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- Schiava, M., et al.
(författare)
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Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
- 2022
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Ingår i: Journal of Neurology Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 93:10, s. 1099-1111
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Tidskriftsartikel (refereegranskat)abstract
- Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8 +/- 9.6 years and mean age of onset 45.6 +/- 9.3 years. Mean diagnostic delay was 7.7 +/- 6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8 +/- 7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.
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| 5. |
- Askaner, K., et al.
(författare)
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Differentiation between glioblastomas and brain metastases and regarding their primary site of malignancy using dynamic susceptibility contrast MRI at 3T
- 2019
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Ingår i: Journal of Neuroradiology. - : Elsevier BV. - 0150-9861. ; 46:6, s. 367-372
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Tidskriftsartikel (refereegranskat)abstract
- Background: Differentiation between glioblastoma and brain metastasis may be challenging in conventional contrast-enhanced MRI. Purpose: To investigate if perfusion-weighted MRI is able to differentiate glioblastoma from metastasis and, as a second aim was to see if it was possible in the latter group, to predict the primary site of neoplasm. Material and methods: Hundred and fourteen patients with newly discovered tumor lesion (76 metastases and 38 glioblastomas) underwent conventional contrast-enhanced MRI including dynamic susceptibility contrast perfusion sequence. The calculated relative cerebral blood volumes were analyzed in the solid tumor area, peritumoral area, area adjacent to peritumoral area, and normal appearing white matter in contralateral semioval center. The Student t-test was used to detect statistically significant differences in relative cerebral blood volume between glioblastomas and metastases in the aforementioned areas. Furthermore, the metastasis group was divided in four sub groups (lung-, breast-, melanoma-, and gastrointestinal origin) and using one-way ANOVA test. P-values < 0.05 were considered significant. Results: Relative cerebral blood volume (rCBV) in the peritumoral edema was significantly higher in glioblastomas than in metastases (mean 3.2 ± 1.4 and mean 0.9 ± 0.7), respectively, (P < 0.0001). No significant differences in the solid tumor area or the area adjacent to edema were found, (P = 0.28 and 0.21 respectively). There were no significant differences among metastases in the four groups. Conclusion: It is possible to differentiate glioblastomas from metastases by measuring the CBV in the peritumoral edema. It is not possible to differentiate between brain metastases from different primaries (lung-, breast-, melanoma or gastrointestinal) using CBV-measurements in the solid tumor area, peritumoral edema or area adjacent to edema.
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- Engqvist, Ulf, et al.
(författare)
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Death and suicide among former child and adolescent psychiatric patients
- 2006
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Ingår i: BMC Psychiatry. - 1471-244X. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Increased mortality rates among previous child and adolescent psychiatry (CAP) patients have been found in Scandinavian studies up to the 1980s. The suicide risk in this group has been estimated to be almost five times higher than expected. This article addresses two questions: Do Swedish CAP patients continue to risk premature death and what kind of information related to psychiatric symptoms and/or behavior problems can predict later suicide? METHODS: Hospital files, Sweden's census databases (including immigration and emigration) and administrative databases (including the Swedish Hospital Discharge register and the Persons Convicted of Offences register), and the Cause of Death register were examined to determine the mortality rate in a group of 1,400 former CAP inpatients and outpatients over a period of 12-33 years. Observed and expected numbers of deceased were calculated with the prospective method and the standardized mortality ratio (SMR) method. The relative risk or the risk ratio (RR) is presented with 95% confidence intervals (CIs). Significance level tests were made using two-by-two tables and chi-square tests. The Cox proportional-hazards regression model was used for survival analysis. RESULTS: Twenty-four males and 14 females died. Compared with the general population, the standardized mortality ratio in this group of CAP patients was significantly higher in both sexes. Behavioral problems, school problems, and co-morbid alcohol or drug abuse and criminality (including alcohol-related crimes) were found to be important predictors. Thirty-two deaths were attributed to suicide, intoxication, drug overdose, or accident; one patient died of an alcohol abuse-related disorder, and five patients died of natural causes. Suicide was the most common cause of death, but only 2 of these 19 cases were initially admitted for attempted suicide. CONCLUSION: We suggest that suicide and death prevention among CAP patients may not be a psychiatric issue per se but a future function of society's juvenile social-welfare investments and juvenile-delinquency prevention programs.
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- Engqvist, Ulf, et al.
(författare)
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Mortality among former child and adolescent psychiatric patients.
- 2004
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Ingår i: Facilitating Pathways: Care, Treatment and Prevention in Child and Adolescent Mental Health, 16th International Congress of the International Association for Child and Adolescent Psychiatry, Berlin.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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