| 1. |
- Ansari, Daniel, et al.
(författare)
-
Single-institution experience with solid pseudopapillary neoplasm of the pancreas.
- 2011
-
Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 1502-7708 .- 0036-5521. ; 46:12, s. 1492-1497
-
Tidskriftsartikel (refereegranskat)abstract
- Abstract Objective. Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare clinical entity. The objective of this study was to review a single institution's experience with this uncommon tumor, as well as review the literature. Material and Methods. Consecutive patients, who underwent surgery for a pathologically confirmed SPN between 1991 and 2010, were retrospectively reviewed. A PubMed search (January 1980-June 2011) was conducted to identify risk factors for death among SPN patients. Results. The institutional review identified 16 patients with SPN. Thirteen patients were female and three patients were male (median age 34 years). All patients underwent radical resection. Two patients had metastatic disease at the time of operation as evident by the presence of lymph node metastasis and gallbladder metastasis. One developed liver metastasis 4 months postoperatively and subsequently died. The other patient received adjuvant chemotherapy (gemcitabine and capecitabine), and 23 months after the initial operation, no tumor recurrence was detected and the patient is still alive. All other patients remain disease-free. Analysis of 29 fatalities reported in the English literature (including the present case) revealed several atypical features including male gender, old age, tumor size >5 cm, diffuse growth pattern, cellular or nuclear atypia, high mitotic rate, extensive necrosis, extrapancreatic invasion, metastasis and incomplete resection. Conclusions. SPN is not always indolent. Male patients and those with old age, atypical histopathology (large tumors, diffuse growth, cellular/nuclear atypia, mitotic activity, necrosis, invasion/metastasis) and incomplete resection may have a higher risk of recurrence and death, deserving particular attention.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Ran, C., et al.
(författare)
-
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
- 2016
-
Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 45
-
Tidskriftsartikel (refereegranskat)abstract
- Several genetic studies have demonstrated an association between mutations in glucocerebrosidase (GBA), originally implicated in Gaucher's disease, and an increased risk of Parkinson's disease (PD). We have investigated the possible involvement of genetic GBA variations in PD in the Swedish population. Three GBA variants, E326K, N370S, and L444P were screened in the largest Swedish Parkinson cohort reported to date; 1625 cases and 2025 control individuals. We found a significant association with high effect size of the rare variant L444P with PD (odds ratio 8.17; 95% confidence interval: 2.51-26.23; p-value = 0.0020) and a significant association of the common variant E326K (odds ratio 1.60; 95% confidence interval: 1.16-2.22; p-value = 0.026). The rare variant N370S showed a trend for association. Most L444P carriers (68%) were found to reside in northern Sweden, which is consistent with a higher prevalence of Gaucher's disease in this part of the country. Our findings support the role of GBA mutations as risk factors for PD and point to lysosomal dysfunction as a mechanism contributing to PD etiology. (C) 2016 The Author(s). Published by Elsevier Inc.
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Ygland, Emil, et al.
(författare)
-
Slowly progressive dementia caused by MAPT R406W mutations : longitudinal report on a new kindred and systematic review
- 2018
-
Ingår i: Alzheimer's Research & Therapy. - : BioMed Central. - 1758-9193. ; 10
-
Forskningsöversikt (refereegranskat)abstract
- Background: The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. Methods: We compiled clinical data from a new Swedish kindred with R406W mutation. Seven family members were followed longitudinally for up to 22 years. Radiological examinations were performed in six family members and neuropathological examinations in three. We systematically reviewed the literature and compiled clinical, radiological, and neuropathological data on 63 previously described R406W heterozygotes and 3 homozygotes. Results: For all cases combined, the median age of onset was 56 years and the median disease duration was 13 years. Memory impairment was the most frequent symptom, behavioral disturbance and language impairment were less common, and Parkinsonism was rare. Disease progression was most often slow. The most frequent clinical diagnosis was Alzheimer's disease. R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes. In the new Swedish kindred, a consistent imaging finding was ventromedial temporal lobe atrophy, which was evident also in early disease stages as a widening of the collateral sulcus with ensuing atrophy of the parahippocampal gyrus. Unlike previously published R406W carriers, all three autopsied patients from the novel family showed neuropathological similarities with progressive supranuclear palsy, with predominant four-repeat (exon 10+) tau isoform (4R) tauopathy and neurofibrillary tangles accentuated in the basal-medial temporal lobe. Amyloid-beta pathology was absent. Conclusions: Dominance of 4R over three-repeat (exon 10-) tau isoforms contrasts with earlier reports of R406W patients and was not sufficiently explained by the presence of H1/H2 haplotypes in two of the autopsied patients. R406W patients often show a long course of disease with marked memory deficits. Both our neuropathological results and our imaging findings revealed that the ventromedial temporal lobes were extensively affected in the disease. We suggest that this area may represent the point of origin of tau deposition in this disease with relatively isolated tauopathy.
|
|
| 10. |
|
|
