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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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- 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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- Daud, A, et al.
(författare)
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Comorbidity/overlapping between ADHD and PTSD in relation to IQ among children of traumatized/non-traumatized parents
- 2009
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Ingår i: Journal of attention disorders. - : SAGE Publications. - 1087-0547 .- 1557-1246. ; 13:2, s. 188-196
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study explores the comorbidity between symptoms of ADHD and PTSD in relation to IQ among refugee children of traumatized parents (TP) and non-traumatized parents (NTP). Method: The study compares 80 refugee children, 40 with TP with 40 with NTP. ADHD and PTSD are assessed using DICA. Children’s cognitive functions are measured by WISC. Teacher ratings of YCI and SDQ are performed. Results: Overlapping between ADHD and PTSD symptoms are represented among children with TP. Cognitive functions, related to ADHD and PTSD, reveal associations between low IQ (<84) and having both ADHD and PTSD among children with TP. Conclusions: Concerns are raised about how ADHD and PTSD symptoms in a child are to be interpreted. Some overlapping exists between the two syndromes, but further studies should determine whether true comorbidity exists between ADHD and PTSD symptoms to better understand how to correctly diagnose and treat refugee children with TP. (J. of Att. Dis. 2009; 13(2) 188-196)
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