Presentation
Aβ was also present in a proportion of both vascular and parenchymal lesions. There was severe neurofibrillary pathology, and tau immunoblotting revealed a triplet electrophoretic migration pattern comparable with PHF-tau. [indiana.pure.elsevier.com]
These TFNS are classically described as recurrent, stereotyped, spreading paraesthesias lasting several minutes but there is a wide spectrum of presentations encompassing both positive (spreading paraesthesia or visual symptoms) and negative (paresis, [radiopaedia.org]
Abeta was also present in a proportion of both vascular and parenchymal lesions. There was severe neurofibrillary pathology, and tau immunoblotting revealed a triplet electrophoretic migration pattern comparable with PHF-tau. [ncbi.nlm.nih.gov]
This represents, at present, a major limitation to the identification of reliable biomarkers and the development of disease-specific treatment options. [ingentaconnect.com]
Double-stainings using C-terminal specific antibodies in human samples revealed that highly aggregated pGlu-ABri and pGlu-ADan peptides are mainly present in plaque cores and central vascular deposits, leading to the assumption that these peptides have [discovery.ucl.ac.uk]
Entire Body System
- Developmental Delay
MAST SYNDROME Is also known as spastic paraplegia 21, autosomal recessive;spg21;mast syndrome; spg21 Related symptoms: Autosomal recessive inheritance Global developmental delay Motor delay Spasticity Peripheral neuropathy SOURCES: MONDO MESH ORPHANET [mendelian.co]
- Developmental Disabilities
الصفحة 104 - Studies in our laboratories were supported in part by the New York State Office of Mental Retardation and Developmental Disabilities and... [books.google.com]
Musculoskeletal
- Joint Effusion
effusions& pain Myelopathy β 2 -microglobulin Amyloidosis, renal (ALys) Renal Visceral Lysozyme (LYZ) AApoAIIRenalApolipoprotein A II (APOA2) AApoCIIRenalApolipoprotein C II (APOC2) AApoCIIIRenalApolipoprotein C III (APOC3) Muckle-Wells syndrome Cold [neuromuscular.wustl.edu]
Neurologic
- Recurrent Headache
headaches, ischemic lesions, hemorrhagic strokes, and progressive dementia (Revesz et al., 2003; pubmed: 14533778). [flybase.org]
- Excitement
The Excitation of Extended Red Emission: New Constraints on Its Carrier from Hubble Space Telescope Observations of NGC 7023. The Astrophysical Journal 2006, 636 (1), 303-315. DOI: 10.1086/498052. [pubs.acs.org]
Workup
Other Pathologies
- Neurofibrillary Tangle
These findings support the notion that parenchymal amyloid fibril formation is not a prerequisite for the development of neurofibrillary tangles. [indiana.pure.elsevier.com]
These findings support the notion that parenchymal amyloid fibril formation is not a prerequisite for the development of neurofibrillary tangles. The significance of concurrent ADan and Abeta deposition in FDD is under further investigation. [ncbi.nlm.nih.gov]
Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. [genecards.org]
Processing of the mutated BRI2 protein leads to the accumulation in the brain of the 34-mer amyloid Bri (ABri) and amyloid Dan (ADan) peptides, accompanied by neurofibrillary tangles. [ri.conicet.gov.ar]
Two early-onset neurodegenerative conditions, familial British and Danish dementias (FBD and FDD) show extensive pre-amyloid and amyloid deposits, congophilic angiopathy and neurofibrillary tangle pathology, closely resembling AD. [grantome.com]
Treatment
Effective treatment of the underlying inflammatory condition has reduced incidence in developed countries. [perthhaematology.com.au]
Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]
The underlying mechanisms and treatment of small vessel disease remain poorly understood. Microbleeds have emerged as a critical imaging marker of small vessel disease, being found in all types of stroke. [books.google.com]
Sanjeev Sethi The treatment of AL had advanced considerably over the past two decades. The first effective treatment was melphalan and prednisone (MP). [abdominalkey.com]
Prognosis
The prognosis does not appear to be related to the degree of the proteinuria. Treatment by peritoneal dialysis or hemodialysis or kidney transplantation improves the prognosis considerably. Hypertension is rare, except in long-standing amyloidosis. [perthhaematology.com.au]
Support groups People affected by amyloidosis are supported by organizations, including the Amyloidosis Foundation, Amyloidosis Support Groups, and Amyloidosis Australia. [18] [19] Prognosis Prognosis varies with the type of amyloidosis. [like2do.com]
Summary of common cardiac amyloidosis a Nomenclature Precursor of Amyloid Fiber Type Prevalence Prognosis AL (26) Immunoglobulin light chain Primary amyloid cardiomyopathy 50% in patients with AL amyloidosis Median survival-11 mo ATTR (28, 46, 79, 101 [ajpheart.physiology.org]
