A5031190484- Cerebrovascular and genetic disorders
- Neurofibromatosis and Schwannoma Cases
- Moyamoya disease diagnosis and treatment
- Soft tissue tumor case studies
- Cell Adhesion Molecules Research
- Metalloenzymes and iron-sulfur proteins
- Neurological diseases and metabolism
- Meningioma and schwannoma management
- Neuroblastoma Research and Treatments
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Vascular Malformations Diagnosis and Treatment
- Sarcoma Diagnosis and Treatment
- RNA modifications and cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Research in Social Sciences
- Genomic variations and chromosomal abnormalities
- Amyotrophic Lateral Sclerosis Research
- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Cerebrovascular and Carotid Artery Diseases
- Soft tissue tumors and treatment
- Vascular Malformations and Hemangiomas
- Protease and Inhibitor Mechanisms
University of Helsinki
2015-2024
Helsinki University Hospital
2015-2024
Turku University Hospital
2001-2019
University of Turku
2001-2016
Tampere University
2004-2016
Finnish Cancer Registry
2016
Metropolitan University
2015
Folkhälsans Forskningscentrum
2014
Genetikum
2010
Karolinska Institutet
2001-2009
Purpose The current study was designed to determine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by type, age, and sex unprecedented accuracy be achieved combining two total population–based registers. Patients Methods A population-based series NF1 (N = 1,404; 19,076 person-years) linked incident cancers recorded Finnish Cancer Registry deaths national Population Register Centre between 1987 2012. Standardized incidence ratios (SIRs) standardized mortality (SMRs) were...
Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of abnormalities, particular, malformations (CVMs), among 2322 definite NF1 National Neurofibromatosis Foundation International Database from 1991–98. Cardiovascular were reported 54/2322 (2.3%) patients, only 4 whom had Watson syndrome or NF1-Noonan syndrome. There was predominance Class II...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary vascular dementia. It caused by mutations in NOTCH3 gene, which encodes a large transmembrane receptor Notch3. The key pathological finding accumulation of granular osmiophilic material (GOM), contains extracellular domains Notch3, on degenerating smooth muscle cells (VSMCs). GOM has been considered specifically diagnostic for CADASIL, but reports sensitivity...
The incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates prevalence vary greatly. This retrospective total-population study was aimed at determining NF1 in Finland.All secondary and tertiary referral centers Finland were searched for patients. Patient records manually reviewed patients fulfilling National Institutes Health diagnostic criteria included. Prevalence on 31 December 2005 determined. Data survival combined to refine estimation.A total 1,279...
Abstract Apolipoprotein E ε4 allele ( APOE4 ) has been shown to associate with increased susceptibility SARS-CoV-2 infection and COVID-19 mortality in some previous genetic studies, but information on the role of underlying pathology parallel clinical manifestations is scarce. Here we studied association between APOE Finnish biobank, autopsy prospective cohort datasets. In line work, our data 2611 cases showed that carriership associates severe intensive care patients compared non-infected...
Children with neurofibromatosis 1 (NF1) often develop low-grade gliomas, but brain tumors are infrequently encountered in adults NF1. The authors present evidence from two clinical series, one including patients known to have NF1 and another focusing on new onset tumors, that suggests an association between symptomatic gliomas older individuals. They also summarize the data 17 adolescents or gliomas. findings suggest individuals at increased risk of developing throughout their lives.
In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) the vascular smooth muscle cells are destroyed granular osmiophilic material is deposited followed by fibrosis of arterial wall. To verify whether true stenosis fibrotic white matter arteries a key pathogenic event in CADASIL, we analyzed thickness walls (expressed as sclerotic index) luminal diameters penetrating arterioles both grey four CADASIL patients due to C475T (R133C) mutation...
Familial clustering of endometrial carcinoma (EC) may occur as part hereditary nonpolyposis colorectal cancer (HNPCC), a multiorgan syndrome with mismatch repair (MMR) deficiency. Clustering EC alone, termed familial site-specific EC, constitute separate entity. Because its genetic basis is unknown, our purpose was to characterize such families molecularly.Twenty-three were identified among 519 consecutive patients diagnosed during 1986 1997. Tumor tissues examined for MMR protein expression...
An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the survival, we aimed to link histopathology clinical characteristics of NF1-associated cancers.The Finnish Cancer Registry NF were cross-referenced identify NF1 patients cancer. Archival specimens retrieved histopathological typing compared matched controls.A total 32 cancers diagnosed in 1404 during follow-up. Women had an estimated lifetime risk 18.0% cancer,...
Upon binding to pathogen or self-derived cytosolic nucleic acids cyclic GMP-AMP synthase (cGAS) triggers the production of cGAMP that further activates transmembrane protein STING. activation STING translocates from ER via Golgi vesicles. Monogenic gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging fatal vasculopathy mild chilblain lupus. Molecular mechanisms underlying variable phenotype-genotype correlation are presently unclear. Here,...
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) causes repeated ischemic attacks leading to vascular dementia. The aim of this study was characterize cognitive function in subjects a C475T (R133C) mutation the Notch3 gene, CADASIL.Prestroke (n=13) poststroke carriers dementia (n=8) were compared healthy noncarriers from same families using comprehensive set neuropsychological tests.Changes working memory executive observed very early phase...
Abstract A family of Finnish descent with very‐early‐onset Alzheimer's disease has been identified. Genetic analysis this eliminated the amyloid precursor protein gene as pathogenic locus, but strongly implicated a locus on chromosome 14q23.4 between D14S52 and D14S55. The early age at onset (average, 36 years; range, 35–39 years), rapid progression, prominent myoclonus, while they appear to be frequent findings in 14–encoded form disease, raised clinical suspicion prion disease. However,...
In one-third of families fulfilling the Amsterdam criteria for hereditary nonpolyposis colorectal cancer/Lynch syndrome, and a majority those not these point mutations in DNA mismatch repair (MMR) genes are found. The role large genomic rearrangements germline epimutations MLH1, MSH2 MSH6 was evaluated 2 such cohorts. All 45 index patients were mutation-negative by sequencing testing prevalent population-specific founder mutation, selectively lacked MMR protein expression tumor tissue....
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2,000. Patients NF1 have increased risk and mortality, but there are no population-based cohort studies specifically investigating the childhood malignancies. We used Finnish to analyze incidence, prognosis malignancies in patients <20 years age. Persons born 1987-2011 were included, 524 persons followed through files Cancer Registry from birth up age 20 years. This amounted 8,376 person Fifty-three had...