Sökning: "familial aggregation"

Visar resultat 1 - 5 av 61 avhandlingar innehållade orden familial aggregation.

1. 1. Waldenstrom's macroglobulinemia : population based studies of familial aggregation and prognostic factors

   Författare :Lena Brandefors; Beatrice S. Melin; Ola Landgren; Umeå universitet; []
   Nyckelord :Waldenstrom’s macroglobulinemia; lymphoplasmacytic lymphoma; monoclonal gammopathy of undetermined significance; Swedish Lymphoma Registry; incidence; overall survival; prognostic factors; familial Waldenstrom’s macroglobulinemia; hyperphosphorylated paratarg 7;

   Sammanfattning : BackgroundWaldenstrom’s macroglobulinemia (WM) is a rare lymphoproliferative disorder with a world-wide incidence of 3-4 patients per million persons per year. In Sweden, the incidence was about three times higher, and approximately 100 patients per year are reported to the Swedish Lymphoma Registry (SLR). LÄS MER

3. 2. Apolipoprotein A-IV and Transthyretin in Swedish Forms of Systemic Amyloidosis

   Författare :Joakim Bergström; Per Westermark; Giampaolo Merlini; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pathology; Amyloid; Fibril; Aggregation; Apolipoprotein A-IV; Transthyretin; Seeding; Senile systemic amyloidosis; Familial amyloidotic polyneuropathy; Patologi; Pathology; Patologi;

   Sammanfattning : Over 20 different plasma proteins have been shown to have the capacity to undergo conformational changes and self-assemble into highly stable and insoluble amyloid fibrils. One, transthyretin (TTR), consists of 127 amino acid residues arranged in eight β-strands (named A to H) and is involved in two different clinical forms of amyloidosis. LÄS MER

4. 3. Clinical and Epidemiological Studies of Wegener´s Granulomatosis

   Författare :Ann Knight; Roger Hällgren; Johan Askling; Anders Ekbom; Lennart Jacobsson; Uppsala universitet; []
   Nyckelord :Medicine; Wegener´s granulomatosis; incidence; time-trends; ANCA; familial aggregation; cancer risks; bladder cancer; cyclophosphamide; Medicin;

   Sammanfattning : Wegener´s granulomatosis (WG) is an unusual, serious, systemic vasculitis with specific clinical findings. The studies in this thesis aim at broadening our understanding of the aetiology and outcome of WG.Patients with WG were identified in the In-patient Register 1975-2001. LÄS MER

5. 4. SOD1 prions transmit templated aggregation and fatal ALS-like disease

   Författare :Elaheh Ekhtiari Bidhendi; Thomas Brännström; Stefan L. Marklund; Peter M. Andersen; Inger Nennesmo; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; amyotrophic lateral sclerosis; SOD1; prion; neurodegeneration; strain; seeding; protein misfolding; protein aggregation; propagation; transgenic mice; Pathology; patologi; Neurology; neurologi;

   Sammanfattning : Amyotrophic lateral sclerosis (ALS) is an adult-onset fatal neurodegenerative disease characterized by a progressive degeneration of the upper and lower motor neurons. The resulting paresis begins focally, usually in one muscle, and spreads contiguously, leading to muscle wasting, progressive paralysis and eventually death. LÄS MER

7. 5. Amyloid-β Protofibril Formation and Neurotoxicity : Implications for Alzheimer’s Disease

   Författare :Ann-Sofi Johansson; Lars Lannfelt; Frida Ekholm Pettersson; Pär Gellerfors; Tobias Hartmann; Uppsala universitet; []
   Nyckelord :Neurosciences; Amyloid-β; Neurotoxicity; Aggregation; Protofibrils; Alzheimer s disease; Neurovetenskap;

   Sammanfattning : Alzheimer’s disease (AD) is the most common cause of dementia. A characteristic feature of AD is the presence of amyloid plaques in the cortex and hippocampus of the brain. The principal component of these plaques is the amyloid-β (Aβ) peptide, a cleavage product from proteolytic processing of amyloid precursor protein (APP). LÄS MER