to treat intracranial ACs when fenestration to the basal cisterns is not possible.
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| 4. |
- Spallarossa, Andrea, et al.
(författare)
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Crystal structures of HIV-1 reverse transcriptase complexes with thiocarbamate non-nucleoside inhibitors
- 2008
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Ingår i: Biochemical and Biophysical Research Communications - BBRC. - : Elsevier BV. - 0006-291X .- 1090-2104. ; 365:4, s. 764-770
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Tidskriftsartikel (refereegranskat)abstract
- O-Phthalimidoethyl-N-arylthiocarbamates (TCs) have been recently identified as a new class of potent HIV-1 reverse transcriptase (RT) non-nucleoside inhibitors (NNRTIs), by means of computer-aided drug design techniques [Ranise A. Spallarossa, S. Cesarini, F. Bondavalli, S. Schenone, O. Bruno, G. Menozzi, P. Fossa, L. Mosti, M. La Colla, et al., Structure-based design, parallel synthesis, structure-activity relationship, and molecular modeling studies of thiocarbamates, new potent non-nucleoside HIV-1 reverse transcriptase inhibitor isosteres of phenethylthiazolylthiourea derivatives, J. Med. Chem. 48 (2005) 3858-3873]. To elucidate the atomic details of RT/TC interaction and validate an earlier TC docking model, the structures of three RT/TC complexes were determined at 2.8-3.0A resolution by X-ray crystallography. The conformations adopted by the enzyme-bound TCs were analyzed and compared with those of bioisosterically related NNRTIs.
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