PedAM
Pediatric Disease Annotations & Medicines
| Disease | amyloidosis |
| Symptom | C0019080|hemorrhage |
| Sentences | 22 |
| PubMedID- 25731625 | The two best studied monogenic forms of cerebrovascular disease are cadasil and hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) . |
| PubMedID- 22494386 | Aβ: amyloid-β; ad: alzheimer's disease; aicd: amyloid precursor protein intracellular domain; app: amyloid precursor protein; caa: cerebral amyloid angiopathy; ctf: carboxy-terminal fragment; fad: familial alzheimer's disease; gsm: γ-secretase modulator; hchwa-d: hereditary cerebral hemorrhage with amyloidosis dutch-type; nicd: notch intracellular domain; psen: presenilin; tmd: transmembrane domain; wt: wild type. |
| PubMedID- 24870607 | Amyloid beta in hereditary cerebral hemorrhage with amyloidosis-dutch type. |
| PubMedID- 22528105 | We have used it for solubilizing cystatin c amyloid and extracting it out of leptomeningeal tissue and skin from hereditary cerebral hemorrhage with amyloidosis-icelandic type (hchwa-i) patients. |
| PubMedID- 22160219 | Hereditary cerebral hemorrhage with amyloidosis-dutch type is a disorder associated with a missense mutation (e693q) in the beta-amyloid (abeta)-coding region of the amyloid precursor protein (app). |
| PubMedID- 20034483 | Cerebral amyloid angiopathy (caa) is a common pathological finding in alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the dutch type; in this latter condition it is caused by deposition of mutated amyloid beta protein (abeta glu22gln; d-abeta(1-40)). |
| PubMedID- 23273574 | This disease is known as "hereditary cerebral hemorrhage with amyloidosis-icelandic type" or "hereditary cystatin c amyloid angiopathy." the mutant cystatin c protein forms aggregates and amyloid, within the central nervous system almost exclusively in connection with the vascular system. |
| PubMedID- 23528174 | Extensive al amyloidosis presenting with recurrent liver hemorrhage and hemoperitoneum: case report and literature review. |
| PubMedID- 24646423 | In addition, a mutation that causes hereditary cerebral hemorrhage with amyloidosis-dutch type also attenuated the app-mediated intracellular death signal. |
| PubMedID- 21949501 | However, the substitution of glu22 → gln found in hereditary cerebral hemorrhage with amyloidosis of the dutch type, yields a peptide with increased ability to form amyloid fibrils (soto et al., 1995). |
| PubMedID- 20729874 | Two types of hereditary cerebral hemorrhage with amyloidosis (hchwa) have been described: the icelandic type (hchwa-i) and the dutch type (hchwa-d). |
| PubMedID- 20697050 | Conclusions: these findings expand the number of app mutations linked to hereditary cerebral hemorrhage with amyloidosis, reinforcing the link between this phenotype and codon 693 of app. |
| PubMedID- 23122413 | Cerebral amyloid angiopathy (caa) is a key histopathological hallmark of alzheimer's disease (ad) and hereditary cerebral hemorrhage with amyloidosis of the dutch type (hchwa-d). |
| PubMedID- 20091183 | Patients who have hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) generate both wild-type aβ and e22q-mutant aβ (aβ dutch) (van duinen et al. |
| PubMedID- 23505467 | Fibril formation in this mutation is limited to the cerebrovasculature and amyloidosis leads to cerebral hemorrhage , . |
| PubMedID- 24998827 | Dutch-type hereditary cerebral hemorrhage with amyloidosis (hchwa-d), icelandic-type hchwa (hchwa-i), familial british dementia (fbd), familial danish dementia (fdd), and prp-caa. |
| PubMedID- 22783166 | Hereditary cerebral hemorrhage with amyloidosis, icelandic type (hchwa-i) (arnason, 1935; gudmundsson et al., 1972), also called hereditary cystatin c amyloid angiopathy (hccaa; olafsson et al., 1996), is an autosomal dominant form of caa. |
| PubMedID- 23629649 | Protein misfolding is implicated in the pathogenesis of neurodegenerative pathologies like alzheimer, huntington, and parkinson diseases, the spongiform encephalopathies, age-related diabetes mellitus, cystatin c amyloidosis with brain hemorrhage, and a number of other conditions characterized by tissue amyloid deposition. |
| PubMedID- 23267843 | Accumulation of amyloid-beta (abeta) in brain vessel walls and parenchyma, known as cerebral amyloid angiopathy (caa) and senile plaques (sps), respectively, plays a key role in alzheimer's disease (ad) and hereditary cerebral hemorrhage with amyloidosis of the dutch type (hchwa-d) pathogenesis. |
| PubMedID- 23857767 | Abnormal changes of vsmcs are implicated not only in hypertensive ich (takebayashi and kaneko, 1983; pleşea et al., 2005), but also in hereditary cerebral hemorrhage with amyloidosis (herzig et al., 2004; mccarron and nicoll, 2004) and atherosclerosis, among others (orr et al., 2010). |
| PubMedID- 25052608 | Results: case 1, a 57-year-old male, secondary to multiple myeloma and amyloidosis, was presented with spontaneous mucous hemorrhage with the level of fx:c 1.8%, which kept unchanged after chemotherapy with melphalan, glucocorticoid, and thalidomide, and died of primary disease progression. |
| PubMedID- 22539931 | It has been indicated in both human and experimental studies that an increase of aβ40 to aβ42 ratio significantly shifts aβ deposition toward the cerebral vasculature, resulting in prominent caa, as demonstrated in hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) with a point mutation at codon 693 of the aβ precursor protein (app) gene that causes a single amino acid substitution (glu to gln) at position 22 of aβ, and the transgenic mouse model of this disease (herzig et al., 2004). |
Page: 1