[edit] Prognosis varies with the type of amyloidosis. [en.wikipedia.org]
PROGNOSIS • Prognosis with generalized amyloidosis is poor. • those with AL amyloidosis have a median survival rate of 2 years after diagnosis. 60. [slideshare.net]
Etiology
Alzheimer’s disease: Advances in Etiology, Pathogenesis and Therapeutics. Chichester, UK: John Wiley & Sons; 2001. pp. 487-94. Vidal R, Révész T, Rostagno A, Bek T, Braendgaard H, Plant G, Ghiso J, Frangione B. [med.nyu.edu]
The etiology is either infectious (ie, kuru) or genetic (ie, Creutzfeldt-Jakob disease [CJD], Gerstmann-Sträussler-Scheinker [GSS] syndrome, fatal familial insomnia [FFI]). [medicalgeek.com]
SMASH-U: a proposal for etiologic classification of intracerebral hemorrhage. Stroke 2012;43:2592-2597. PMID: 22858729. 21. Yeh SJ, Tang SC, Tsai LK, Jeng JS. [j-stroke.org]
[…] appreciated 25 MRI: curvilinear regions of signal drop-out localized to one of more sulci best seen on T2* sequences (GRE, echo-planar, SWI) 9,25 ischemia ischemic leukoencephalopathy chronic lesions, indistinguishable from leukoaraiosis due to other etiologies [radiopaedia.org]
Descriptive terms such as primary amyloidosis, secondary amyloidosis, and others (e.g., senile amyloidosis), which are not based on etiology, provide little useful information and are no longer recommended. [ipfs.io]
Epidemiology
The present paper summarizes epidemiologic and clinical aspects of CAA, and highlights the presumed pathomechanisms of amyloid deposition in both sporadic and hereditary forms. [ingentaconnect.com]
Epidemiology Sick sinus syndrome is most common in the elderly, but can occur in all ages. [patient.info]
[…] concentration of serum amyloid A protein. [7] People with ATTR have better prognosis and may survive for over a decade. [6] Senile systemic amyloidosis was determined to be the primary cause of death for 70% of people over 110 who have been autopsied. [19] [20] Epidemiology [ipfs.io]
[…] concentration of serum amyloid A protein. [7] People with ATTR have better prognosis and may survive for over a decade. [6] Senile systemic amyloidosis was determined to be the primary cause of death for 70% of people over 110 who have been autopsied. [20] [21] Epidemiology [like2do.com]
[…] concentration of serum amyloid A protein.[7] People with ATTR have a better prognosis and may survive for over a decade.[6] Senile systemic amyloidosis was determined to be the primary cause of death for 70% of people over 110 who have been autopsied.[24][25] Epidemiology [en.wikipedia.org]
Pathophysiology
[…] random distribution fat embolism syndrome 'starfield' pattern of distribution lesions also show restricted diffusion on DWI and are likely visible on other sequences radiation induced vasculopathy microhemorrhages have a very similar appearance (similar pathophysiology [radiopaedia.org]
"Leukocyte Cell-Derived Chemotaxin-2: It's Role in Pathophysiology and Future in Clinical Medicine". Clinical and Translational Science. 10 (4): 249-259. doi : 10.1111/cts.12469. PMC 5504477. [like2do.com]
"Leukocyte Cell-Derived Chemotaxin-2: It's Role in Pathophysiology and Future in Clinical Medicine". Clinical and Translational Science. 10 (4): 249–259. doi:10.1111/cts.12469. PMC 5504477. [en.wikipedia.org]
The disease has no effective therapy and the mechanisms responsible for pathophysiology are not well understood. Mutations linked to familial ALS have been helpful in exploring the processes that cause the disease. [bitanlab.neurology.ucla.edu]
Despite their biochemical and clinical differences, the various amyloidoses share common pathophysiologic features: a precursor substance in appropriate concentration; appropriate host genetic background; abnormalities in proteolysis of fibril precursors [perthhaematology.com.au]
Prevention
Ch published 12 Feb 2014 Treadmill Exercise Training Prevents Myocardial Mechanical Dysfunction Induced by Androgenic-Anabolic Steroid Treatment in Rats Danilo S. Bocalini, Abram Beutel, Cássia T. Bergamaschi, Paulo J. Tucci, Ruy R. [journals.plos.org]
Better understanding of the genetic factors influencing CAA will lead to identification of novel diagnostic markers and the development of preventive for CAA and CAA-related disorders. [webview.isho.jp]
Kronborg MB, Nielsen JC ; Pacing in sinus node disease to prevent atrial fibrillation. Expert Rev Cardiovasc Ther. 2012 Jul10(7):851-8. doi: 10.1586/erc.12.79. [patient.info]
Colchicine has been shown to be effective in preventing acute attacks and amyloidosis in patients with FMF. The major causes of death are heart disease and renal failure. Sudden death, presumably due to arrhythmias, is common. [perthhaematology.com.au]
Intermittent dosing at the onset of attacks is not as effective as daily prophylaxis and is of unproven value in preventing amyloidosis. [what-when-how.com]